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Hepatoblastoma By: Brittni McClellan.

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Presentation on theme: "Hepatoblastoma By: Brittni McClellan."— Presentation transcript:

1 hepatoblastoma By: Brittni McClellan

2 Hepatoblastoma description
Most common form of liver cancer in children. Tumor Marker: AFP Can also secrete b-hCG Pathophysiology: Originate from Immature Liver Precursor Cells Genetics: Loss of Heterozygosity of the Chromosome Arm 11p. Associated with Beckwith-Wiedemann Syndrome (BWS)

3 Hepatoblastoma – H&P Signs and Symptoms: Asymptomatic Abdominal Mass
Isosexual Precocity: Penile/Testicular Enlargement without Pubic Hair Anorexia Talipes Equinovarus Persistent Ductus Arteriosus Tetralogy of Fallot Extrahepatic Biliary Atresia Renal Anomalies

4 Hepatoblastoma - Diagnosis
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 Evaluation Radionuclide Bone Scanning: Reveals Bone Metastases Diagnosis: CBC: Normochromic Normocytic Anemia Thrombocytosis Other Labs Liver Enzyme Levels Elevated in 15-30% AFP As high as 100, ,000 Biopsy: Open Biopsy or Complete Surgical Resection

5 Hepatoblastoma – treatment
Medication: Cisplatin: Most active single agent Cisplatin/5-FU/Vincristine Combo Radiotherapy Resection/Transplantation

6 Neuroblastoma description
Small Round Blue Cell Tumor Homer Wright Rosettes Bombesin + Description: Most Common Extracranial Solid Tumor of Childhood Most Common Malignancy of Infancy Pathophysiology: Derived from Neural Crest Cells Arises anywhere along the Sympathetic Chain of the Peripheral Nervous System Most Common: Adrenal Medulla Genetics: Due to Inherited Mutations in the ALK Tyrosine Kinase Associated with N-MYC Oncogene Associated with Congenital Central Hypoventilation Syndrome and PHOX2B Mutations.

7 neuroblastoma – H&P History: Associated Conditions Signs and Symptoms:
General Appearance, Activity Level, and Appetite Based on Tumor Location: Thoracic: Chest Pain, Cough, Respiratory Distress Abdominal: Pain, Swelling Bone Marrow: Fatigue (Anemia) Associated Conditions Neurofibromatosis Type I Hirschsprung 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 Distress Horner Syndrome Superior Vena Cava Syndrome Paraspinal Mass: Nerve Root Compression Metastatic Disease Symptoms Bone Metastases (Pain) Bony Orbit

8 neuroblastoma – H&P

9 neuroblastoma - Diagnosis
CBC: Decreased Hemoglobin, Platelets, and/or WBC indicate Bone Marrow Involvement Urine Catecholamine Metabolites are Elevated: Homovanillic Acid (HVA) Vanillylmandelic Acid (VMA) Imaging U/S or CT: Find Primary Tumor Tumor is CALCIFIED MIBG Scan: Taken up by 90% of Neuroblastomas Can detect bone/soft tissue involvement Bone Scan: Find Bone Mets

10 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 GD2 Possibility of Spontaneous Regression

11 retinoblastoma description
Most Common Primary Intraocular Tumor Malignant Tumor of the Embryonic Neural Retina Pathophysiology: Loss of function of both copies of the RB1 gene Located on Chromosome 13 Spreads via the Optic Nerve Vitreous Seeding: Tumor Cells Break Off Two Forms: Hereditary Retinoblastoma 45% of all RB 1 RB Gene is Dysfunctional in all cells Non-Hereditary Retinoblastoma 55% of all RB 2 acquired mutations must occur in a single retinal cell.

12 retinoblastoma – H&P Patient History: Physical Exam:
Family History Leukocoria (White Pupil) Physical Exam: Strabismus Only 3% discovered on routine fundoscopic examination Rare: Pain, Inflammation, Vision Problems Leukocoria/Strabismus Metastatic Symptoms: Check for Red Reflex in Darkened Room Neurological Signs, Orbital Masses, Bone Pain, Anorexia, Cytopenia Screen for RB in Office Associated Conditions: Evaluate Anisocoria 13q Deletion Syndrome Unequal Pupils RB, Dysmorphism, Mental Retardation, GU Anomalies High Risk of Osteosarcoma in the Future

13 retinoblastoma - Diagnosis
Ophthalmologic Examination By a specialist in pediatric ocular tumors Biopsy: Biopsy confirmation is RARE. Risk of seeding CBC: Asses for Bone Marrow involvement CSF Cytology Evaluation of Leptomeningeal Spread Chromosome Analysis Only 5% are detectable, but should be done anyways. Imaging: CT/MRI: Evaluation of Primary Tumor Evaluation of any metastases.

14 retinoblastoma – treatment
Medication Eradicate Tumor/Eye Salvage Therapy Plaque Radiotherapy: Radioactive seeds sewn into episcleral surface about RB lesion. Provides local radiation to the tumor External Beam Radiation Therapy Photocoagulation: Cryotherapy Locally Delivered Chemotherapy Systemic Chemotherapy Tumor Resection with Enucleation

15 Wilms tumor (Nephroblastoma) description
Malignant Tumor of the Kidney Also called Nephroblastoma Pathophysiology: 10-20% Hereditary Associated with WAGR, Beckwith- Wiedemann, and Denys-Drash Syndromes Tumor Suppressor Gene: WT1 on Chromosome 11p13 WT2 on Chromosome 11p15

16 Wilms tumor – H&P Patient History: Physical Exam: Family History
Asymptomatic Abdominal Mass Abdominal Distention/Pain Extends from Flank Towards Midline Hematuria Anemia Fever, Anorexia, Vomiting Fever Rapid Increase in Abdominal Size Hypertension Varicocele Aniridia, Hemihypertrophy, Cryptorchidism, Hypospadias Proteinuria/Hematuria

17 Wilms tumor - Diagnosis
Labs: CBC, Electrolytes, Urine Analysis, Liver and Kidney Function Tests, Coagulation Factors Imaging: U/S: Diagnostic of Renal Mass Evaluations extention into Inferior Vena Cava CT Scan: Evaluate for Metastases Bone Scan: 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 glomeruli The presence of diffuse anaplasia indicates poor prognosis.

18 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). Nephrectomy Radiotherapy

19 Neuroblastoma vs wilms tumor
Neuroblastoma – Opsoclonus-Myoclonus Syndrome (uncontrolled eye movement and involuntary twitching) Wilms: WAGR Syndrome (Wilms tumor (a tumor of the kidneys), Aniridia (absence of the colored part of the eye, the iris), Genitourinary anomalies, and mental Retardation), Beckwith Wiedemann Syndrome (macroglossia, macrosomia, hemihypertrophy).

20 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 nephroma Neuroblastoma Wilms tumor The correct answer is Option (E), Wilms tumor, because the clinical presentation of hematuria, abdominal pain of two months’ duration, and a palpable mass in the right upper quadrant of the abdomen is characteristic of this tumor. Option (A), cystic nephroma, is incorrect because this tumor typically presents as an asymptomatic benign mass in the kidney that is found incidentally. Option (B), cystitis, is incorrect because this condition does not include a retroperitoneal mass. Option (C), mesoblastic nephroma, is incorrect because this condition is exceedingly rare; in more than 90% of cases, it presents before 1 year of age. Option (D), neuroblastoma, is incorrect because although it can present with intra-abdominal mass, proteinuria and hematuria are rarely associated with this condition. In addition, neuroblastomas also present more often in children younger than 1 year of age, making this diagnosis less likely in the patient described. e) Wilms tumor

21 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. This patient presents with a classic presentation of retinoblastoma, a rapidly progressive cancer arising from immature retinal cells. It occurs almost entirely in young children and symptoms include visual impairment and strabismus. However, many cases are discovered incidentally on family photographs or physical exam with an absent red reflex (leukocoria). Leukocoria can also be found in a number of other conditions including congenital cataracts, but should always prompt a work-up for retinoblastoma. Retinoblastoma can either be inherited or sporadic. The disease is associated with a mutation in the Rb tumor suppressor gene located at chromosome 13q14. Rb protein regulates cell-cycle progression from G1 (growth phase) to S (synthesis) during replication. Loss of function causes unregulated cell division. Other diseases caused by germline mutations in the Rb gene include osteosarcoma. So, as part of patient management, the child should be monitored for the risk of osteosarcoma development in future years. Somatic mutations at this site are also seen in some cases of breast, lung, prostate and bladder cancer. d) Osteosarcoma


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