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-Wiedemann 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. Educational Objective: References: ]]
Approved	Approved::Yes
Keyword
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::