McHenry Austin, Rottmann Douglas A, Buza Natalia, Hui Pei
Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
Department of Pathology, University of Michigan, Ann Arbor, MI, USA.
Virchows Arch. 2023 Jul;483(1):71-79. doi: 10.1007/s00428-023-03564-z. Epub 2023 May 23.
Oncogenic activation of the mitogen-activated protein kinase (MAPK) pathway due to KRAS or BRAF gain-of-function mutation is frequently found in ovarian serous borderline tumor (SBT) and their extraovarian implants. We investigated mutational status of KRAS and BRAF of the primary ovarian SBTs that had a high stage presentation in correlation with clinical outcome. Among 39 consecutive primary SBTs with either invasive implants (20 cases) or non-invasive implants (19 cases), KRAS and BRAF mutational analysis was informative in 34 cases. Sixteen cases (47%) harbored a KRAS mutation, while 5 cases (15%) had a BRAF V600E mutation. High-stage disease (IIIC) was seen in 31% (5/16) of patients with a KRAS mutation and 39% (7/18) of patients without a KRAS mutation (p = 0.64). KRAS mutations were present in 9/16 (56%) tumors with invasive implants/LGSC versus 7/18 (39%) tumors with non-invasive implants (p = 0.31). BRAF mutation was seen in 5 cases with non-invasive implants. Tumor recurrence was seen in 31% (5/16) of patients with a KRAS mutation, compared to 6% (1/18) of patients without a KRAS mutation (p = 0.04). A KRAS mutation predicted an adverse disease-free survival (31% survival at 160 months) compared to those with wild-type KRAS (94% at 160 months; log-rank test, p = 0.037; HR 4.47). In conclusion, KRAS mutation in primary ovarian SBTs is significantly associated with a worse disease-free survival, independent of the high tumor stage or histological subtypes of extraovarian implant. KRAS mutation testing of primary ovarian SBT may servce as a useful biomarker for tumor recurrence.
由于KRAS或BRAF功能获得性突变导致的丝裂原活化蛋白激酶(MAPK)通路的致癌激活在卵巢浆液性交界性肿瘤(SBT)及其卵巢外种植体中经常被发现。我们研究了具有高分期表现的原发性卵巢SBT中KRAS和BRAF的突变状态及其与临床结果的相关性。在39例连续的原发性SBT中,有侵袭性种植体(20例)或非侵袭性种植体(19例),KRAS和BRAF突变分析在34例中具有信息价值。16例(47%)携带KRAS突变,而5例(15%)有BRAF V600E突变。KRAS突变患者中31%(5/16)出现高分期疾病(IIIC期),无KRAS突变患者中39%(7/18)出现高分期疾病(p = 0.64)。侵袭性种植体/低级别浆液性癌的16个肿瘤中有9个(56%)存在KRAS突变,而非侵袭性种植体的18个肿瘤中有7个(39%)存在KRAS突变(p = 0.31)。5例非侵袭性种植体病例出现BRAF突变。KRAS突变患者中31%(5/16)出现肿瘤复发,无KRAS突变患者中6%(1/18)出现肿瘤复发(p = 0.04)。与野生型KRAS患者相比,KRAS突变预测无病生存期较差(160个月时生存率为31%)(野生型KRAS患者160个月时生存率为94%;对数秩检验,p = 0.037;风险比4.47)。总之,原发性卵巢SBT中的KRAS突变与较差的无病生存期显著相关,与肿瘤高分期或卵巢外种植体的组织学亚型无关。原发性卵巢SBT的KRAS突变检测可能作为肿瘤复发的有用生物标志物。