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Therapy-related myeloid neoplasms in epithelial ovarian cancer patients carrying BRCA1 mutation: Report of two cases

Publikace na Lékařská fakulta v Hradci Králové |
2012

Tento text není v aktuálním jazyce dostupný. Zobrazuje se verze "en".Abstrakt

We present here two cases of BRCA1 mutation carriers with repeat responsiveness of recurrent epithelial ovarian cancer (EOC) to paclitaxel/platinum that finally succumbed to therapy-related myeloid neoplasms. The first case was a 49-year-old female with a history of triple negative breast cancer who was diagnosed stage IIIC EOC.

The platinum-based chemotherapy was initiated and subsequently used also for two recurrences. Finally, the patient developed therapy-related myelodysplastic syndrome (refractory anemia with excess blasts 1) and died on pneumonia.

The genetic analysis revealed BRCA1 mutation in exon 20 (c.5385dupC). The second case was a 62-year-old female with a history of bilateral breast cancer who was diagnosed stage IIIC EOC.

The platinum-based chemotherapy was initiated and subsequently used also for three recurrences. Finally, the patient developed therapy-related acute myeloid leukemia and died.

The genetic analysis revealed BRCA1 mutation in exon 13 (c.4237G>T/p.Glu1413X). Present experience indicates that therapy-related myeloid neoplasms may occur in BRCA1 carriers as a complication of recurrent EOC controlled by repeat administration of platinum-based chemotherapy.