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Establishment of a Clinic-based Biorepository
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Apocrine-eccrine carcinomas: molecular and immunohistochemical analyses
Long P Le1, Dora Dias-Santagata, Amanda C Pawlak
1Department of Pathology, Massachusetts General Hospital, Boston, United States of America.
Plos One
|October 12, 2012
Summary
Apocrine-eccrine carcinomas show high expression of EGFR and frequent mutations in PIK3CA and TP53. These findings suggest potential targeted therapies for these rare cancers.
Area of Science:
- Oncology
- Molecular Pathology
- Dermatopathology
Background:
- Apocrine-eccrine carcinomas are rare malignancies with poor prognosis and no standard treatment guidelines.
- Limited data exists on the genetic alterations and targeted therapy pathways in these cancers.
Purpose of the Study:
- To investigate hormonal receptor expression, EGFR/HER2 status, and oncogenic pathway activation in apocrine-eccrine carcinomas.
- To identify potential therapeutic targets for these rare tumors.
Main Methods:
- Immunohistochemistry for AR, PR, ER, EGFR, and HER2.
- Fluorescence in situ hybridization (FISH) for EGFR and ERBB2 gene amplification.
- Molecular analysis of 15 cancer genes (AKT-1, EGFR, PIK3CA, TP53).
Main Results:
- EGFR expression was high (85%), with polysomy/trisomy in 30%.
- Hormonal receptor expression varied: AR (36%), ER (27%), PR (16%).
- Mutations in PIK3CA (3/47) and TP53 (7/47) were observed, alongside AKT-1 mutations (1/47).
Conclusions:
- EGFR alterations and PI3K/Akt/mTOR pathway mutations are present in apocrine-eccrine carcinomas.
- Targeted therapies, particularly PI3K/Akt/mTOR pathway inhibitors, warrant further investigation for clinical application.
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