WBR0278
| Author | [[PageAuthor::Ogheneochuko Ajari, MB.BS, MS [1] (Reviewed by Alison Leibowitz)]] |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Genetics, MainCategory::Pathology |
| Sub Category | SubCategory::Oncology, SubCategory::Renal |
| Prompt | [[Prompt::A 2-year-old male is brought to the ER by his mother for bloody urine and abdominal pain. Upon physical examination, you observe a large palpable abdominal mass on the right flank. An abdominal X-ray reveals a large soft tissue opacity displacing the bowel. CT scan displays heterogeneous soft tissue masses with frequent areas of calcifications and fatty regions. On MRI, the tumor appears heterogeneous on all sequences. Which one of the following is associated with the patient’s symptoms?]] |
| Answer A | AnswerA::Deletion of WT1 genes on chromosome 11p11 |
| Answer A Explanation | AnswerAExp::See explanation |
| Answer B | AnswerB::Deletion of H19 on chromosome 11p15.5 |
| Answer B Explanation | [[AnswerBExp::Deletion of H19 on chromosome 11p15.5 is associated with Beckwith-Wiedemann syndrome.]] |
| Answer C | AnswerC::Deletion of the short arm of chromosome 1p36 |
| Answer C Explanation | [[AnswerCExp::Deletion of the short arm of chromosome 1p36 is associated with neuroblastoma.]] |
| Answer D | AnswerD::Deletion of the long arm of chromosome 7 |
| Answer D Explanation | [[AnswerDExp::Deletion of the long arm of chromosome 7 is associated with Williams syndrome.]] |
| Answer E | AnswerE::t(2;13) translocation |
| Answer E Explanation | [[AnswerEExp::A t(2;13) translocation is associated with rhabdomyosarcoma.]] |
| Right Answer | RightAnswer::A |
| Explanation | [[Explanation::The patient in this scenario has nephroblastoma (Wilms tumor). Nephroblastoma often manifests as a huge palpable flank mass and/or hematuria. Nephroblastoma is the most common renal malignancy that occurs in early childhood (ages 2-4 years). It is associated with the deletion of WT1 gene on chromosome 11 (11p). Nephroblastoma may be part of the WAGR complex: Wilms’ tumor, Aniridia, Genitourinary malformation, and mental-motor Retardation. Educational Objective: Nephroblastoma (Wilms tumor) is associated with the deletion of WT1 genes on chromosome 11p11. |
| Approved | Approved::Yes |
| Keyword | WBRKeyword::Cancer, WBRKeyword::Tumor, WBRKeyword::Wilm's tumor, WBRKeyword::Childhood cancer, WBRKeyword::Pediatric cancer, WBRKeyword::Nephroblastoma |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |