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Cytological and molecular characterization of secretory breast carcinoma
Secretory breast carcinoma is a rare neoplasm, histologically well‐characterized, and secondary to ETV6‐NTRK3 gene fusion, whose cytological features are scarcely described in the literature. We report the case of a woman with a history of secretory breast carcinoma 8 years before, who presented a p...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303577/ https://www.ncbi.nlm.nih.gov/pubmed/35156343 http://dx.doi.org/10.1002/dc.24945 |
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author | Carretero‐Barrio, Irene Santón, Almudena Caniego Casas, Tamara López Miranda, Elena Reguero‐Callejas, Maria Eugenia Pérez‐Mies, Belén Benito, Amparo Palacios, José |
author_facet | Carretero‐Barrio, Irene Santón, Almudena Caniego Casas, Tamara López Miranda, Elena Reguero‐Callejas, Maria Eugenia Pérez‐Mies, Belén Benito, Amparo Palacios, José |
author_sort | Carretero‐Barrio, Irene |
collection | PubMed |
description | Secretory breast carcinoma is a rare neoplasm, histologically well‐characterized, and secondary to ETV6‐NTRK3 gene fusion, whose cytological features are scarcely described in the literature. We report the case of a woman with a history of secretory breast carcinoma 8 years before, who presented a periareolar nodule. A recurrence was diagnosed by fine‐needle aspiration based on the cytomorphological features and pan‐TRK immunocytochemistry on the cell block, and the patient underwent a mastectomy. The histology and molecular studies performed on the surgical specimen (immunohistochemistry, FISH and NGS) confirmed the diagnosis. Cytological smears showed abundant epithelial cellularity, in groups and single cells. These cells showed moderate atypia, with abundant cytoplasm. We observed intracytoplasmic inclusions and extracellular metachromatic globules. Immunocytochemical and immunohistochemical studies showed a triple negative breast tumour. NTRK overexpression was demonstrated with immunocytochemistry against pan‐TRK on the cell block, as well as with immunohistochemistry in the surgical specimen. NTRK3 rearrangement was proved by FISH. In the primary tumour and in the recurrence, we demonstrated ETV6‐NTRK3 fusion by NGS. After conducting a literature review, we have found 26 articles describing the cytological features of secretory breast carcinoma in 33 patients. The smears were described as groups of epithelial cells with vacuolated cytoplasm, single signet ring cells and a globular extracellular secretion. In only two cases molecular confirmation of the diagnosis with ETV6‐NTRK3 fusion was proven, although not in the cytological specimen, but in the subsequent biopsy. The distinct cytological features of secretory breast carcinoma can help in its diagnosis, thus guiding the molecular studies. This is the first reported case that proves TRK overexpression, as a fusion surrogate, in the cytological sample. |
format | Online Article Text |
id | pubmed-9303577 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93035772022-07-28 Cytological and molecular characterization of secretory breast carcinoma Carretero‐Barrio, Irene Santón, Almudena Caniego Casas, Tamara López Miranda, Elena Reguero‐Callejas, Maria Eugenia Pérez‐Mies, Belén Benito, Amparo Palacios, José Diagn Cytopathol Brief Reports Secretory breast carcinoma is a rare neoplasm, histologically well‐characterized, and secondary to ETV6‐NTRK3 gene fusion, whose cytological features are scarcely described in the literature. We report the case of a woman with a history of secretory breast carcinoma 8 years before, who presented a periareolar nodule. A recurrence was diagnosed by fine‐needle aspiration based on the cytomorphological features and pan‐TRK immunocytochemistry on the cell block, and the patient underwent a mastectomy. The histology and molecular studies performed on the surgical specimen (immunohistochemistry, FISH and NGS) confirmed the diagnosis. Cytological smears showed abundant epithelial cellularity, in groups and single cells. These cells showed moderate atypia, with abundant cytoplasm. We observed intracytoplasmic inclusions and extracellular metachromatic globules. Immunocytochemical and immunohistochemical studies showed a triple negative breast tumour. NTRK overexpression was demonstrated with immunocytochemistry against pan‐TRK on the cell block, as well as with immunohistochemistry in the surgical specimen. NTRK3 rearrangement was proved by FISH. In the primary tumour and in the recurrence, we demonstrated ETV6‐NTRK3 fusion by NGS. After conducting a literature review, we have found 26 articles describing the cytological features of secretory breast carcinoma in 33 patients. The smears were described as groups of epithelial cells with vacuolated cytoplasm, single signet ring cells and a globular extracellular secretion. In only two cases molecular confirmation of the diagnosis with ETV6‐NTRK3 fusion was proven, although not in the cytological specimen, but in the subsequent biopsy. The distinct cytological features of secretory breast carcinoma can help in its diagnosis, thus guiding the molecular studies. This is the first reported case that proves TRK overexpression, as a fusion surrogate, in the cytological sample. John Wiley & Sons, Inc. 2022-02-14 2022-07 /pmc/articles/PMC9303577/ /pubmed/35156343 http://dx.doi.org/10.1002/dc.24945 Text en © 2022 The Authors. Diagnostic Cytopathology published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Brief Reports Carretero‐Barrio, Irene Santón, Almudena Caniego Casas, Tamara López Miranda, Elena Reguero‐Callejas, Maria Eugenia Pérez‐Mies, Belén Benito, Amparo Palacios, José Cytological and molecular characterization of secretory breast carcinoma |
title | Cytological and molecular characterization of secretory breast carcinoma |
title_full | Cytological and molecular characterization of secretory breast carcinoma |
title_fullStr | Cytological and molecular characterization of secretory breast carcinoma |
title_full_unstemmed | Cytological and molecular characterization of secretory breast carcinoma |
title_short | Cytological and molecular characterization of secretory breast carcinoma |
title_sort | cytological and molecular characterization of secretory breast carcinoma |
topic | Brief Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303577/ https://www.ncbi.nlm.nih.gov/pubmed/35156343 http://dx.doi.org/10.1002/dc.24945 |
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