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Pediatric Oncology Essentials

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Juvenile Myelomonocytic Leukemia (JMML)

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Presentation: Failure to thrive, fever, skin rash. Diagnosis: Complete blood count with differential, bone marrow biopsy, genetic testing for RAS pathway mutations. Treatment Strategies: Stem cell transplant, targeted therapy, clinical trials.

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Pleuropulmonary Blastoma

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Presentation: Respiratory distress, chest pain, cough. Diagnosis: Chest imaging (CT, X-ray), biopsy, DICER1 mutation analysis. Treatment Strategies: Surgery, chemotherapy, radiation therapy.

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Desmoplastic Small Round Cell Tumor

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Presentation: Abdominal distension, ascites, abdominal pain. Diagnosis: Imaging (CT, MRI), biopsy, EWS-WT1 fusion gene. Treatment Strategies: Debulking surgery, chemotherapy, radiation therapy.

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Hodgkin Lymphoma

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Presentation: Painless lymphadenopathy, fever, night sweats. Diagnosis: Biopsy of lymph nodes, Reed-Sternberg cells. Treatment Strategies: Chemotherapy, radiation therapy, immunotherapies.

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Hepatoblastoma

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Presentation: Abdominal mass, jaundice, anorexia. Diagnosis: Imaging (ultrasound, CT), alpha-fetoprotein levels, biopsy. Treatment Strategies: Surgery, chemotherapy, liver transplantation.

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Neurofibromatosis (NF1)

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Presentation: Café-au-lait spots, neurofibromas, Lisch nodules. Diagnosis: Clinical criteria, genetic testing for NF1 mutations, MRI. Treatment Strategies: Surveillance, surgery for complications, targeted therapy (e.g., MEK inhibitors).

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Neuroblastoma

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Presentation: Abdominal mass, bone pain, opsoclonus-myoclonus syndrome. Diagnosis: Imaging (CT, MRI), urine catecholamines, biopsy. Treatment Strategies: Surgery, chemotherapy, radiation therapy.

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Wilms Tumor (Nephroblastoma)

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Presentation: Abdominal swelling, hematuria, hypertension. Diagnosis: Ultrasound, CT scan, biopsy. Treatment Strategies: Surgery, chemotherapy, potentially radiation.

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Non-Hodgkin Lymphoma (NHL)

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Presentation: Lymphadenopathy, abdominal pain, mediastinal mass. Diagnosis: Lymph node biopsy, imaging, bone marrow examination. Treatment Strategies: Chemotherapy, targeted therapy, stem cell transplant.

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Langerhans Cell Histiocytosis

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Presentation: Bone lesions, skin rash, diabetes insipidus. Diagnosis: Biopsy with immunostaining, imaging, pituitary function tests. Treatment Strategies: Chemotherapy, steroids, targeted therapy.

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Anaplastic Astrocytoma

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Presentation: Headache, seizures, focal neurological deficits. Diagnosis: MRI with contrast, biopsy, IDH1 mutation status. Treatment Strategies: Surgery, radiotherapy, chemotherapy (temozolomide).

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Acute Lymphoblastic Leukemia (ALL)

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Presentation: Unexplained weight loss, fevers, bone pain. Diagnosis: Blood count, bone marrow biopsy. Treatment Strategies: Chemotherapy, radiation therapy, stem cell transplant.

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Retinoblastoma

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Presentation: Leukocoria, vision changes, strabismus. Diagnosis: Ophthalmologic exam, imaging (ultrasound, MRI), genetic testing for RB1 mutation. Treatment Strategies: Enucleation, chemotherapy, laser therapy.

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Osteosarcoma

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Presentation: Bone pain or swelling, pathological fractures. Diagnosis: X-rays, MRI, bone biopsy. Treatment Strategies: Surgery, chemotherapy, limb-sparing procedures.

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Glioblastoma Multiforme (GBM)

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Presentation: Rapid neurological decline, headache, vomiting. Diagnosis: MRI with contrast, biopsy, molecular profiling (IDH, MGMT). Treatment Strategies: Surgery, concurrent radiotherapy and temozolomide, clinical trials.

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Acute Myeloid Leukemia (AML)

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Presentation: Anemia, bleeding, infection risk. Diagnosis: Blood smear, bone marrow biopsy. Treatment Strategies: Chemotherapy, targeted therapy, stem cell transplant.

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Brain Tumors (e.g., Medulloblastoma)

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Presentation: Headache, vomiting, ataxia. Diagnosis: MRI with contrast, lumbar puncture. Treatment Strategies: Surgery, radiotherapy, chemotherapy.

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Ewing Sarcoma

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Presentation: Bone pain, fever, soft tissue mass. Diagnosis: Imaging (X-ray, CT, MRI), biopsy, EWRS1 gene rearrangement. Treatment Strategies: Surgery, chemotherapy, radiation therapy.

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Rhabdomyosarcoma

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Presentation: Painful mass, urinary obstruction, proptosis. Diagnosis: Imaging (CT, MRI), biopsy, histopathology. Treatment Strategies: Surgery, chemotherapy, radiation therapy.

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Germ Cell Tumors

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Presentation: Mass in testes or ovaries, elevated AFP or hCG. Diagnosis: Ultrasound, tumor marker levels, biopsy. Treatment Strategies: Surgery, chemotherapy, surveillance.

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