Pathology · Female Genital and Breast Pathology

A 52-year-old woman undergoes mastectomy for invasive lobular carcinoma. Compared to invasive ductal carcinoma (IDC NST), lobular carcinoma has a distinct growth pattern of single-file infiltrating cells. The molecular basis for this distinctive infiltrative pattern is:

  • A Gain-of-function ERBB2 (HER2) amplification causing increased cell motility
  • B BRCA1 mutation promoting epithelial-mesenchymal transition
  • C Loss of E-cadherin (CDH1) expression due to CDH1 gene mutation or silencing, disrupting cell-cell adhesion
  • D PI3K/AKT pathway activation causing loss of cell polarity
Correct answer: C. Loss of E-cadherin (CDH1) expression due to CDH1 gene mutation or silencing, disrupting cell-cell adhesion

Explanation

The classic Indian-file (single-file, targetoid) infiltrating pattern of invasive lobular carcinoma (ILC) results from loss of E-cadherin, a transmembrane epithelial adhesion molecule encoded by CDH1. E-cadherin loss (via mutation, LOH, or promoter methylation) eliminates cell-cell adhesion, allowing individual tumor cells to infiltrate independently without forming cohesive glands or nests. CDH1 mutations are somatic in most ILC and germline in hereditary diffuse gastric cancer/lobular breast cancer syndrome. IHC for E-cadherin (negative in ILC, positive in IDC) is diagnostically useful.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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