WBR0278
| Author | [[PageAuthor::Ogheneochuko Ajari, MB.BS, MS [1]]] |
|---|---|
| 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 was brought to the emergency department by the mother for complaints of passage of bloody urine and abdominal pain. Past medical history is not significant. Physical examination reveals a huge palpable abdominal mass on the right flank. Abdominal X-ray reveals large soft tissue opacity displacing bowel. CT scan shows heterogeneous soft tissue density masses with frequent areas of calcifications and fat density regions. The tumor on MRI also 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 11p 11 |
| Answer A Explanation | AnswerAExp::Correct. See explanation |
| Answer B | AnswerB::Deletion of H19 on chromosome 11p 15.5 |
| Answer B Explanation | AnswerBExp::Incorrect. Deletion of H19 on chromosome 11p 15.5 is associated with Beckwith-Weidemann syndrome |
| Answer C | AnswerC::Deletion of the short arm of chromosome 1p 36 |
| Answer C Explanation | AnswerCExp::Incorrect. Deletion of the short arm of chromosome 1p 36 is associated with neuroblastoma |
| Answer D | AnswerD::Deletion of the long arm of chromosome 7 |
| Answer D Explanation | AnswerDExp::Incorrect. Deletion of the long arm of chromosome 7 is associated with Williams syndrome |
| Answer E | AnswerE::T (2:13) translocation |
| Answer E Explanation | AnswerEExp::Incorrect. T (2:13) translocation is associated with rhabdomyosarcoma |
| Right Answer | RightAnswer::A |
| Explanation | [[Explanation::The patient in this vignette has Nephroblastoma (Wilms’ tumor). It is the most common childhood renal malignancy of early childhood (ages 2-4 years). It is associated with the deletion of WT1 gene on chromosome 11 (11p). It may be part of the WAGR complex: Wilms’ tumor, Aniridia, Genitourinary malformation and mental-motor Retardation. It presents with huge palpable flank mass and/or hematuria.
Educational objective Wilms’ tumor (Nephroblastoma) is associated with the deletion of WT1 genes on chromosome 11p 11. |
| Approved | Approved::Yes |
| Keyword | |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |