An exceptional metaplastic lobular breast carcinoma diagnosed through exome sequencing.

Fiche publication


Date publication

janvier 2020

Journal

Journal of clinical pathology

Auteurs

Membres identifiés du Cancéropôle Est :
Dr ARNOULD Laurent, Dr BOIDOT Romain, Dr MARTIN Etienne, Dr DESMOULINS Isabelle, Dr CHARON-BARRA Céline


Tous les auteurs :
Bergeron A, Desmoulins I, Beltjens F, Causeret S, Charon-Barra C, Martin E, Richard C, Boidot R, Arnould L

Résumé

Metaplastic breast carcinoma is a rare subtype of breast cancer. This subtype is mostly found in association with poorly differentiated ductal breast carcinomas and rarely with other breast carcinoma types. We report the case of a 69-year-old woman with an exceptional invasive lobular breast carcinoma associated with metaplastic squamous cell bone metastasis occurring 2 years after the initial breast cancer diagnosis. Whole-exome sequencing and subsequent immunohistochemistry of the lesions were used to link the squamous cell bone metastasis of unknown origin to the primary breast carcinoma initially diagnosed. Searching for primary carcinoma when metastatic lesions of unknown origin occur can be complex. Current molecular biology techniques may help pathologists in associating metastasis with the primary carcinoma by identifying shared specific gene mutations, even when different morphological and immunohistochemical profiles are observed between the tumours.

Mots clés

breast cancer, carcinoma, genetics, immunohistochemistry, metastasis

Référence

J. Clin. Pathol.. 2020 Jan 24;: