Metaplastic Breast Cancer: Molecular Typing and Identification of Potential Targeted Therapies at a Single Institution

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• 作者：Jessica Edenfield¹ ; Christine Schammel² ; ^{schammelph.d@ghs.org} ; Justin Collins³ ; David Schammel² ; W. Jeff Edenfield⁴
• 关键词：Distant metastases ; Genetic profiling ; Novel therapy for poor prognosis ; Rare breast cancer ; Second primaries
• 刊名：Clinical Breast Cancer
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：17
• 期：1
• 页码：e1-e10
• 全文大小：1274 K
• 卷排序：17

文摘

Metaplastic breast carcinoma (MBC) is a rare and aggressive histologic subtype of breast cancer comprising approximately 0.5% to 5.0% of all invasive breast cancers with a poor prognosis and limited therapeutic options.Patients and MethodsWe investigated MBC at our institution to evaluate outcomes and investigate the molecular profile of our cohort to determine the presence of mutations for which there are targeted therapies.ResultsWe found our cohort to consist mainly of the matrix-producing variant (72%) with 48% having the stereotypical estrogen receptor-negative/progesterone receptor-negative/human epidermal growth factor receptor-2-negative phenotype. While the overall survival of our cohort was an average of 1679 days (4.6 years), we had a surprising number of patients with second primaries (40%) and distant metastases (40%), yet few recurrences (12%). Molecular analysis of the tumors indicated that one gene mutation, CSFIR, was significantly associated with outcome (P = .021); however, the cohort was defined by frequent mutations in ERBB4 (36%), PIK3CA (48%), and FLT3 (60%), for which there are now targeted therapies.ConclusionWhile surgery is the appropriate first step in the management of this aggressive malignancy, the collection of data pertaining to the use of targeted agents, although anecdotal, may provide clues to better treatment for these patients.