1 / 29

Case Presentation

Case Presentation. 9 mo M presents to clinic with a chief compliant of vomiting. Case Presentation. Mother reports the child has had a long history of constipation and she gives him extra water and a high fiber diet to no avail He has been fussy for the last three days

ermin
Download Presentation

Case Presentation

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Case Presentation 9 mo M presents to clinic with a chief compliant of vomiting

  2. Case Presentation • Mother reports the child has had a long history of constipation and she gives him extra water and a high fiber diet to no avail • He has been fussy for the last three days • Yesterday he began vomiting nonbilious nonbloody emesis x 2 • His last BM was two days ago • He is otherwise well

  3. Case Presentation • PMH: FT, uncomplicated pregnancy and delivery • Mother is 20yo G2P2 • Medication: polyethylene glycol (for constipation) • FH: 4yo sister is healthy

  4. Case Presentation • O/E: • VS T 36.8 HR 110 RR 38 BP 111/65 Wt: 9.3 kg • Gen: well-appearing and playful, well hydrated • Skin: no rash, no lesions • HEENT: Normocephalic; EOMI, PERRL, sclera nonicteric, TMs pearly and translucent; oropharynx benign

  5. Case Presentation • Nodes: no cervical, axillary, inguinal adenopathy • CV: RRR, nl S1/S2, no m/r/g • Lungs: clear breath sounds bilaterally • Abdomen: soft, tenderness diffusely along left side, no rebound, no guarding, palpable mass in LLQ, normal bowel sounds • Extr: warm and well perfused

  6. Case Presentation • Differential Dx: • Constipation • Wilm’s tumor • Neuroblastoma • Splenomegaly • Multicystic kidney disease • Renal tumor • Clear cell sarcoma • Rhabdoid tumor • Mesoblastic nephroma • Renal cell carcinoma • Renal medullary cancer

  7. Case Presentation Studies: • KUB: bowel gas is distributed primarily along the right side of the abdomen; no obstruction; minimal stool seen in the colon • US: large mass eminating from the left kidney, fully encapsulated

  8. Case Presentation

  9. Case Presentation • Diagnosis: Wilm’s Tumor

  10. Wilm’s Tumor and Neuroblastoma Venée Tubman, MD Children’s Hospital Boston HEARTT

  11. Wilm’s Tumor (WT) • Wilm’s tumor is the most common renal malignancy in pediatrics • Amongst Americans, more common in African Americans • Slightly more common in females, bilateral disease more common in females

  12. WT: Associated Syndromes • Syndrome are associated with mutations or deletions in WT1/FWT1/FWT2/p53 genes • Beckwith-Wiedeman syndrome: macrosomia, macroglossia, omphalocele, large kidneys, hemihypertrophy • 5-10% of children will develop WT • WAGR: WT, aniridia, GU anomalies, mental retardation • Denys-Drash: male pseudohermaphrodite and renal disease

  13. WT: Pathology • Approximately 7% of cases have bilateral disease • Most tumors are enclosed by renal capsule or intrarenal pseudocapsule • Tumor can contain a mixture of cells: • blastemal cells • stromal cells • epithelial cells • High degree of anaplasia associated with poor outcomes

  14. WT: CLINICAL PRESENTATION • Many cases present with an abdominal mass discovered by the parents during bath or changing time • Associated findings: abdominal pain (30%), hematuria (12-25%), hypertension (25%) • Firm, nontender mass which does not cross the midline • Examine carefully given risk of capsular rupture • Examine for associated anomlaies

  15. WT: EVALUATION • KUB/US • If available, CT (chest/abdomen) • Labs: chemistries, LFTs, urinalysis

  16. WT: STAGING National Wilm’s Tumor Study (US): staging is determined before chemotherapy is initiated

  17. WT: STAGING International Society of Pediatric Oncologists (SIOP) (Europe): staging is determined after chemotherapy is initiated for 4-6 weeks • Stage 1: fully resected and encapsulated • Stage 2: beyond renal capsule but fully resected • Stage 3: extends into abdomen • Stage 4: hematogenous spread • Stage 5: bilateral renal disease

  18. WT: TREATMENT • Resection is the mainstay of treatment, but without chemotherapy there is a high rate of recurrence • Stage 1 or 2: 18 weeks of vincristine and dactinomycin • Stage 3: 24 weeks of vincristine, doxorubicin, and dactinomycin; and radiation to the flank • Stage 4: 24 weeks of chemotherapy with radiation to flank and lungs

  19. WT: OUTCOMES • Response rate of 90% with chemotherapy and resection • Best prognosis is under 2 years and stage 1 disease • 15% recurrence rate if histology is favorable; 50% recurrence if anaplasia is present • Complications are largely related to chemotherapy

  20. NEUROBLASTOMA

  21. NEUROBLASTOMA (NB) • Represents a variety of tumors including neuroblastoma, ganglioneuroma, ganglioneuroblastoma • Tumors arise from primitive sympathetic ganglion cells • Characterized by variable location, histology and behavior • Most common extracranial solid tumor in children,accounting for 8% to 10% of all childhood cancers • Prevalence is about 1 case per 7,000 live births

  22. NB: PATHOLOGY • Small blue round cell tumor • MYCN oncogene is activated in neoplastic cell lines • Associated with advanced disease and poor outcome

  23. NB: CLINICAL • Can occur anywhere along the sympathetic nervous system: adrenal (40%), abdomen (25%), thoracic (15%), cervical (5%) • Majority of tumors are diagnosed prior to age 5 • Hepatomegaly • Single, large left supraclavicular LN is highly suggestive • Presentation depends on location of tumor: • Fixed, firm abdominal mass: LE edema, abdominal pain, obstruction • Thoracic: incidental, Horner’s syndrome • Paravertebral: oncologic emergency

  24. NB: CLINICAL • Cathecolamine secretion causes hypertenison • Opsoclonus-myoclonus: dancing eyes, jerking movements, ataxia • Metastasizes to lymph nodes, bone marrow, bone, dura, orbits, liver, skin

  25. NB: Diagnosis • An unequivocal pathologic diagnosis is made from: • tumor tissue • increased urine (or serum) catecholamines or metabolites • bone marrow aspirate contains unequivocal tumor cells AND increased urine or serum catecholamines

  26. NB: EVALUATION • Excess cathecolamines cause urinary secretion of homovanillic acid (HVA), vanillylmandelic acid (VMA) and dopamine • CT scan brain, chest, abdomen • Bone marrow aspirate

  27. NB: STAGING International Neuroblastoma Staging System • Stage 1: Localized tumor • Stage 2A: Unilateral tumor with incomplete resection; identifiable lymph node negative for tumor. • Stage 2B: Unilateral tumor with complete or incomplete resection; with ipsilateral lymph node positive for tumor; identifiable contralateral lymph node negative for tumor. • Stage 3: Tumor infiltrating across midline involvement; or unilateral tumor with contralateral lymph node involvement; or midline tumor with bilateral lymph node involvement. • Stage 4: Dissemination of tumor to distant lymph nodes, bone marrow, bone, liver, or other organs except as defined by Stage 4S. • Stage 4S: Age <1 year old with localized primary tumor as defined in Stage 1 or 2, with dissemination limited to liver, skin, or bone marrow (less than 10 percent of nucleated bone marrow cells are tumors).

  28. NB: Treatment • Surgery, chemotherapy, radiation • Low risk disease may warrant surgery alone • Multiple chemotherapy regimens can be used for intermediate arisk • Radiation, chemotherapy, bone marrow transplant regimens have 15% survival for high risk disease

  29. NB: Outcomes • Prognosis depends on age, stage, histology, DNA content, presence of MYCN mutation • Good outcomes are suggested by: • Age less than 18 months without MYCN amplification • Stage 4S

More Related