BRCA gene amplification in primary peritoneal high-grade serous carcinoma patient with intrinsic resistance to platinum treatment: a case report.

IF 4.4 Q1 PATHOLOGY PATHOLOGICA Pub Date : 2023-04-01 DOI:10.32074/1591-951X-871
Fiamma Buttitta, Pietro Di Marino, Lara Felicioni, Francesca Chiara Primavera, Benedetta Ferro, Claudia Zampacorta, Maria Paola Pasciuto, Rebecca Rossetti, Marianna Tudini, Antonio Marchetti, Emanuela D'Angelo
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Abstract

Platinum-based chemotherapy is the standard chemotherapy for high grade serous ovarian cancer and primary peritoneal high-grade serous carcinoma. PARP inhibitors have changed the paradigm of the treatment in platinum-sensitive ovarian cancers and primary peritoneal high-grade serous carcinoma with BRCA1/2 mutation or homologous recombination deficiency (HRD). Platinum-resistant ovarian and primary peritoneal high-grade serous carcinoma have a lower chance to treat and have worse outcomes. We described a case of patient with a platinum resistant primary peritoneal high-grade serous carcinoma with a rare somatic BRCA2 amplification. There are no guidelines for the treatment of ovarian cancer or primary peritoneal high-grade serous carcinoma with BRCA2 amplification. BRCA2 amplification could result in extreme homologous recombination repair (HRR) pathway efficiency and in less platinum sensitivity, which could be a molecular signature for platinum resistance. Free platinum chemotherapy regimens could be more effective in cases with BRCA2 amplification. Further studies are necessary to establish better approaches and strategies for oncological management and treatment in BRCA2 amplification high grade ovarian cancer and primary peritoneal high-grade serous carcinoma.

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BRCA基因扩增在原发性腹膜高级别浆液性癌患者内在耐铂治疗:1例报告。
铂基化疗是高级别浆液性卵巢癌和原发性腹膜高级别浆液性癌的标准化疗方案。PARP抑制剂已经改变了铂敏感性卵巢癌和BRCA1/2突变或同源重组缺陷(HRD)的原发性腹膜高级别浆液性癌的治疗模式。铂耐药卵巢和原发性腹膜高级别浆液性癌的治疗机会较低,预后较差。我们描述了一例患者铂耐药原发性腹膜高级别浆液性癌与罕见的体细胞BRCA2扩增。目前尚无治疗卵巢癌或BRCA2扩增的原发性腹膜高级别浆液性癌的指南。BRCA2扩增可能导致极端的同源重组修复(HRR)途径效率和铂敏感性降低,这可能是铂耐药的分子特征。游离铂化疗方案可能对BRCA2扩增的病例更有效。需要进一步的研究来建立更好的BRCA2扩增高级别卵巢癌和原发性腹膜高级别浆液性癌的肿瘤管理和治疗方法和策略。
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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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