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A Novel Case of Mammary-Type Myofibroblastoma With Sarcomatous Features.

Alexander M StraitKonstantinos LinosLaura J TafeKristen E Muller
Published in: International journal of surgical pathology (2020)
Mammary-type myofibroblastoma (MFB) is a benign spindle cell tumor of the breast and soft tissue characterized by 13q14 alterations leading to loss of Rb-1 protein expression, a feature shared among spindle cell lipoma and cellular angiofibroma. In this article, we present a novel case of MFB arising in the left breast of a 70-year old man that microscopically showed an abrupt transition from classic MFB morphology to an area with cytologic atypia and mitotic activity, akin to sarcomatous transformation described in cellular angiofibromas. A thorough workup of the molecular underpinnings of both components using chromosomal microarray and next-generation sequencing platforms supported a clonal relationship. Nearly identical copy number changes, including a single copy loss of 13q14, were found in both components; in addition, the sarcomatous component harbored biallelic TP53 alterations. It is important for pathologists to recognize that sarcomatous features can occur in mammary-type MFB to arrive at the correct diagnosis.
Keyphrases
  • copy number
  • mitochondrial dna
  • single cell
  • genome wide
  • soft tissue
  • cell therapy
  • machine learning
  • dna methylation
  • cell cycle
  • intellectual disability
  • cell free