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A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors
BACKGROUND: Simultaneous or consequent development of multiple solid tumors might be faced in some patients, especially the young. These tumors might be related to certain hereditary cancer syndromes or certain genetic predispositions. CASE REPORT: We present the case of a 19-year-old woman with met...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616025/ https://www.ncbi.nlm.nih.gov/pubmed/23569533 http://dx.doi.org/10.12659/AJCR.883382 |
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author | Ahmed, Hytham Salama, Asmaa Salem, Salem Eid Bahnassy, Abeer A. |
author_facet | Ahmed, Hytham Salama, Asmaa Salem, Salem Eid Bahnassy, Abeer A. |
author_sort | Ahmed, Hytham |
collection | PubMed |
description | BACKGROUND: Simultaneous or consequent development of multiple solid tumors might be faced in some patients, especially the young. These tumors might be related to certain hereditary cancer syndromes or certain genetic predispositions. CASE REPORT: We present the case of a 19-year-old woman with metastatic breast cancer to the contralateral axillary lymph node, associated with simultaneous osteosarcoma of the left lower femur. As she did not fit into any of the familial cancer syndromes, genetic predisposition was suspected. We detected MLH1 and MSH2 promotor methylation (PM), microsatellite instability (MSI), and different mutational events in both tumors. BRCA1 gene mutations were detected in the breast tumor, with reduced mRNA expression of BRCA1&2. ERCC1, MLH1 and MSH2, especially in OS, and RRM1 was overexpressed in both tumors. CONCLUSIONS: Aberrations in MMR genes could explain simultaneous or consequent development of multiple solid tumors, especially in a young patient. We recommend detecting these defects, close follow-up for those patients, and genetic counseling for their family members. Further studies in a larger population are essential to support our results. |
format | Online Article Text |
id | pubmed-3616025 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-36160252013-04-08 A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors Ahmed, Hytham Salama, Asmaa Salem, Salem Eid Bahnassy, Abeer A. Am J Case Rep Case Report BACKGROUND: Simultaneous or consequent development of multiple solid tumors might be faced in some patients, especially the young. These tumors might be related to certain hereditary cancer syndromes or certain genetic predispositions. CASE REPORT: We present the case of a 19-year-old woman with metastatic breast cancer to the contralateral axillary lymph node, associated with simultaneous osteosarcoma of the left lower femur. As she did not fit into any of the familial cancer syndromes, genetic predisposition was suspected. We detected MLH1 and MSH2 promotor methylation (PM), microsatellite instability (MSI), and different mutational events in both tumors. BRCA1 gene mutations were detected in the breast tumor, with reduced mRNA expression of BRCA1&2. ERCC1, MLH1 and MSH2, especially in OS, and RRM1 was overexpressed in both tumors. CONCLUSIONS: Aberrations in MMR genes could explain simultaneous or consequent development of multiple solid tumors, especially in a young patient. We recommend detecting these defects, close follow-up for those patients, and genetic counseling for their family members. Further studies in a larger population are essential to support our results. International Scientific Literature, Inc. 2012-09-10 /pmc/articles/PMC3616025/ /pubmed/23569533 http://dx.doi.org/10.12659/AJCR.883382 Text en © Am J Case Rep, 2012 This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. |
spellingShingle | Case Report Ahmed, Hytham Salama, Asmaa Salem, Salem Eid Bahnassy, Abeer A. A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors |
title | A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors |
title_full | A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors |
title_fullStr | A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors |
title_full_unstemmed | A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors |
title_short | A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors |
title_sort | case of synchronous double primary breast carcinoma and osteosarcoma: mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616025/ https://www.ncbi.nlm.nih.gov/pubmed/23569533 http://dx.doi.org/10.12659/AJCR.883382 |
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