de Castro João Víctor Alves, Dos Santos Pedro José Silva, Mantoan Henrique, Baiocchi Glauco, Bovolim Graziele, Torrezan Giovana, Corassa Marcelo, do Nascimento Antônio Geraldo, De Brot Marina, Costa Felipe D'Almeida, De Brot Louise
Anatomic Pathology Department, A.C.Camargo Cancer Center (J.V.A.D.C., P.J.S.D.S., G.B., M.D.B., F.D.A.C., L.D.B., A.G.d.N.); Gynecology Oncology Unit, A.C.Camargo Cancer Center (H.M., G.B.); CIPE - Centro Internacional de Ensino e Pesquisa, A.C.Camargo Cancer Center (G.T.); and Medical Oncology Unit, A.C.Camargo Cancer Center (M.C.) São Paulo, Brazil.
Int J Gynecol Pathol. 2024 Jan 1;43(1):56-60. doi: 10.1097/PGP.0000000000000957. Epub 2023 Aug 14.
NTRK gene fusions are part of a paradigm shift in oncology, arising as one of the main genomic alterations with actionability in the so-called "agnostic setting." In gynecologic pathology, the recent description of uterine sarcoma resembling fibrosarcoma and with NTRK rearrangements ( NTRK -rearranged uterine sarcoma) highlights the importance of recognizing clinicopathological cues that can lead to genomic profiling. Herein, we report the case of a 43-year-old woman presenting with vaginal bleeding and pelvic mass. Histopathology of the tumor showed moderately atypical spindle cells arranged in long fascicles reminiscent of fibrosarcoma, along with immunohistochemical positivity for S100, CD34, and pan-tropomyosin receptor kinase. This prompted RNA-sequencing and the finding of a rare EML4::NTRK3 fusion. Clinical, histologic, and molecular findings are described, in addition to discussions regarding differential diagnoses and possible implications of the findings in clinical practice.
神经营养酪氨酸激酶（NTRK）基因融合是肿瘤学范式转变的一部分，是所谓“非特异性背景”下具有可操作性的主要基因组改变之一。在妇科病理学中，最近对类似纤维肉瘤且具有NTRK重排的子宫肉瘤（NTRK重排的子宫肉瘤）的描述凸显了识别可导致基因组分析的临床病理线索的重要性。在此，我们报告一例43岁女性，表现为阴道出血和盆腔肿块。肿瘤的组织病理学显示中度非典型梭形细胞呈长束状排列，类似纤维肉瘤，同时S100、CD34和泛原肌球蛋白受体激酶免疫组化呈阳性。这促使进行RNA测序，并发现了一种罕见的棘皮动物微管相关蛋白样4（EML4）::神经营养酪氨酸激酶3（NTRK3）融合。除了讨论鉴别诊断以及这些发现对临床实践的可能影响外，还描述了临床、组织学和分子学发现。
