Lux Michael P, Decker Thomas, Runkel Eva Diana, Niyazov Alexander, Quek Ruben G W, Marschner Norbert, Harbeck Nadia
Kooperatives Brustzentrum Paderborn, Paderborn, Germany.
St. Josefs-Krankenhaus, Salzkotten, Germany.
Breast Care (Basel). 2022 Feb;17(1):40-46. doi: 10.1159/000513596. Epub 2021 Feb 18.
Diagnostic testing of germline mutations in or (g) in patients with human epidermal growth factor receptor 2 negative (HER2-) advanced breast cancer (ABC; locally advanced or metastatic breast cancer) is necessary to assess eligibility for poly(ADP-ribose) polymerase inhibitors (PARPi). We investigated awareness, clinical practice, and the availability of g mutation testing in the German outpatient oncology setting.
Office-based oncologists completed a 23-item online survey. Responses were evaluated collectively and by center type.
Of 50 oncologists, 33 and 17 were medical and gynecological oncologists, respectively. Oncologists treated a median of 65 (range 14-350) patients with ABC per year. The strongest decision factors to initiate g mutation testing were: patient's known family history of g mutation-related cancer(s), guideline recommendations, and triple-negative breast cancer (TNBC). In routine practice, 86% of oncologists tested for g mutations. Most oncologists (76-98%) reported testing patients with a known family history of g mutation-related cancer(s) irrespective of receptor status. For unknown family history, 92% of oncologists reported testing patients with advanced TNBC versus 30% for HR+/HER2- ABC. Oncologists (66%) rated the awareness of therapeutic relevance of g mutation testing for targeted treatment selection as good to satisfactory; 22% rated awareness as poor to in-sufficient.
Diagnostic g mutation testing in patients with HER2- ABC is available and routinely performed in Germany's outpatient oncology setting. However, specific patient subgroups were not routinely tested despite therapeutic indications. Given PARPi availability, opportunities exist to improve testing rates especially for patients with HR+/HER2- ABC without a known family history of g mutation-related cancer(s).
对于人表皮生长因子受体2阴性(HER2-)的晚期乳腺癌(ABC;局部晚期或转移性乳腺癌)患者,检测胚系BRCA1或BRCA2(gBRCA)突变对于评估聚(ADP-核糖)聚合酶抑制剂(PARPi)的适用性是必要的。我们调查了德国门诊肿瘤学环境中对gBRCA突变检测的认知、临床实践及可及性。
以办公室为基础的肿瘤学家完成了一项包含23个条目的在线调查。对回复进行了总体评估及按中心类型的评估。
50名肿瘤学家中,分别有33名和17名是医学肿瘤学家和妇科肿瘤学家。肿瘤学家每年治疗ABC患者的中位数为65例(范围14 - 350例)。启动gBRCA突变检测的最强决策因素为:患者已知的gBRCA突变相关癌症家族史、指南推荐以及三阴性乳腺癌(TNBC)。在常规实践中,86%的肿瘤学家检测gBRCA突变。大多数肿瘤学家(76 - 98%)报告称,无论受体状态如何,都会对已知有gBRCA突变相关癌症家族史的患者进行检测。对于未知家族史的患者,92%的肿瘤学家报告对晚期TNBC患者进行检测,而HR+/HER2- ABC患者的检测比例为30%。肿瘤学家(66%)认为gBRCA突变检测对靶向治疗选择的治疗相关性认知良好至满意;22%认为认知较差至不足。
在德国门诊肿瘤学环境中,HER2- ABC患者的诊断性gBRCA突变检测是可行且常规进行的。然而,尽管有治疗指征,特定患者亚组并未常规检测。鉴于PARPi的可及性,存在提高检测率的机会,尤其是对于没有已知gBRCA突变相关癌症家族史的HR+/HER2- ABC患者。