Diseases With Cellular Abberation

7/31/2019 Diseases With Cellular Abberation

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a general term for a group of syndromes that involve an abnormal accumulation and

infiltration of histiocytes (monocytes, dendritic cells & macrophages)

PATHOPHYSIOLOGYASSESSMENT MANAGEMENT

Diagnostic Exams

Other tests:Other tests: CT & MRI- show detailed, anatomic pattern of

involvement and can help in staging the disease

Causes/Risk Factors

Predisposing Factors:

Age- 1-15 y/o, peaks at 1-3 y/o

Gender- male (most common)

Precipitating Factors:

Viral infection

Cellular & Immune dysfunction (lymphocytes & cytokines)

Neoplastic mechanism & genetic factors

Cellular adhesion molecules

Medical Manageme

Chemotherapy Cyclophosphamide

Etoposide

Methotrexate

Vinblastine Radiotherapy Antibiotics & Corticosteroids Breathing support (eg. mechanical ventilati Hormone replacement theory Physical Therapy Special shampoos for scalp problem

Nursing Manageme

Maintain a link between patients, families, and membersthe multidisciplinary team.

Be able to communicate and provide written document tspecialists regarding appropriate pathologic diagnosis, claboratory and radiographic studies.

Provide psychosocial support to children and their familicoping with the diagnosis of Histiocytosis.

Collaborate with specialist in a multidisciplinary setting treduce the need for the family for multiple clinic visits.

Promote patient and family education. Emphasize the need for long-term care by multidisciplina

team especially those with extensive multisystem diseastreated with systemic chemotherapy.

Stimulate differentiation of group of specialized cells

Dendritic cells Langerhan’s cell

Enhance “antigenpresenting

capacity to B & Tcells

Phagocytizeantigen

(immaturestate)

Responsiblefor B & T cell

activation

Induction of immune response

Increased expression of inhibitoryproteins capable of inhibiting death

receptor-mediated apoptosis

Increased proliferation ofdendritic cells

Upregulates expression ofMHC & co-stimulatory

receptors

B & T cell activation, increasedsecretion of cytokines

Creation of permissiveimmunosurveillance system

Failure of immune responseto recognize tumor

Increased tumor growthproliferation

Move into tissues(epidermal layer)

Results ingranulomatous

lesions

Sign and Symptoms

Children:

Abdominal pain

Bone pain (possibly)

Delayed puberty

Ear drainage thatcontinues long-term

Eyes that appear t stick out(protrude) more and more

Irritability

Failure to thrive

Frequent urination

Headache, dizziness, fever

Jaundice

Mental deterioration Rash (petechiae or

purpura)

Swollen lymph glands

Thirst, vomiting, weightloss

Adult:

Bone pain

Chest pain

Cough

Fever

General discomfort,uneasiness, malaise

Irritability

Increased urine output

Rash

Shortness of breath

Thirst

Weight loss

Tests in children:1. Bone XRay Reveals a “punched

out” look of the skull Find out how many

bones are affected2. Bone Marrow & Skin

Biopsy Presence of

Langerhans cells

3. CBC ct.- Hgb,

WBC, platelet ct

Tests in adult:1. Bronchoscopy with

Biopsy Reveals presence of

pulmonary

histiocytosis2. Chest XRay

Ruke out infectionand presence ofnodular infection

3. Pulmonary functiontest

Prognosis

80% of children who develop LCH will recover from it. A small number of children may develop side effects suc

reduced growth impairment, infertility, cardiac andpulmonary abnormalities and secondary malignancies myears later because the treatment they have received.



A neoplasm of thymic epithelial cells


Diagnostic Exams

Causes/Risk Factors

Predisposing Factors: Age- 40 y/o above

Gender- both men & women areat risk

Precipitating Factors: Presence of paraneoplastic syndromes

Myasthenia Gravis Lambert-Eathon Myasthenic Syndrome Subacute sensory neuropathy Red cell aplasia Immunodeficiency

Medical Management

Surgery

Thymectomy Radiotherapy Chemotherapy

Cisplatin, Epirubicin, Etoposide- 3 courses repeaq3wk before and after surgery

Cisplatin, Doxorubicin, Cyclophosphamide- 2-4 cq3wk ff by radiation

Corticosteroid

Prednisone (Deltasone) Immunoglobulin(Ig) therapy Prophylactic antibiotics

Nursing Manageme

Provide supportive care such as administeringprophylactic antibiotics, corticosteroid and IVIG asprescribed.

Promote patient and family education regardingtreatment procedures, diagnostic results and progof the disease.

Provide psychosocial support to patient and his/hefamily on coping with the diagnosis of Thymoma.

Collaborate with specialist in a multidisciplinary se Emphasize that recurrence can occur after resectio

and a long-term monitoring for complications succompression syndrome.

Prognosis

Patients with invasive metastatic tumor, tracheal vascular compression, age younger than 30 yearsepithelial or mixed histology, and tumor size of mthan 8 cm have poor prognosis.

Recurrence after resection is possible. Presence of Myasthenia Gravis is thought to have

favorable prognosis.

Dysregulation of lymphocyte negative & positive selection process

Abnormal proliferationof thymic epithelialcells

Immunodeficiency

May invade surroundingfatty tissue, mediastinal

pleura, pericardium, greatvessels, lungs and spreadto lymph nodes & blood

Encapsulated tumor spreads locally

Formation ofautoantibodies to synaptic

receptors at theneuromuscular junction

and various neuromuscular antigens

Failure of the Tlymphocytes to mature

Skeletal muscle weakness(Myasthenia Gravis),

hyperactivity of peripheralmotor nerves, muscle

twitching, and muscle cramps(Neuromyotonia)

Hypogammaglobulinemia/Agammaglobulinemia

Autoimmunity

Immunosupression

Sign and Symptoms

Chest pain

Dyspnea

Dysphagia

Cough

Bleeding

Muscle weakness

Paresthesia

Fever and malaisesecondary to infection

1. Lab Studies

CBC ct.- Hgb, WBC, platelet ct Quantitative Immunoglobulins (Igs)- reveals

panhypogammaglobulinemia Immunophenotypic analysis of peripheral blood

lymphocytes- shows absent or very low B cell ct &

absolute CD4+ T-cell no.2. Imaging studies

Chest Radiography- mediastinal widening onposteroanterior (PA)views or retrosternalopacification on lateral views

Chest CT scan or MRI- reveals the morphology ofthe mass and detect fat invasion, cysts or necrosis

3. Biopsy

Fine-needle aspiration or core biopsy4. Histologic findings

characterized by mixture of epithelial andlymphoid tissue and usually encapsulated




Diagnostic Exams

Causes/Risk Factors


Age- 20 y/o below

Gender- both men & women areat risk


Congenital defects CNS and GU tract malformation

Males with cryptorchidism

Structural chromosome abnormalities(chromosome #12)

Extra or missing sex chromosomes

Klinefelter’s syndrome (in males)

Medical Management

Surgery

Gross total resection of tumor Radiotherapy Chemotherapy

Cisplatin, Etoposide and Bleomycin BMT Hormonal replacement (if necessary) Supportive care (for the effects of treatme Prophylactic antibiotics

Nursing Manageme

Provide supportive care such as administerinprophylactic antibiotics, nutritional supplemor feeding via enteral tube or parenteral.

Promote patient and family education regardtreatment procedures, diagnostic results andprognosis of the disease.

Provide psychosocial support to patient andhis/her family on coping with the disease.

Emphasize the possibility of impotence in olclients and address issues about sexual ident

Monitor all patients with sacrococcygeal terawith serial rectal exams and serum markers qfor the first 3 years to detect signs of recurre

Prognosis

Prognosis improves over time and when diagnosis andtreatment is done early.

Generally, the younger the patient is, the better their chances of survival.

Abnormal migration of germ cells during embryogenesis

Extragonadal germcell tumor

Uncontrolled cellgrowth and tumor

formation

Misplacement of germcells to other location in

the body (eg.mediastinum, pelvis, head,

neck)

Incomplete or abnormal

development ofreproductive system

Sign and Symptoms

A malignant or non-malignant (benign) neoplasm that are comprised mostly of germ cells thatarise to the formation of male & female reproductive organs

Widespread distribution ofgerm cells to multiple sites

Germ cells fail tofollow midline paththrough the body

Failure of ovarian cells todescend into the pelvisand testicular cells into

the scrotal sac

Attaches to surface ofadjacent organs

Ovarian tumor Abdominal swelling

Testicular tumor

Presence of mass usually associated with pain Mediastnal tumor

Chest pain, breathing problems, cough & fever Presacral tumor

Mass in the lower abdomen or buttocks

Difficulty in passing urine

Difficulty in bowel movement Pineal gland tumor

Headache, N/V, memory loss, lethargy, difficulty walking,inability to look upward, uncontrolled eye movements or double vision and puberty at an abnormally young age

Sacrococcygeal tumor Consti ation, le weakness, incontinence

1. Lab Studies Alpha-Feto Protein (AFP) level- elevated Human Chorionic Gonadotropin (HCG) level- elevated Lactate Dehydrogenase level- elevated

2. Imaging studies

Chest Radiography- used to detect metastasis

Abdominal and Pelvic CT scan & MRI- essential for staging abdominal and pelvic tumors

Bone scan- detect bone metastasis3. Biopsy




Diagnostic Exams

Causes/Risk Factors


Age- 50 y/o above

Race- African Americans (more at riskthan whites)

Gender- both men & women are at risk

Family history of colon cancer or polypsFAP


Previous colon cancer or adenomatous polyps

History of inflammatory bowel disease (IBD)

High-fat, High protein (high intake of beef), lowfiber diet

Genital cancer (endometrial, ovarian or breastcancer

Medical Management

Surgery Colostomy

Ileostomy Radiotherapy Chemotherapy

5-fluorouracil and levamisole regimen IV fluids and nasogastric suction- for signs of intestin

obstruction Blood component therapy- for active bleeding

Nursing Management

Monitor for signs of complication which include bowelperforation with peritonitis, abscess or fistula formatiohemorrhage (signs of shock), and complete intestinalobstruction.

Monitor for signs of bowel perforation which include loblood pressure, rapid and weak pulse, distended abdomand elevated temperature.

Monitor for signs of intestinal obstruction which includvomiting (may be fecal contents), pain, constipation, anabdominal distention.

Provide comfort measures. Auscultate bowel sounds. Note that in intestinal

obstruction, a hyperactive bowel sound may be heard f(early sign) then hypoactive bowel sounds as obstructioprogresses.

Prepare patient for radiation preoperatively andpostoperatively.

Prepare patient for chemotherapy postoperatively.

Prognosis

Patients who were diagnosed early and undergoprompt treatment have 5-year survival rate of 90%.

Survival rates after late diagnosis are very low.

Mutation of APC(Adenomatous

Polyposis gene)

Deficient DNAmismatch repair

system

Activation ofoncogene (C-myc,

KRAS)

Abnormal DNA

methylation

Sign and Symptoms

a malignancy in the cells lining the bowel wall or develop as adenomatous polyps in thecolon or rectum

Deactivation oftumor suppressor

genes (p53)

Proliferation of cancer cells to the epitheliallining of the intestine

May invade and extend

to the surroundingtissues

Metastasis(most often to the

liver)

Change in bowel habits Passage of blood in stool

Unexplained anemia, anorexia, weight loss and fatigue

Abnormal stools

Ascending colon tumor: diarrhea

Descending colon tumor: constipation or somediarrhea, flat ribbon-like stool caused by partialobstruction

Rectal tumor: alternating constipation and diarrhea

Guarding or abdominal distention, abdominal mass (latesign)

Cachexia late si n

1. Lab Studies4. Fecal occult blood test- shows presence of blood in

the stool2. Imaging studies

Colonoscopy with biopsy- reveals presence of massin the colon or rectum with elevation ofcarcinoembryonic antigen (CEA) on cytologicfindings

Barium enema

Proctosigmoidoscopy




Diagnostic Exams

Causes/Risk Factors


Age- 60 y/o above

Gender- more common in men

Race- more common in whites

Family history


Exposure to radiation and certain chemicals(benzene and alkylating)

Genetic abnormalities

Congenital disorders- Down syndrome,Fanconi anemia

Medical Managemen

Induction Therapy

High dose of Cytarabine (CYtosar), Daunorobuci(Cerubidine), Mitoxantrone (Novantrone) or Idarubicin (Idamycin)

Consolidation therapy

One cycle of treatment of chemo agents at lowedosage

BMT or PBSCT Supportive care

PRBCs and platelets

Antimicrobial therapy (antibacterial or antifungaAmphotericin, ciprofloxacin, Fluconezole, Acyclo

Allopurinol (Zyloprim, Aloprim)

Granulocytic stimulating growth factors (G-CSF)

Nursing Manageme

Initiate neutropenic precautions. Initiate bleeding precautions. Provide optimal nutrition by giving high-caloric foo

and performing oral care regularly. Provide comfort measures to relieve pain and

discomfort. Advise patient to limit physical exertion to prevent

fatigue. Maintain fluid and electrolyte balance by monitori

electrolyte and ABG values as well as fluid status.

Provide psychosocial support to the patient and fa Promote client’s self-care by providing him/her wit

teachings about certain procedures. Encourage spiritual well-being.

Prognosis

Patients who are older or have more undifferentiatedform of AML have poor prognosis.

Patients having leukemia stemming from preexistingMDS have poor prognosis.

Patients who previously received alkylating agents for cancer survive an average of <1 yr.

Patients who are younger may survive for 5 years or more after diagnosis.

Patients receiving supportive care usually surve ,1 yr,dying of infection and bleeding

Sign and Symptoms

A malignant disease of the bone marrow in which the hematopoietic precursors arearrested in an early stage of development

Somatic mutation inthe DNA

Abnormalhematopoiesis

Impaired cellproliferation control

Myeloblast abnormality

Freeze cell maturationUncontrolled growthof immature clone of

cells

Arrest celldifferentiation

Accumulation inthe bone marrow

Spillage of abnormalcells in the

bloodstream

Organ infiltration(spleen, liver, CNS)

Decreased productionof normal blood cells

Weakness, fatigue

Hypotension, tachycardia,tachypnea

Fever

Ecchymoses, petechiae

Hepatosplenomegaly

Bone pain

Abdominal ain

Blood Studies5. CBC ct.- Hgb, , platelet ct, high or normal WBC

ct.

6. Coagulation studies- PTT, Fibrinogen

7. Blood chemistry profile- uric acid, lactatedehydrogenase (LDH)

Imaging studies

UTZ- shows enlargement of liver and spleen Biopsy

Bone marrow aspiration Histologic findings




Diagnostic Exams

Medical Management

Tyrosine Kinase Inhibitor Imatinib mesylate (Gleevec) daily

Interferon-alfa (Referon-A) & cytosine Oral chemotherapy agents

Hydroxyurea (Hydrea)

Busulfan (Meleran) Leukapharesis BMT or PBSCT Induction therapy

Nursing Manageme

Initiate neutropenic precautions. Initiate bleeding precautions. Provide optimal nutrition by giving high-ca

foods and performing oral care regularly. Provide comfort measures to relieve pain a

discomfort. Advise patient to limit physical exertion to

prevent fatigue. Maintain fluid and electrolyte balance by

monitoring electrolyte and ABG values as wfluid status.

Provide psychosocial support to the patienfamily.

Promote client’s self-care by providing himwith teachings about certain procedures.

Encourage spiritual well-being.

Prognosis

Patients diagnosed with CML in chronic phase mayhave 3-5 years survival.

Patients whose diagnosis transforms to acute phase

may only have few months’ survival.

Sign and Symptoms

A myeloproliferative disorder characterized by increased proliferation of thegranulocytic cell line without the loss of their capacity to differentiate

Causes/Risk Factors


Age- 40- 60 y/o & above


Chromosomal translocation

Ex osure to radiation or chemicals

Translocation of BCR gene on chromosome 22 (Ph1) to ABL gene onchromosome 9

Fusion of these two genes (BCR-ABL gene)

Release of tyrosine kinase protein

Rapid division and proliferation of leukocytes

Shortness of breath

Confusion

Hepatosplenomegaly Abdominal pain

Malaise, anorexia, weight loss

Bleeding tendencies

1. Lab Studies

CBC ct.- RBC, WBC, platelet ct2. Imaging studies UTZ- shows enlargement of the spleen and liver

3. Biopsy




Causes/Risk Factors

Predisposing Factors: Age- 4 y/o & below

Gender- more common in boys

Precipitating Factors: HTLV-1 virus

Exposure to radiation or chemicals

Family history of leukemia

Genetic abnormalities


Medical Management

Prophylactic cranial irradiation or intrathecal chemotherapy

Methotrexate Induction therapy

Corticosteroids & vinca alkaloids Tyrosine Kinase Inhibitor

Imatinib mesylate (Gleevec) Monoclonal antibody

Alemtuzumab (Campath) BMT or PBSCT

Nursing Management

Prognosis

Age. Younger patients (especially those younger than age 50) have a better prognosis than older patients.

Initial white blood cell (WBC) count. People diagnosed with a WBC count below 50,000 tend to dobetter than people with higher WBC counts.

ALL subtype. The subtype of T cell or B cell affects prognosis. For example, patients with T-cell ALLtend to have a better prognosis than those with mature B-cell ALL (Burkitt leukemia.)

Chromosome translocations. People who have Philadelphia chromosome-positive ALL tend tohave a poorer prognosis, although new treatments are helping many of these patients achieveremission.

Response to chemotherapy. Patients who achieve complete remission (disappearance of signs andsymptoms of cancer) within 4 - 5 weeks of s tarting treatment tend to have a better prognosisthan those who take longer. Patients who do not achieve remission at any time have a poor prognosis. Evidence of minimal residual disease (presence of leukemia cells in the bone marrow)may also affect prognosis.

Other factors, such as central nervous system involvement or recurrence, may also indicate aoorer ro nosis.

Somatic mutation in the DNA

Activate oncogen/ deactivate tumor

suppressor gene

Uncontrolled proliferation of lymphoblastin the bone marrow

Malignant transformation oflymphoid stem cells

Sign and Symptoms

A form of leukemia or cancer of the blood characterized by

increased lymphoblasts

Weakness, fatigue

Hypotension, tachycardia,tachypnea

Fever

Ecchymoses, petechiae

Hepatosplenomegaly

Bone pain

Abdominal pain

Headache

Vomiting

Diagnostic Exams

1. Lab Studies

CBC ct.- RBC ct, or WBC ct, platelet ct2. Imaging studies

UTZ- shows enlargement of the spleen and liver 3. Bone marrow biopsy

Initiate neutropenic precautions. Initiate bleeding precautions. Provide optimal nutrition by giving high-caloric

foods and performing oral care regularly. Provide comfort measures to relieve pain and

discomfort. Advise patient to limit physical exertion to

prevent fatigue. Maintain fluid and electrolyte balance by

monitoring electrolyte and ABG values as well asfluid status.

Provide psychosocial support to the patient and

family. Promote client’s self-care by providing him/her with teachings about certain procedures.

Encourage spiritual well-being.

Lymphoblasts replace thenormal marrow elements

Decreased production of normalblood cells

Spillage of lymphoblast into the bloodstream

Organ infiltration




Diagnostic Exams

Causes/Risk Factors


Age- 10-25 y/o above Gender- most frequent in

males

Heredity


Older people with Paget’s disease Exposure to carcinogens

Medical Managemen

Surgery

Limb-sparing (salvage) surgery whepossible or amputation in some cas

Radiotherapy Combined Chemo Palliative care

Analgesics

Nursing Manageme

Administer prescribed IV or epidural analgesics duearly postoperative period.

Support and handle the affected extremities gentduring nursing care.

Teach patient how to use assistive devices safely ahow to strengthen unaffected extremities.

Explain all diagnostic procedures, treatments andexpected results.

Monitor and manage potential complication suchdelayed wound healing, osteomyelitis, woundinfection, inadequate nutrition.

Assist patient in dealing with changes in body whmay be due to surgery and possible amputation.

Encourage the patient and family to verbalize thefears, concerns and feelings.

Prognosis

Prognosis is worse if patient seeks health care whenthe tumor has metastasized to the lungs.

Adjacent normal bonealters normal pattern of

remodeling

Primary tumors cause bonedestruction

Weakness the structure ofthe bone

Bone enlargement near tumor area

Sign and Symptoms

A malignant connective tissue tumor whose neoplastic cells present osteoblasticdifferentiation and form tumoral bone

Characteristic pathologicfracture

Pathologic fracture

Bone pain

Limited ROM Weight loss

Palpable , tender & fixed bonymass

Edema, warmth and venousdistention over the mass

Lab Studies

Serum alkaline phosphatase – elevated

Serum calcium level- elevated Imaging studies

XRay, CT Scan, MRI- shows presence of pathologicfracture and site of bone tumor

Chest XRay- determine presence of lung metastasis

Surgical bone biopsy- determine histologiccharacteristics of the tumor




Diagnostic Exams

Medical Management

Surgery

Resection of the tumor, lobectomy or pneumonectom Radiotherapy Chemotherapy

Platinum analogues- Cisplatin & C arboplatin

Non-platinum containing agents- Taxanes (Paclitex,Docetaxel)

Vinca alkaloids- Vinblastine, Vindesine

Others- Doxorubicin, Gemcitabine, Vinorelbine,Irinotecan (CDT-11), Etoposide (VP-16), Pemetrexed(Alimta)

Tyrosine kinase inhibitor (in oral form)

Gefitinib Iressa), Erlotinib Tarceva)

Nursing Manageme

Encourage the patient to assume positions that promolung expansion.

Instruct patient how to perform deep breathing andcoughing exercise.

Perform chest physiotherapy and suctioning per physicorder to promote airway clearance.

Administer bronchodilator medications and supplemenoxygen as ordered.

Educate the patient about energy conservation techniqto reduce fatigue.

Instruct the patient and family about the potential sideeffects of specific treatment and strategies to managethem.

Prognosis

In approximately 70% of of patients with lung cancer, tdisease has spread to regional lymphatics and other sitthe time of diagnosis. As a result, long –term survival low.

Sign and Symptoms

A malignant tumor of the bronchi and peripheral lung tissue

Causes/Risk Factors


Familial history

Precipitating Factors: Cigarette smoking or exposure to second-

hand smoke

Exposure to carcinogens (eg. Radon gas,asbestos, arsenic)

Entry of carcinogens totrachea and bronchialairways by inhalation

Certain geneticexpression alters the

cellular DNA

Carcinogen binds to anddamages the epithelial cell’s

DNA

DNA further undergoes changesand become unstable

Pulmonary epithelium undergoesmalignant transformation

Dry, persistent cough

Dyspnea

Hemoptysis

Chest or shoulder pain

Recurring fever

S/S of metastasis

Chest pain & tightness Hoarseness

Dysphagia

Head & neck edema

Pleural Pericardial effusion

Imaging studies Chest Radiography- shows a solitary pulmonary

nodule (coin lesion), areas of atelectasis and infection

Chest CT scan- shows small nodules not easilydetected on CXR; examine areas for lymphadenopathy

Endoscopy with esophageal UTZ- used to obtain atransesophageal biopsy of enlarged subcarinal lymphnodes

Fiberoptic bronchoscopy- provides detailed study oftracheobronchial tree and allows brushings andbiopsies of suspicious areas

Biopsy Transthoracic fine-needle aspiration– used to

aspirate tumor cells from a suspicious area Sputum studies

Positive cytological study for cancer cells




Diagnostic Exams

Causes/Risk Factors


Age- 50 y/o & above

Gender- women are more at risk

Genetic make-up (BRCA-1 & BRCA-2 mutation)

Hormonal factors (early menarche, latemenopause, nulliparity, having first child after 30

/o, hormone thera )


Obesity

High-dose radiation exposure to chest

Increase alcohol intake

High-fat diet

Medical Management

Breast surgery

Lumpectomy, Simple mastectomy or ModifiedRadical Mastectomy

Radiotherapy

Brachytherapy, External beam radiation therapyIntraoperative Radiation Therapy (IORT)

Adjuvant Chemotherapy Cyclophosphamide, Methotrexate & Fluorouraci

(CMF) regimen Cyclophosphamide, Doxorubicin (Adriamycin),

Fluorouracil (CAF) regimen

Doxorubicin & cyclophosphamide (AC) regimen

Doxorubicin, Cyclophosphamide, Paclitaxel (Tax

(ACT) regimen Hormonal therapy

Selective Estrogen Receptor Modulators (SERMsTamoxifen

Aromatase inhibitors- Anastrazole (Arimidex),Letrozole (Femara) & Exemestane (Aromasin)

Targeted Therapy Trastuzumab (Herceptin)

Nursin Mana emen

Promote patient and family education regarding treatmentprocedures, diagnostic results and prognosis of the disease.

Provide relief measures after surgery such as encouraging thpatient to take the prescribed home analgesic and take warmshowers or use distraction methods.

Reassure the patient that the experience of variety ofsensations in the operative site is part of normal healing andthese are not indicative of a problem.

Promote patient’s positive body image. Monitor and manage occurrence of potential complications

such as lymphedema, hematoma or seroma f ormation andinfection.

Prognosis

The smaller the tumor, the better the prognosis. The further the spread of cancer (advanced stages),

the worse the prognosis.

Growth of malignant tumor in the ductal-lobular epithelial cells ofthe breast

Spread via lymph system to theaxillary lymph nodes

Metastasis to distant regions of thebody (lungs, liver, bone & brain)

Sign and Symptoms

A malignancy in the tissue surrounding the mammary duct whichtends to grow in an irregular pattern

Mass usually felt in the upper outerquadrant

Fixed, typically non-tender mass(except in late stages)

Skin dimpling

Nipple retraction or elevation

Assymetry (affected breast appearshigher)

Bloody or clear nipple discharge

Skin edema or peau d’ orange skin

S/S of metastasis

Axillary lymphadenopathy Lymphedema of affected arm

S/S of lung & bone metastasis

Breast Self Examination (BSE) presence of a lump or mass upon palpation Imaging studies

Mammogarphy- shows presence of lesion Biopsy- confirms malignancy of cells

Stereotactic needle-guided biopsy- identify non-palpable lesions in the breast which is previouslydetected with mammography

Excisional bio s




Diagnostic Exams

Causes/Risk Factors


Heredity


Helicobacter pylori infection

Diet high in smoked, salted or pickled foods

Chronic inflammation of the stomach & gastriculcers

Smoking

Achlorydia

Previous subtotal gastrectomy

Medical Management

Surgery

Total gastrectomy

Radical total gastrectomy (Billroth I & II)

Proximal subtotal gastrectomy

Gastroenterostomy- palliative procedurereduce N/V

Radiotherapy Chemotherapy (either single or in combina

5-Fluorouracil (5-FU), MItomycin C,Doxorubicin (Adriamycin), Etoposide

Oral Imatinib mesylate (Gleevec)

Nursing Manageme

1. Provide optimal nutrition.

Monitor IV therapy, nutritional status, I& O and daiweight.

Assess daily results of lab studies to note any metaabnormality.

Encourage patient to eat small, frequent portions onon- irritating foods.

Administer TPN and antiemetics as prescribed.2. Provide measures to relieve pain.3. Provide measure to reduce anxiety.4. Provide psychosocial support.

Encourage patient to express fears, concerns and gabout the disease and treatment.

Prognosis

Generally poor because diagnosis is usually made lbecause patients are asymptomatic at early stages

Malignant cells arise from the mucous lining of the stomach (usually inpyloric and antral regions)

Spread via lymphaticchannels

Metastasize topancreas and

peritoneal cavity

Sign and Symptoms

A malignant neoplasm in the stomach, usually adenocarcinoma and lymphomas

Spread viahematogenous

infiltration

Spread by penetrationcausing ulceration

Metastasize to liver,lungs and bones

Metastasize to adjacenttissue structure(esophagus &

duodenum)

Pain relieved by antacids (early disease)

Presence of palpable mass (Sister MaryJoseph’s nodule) around the umbilicus

Ascites & hepatomegaly

Bone pain

Dysphagia

Indigestion

Early satiety

Anorexia Abdominal pain (just above umbilicus)

Bloating after meals

Lab Studies

CBC ct.- Hgb Gastric juice aspiration- presence of lactic acid &

increased level of lactic dehydrogenase (LDH) Imaging studies

Upper GI XRay & Esophagogastroduodenoscopy(EGD)- confirmatory

Endoscopic UTZ- assess tumor depth and any lymphnode involvement

CT scan- identify extent of metastasis to other organs




Diagnostic Exams

Causes/Risk Factors


Age- 3 y/o & below

Gender- males are more at risk

Race- whites are 5x more frequently affected Inherited disorder Beckwith-Wiedenmann Syndrome (BWS) Familial Adenomatous Polyposis (FAP) Hemihypertrophy


Exposure to Hepa Binfection at an early age

Medical Management

Surgery

Lobectomy (resectable tumors)

Liver transplant (non-resectable tumor)

Thoracotomy & pulmonary resection of metastasis Radiotherapy Chemotherapy

Combination of Cisplatin (Platinol), Vincristine(Oncovin), 5-Fluorouracil or Doxorubicin (Adriamyci

Nursing Management

Assist in the insertion of a central line for theadministration of multiple parenteral medications.

Instruct patient’s family on the diagnosis and assistthem in choosing among the therapeutic care options

Monitor patient periodically in the clinic after eachcourse of treatment to assess for complication sandresponse to therapy.

Monitor lab results with platelet and Hgb ct. Provide supportive care such as administering blood

products and antibiotics as prescribed. Children with hemihypertrophy or BWS should be

instructed to be screened regularly for AFP levels. Emphasize the need for long-term follow-up

surveillance- monitoring of AFP levels and physicalexam.

Prognosis

Complete surgical resection of the tumor at diagnosis,followed by adjuvant chemotherapy is associated with100% survival rates but he outlook remains poor inchildren with residual disease after initial resection, evenif they receive aggressive adjuvant therapy.

Germline mutations in APC “tumor suppressor gene”

Intracellualar accumulation & mutation of theproto-oncogene Beta-catenin

APC tumor suppressor inactivation

Oncogene activation ofembryonic fetal hepatocytes

Alteration in the Wnt signaling pathway

Sign and Symptoms

A primary malignancy in the liver commonly affecting the pediatric group

Uncontrolled proliferationof cancer cells

Encapsulated tumor formation in the liver

Promotecarcinogenesis

Enlarged abdominal mass(usually arising from right thelobe)

Abdominal pain

Jaundice

Severe anemia

Anorexia

Weight loss

Lab Studies

CBC ct.- Hgb, platelet ct

Liver enzymes- elevated

AFP test- elevated (100,000-300,000 mcg/ml) Imaging studies

Abdominal XRay- reveal RUQ abd mass

UTZ- allows assessment for tumor size

CT scan & MRI- identifies involvement of nearbystructures

Radionuclide scan- evaluate bone metastasis

PET Scan- used for ff. up evaluation of hepatoblastoma Biopsy

Open biopsy or surgical resection




Diagnostic Exams

Causes/Risk Factors


Age- 1-2 y/o & above


Race- whites are more at risk

Familial history

Germline mutation in PHOX2B & MYCN

Precipitating Factors: Others- medications, hormones, birth

characteristics, congenital anomalies,previous spontaneous abortion, fetaldeath, alcohol, tobacco use andpaternal occupational exposures

Medical Management

Surgical resection or Debulking Radiotherapy Chemotherapy (in combination)

Cyclophosphamide, Doxorubicin,Carboplatin, Etoposide

BMT

Nursing Managemen

Once diagnosis is established, instruct the patient anfamily on the diagnosis and therapeutic options.

Provide detailed instructions for home care withoutpatient follow-up after completion of chemothercycle.

Monitor for CBC ct. as often as twice a week after discharge.

Administer blood product if signs of bleeding arepresent.

Periodically monitor urinary cathecholamines, physicexam and diagnostic imaging.

Prognosis

Patients with localized disease has survival rate of 70%while those having metastatic disease have a long-term survival rate of <25%.

Genetic mutation

Overexpression ofMYCN (an oncogene)

Deletion of the shortarm of chromosome 1

Absence or decreasein tumor suppressor

genes

Sign and Symptoms

A tumor that arise from the embryonic neural crest cells and the most common extracranial solid tumor in children

Allelic losses ofchromosome 11q,

14q, & 17q

Amplification of distalarm of chromosome 2

Neural crest rapidtumor progression

Migrate & invaginate thesympathetic ganglia, adrenal

medulla and other sites

Abdominal pain

Vomiting

Weight loss

Anorexia

Fatigue

Bone pain

S/S of hypertension

Neck or facial swelling

Bruising above the eyes

Periorbital edema (metastasis to skull bones)

Bruising of the skin (bone marrow metastasis)

Lymphadenopathy

Lab Studies

CBC ct.- Hgb, WBC, platelet ct

Urine test- presence of HVA (Homovanillic acid) andVMA (Vanillylmadelic acid)

Imaging studies Chest and abdominal CT Scan & MRI- determine site

of tumor and evidence of metastasis

Chest XRay & Bone Scan- i dentify metastasis Fluorescent in situ hybridization (FISH)

Health Teaching

Educate the patient and family about the importanctreatment and adverse effects of medications used.

Emphasize the need to recognize and identify signs symptoms of complications that require urgent medcare.




Diagnostic Exams

Causes/Risk Factors


Age- late teenage years


Race- whites males are more at risk



Medical Managemen

Surgery Removal of fibula, limb salvage o

extensive margins Radiotherapy Chemotherapy- 6-9 mos of alternat

courses of 2 chemo regimens

Doxorubicin, CyclophosphamideVincristine

Ifosfamide & Etoposide

Nursing Managem

Promote patient and family education regardingtreatment procedures, diagnostic results and progof the disease.

Collaborate with specialists such as an orthopediconcologist, neurologist and pathologist in amultidisciplinary setting.

Initiate neutropenic and bleeding precautions. Administer blood products as ordered. Obtain full physical exam before each cycle of

chemotherapy. Provide teachings about expected complications

articularl fever and its mana ement.

Prognosis

At this time, the only significanfactor that determines theprognosis is the presence of orabsence of metastatic disease

Reciprocal translocation between chromosome 11 & 22 [t (11; 22)]

Sign and Symptoms

A highly malignant primary bone tumor that is derived from neural crest cells

EWS-FLI1 fusion generate “68 kDA protein”

Abnormal gene transcription factor

Tumor growth usually deriving from neural crest cells

Transforms fibroblasts

Back pain

Palpable mass

Fever, weight loss

Lesions of long bones &pathologic fractures

Bleeding & infection- bonemarrow metastasis

Numbness, weakness & pain inthe extremities

Cytogenetic & Molecular studies Presence of t(11;22) Imaging studies CT Scan & XRay- delineate bony involvement

Chest CT scan, Radioisotope Bone Scanning &MRI - used for evaluation of metastasis

Biopsy

For definitive diagnosis Histologic findings

Staining with MIC2 (12E7) antigen (CD99)




Diagnostic Exams

Causes/Risk Factors


Age- 1-5 y/o, 15-19 y/o (rare)

Genetic syndromes Neurofibromatosis Li- Fraumeni syndrome Rubinstein-Taybi syndrome Beckwith- Weidenmann syndrome


Parental use of marijuana &cocaine

Intrauterine exposure to XRAY

Previous exposure or use ofalkylating agents

Medical Management

Surgical resection

For primary and feasible tumor Radiotherapy Chemotherapy

Etoposide, Cyclophosphamide, Dactinomycin,Vincristine, Ifosfamide, irinotecan

Nursing Managemen

Provide supportive care such as administering feeding venteral tube or parenteral if indicated especially thosehaving primary tumor in the head or neck or who may hamucositis after chemo.

Promote patient and family education regarding treatmeprocedures, diagnostic results and prognosis of the dise

Provide psychosocial support to patient and his/her famon coping with the disease.

Initiate neutropenic precautions and continue to assesspatient for having fever indicative of infection.

Emphasize the need for long-term follow up care and torecognize and identify signs and symptoms of complicatthat require urgent medical care.

Prognosis

Patients with localized disease hassurvival rate of 80% while thosehaving metastatic disease have along-term survival rate of <30%.

Reciprocal chromosomal translocation t(2;13) or t(1;13)

Activate N-Ras & K-Ras oncogene

Metastases(lungs, bone marrow, bony

lymph nodes, breast & brain)

Formation ofrhabdomyeblasts in the

head & neck, extremities,GU tract, trunk, orbit or

retroperitoneum &mucosal cavities

Repress t53

Sign and Symptoms

Most common tissue sarcoma (cancer of connective tissues) in children in which cancer cells are thought toarise from skeletal muscle progenitors. Has 2 common forms: Embryonal RMS & Alveolar RMS

PAX3-FOXO1a or PAX7-FOXO1a (potent transcriptionactivator) fusion

Orbit- proptosis or dysconjugategaze

Paratesticular- painless scrotalmass

Prostate- bladder or boweldifficulties

Uterus, cervix, bladder-menorrhagia or metrorrahagia

Vagina- protruding polypoid mass

Extremity- painless mass

Parameningeal- upper respiratorysymptoms or pain

S/S of metastasis

Bone pain

Respiratory difficulty

Anemia,Thrombocytopenia,neutropenia

Lab Studies

CBC ct.- Hgb, WBC, platelet ct Urinalysis- hematuria (involvement of GU tract) Imaging studies Chest Radiography- determine presence of calcification

CT scan, MRI, UTZ (lungs, chest, bone, liver)- assess extent ofmetastases

Biopsy

Open biopsy or core needle biopsy Procedures

Cytogenetics/ Fluorescent in situ hybridization (FISH)-

determine translocations Reverse transcriptase testing (RT-PCR)- assess translocation

assoc. with ARMS Histologic findings Immunohistochemical marker test- (+) myoD1 and myogenin

roteins or m o lobin actin desmin




Diagnostic Exams

Causes/Risk Factors


Age- newborn

Genetic disorder Noonan syndrome Trisomies 13, 18, 21 Turner syndrome Down syndrome


Maternal alcohol use

Viral infections duringpregnancy

Medical Managemen

Surgery

Surgical excision of tumors, hypertonicsaline sclerotherapy, cryotherapy, LASEcautery

Intralesional OK 432 (Picibanil)- for macroclesions only

Postop vacuum assisted closure device Decreases risk of recurrence & infection

Pro ranolol

Nursing Manageme

Institute infection precaution. Instruct the patient’s family not to expose the ch

to any source of radiation to prevent progressiondisease to lymphangiosarcoma(complication).

Monitor the patient for occurrence and possiblerecurrence of cellulitis. Regularly perform skinexamination.

Provide reassurance to the family and stress out trisk of recurrence of the disease.

Provide supportive measures such as performingtracheostomy care, monitoring respiratory probleadministering enteral feeding secondary todysphagia.

Prognosis

Lymphangiomas are benignhamartomatous malformationsinstead of true neoplasms. Theprognosis for lymphangioma isexcellent.

Sign and Symptoms

An uncommon congenital malformation of the lymphatic system that involve the skin and subcutaneous tissues

Imaging studies

MRI- help define the degree of involvement andentire anatomy of the lymphangioma lesion

Immunohistochemical studies

Factor VIII-related antigen test- differentiatehemangioma from lymphangioma (negative or weakly positive in lymphangioma)

Dermoscopic Findings

Aid in the diagnosis of lymphangiomacircumscriptum

Histologic findings

Failure of the primitive lymph sac to connect with the rest of thelymph system during embryogenesis

Alignment of a thick coat of muscle fibers to theprimary sac

Rhythmic contraction of muscle fiber i ncreasesintramural pressure

Protrusion of dilated lymphchannels from the walls of the

cisterns toward the skin

Collection of lymphaticcisterns in the deep

subcutaneous plane or dermis (loose connective

tissue)

Formation of characteristic“vesicles” (in lymphangioma

circumscriptum) asoutpouchings of the dilated

lymph channels

Cavernousl m han ioma

Cystichygroma

Lymphangioma circumscriptum

Small clusters of vesicles (2-4 mm) thatvary from pink to black color secondary to hemorrhage

Can have a warty appearance Cavernous lymphangioma A subcutaneous rubbery nodule with

no skin changes Cystic hygroma

Deep, subcutaneous swelling of theaxilla, neck, groin (larger thancavernous l m han ioma




Diagnostic Exams

Causes/Risk Factors

Predisposing Factors: Age- at birth or several weeks of life

Race- more common in whites

Gender- females are more at risk


Fetal hypoxia

Increased VEGF release-placental response toangiogenesis during pregnancy

Missense genetic encoding for VEGFR2

Medical Managemen

Surgery

Surgical excision

LASER surgery Beta blockers- Propranolol (Inderal) Oral and topical corticosteroid- Prednisol Interferons Biologic immune response modifiers-

Imiquimod (Aldara cream)

Nursing Manageme

Educate parents about the variable natural hisprognosis, risks and benefits of potentialtreatment and possible complication.

Provide emotional support to parents of childwith severe or complicated hemangioma.

Refer patients with significant complications as visual and airway obstruction to specializedpediatric physician.

Prevent infection and severe bleeding fromulcerated hemangioma.

Prognosis

Patients with uncomplicated hemangioma havegood prognosis but may have residual skin changor scar formation.

Hemangiomas that are take time to involute andexists in the lip, nasal tip, eyelid and ears haveincreased incidence of permanent cutaneous

Sign and Symptoms

A benign, and usually a self-involuting tumor (swelling or growth) of the endothelial cells that line blood vesselsand is characterized by increased number of normal or abnormal blood vessels filled with blood.

Lab Studies

Presence of serum VEGF

Presence of urinary beta-fibroblast growth factor, VEGF andmatrix metalloproteinases (MMPs)

Imaging studies

MRI w/ or w/o IV gadolinium- delineate the extent of both

cutaneous and extracutaneous hemangiomas, differentiateother high-flow vascular lesions UTZ- differentiate hemangioma from other deep dermal or

subcutaneous lesions such as cysts or lymph nodes Plain radiographs- evaluate hemangiomas that impede on the

airway Biopsy

Skin biopsy- distinguish unusual or atypical hemangioma fromother vascular lesions

Increased angiogenetic peptides(beta- fibroblast growth factor, VEGF, proliferating cell nuclear

antigen)

Induce proliferation of immatureendothelial cells

Increased proliferative capacity ofendothelial cells

Influx of mast cells, myeloid cells andtissue inhibitors of metalloproteinases

TIMPs) occurs

Passive induction of involution bysenescence of endothelial cells

Immatureendothelialcells coexist

with immaturepericytes

during the 3rd trimester ofpregnancy

Causes termination ofendothelial cell proliferation

Early signs

Blanching of involved skin followed by fine telangiectasias and a red or crimson macule

Birth-12 months (periods of active proliferation) Lesions may be dome-shaped, bosselated or plague-like Color-can be bright red or cri mson, purple-blue or flesh-colored

Size- size of pinhead to >20cm in diameter Telangiectases & large superficial veins radiating from the

hemangioma is evident

Consistency- firm, rubbery, tense & expands with increasedintravascular pressure (eg.crying)

Tender to palpation Birth or as late as 2-3 y/o (periods of involution)

Superficial lesions become less red, from duskier maroon to purple

color to regaining normal flesh tones or “graying” Softer, more compressible with decreased tenderness, decreased

expansion

Late involution (5-7 y/o) Skin may return to normal 50-60% leaves permanent skin changes

Diseases With Cellular Abberation

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