RESUMO
We present here a case of a BRCA1 mutation carrier with repeat responsiveness of recurrent EOC to paclitaxel/platinum. The patient had complete response to the combination of paclitaxel/platinum in the first line. Subsequent four recurrences also showed a complete response to this combination. The chronic toxicity, including hypersensitivity and nephrotoxicity could be controlled by modifying the regimen. In conclusion, recurrent EOC in BRCA1 mutation carriers may retain sensitivity to paclitaxel/platinum combination chemotherapy, and this combination could be therapy of first choice in this patient population.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma/tratamento farmacológico , Carcinoma/genética , Genes BRCA1 , Mutação , Recidiva Local de Neoplasia/tratamento farmacológico , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/genética , Neoplasias da Mama/genética , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas , Paclitaxel/administração & dosagem , Compostos de Platina/administração & dosagemRESUMO
BACKGROUND: Oncological diseases have, in most cases, a multifactorial etiology, composed of a combination of external and internal environmental factors. Hereditary tumorous syndromes are mostly autosomal dominant diseases with incomplete but very high penetrance. OBSERVATION: The patient, an 18-year-old virgin female, consulted a gynecologist in June 2018 because of metrorrhagia. Magnetic resonance imaging revealed a cervical tumor with the dimensions 80 × 90 × 80 mm. Histological analysis confirmed the presence of a very rare hypercalcemic type of small-cell carcinoma of the cervix. Further investigation of the germinal exom of the patient showed pathological variations in genes PALB2 and BRCA2, presented with recommendation of detailed examination by medical genetics. CONCLUSION: Clinical experience with this type of tumor is very limited, but it still comes with some useful outcome. Small cell carcinomas of the gynecologic tract are very rare, aggressive diseases, with very poor prognosis, affecting mainly young women. Their origin is most often the ovaries, based on most clinical data, but these tumor also localize to the endometrium, cervix, vagina and vulva. It is an extremely rare type of cancer, for which clinical data is scant due to the extremely low number of reported cases. In this patient, the carcinoma had an unusual genetical mutation burden, which she inherited from her parents. In the light of these findings, we recommend that patients suspected of having a small-cell of the gynecologic tract provide a detailed family history, and that genetic testing be considered in similar cases. This work was supported by MH CR grant 16-33209A and research program of Charles University Progress Q40/06. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 10. 6. 2019 Accepted: 9. 9. 2019.
Assuntos
Proteína BRCA2/genética , Carcinoma de Células Pequenas/genética , Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Hipercalcemia/genética , Neoplasias do Colo do Útero/genética , Adolescente , Carcinoma de Células Pequenas/diagnóstico por imagem , Carcinoma de Células Pequenas/patologia , Feminino , Humanos , Hipercalcemia/diagnóstico por imagem , Hipercalcemia/patologia , Imageamento por Ressonância Magnética , Mutação , Neoplasias do Colo do Útero/diagnóstico por imagem , Neoplasias do Colo do Útero/patologiaRESUMO
The prognosis of patients with BRCA1-related breast carcinomas is inferior to the patients without BRCA1 mutation, but most of these tumors have a so-called triple negative phenotype characterized by increased chemosensitivity. Information regarding the chemosensitivity of BRCA1-related breast carcinomas is limited. We present a case of a mother and daughter with hereditary breast carcinoma treated with primary chemotherapy using the dose-dense combination of doxorubicin and cyclophosphamide and sequential weekly paclitaxel administration. Pathological complete response was observed in both patients. Subsequent genetic analysis revealed the same BRCA1 mutation with exon 5-14 deletion in both women. The present experience as well as other reports indicate increased sensitivity of BRCA1-related breast carcinoma to primary chemotherapy.