Primary mammary small-cell carcinoma: A molecular analysis of 2 cases

Mai P. Hoang, Anirban Maitra, Adi F. Gazdar, Jorge Albores-Saavedra

Research output: Contribution to journalArticlepeer-review

47 Scopus citations


Primary small-cell carcinoma of the breast is an exceedingly rare variant of breast carcinoma whose genetic profile has not been previously investigated. We report the molecular features of 2 cases of small-cell carcinoma of the breast: 1 with an adjacent intraductal carcinoma, and 1 with prior pleomorphic lobular carcinoma in situ. Laser capture microdissection followed by loss of heterozygosity (LOH) analysis revealed identical molecular alterations at multiple chromosomal regions, including BRCA-1, BRCA-2, p53, and retinoblastoma gene loci, in 1 case of small-cell carcinoma and its adjacent intraductal component. Additionally, LOH in 1 or both small-cell carcinomas was detected at 3p, 4q31.2-qter, 8p21-24, 11q13 (MEN-1 locus), 11q23.3, 11q24.1-25, 16q24.1 (H-cadherin locus), and 17q25. The results of our molecular analysis suggest that genetic changes in mammary small-cell carcinoma resembled those seen in both invasive ductal carcinomas and pulmonary small-cell carcinoma. Second, mammary small-cell carcinoma is clonally related to ductal carcinoma in situ and might represent an example of divergent differentiation occuring in a multipotential neoplastic stem cell.

Original languageEnglish (US)
Pages (from-to)753-757
Number of pages5
JournalHuman Pathology
Issue number7
StatePublished - 2001
Externally publishedYes


  • Breast carcinoma
  • Loss of heterozygosity
  • Small-cell carcinoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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