Malignant phyllodes tumour with lymph node metastasis: a diagnostic conundrum resolved by next generation DNA sequencing

Christopher J Schwartz; Gregor Krings; Yunn-Yi Chen

doi:10.1111/his.15046

Malignant phyllodes tumour with lymph node metastasis: a diagnostic conundrum resolved by next generation DNA sequencing

Histopathology. 2024 Jan;84(2):409-411. doi: 10.1111/his.15046. Epub 2023 Sep 14.

Authors

Christopher J Schwartz¹, Gregor Krings¹, Yunn-Yi Chen¹

Affiliation

¹ Department of Pathology, University of California San Francisco (UCSF), San Francisco, CA, USA.

PMID: 37706238
DOI: 10.1111/his.15046

Abstract

A malignant neoplasm with spindle cell and chondroid differentiation in the breast, metastatic to lymph node. In this context, a metaplastic carcinoma is typically favored given the exceptional nature of lymph node metastases in malignant phyllodes tumors (MPT). However, we demonstrate pathognomonic hotspot mutations in MED12 and the promoter of the TERT gene by targeted next-generation DNA sequencing, supporting a diagnosis of MPT.

Keywords: MED12; TERT; DNA sequencing; metaplastic carcinoma; metastasis; phyllodes tumour.

Publication types

Letter

MeSH terms

Breast Neoplasms* / diagnosis
Breast Neoplasms* / genetics
DNA
Female
Humans
Lymphatic Metastasis / diagnosis
Lymphatic Metastasis / genetics
Mutation
Phyllodes Tumor* / diagnosis
Phyllodes Tumor* / genetics
Phyllodes Tumor* / pathology
Sequence Analysis, DNA

Substances

DNA