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

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...

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Bibliographic Details
Published in:Histopathology 2024-01, Vol.84 (2), p.409-411
Main Authors: Schwartz, Christopher J, Krings, Gregor, Chen, Yunn-Yi
Format: Article
Language:English
Subjects:
Breast Neoplasms - diagnosis
Breast Neoplasms - genetics
Cell differentiation
DNA
DNA sequencing
Female
Humans
Lymph nodes
Lymphatic Metastasis - diagnosis
Lymphatic Metastasis - genetics
Metastases
Mutation
Mutation hot spots
Phyllodes Tumor - diagnosis
Phyllodes Tumor - genetics
Phyllodes Tumor - pathology
Sequence Analysis, DNA
Citations: Items that this one cites
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Summary: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.
ISSN:0309-0167
1365-2559
DOI:10.1111/his.15046