WBR0249
| Author | [[PageAuthor::Rim Halaby, M.D. [1], Alison Leibowitz [2] (Reviewed by Alison Leibowitz)]] |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Genetics |
| Sub Category | SubCategory::Neurology |
| Prompt | [[Prompt::A mother brings her 2-year-old male child to the physician's office, after noticing that, over the past few months, he has been developing abnormally. The mother reports that the child is frequently irritable, cries more than usual, and his growth has slowed. Upon physical exam, you notice that the infant's weight falls lower than the 3rd percentile on the standard growth chart and is experiencing abdominal distention. Urine testing displays elevated levels of vanillymandelic acid (VMA) and homovanillic acid (HVA). You suspect the presence of an extracranial neurological malignancy, which frequently occurs in the adrenal glands. Mutation in which of the following genes is most likely associated with the patient's condition?]] |
| Answer A | AnswerA::N-myc |
| Answer A Explanation | [[AnswerAExp::The N-myc oncogene is associated with Neuroblastoma.]] |
| Answer B | AnswerB::Ret |
| Answer B Explanation | [[AnswerBExp::The Ret oncogene is associated with MEN syndrome, type IIa and IIb.]] |
| Answer C | AnswerC::Abl |
| Answer C Explanation | [[AnswerCExp::The Abl oncogene is associated with CML.]] |
| Answer D | AnswerD::L-myc |
| Answer D Explanation | [[AnswerDExp::The L-myc oncogene is associated with lung cancer.]] |
| Answer E | AnswerE::C-myc |
| Answer E Explanation | [[AnswerEExp::The C-myc is associated with Burkitt's lymphoma.]] |
| Right Answer | RightAnswer::A |
| Explanation | [[Explanation::The patient's symptoms of failure to thrive, irritability, and abdominal distention in conjunction with the elevated levels of urine VMA and HVA in the urine, points towards the diagnosis of neuroblastoma, associated with a mutation in the N-myc oncogene. Educational Objective: The patient's symptoms of failure to thrive, irritability, and abdominal distention in conjunction with the elevated levels of urine VMA and HVA in the urine, points towards the diagnosis of neuroblastoma, associated with a mutation in the N-myc oncogene. |
| Approved | Approved::Yes |
| Keyword | |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |