|Table of Contents|

The clinicopathological analysis of cervical NTRK-rearranged spindle cell tumor

Journal Of Modern Oncology[ISSN:1672-4992/CN:61-1415/R]

Issue:
2023 11
Page:
2068-2072
Research Field:
Publishing date:

Info

Title:
The clinicopathological analysis of cervical NTRK-rearranged spindle cell tumor
Author(s):
ZHOU Xiaoqing1; ZHANG Shan1; SU Zhansan1; ZENG Xiangyang2; CHEN Xiaoyan3; ZOU Qiong1
1.Department of Pathology;2.Department of Obstetrics and Gynecology，the Third Xiangya Hospital，Central South University，Hunan Changsha 410013，China;3.Department of Pathology，Hunan Cancer Hospital，Hunan Changsha 410031，China.
Keywords:
cervical neoplasm; NTRK-rearrangement; immunohistochemistry; FISH; NGS
PACS:
R737.33
DOI:
10.3969/j.issn.1672-4992.2023.11.018
Abstract:
Objective:To investigate the clinicopathological features，immunophenotype，molecular changes and differential diagnosis of cervical NTRK-rearranged spindle cell tumor.Methods:The clinicopathological and immunophenotypic features of two cases of cervical NTRK-rearranged spindle cell tumor were retrospectively analyzed.FISH and NGS were used to detect NTRK gene.Results:Microscopically，relatively uniform spindle cells were arranged in fascicles and fishbone-like appearance，with "fibrosarcoma-like"morphology.The tumor was associated with a focal myxoid stroma.The tumor was abundant of blood vessels，with scattered lymphocyte infiltration around the blood vessels.The tumor cells were mild to moderate atypical and mitotic figures are rare，with few coagulative necrosis.Immunohistochemically，the positive expression of the pan-TRK was diffuse and strong in tumor cells.Vimentin，WT-1，CD34，cyclinD1，and S-100 were also variable positive expressed.FISH of the case 1 showed that the NTRK3 gene was broken，and NGS detected the KHDRBS1-NTRK3 fusion.NGS of the case 2 detected the TPR-NTRK1 fusion.Conclusion:Cervical NTRK-rearranged spindle cell tumor is rare，and the diagnosis is mainly based on pathological morphology，immunophenotype and molecular testing.

References:

［1］KHOTSKAYA YB，HOLLA VR，FARAGO AF，et al.Targeting TRK family proteins in cancer［J］.Pharmacol Ther，2017，173：58-66.
［2］COCCO E，SCALTRITI M，DRILON A.NTRK fusion-positive cancers and TRK inhibitor therapy［J］.Nat Rev Clin Oncol，2018，15(12):731-747.
［3］SUURMEIJER AJH，DICKSON BC，SWANSON D，et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expression shows recurrent fusions involving RAF1，BRAF，and NTRK1/2 genes［J］.Genes Chromosomes Cancer，2018，57(12):611-621.
［4］WHO Classifications of Tumours Editorial Board.WHO classification of tumours of soft tissue and bone［M］.5th ed.Lyon：IARC Press，2020，78(5):644-657.
［5］CHIANG S，COTZIA P，HYMAN DM，et al.NTRK fusions define a novel uterine sarcoma subtype with features of fibrosarcoma［J］.Am J Surg Pathol，2018，42（6)：791-798.
［6］CROCE S，HOSTEIN I，LONGACRE TA，et al.Uterine and vaginal sarcomas resembling fibrosarcoma：a clinicopathological and molecular analysis of 13 cases showing common NTRK-rearrangements and the description of a COL1A1-PDGFB fusion novel to uterine neoplasms［J］.Mod Pathol，2019，32(7):1008-1022.
［7］RABBAN JT，DEVINE WP，SANGOI AR，et al.NTRK fusion cervical sarcoma：a report of three cases，emphasising morphological and immunohistochemical distinction from other uterine sarcomas，including adenosarcoma［J］.Histopathology，2020，77(1):100-111.
［8］WILLIAM BOYLE，ANTHONY WILLIAMS.TMP3-NTRK1 rearranged uterine sarcoma：A case report［J］.Case Rep Womens Health，2020，28:e00246.
［9］HODGSON A，PUN C，DJORDJEVIC B，et al.NTRK-rearranged cervical sarcoma：expanding the clinicopathologic spectrum［J］.Int J Gynecol Pathol,2021，40(1):73-77.
［10］WELLS AE，MALLEN AM，BUI MM，et al.NTRK-1 fusion inendocervical fibroblastic malignant peripheral nerve sheath tumor marking eligibility for larotrectinib therapy：a case report［J］.Gynecol Oncol Rep，2019，28:141-144.
［11］NILFOROUSHAN N，WETHINGTON SL，NONOGAKI H，et al.NTRK-Fusionsarcoma of the uterine cervix：report of 2 cases with comparative clinicopathologic features［J］.Int J GynecolPathol，2022，41（6）：642-648.
［12］GOULDING EA，MORREAU P，DE SM，et al.Case report：NTRK1-rearranged cervical sarcoma with fibrosarcoma like morphology presenting in a 13-year-old managed with a neo-adjuvant TRK-inhibitor and surgical excision［J］.Gynecol Oncol Rep，2021，37:100845.
［13］LANMAN T，HAYDEN GEPHART M.Isolated leptomeningeal progression in a patient with NTRK fusion+uterine sarcoma：A case report［J］.Case Rep Oncol,2021，14(3):1841-1846.
［14］GATALICA Z，XIU J，SWENSEN J，et al.Molecular characterization of cancers with NTRK gene fusions［J］.Mod Pathol，2019，32(1):147-153.
［15］WONG DD，VARGAS AC，BONAR F，et al.NTRK-rearranged mesenchymal tumours：diagnostic challenges，morphological patterns and proposed testing algorithm［J］.Pathology，2020，52(4):401-409.
［16］MICHAL M，HAJKOVA V，SKALOVA A，et al.STRN-NTRK3-rearranged mesenchymal tumor of the uterus：expanding the morphologic spectrum of tumors with NTRK fusions［J］.Am J Surg Pathol，2019，43(8):1152-1154.
［17］LIU HH，HU JB，CHEN QR，et al. A clinicopathological analysis of NTRK-rearranged cervical sarcoma［J］.Chinese Journal of Clinical and Experimental Pathology，2021，37（100）：240-243.
［18］AGARAM NP，ZHANG L，SUNG YS，et al.Recurrent NTRK1 gene fusions define a novel subset of locally aggressive lipofibromatosis-like neural tumors［J］.Am J Surg Pathol，2016，40(10):1407-1416.
［19］TALLEGAS M，FRAITAG S，BINET A,et al.Novel KHDRBSI-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor:a case report［J］.Virchows Archiv，2019，474(1):111-115.
［20］CROCE S，HOSTEIN I，MCCLUGGAGE WG.NTRK and other recently described kinase fusion positive uterine sarcomas：A review of a group of rare neoplasms［J］.Genes Chromosomes Cancer，2021，60(3):147-159.
［21］SUGARBAKER P,IHEMELANDU C,BIJELIC L.Cytoreductive surgery and HIPEC as a treatment option for laparoscopic resection of uterine leiomyosarcoma with morcellation：early results［J］.Ann Surg Oncol，2016，23(5):1501-1507.
［22］SARDI A,SIPOK A,BARATTI D,et al.Multi-institutional study of peritoneal sarcomatos is from uterine sarcoma treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy［J］.Eur J Surg Oncol，2017，43(11):2170-2177.
［23］HONG DS，BAUER TM，LEE JJ，et al.Larotrectinib in adult patients with solid tumours：a multi-centre，open-label，phase I dose-escalation study［J］.Ann Oncol，2019，30(2):325-331.
［24］LAETSCH TW，DUBOIS SG，MASCARENHAS L，et al.Larotrectinib for paediatric solid tumours harbouring NTRK gene fusions：phase 1 results from a multicentre，open-label，phase 1/2 study［J］.Lancet Oncol，2018，19(5):705-714.

Memo

Memo:
湖南省卫生健康委一般指导课题（编号：202201044195）
Last Update: 2023-04-28