Neoplasia: neurofibromatosis type 2: practice question

A Pathology question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pathology · Neoplasia: neurofibromatosis type 2

Sample item

A 22-year-old man has progressive bilateral hearing loss and tinnitus. MRI shows bilateral cerebellopontine angle masses, and his mother had a similar problem. Which gene and product are most likely affected?

ANF1 on chromosome 17, producing neurofibrominBVHL on chromosome 3, producing pVHLCNF2 on chromosome 22, producing merlinDTSC2 on chromosome 16, producing tuberin

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

C. NF2 on chromosome 22, producing merlin

Bilateral vestibular schwannomas define neurofibromatosis type 2, caused by loss of the NF2 tumour suppressor on chromosome 22q, whose product merlin links cell contact to growth control. Patients also develop meningiomas and ependymomas. NF1 causes neurofibromas, café-au-lait macules and optic glioma instead.

Option by option

A. NF1 on chromosome 17, producing neurofibromin
Neurofibromin is a RAS-GTPase activating protein, and its loss produces neurofibromas and café-au-lait spots, not bilateral acoustic tumours.
B. VHL on chromosome 3, producing pVHL
VHL disease gives haemangioblastomas, renal cell carcinoma and phaeochromocytoma.
C. NF2 on chromosome 22, producing merlin (correct)
Merlin loss leads to bilateral eighth nerve schwannomas and related tumours.
D. TSC2 on chromosome 16, producing tuberin
Tuberin loss causes tuberous sclerosis with cortical tubers, angiomyolipomas and subependymal nodules.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is C, NF2 on chromosome 22, producing merlin. Bilateral vestibular schwannomas define neurofibromatosis type 2, caused by loss of the NF2 tumour suppressor on chromosome 22q, whose product merlin links cell contact to growth control.

Why is "NF1 on chromosome 17, producing neurofibromin" not the answer?

Neurofibromin is a RAS-GTPase activating protein, and its loss produces neurofibromas and café-au-lait spots, not bilateral acoustic tumours.

Why is "VHL on chromosome 3, producing pVHL" not the answer?

VHL disease gives haemangioblastomas, renal cell carcinoma and phaeochromocytoma.

Why is "TSC2 on chromosome 16, producing tuberin" not the answer?

Tuberin loss causes tuberous sclerosis with cortical tubers, angiomyolipomas and subependymal nodules.

What concept does this question test?

It tests Neoplasia: neurofibromatosis type 2 in Pathology. Patients also develop meningiomas and ependymomas. NF1 causes neurofibromas, café-au-lait macules and optic glioma instead.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Neoplasia: neurofibromatosis type 2?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.