Department of Surgery, Brigham and Women's Hospital, Boston, MA, USA.
Department of Medical Oncology, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, 02215, USA.
Breast Cancer Res Treat. 2021 Apr;186(3):815-821. doi: 10.1007/s10549-020-06027-0. Epub 2020 Nov 26.
Synchronous bilateral breast cancer is uncommon, and its pattern and incidence among younger women is unknown. Here we report the incidence, phenotypes, and long-term oncologic outcomes of bilateral breast cancer in women enrolled in the Young Women's Breast Cancer Study (YWS).
The YWS is a multi-center, prospective cohort study of women with breast cancer diagnosed at age ≤ 40 years. Those with synchronous bilateral breast cancer formed our study cohort. Tumor phenotypes were categorized as luminal A (hormone receptor (HR)+/HER2-/grade 1/2), luminal B (HR+ /HER2+ or HER2- and grade 3), HER2-enriched (HR-/HER2+), or basal-like (HR-/HER2-). Descriptive statistics were used to evaluate tumor phenotypes of bilateral cancers for concordance.
Among 1302 patients enrolled in the YWS, 21 (1.6%) patients had synchronous bilateral disease. The median age of diagnosis was 38 years (range 18-40 years). Seventeen (81.0%) underwent genetic testing with 6 found to have pathogenic germline mutations in BRCA1, BRCA2, or TP53. The majority of patients (76.2%) underwent bilateral mastectomy. On pathology, 2 patients had bilateral in-situ disease, 6 had unilateral invasive and contralateral in-situ disease, and 13 had bilateral invasive disease. Of those with bilateral invasive disease, 10 (76.9%) had bilateral luminal tumors and, when fully characterized, 6 were of the same luminal subtype. Only 1 patient had bilateral basal-like breast cancer. At median follow-up of 8.2 years, 14 patients are alive with no recurrent disease.
Bilateral breast cancer is uncommon among young women diagnosed with breast cancer at age ≤ 40. In our cohort, the majority of invasive tumors were of the luminal phenotype, though some differed by grade or HER2 status. These findings support the need for thorough pathologic workup of bilateral disease when it is found in young women with breast cancer to determine risk and tailor treatment.
双侧乳腺癌较为少见,其在年轻女性中的发病模式和发病率尚不清楚。本研究报告了入组年轻女性乳腺癌研究(YWS)的女性中双侧乳腺癌的发病率、表型和长期肿瘤学结局。
YWS 是一项多中心、前瞻性队列研究,入组年龄≤40 岁诊断为乳腺癌的女性。那些患有双侧同步性乳腺癌的患者构成了我们的研究队列。肿瘤表型分为 luminal A 型(激素受体(HR)+/HER2-/分级 1/2)、luminal B 型(HR+/HER2+或 HER2-且分级 3)、HER2 富集型(HR-/HER2+)或基底样型(HR-/HER2-)。采用描述性统计方法评估双侧癌症肿瘤表型的一致性。
在入组的 1302 例 YWS 患者中,21 例(1.6%)患者患有双侧同步性疾病。中位诊断年龄为 38 岁(范围 18-40 岁)。17 例(81.0%)接受了基因检测,其中 6 例发现 BRCA1、BRCA2 或 TP53 存在致病性种系突变。大多数患者(76.2%)接受了双侧乳房切除术。病理上,2 例患者双侧原位疾病,6 例单侧浸润性和对侧原位疾病,13 例双侧浸润性疾病。在双侧浸润性疾病患者中,10 例(76.9%)为双侧 luminal 肿瘤,当完全特征化时,其中 6 例为相同的 luminal 亚型。仅有 1 例患者为双侧基底样乳腺癌。中位随访 8.2 年后,14 例患者无疾病复发且存活。
在≤40 岁诊断为乳腺癌的年轻女性中,双侧乳腺癌较为少见。在我们的队列中,大多数浸润性肿瘤为 luminal 表型,但某些肿瘤在分级或 HER2 状态上存在差异。这些发现支持在年轻女性乳腺癌中发现双侧疾病时,需要进行全面的病理检查,以确定风险并制定治疗方案。