Punneshetty Sahana, Daniel Sherin, Thomas Shawn, Sebastian Ajit, Singh Ashish, Chapla Aaron, Danda Sumita, Paul M J, Thomas Anitha, Peedicayil Abraham, Chandy Rachel G
Department of Gynaecologic Oncology, Christian Medical College, Vellore, India.
Department of Pathology, Christian Medical College, Vellore, India.
J Obstet Gynaecol India. 2025 Apr;75(Suppl 1):113-120. doi: 10.1007/s13224-024-02019-y. Epub 2024 Jul 31.
Breast cancer is most common cancer among women and hereditary mutations account for 5-10%. HBOC syndrome is most common hereditary mutation affecting breast & ovary. The prevalence of STIC lesions in these women ranges from 2 to 12% and that in general population is unknown. Role of risk reduction salpingo-oophorectomy (RRSO) is well established among these women. Surgical ovarian ablation also plays role in hormone positive breast cancers in prolonging their survival by permanent hormone suppression. The role of oophorectomy has different impacts in breast cancer.
The study aimed to determine the different indications for oophorectomy and their histologies among premenopausal breast cancer women. This was a prospective cross sectional study of breast cancer women diagnosed ≤ 50 years of age. All these women underwent genetic counselling, gynaecology examination, transvaginal scan &CA 125 testing. Surgery was offered to women with BRCA mutations (RRSO) and also for hormone receptor positive women (surgical ovarian ablation). Histopathologies of these women were analysed using SEE-FIM protocol.
A total of 98 breast cancer women were identified. The median age was 41.5 years (SD 5.7) & median CA 125 was 9.3 (IQR 6-20.5). The genetic acceptance rate was 18%. Four patients were germline BRCA 1/2 positive, 1 VUS, 13 negative and 80 didn't opt for test. Ultrasound imaging showed cystic ovaries among 12 patients. Most of them had benign features. Twenty two patients underwent surgery (bilateral salpingo-oophorectomy)-3 BRCA positive and rest for hormone positive breast cancer. Histopathologies were normal except for Krukenberg's mets in one hormone positive breast cancer patient.
The incidence of germline mutations in our study was 5%. STIC lesions were not detected in our study, attributing to low acceptance of genetic testing. The value of screening for ovarian cancer was limited. Incorporation of genetics into routine gynaecology oncology clinic needs further addressal. Our study opened the doors for the genetic awareness among these young women.
乳腺癌是女性中最常见的癌症,遗传性突变占5%至10%。遗传性乳腺癌和卵巢癌综合征(HBOC)是影响乳腺和卵巢的最常见遗传性突变。这些女性中浆液性输卵管上皮内癌(STIC)病变的发生率为2%至12%,而在普通人群中的发生率尚不清楚。降低风险的输卵管卵巢切除术(RRSO)在这些女性中的作用已得到充分证实。手术去势在激素阳性乳腺癌中也通过永久性激素抑制作用延长患者生存期。卵巢切除术在乳腺癌中的作用具有不同影响。
本研究旨在确定绝经前乳腺癌女性卵巢切除术的不同适应证及其组织学情况。这是一项对诊断年龄≤50岁的乳腺癌女性进行的前瞻性横断面研究。所有这些女性均接受了遗传咨询、妇科检查、经阴道超声检查及CA 125检测。为携带BRCA突变的女性(RRSO)以及激素受体阳性女性(手术去势)提供手术。使用SEE-FIM方案分析这些女性的组织病理学情况。
共纳入98例乳腺癌女性。中位年龄为41.5岁(标准差5.7),中位CA 125为9.3(四分位间距6 - 20.5)。遗传检测接受率为18%。4例患者胚系BRCA 1/2阳性,1例意义不明确的变异(VUS),13例阴性,80例未选择检测。超声成像显示12例患者卵巢呈囊性。其中大多数具有良性特征。22例患者接受了手术(双侧输卵管卵巢切除术)——3例BRCA阳性,其余为激素阳性乳腺癌患者。除1例激素阳性乳腺癌患者出现库肯勃瘤转移外,组织病理学结果均正常。
我们研究中胚系突变的发生率为5%。本研究未检测到STIC病变,这归因于遗传检测接受率较低。卵巢癌筛查价值有限。将遗传学纳入常规妇科肿瘤门诊仍需进一步探讨。我们的研究为提高这些年轻女性的遗传意识打开了大门。