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Pathology · Breast pathology
Sample itemA woman has an ill-defined breast mass. Histology shows small discohesive cells infiltrating the stroma in single files, with some signet ring cells. Which molecular abnormality is characteristic of this tumour?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Loss of E-cadherin expression
This is invasive lobular carcinoma, in which loss of E-cadherin (CDH1) causes the cells to lose cohesion and infiltrate in single files. Most of these tumours are strongly oestrogen receptor positive and are often multicentric or bilateral.
Option by option
A. HER2 gene amplification as the defining lesion
HER2 amplification is uncommon in invasive lobular carcinoma and does not define it.
B. Germline BRCA1 mutation as the defining lesion
BRCA1 mutations are linked mainly to high-grade, triple-negative ductal-type cancers rather than lobular carcinoma.
C. Loss of E-cadherin expression (correct)
Correct. E-cadherin loss explains the discohesive, single-file growth pattern.
D. Absence of oestrogen receptor expression
Invasive lobular carcinoma is usually oestrogen receptor positive, so absence of the receptor is not characteristic.
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.
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