ArticleThe American journal of case reports2012
A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors.
Article in The American journal of case reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Mismatch repair deficiency is rare in bone and soft tissue tumors.Histopathology · 2021Pooled it
- Malignant fibrous histiocytoma of the axilla with breast cancer: A case report.World journal of clinical cases · 2022Article
- A Pan-Cancer Analysis on the Systematic Correlation of MutS Homolog 2 (MSH2) to a Malignant Tumor.Journal of oncology · 2022Article
- Effects of distinct drugs on gene transcription in an osteosarcoma cell line.Oncology letters · 2017Article
- Analysis of the molecular mechanism of osteosarcoma using a bioinformatics approach.Oncology letters · 2016Article
- The Functional Role of PMP22 Gene in the Proliferation and Invasion of Osteosarcoma.Medical science monitor : international medical journal of experimental and clinical research · 2015Article
- Breast Cancer and Multiple Primary Malignant Tumors: Case Report and Review of the Literature.In vivo (Athens, Greece)Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSimultaneous 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.
conclusionsAberrations 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.
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