hepatoblastoma By: Brittni McClellan - PowerPoint Presentation

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hepatoblastoma

By: Brittni McClellan

Hepatoblastoma description

Description:

Most common form of liver cancer in children.

Tumor Marker: AFPCan also secrete b-hCGPathophysiology:Originate from Immature Liver Precursor CellsGenetics:Loss of Heterozygosity of the Chromosome Arm 11p.Associated with Beckwith-Wiedemann Syndrome (BWS)

Hepatoblastoma – H&P

Signs and Symptoms:

Asymptomatic Abdominal Mass

Isosexual Precocity:Penile/Testicular Enlargement without Pubic HairAnorexiaTalipes EquinovarusPersistent Ductus ArteriosusTetralogy of FallotExtrahepatic Biliary AtresiaRenal Anomalies

Hepatoblastoma - Diagnosis

Diagnosis:

CBC:

Normochromic Normocytic AnemiaThrombocytosisOther LabsLiver Enzyme Levels Elevated in 15-30%AFPAs high as 100,000-300,000Biopsy:Open Biopsy or Complete Surgical Resection

Imaging:

Radiography:

Mass in RUQ of Abdomen

U/S:

CT:

Reveals involvement of nearby structures

Reveals if Pulmonary Metastases are present

MRI:

Superior to CT if CT is inconclusive.PET:Follow-Up EvaluationRadionuclide Bone Scanning:Reveals Bone Metastases

Hepatoblastoma – treatment

Medication:

Cisplatin: Most active single agent

Cisplatin/5-FU/Vincristine ComboRadiotherapyResection/Transplantation

Neuroblastoma description

Description:

Most Common

Extracranial Solid Tumor of ChildhoodMost Common Malignancy of InfancyPathophysiology:Derived from Neural Crest CellsArises anywhere along the Sympathetic Chain of the Peripheral Nervous SystemMost Common: Adrenal MedullaGenetics: Due to Inherited Mutations in the ALK Tyrosine Kinase

Associated with N-MYC OncogeneAssociated with Congenital Central Hypoventilation Syndrome and PHOX2B Mutations.

Small Round Blue Cell Tumor

Homer Wright Rosettes

Bombesin

+

neuroblastoma – H&P

History:

General Appearance, Activity Level, and Appetite

Based on Tumor Location:Thoracic:Chest Pain, Cough, Respiratory DistressAbdominal:Pain, SwellingBone Marrow:Fatigue (Anemia)Associated ConditionsNeurofibromatosis Type IHirschsprung Disease

Central Congenital Hypoventilation Syndrome

Signs and Symptoms:

Based on Location:

Abdomen:

Firm, Fixed, Irregular Mass

Abdominal Distention

Signs of Bowel Obstruction

Hypertension (RAS)

Genital/Lower Extremity Edema (Lymphatic Obstruction)Cervical/Thoracic Mass:Respiratory DistressHorner SyndromeSuperior Vena Cava SyndromeParaspinal Mass:

Nerve Root CompressionMetastatic Disease SymptomsBone Metastases (Pain)Bony Orbit

neuroblastoma – H&P

neuroblastoma - Diagnosis

Diagnosis:

CBC:

Decreased Hemoglobin, Platelets, and/or WBC indicate Bone Marrow InvolvementUrine Catecholamine Metabolites are Elevated:Homovanillic Acid (HVA)Vanillylmandelic Acid (VMA)ImagingU/S or CT: Find Primary TumorTumor is CALCIFIEDMIBG Scan:

Taken up by 90% of NeuroblastomasCan detect bone/soft tissue involvementBone Scan: Find Bone Mets

neuroblastoma – treatment

Medication

Vincristine, Doxorubicin, Cyclophosphamide, Cisplatin, Carboplatin. Etoposide, Topotecan

13-cis-Retinoic Acid: Induces differentiation of Neuroblastoma Cells and Improves Survival Immunotherapy: Antibodies against GD2Possibility of Spontaneous Regression

retinoblastoma description

Description:

Most Common Primary Intraocular Tumor

Malignant Tumor of the Embryonic Neural RetinaPathophysiology:Loss of function of both copies of the RB1 gene Located on Chromosome 13Spreads via the Optic NerveVitreous Seeding: Tumor Cells Break OffTwo Forms:Hereditary Retinoblastoma

45% of all RB1 RB Gene is Dysfunctional in all cellsNon-Hereditary Retinoblastoma55% of all RB2 acquired mutations must occur in a single retinal cell.

retinoblastoma – H&P

Patient History:

Family History

Leukocoria (White Pupil)StrabismusRare: Pain, Inflammation, Vision ProblemsMetastatic Symptoms:Neurological Signs, Orbital Masses, Bone Pain, Anorexia, CytopeniaAssociated Conditions:13q Deletion SyndromeRB, Dysmorphism, Mental Retardation, GU AnomaliesHigh Risk of Osteosarcoma in the Future

Physical Exam:Only 3% discovered on routine fundoscopic examinationLeukocoria/StrabismusCheck for Red Reflex in Darkened RoomScreen for RB in OfficeEvaluate AnisocoriaUnequal Pupils

retinoblastoma - Diagnosis

Diagnosis:

Ophthalmologic Examination

By a specialist in pediatric ocular tumorsBiopsy:Biopsy confirmation is RARE.Risk of seedingCBC:Asses for Bone Marrow involvementCSF CytologyEvaluation of Leptomeningeal SpreadChromosome AnalysisOnly 5% are detectable, but should be done anyways.

Imaging:

CT/MRI:

Evaluation of Primary Tumor

Evaluation of any metastases.

retinoblastoma – treatment

Medication

Eradicate Tumor/Eye Salvage Therapy

Plaque Radiotherapy: Radioactive seeds sewn into episcleral surface about RB lesion.Provides local radiation to the tumorExternal Beam Radiation TherapyPhotocoagulation:CryotherapyLocally Delivered ChemotherapySystemic Chemotherapy

Tumor Resection with Enucleation

Wilms tumor (Nephroblastoma) description

Description:

Malignant Tumor of the Kidney

Also called NephroblastomaPathophysiology:10-20% Hereditary Associated with WAGR, Beckwith-Wiedemann, and Denys-Drash SyndromesTumor Suppressor Gene: WT1 on Chromosome 11p13WT2 on Chromosome 11p15

Wilms tumor – H&P

Patient History:

Family History

Abdominal Distention/PainHematuriaFever, Anorexia, VomitingRapid Increase in Abdominal SizePhysical Exam:Asymptomatic Abdominal MassExtends from Flank Towards Midline

AnemiaFeverHypertensionVaricoceleAniridia, Hemihypertrophy, Cryptorchidism, HypospadiasProteinuria/Hematuria

Wilms tumor - Diagnosis

Diagnosis:

Labs:

CBC, Electrolytes, Urine Analysis, Liver and Kidney Function Tests, Coagulation FactorsImaging:U/S:Diagnostic of Renal MassEvaluations extention into Inferior Vena CavaCT Scan:Evaluate for MetastasesBone Scan:Evaluate for Metastases

Pathology:

CT/MRI:

Gross:

Cystic with hemorrhages and necrosis.

No calcification

May extend into Inferior Vena Cava

Histology:

Triphasic Pattern: Blastemal, Epithelial, and Stroma Cells

Blastemal Cells aggregate in nodules like primitive glomeruliThe presence of diffuse anaplasia indicates poor prognosis.

Wilms tumor – treatment

Medication

For stages I and II:

Vincristine and Actinomycin D every 3 weeks for 6 months For stages III and IV: Vincristine, Actinomycin D, and Doxorubicin for 6–15 months Add cyclophosphamide and/or Etoposide for higher-stage anaplastic tumors (stage IV focal or II–IV diffuse). NephrectomyRadiotherapy

Neuroblastoma vs wilms tumor

Question 1

A 2-year-old girl is brought to the office by her parents after blood was noticed in her urine. The parents say the patient has had intermittent abdominal pain during the past two months but has been otherwise well. On physical examination, the abdomen is slightly distended and a mass is palpated in the right upper quadrant. Results of urinalysis are positive for blood and protein. Which of the following is the most likely diagnosis?

Cystic nephroma

Cystitis

Mesoblastic nephromaNeuroblastomaWilms tumor

e) Wilms tumor

Question 2

A 3-year-old boy is found to have an abnormal red reflex in his left eye on routine examination. Funduscopic examination shows a proliferative retinal mass. After surgical removal of the specimen, pathologic examination reveals small, round cells with hyperchromatic nuclei, some rosette arrangement and isolated regions of necrosis. There is no involvement of the optic nerve or tumor extension into adjacent brain tissue. The patient undergoes eye enucleation without surgical complications. 

As the child ages, which of the following disorders is the patient also at risk for developing?

Acoustic neuroma.

Colon cancer.Neurofibroma.Osteosarcoma.Wilms tumor.

d) Osteosarcoma