Int J Gynecol Pathol. 2021 Jan;40(1):73-77. doi: 10.1097/PGP.0000000000000669.
The NTRK genes (NTRK1, NTRK2, and NTRK3) encode for TrkA, TrkB, and TrkC, neurotrophic tyrosine receptor kinases which serve a variety of functions including in the regulation of pathways involved in carcinogenesis. A number of reports have described NTRK gene fusions in a variety of adult and pediatric tumor types from various organ systems including the central nervous system, thyroid gland, breast, and soft tissue. NTRK-rearranged uterine sarcomas are a recently described group of tumors which occur in both the uterine corpus and cervix, tend to morphologically resemble fibrosarcoma, and may behave aggressively, although data is limited given the newly recognized nature and thus relative rarity of these tumors. Herein, we present the case of a cervical sarcoma with SPECC1L-NTRK3 fusion (detected with Illumina RNA Fusion Panel), prospectively diagnosed at the time of cervical biopsy and subsequently treated with hysterectomy. The clinical presentation, radiologic findings, morphologic features, and immunohistochemical profile of this case will be reviewed and compared with the body of existing literature to date. Identification of NTRK-rearranged neoplasms is important as targeted therapy in the form of NTRK inhibitors has recently become widely available.
NTRK 基因(NTRK1、NTRK2 和 NTRK3)编码神经酪氨酸受体激酶 TrkA、TrkB 和 TrkC,其具有多种功能,包括参与致癌发生途径的调节。许多报告描述了来自各种器官系统(包括中枢神经系统、甲状腺、乳腺和软组织)的多种成人和儿科肿瘤类型中的 NTRK 基因融合。NTRK 重排的子宫肉瘤是最近描述的一组肿瘤,发生在子宫体和子宫颈,形态上倾向于类似于纤维肉瘤,并且可能具有侵袭性,尽管由于这些肿瘤是新认识到的,因此数据有限,相对罕见。在此,我们介绍了一例宫颈肉瘤,具有 SPECC1L-NTRK3 融合(通过 Illumina RNA 融合panel 检测到),在宫颈活检时前瞻性诊断,并随后接受子宫切除术治疗。将回顾和比较本病例的临床表现、影像学发现、形态学特征和免疫组织化学特征,并与现有文献进行比较。鉴定 NTRK 重排的肿瘤很重要,因为 NTRK 抑制剂的靶向治疗最近已广泛应用。