WBR0278: Difference between revisions

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{{WBRQuestion
{{WBRQuestion
|QuestionAuthor={{Ochuko}}
|QuestionAuthor={{Ochuko}} {{Alison}}
|ExamType=USMLE Step 1
|ExamType=USMLE Step 1
|MainCategory=Genetics, Pathology
|MainCategory=Genetics, Pathology
Line 20: Line 20:
|MainCategory=Genetics, Pathology
|MainCategory=Genetics, Pathology
|SubCategory=Oncology, Renal
|SubCategory=Oncology, Renal
|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?
|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?
|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.
|Explanation=The patient in this scenario 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
|EducationalObjectives= [[Wilms’ tumor]] ([[nephroblastoma]]) is associated with the deletion of WT1 genes on chromosome 11p 11.
 
Wilms’ tumor (Nephroblastoma) is associated with the deletion of WT1 genes on chromosome 11p 11.
|AnswerA=Deletion of WT1 genes on chromosome 11p 11
|AnswerA=Deletion of WT1 genes on chromosome 11p 11
|AnswerAExp=Correct. See explanation
|AnswerAExp= See explanation
|AnswerB=Deletion of H19 on chromosome 11p 15.5
|AnswerB=Deletion of H19 on chromosome 11p 15.5
|AnswerBExp=Incorrect. Deletion of H19 on chromosome 11p 15.5 is associated with [[Beckwith-Wiedemann syndrome]]
|AnswerBExp= Deletion of H19 on chromosome 11p 15.5 is associated with [[Beckwith-Wiedemann syndrome]].
|AnswerC=Deletion of the short arm of chromosome 1p 36
|AnswerC=Deletion of the short arm of chromosome 1p 36
|AnswerCExp=Incorrect. Deletion of the short arm of chromosome 1p 36 is associated with [[neuroblastoma]]
|AnswerCExp= Deletion of the short arm of chromosome 1p 36 is associated with [[neuroblastoma]].
|AnswerD=Deletion of the long arm of chromosome 7
|AnswerD=Deletion of the long arm of chromosome 7
|AnswerDExp=Incorrect. Deletion of the long arm of chromosome 7 is associated with [[Williams syndrome]]
|AnswerDExp= Deletion of the long arm of chromosome 7 is associated with [[Williams syndrome]].
|AnswerE=T (2:13) translocation
|AnswerE=T (2:13) translocation
|AnswerEExp=Incorrect. T (2:13) translocation is associated with [[rhabdomyosarcoma]]
|AnswerEExp= T (2:13) translocation is associated with [[rhabdomyosarcoma]].
|RightAnswer=A
|RightAnswer=A
|Approved=Yes
|Approved=Yes
}}
}}

Revision as of 19:03, 8 July 2014
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 11p 11
Answer A Explanation AnswerAExp::See explanation
Answer B AnswerB::Deletion of H19 on chromosome 11p 15.5
Answer B Explanation [[AnswerBExp::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::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::Deletion of the long arm of chromosome 7 is associated with Williams syndrome.]]
Answer E AnswerE::T (2:13) translocation
Answer E Explanation [[AnswerEExp::T (2:13) translocation is associated with rhabdomyosarcoma.]]
Right Answer RightAnswer::A
Explanation [[Explanation::The patient in this scenario 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.
References: ]]

Approved Approved::Yes
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