The "Other" Uterine Mesenchymal Neoplasms: Recent Developments and Emerging Entities.


Journal

Advances in anatomic pathology
ISSN: 1533-4031
Titre abrégé: Adv Anat Pathol
Pays: United States
ID NLM: 9435676

Informations de publication

Date de publication:
16 Apr 2024
Historique:
medline: 16 4 2024
pubmed: 16 4 2024
entrez: 16 4 2024
Statut: aheadofprint

Résumé

Uterine mesenchymal neoplasms are a challenging group of tumors that often show overlapping morphologic features and immunohistochemical profiles. The increasing use of molecular testing in these tumors has enabled a better appreciation of their pathobiology, resulting in a wave of emerging neoplasms and improved characterization of ones previously considered exceptionally rare. Identification of specific molecular alterations has permitted targeted therapy options in tumors that were typically unresponsive to conventional therapies, as well as recognition that a subset can have a hereditary basis. This review will discuss the more "common" of the uncommon uterine mesenchymal neoplasms, including inflammatory myofibroblastic tumor, perivascular epithelioid cell tumor, uterine tumor resembling ovarian sex cord tumor, and embryonal rhabdomyosarcoma. This will be followed by an overview of emerging entities, including NTRK-rearranged uterine sarcoma, SMARCA4-deficient uterine sarcoma, KAT6B/A::KANSL1 fusion uterine sarcoma, and MEIS1::NCOA2/1 fusion sarcoma.

Identifiants

pubmed: 38623604
doi: 10.1097/PAP.0000000000000440
pii: 00125480-990000000-00102
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.

Déclaration de conflit d'intérêts

The authors have no funding or conflicts of interest to disclose.

Références

Rabban JT, Zaloudek CJ, Shekitka KM, et al. Inflammatory myofibroblastic tumor of the uterus: a clinicopathologic study of 6 cases emphasizing distinction from aggressive mesenchymal tumors. Am J Surg Pathol. 2005;29:1348–1355.
Parra-Herran C, Quick CM, Howitt BE, et al. Inflammatory myofibroblastic tumor of the uterus: clinical and pathologic review of 10 cases including a subset with aggressive clinical course. Am J Surg Pathol. 2015;39:157–168.
Haimes JD, Stewart CJR, Kudlow BA, et al. Uterine inflammatory myofibroblastic tumors frequently harbor ALK fusions with IGFBP5 and THBS1. Am J Surg Pathol. 2017;41:773–780.
Bennett JA, Nardi V, Rouzbahman M, et al. Inflammatory myofibroblastic tumor of the uterus: a clinicopathological, immunohistochemical, and molecular analysis of 13 cases highlighting their broad morphologic spectrum. Mod Pathol. 2017;30:1489–1503.
Pickett JL, Chou A, Andrici JA, et al. Inflammatory myofibroblastic tumors of the female genital tract are under-recognized: a low threshold for ALK immunohistochemistry is required. Am J Surg Pathol. 2017;41:1433–1442.
Devereaux KA, Kunder CA, Longacre TA. ALK-rearranged tumors are highly enriched in the STUMP subcategory of uterine tumors. Am J Surg Pathol. 2019;43:64–74.
Ladwig NR, Bean GR, Pekmezci M, et al. Uterine inflammatory myofibroblastic tumors: proposed risk stratification model using integrated clinicopathologic and molecular analysis. Am J Surg Pathol. 2023;47:157–171.
Azuno Y, Yaga K, Suehiro Y, et al. Inflammatory myoblastic tumor of the uterus and interleukin-6. Am J Obstet Gynecol. 2003;189:890–891.
Collins K, Ramalingam P, Euscher ED, et al. Uterine inflammatory myofibroblastic neoplasms with aggressive behavior, including an epithelioid inflammatory myofibroblastic sarcoma: a clinicopathologic study of 9 cases. Am J Surg Pathol. 2021;46:105–227.
Kuisma H, Jokinen V, Pasanen A, et al. Histopathologic and molecular characterization of uterine leiomyoma-like inflammatory myofibroblastic tumor: comparison to molecular subtypes of uterine leiomyoma. Am J Surg Pathol. 2022;46:1126–1136.
Devins KM, Samore W, Nielsen GP, et al. Leiomyoma-like morphology in metastatic uterine inflammatory myofibroblastic tumors. Mod Pathol. 2023;36:100143.
Zhou N, Li T, Yang L, et al. Uterine leiomyoma-like inflammatory myofibroblastic tumor without myxoid matrix or inflammatory cell infiltration: a case report of a potential diagnostic pitfall. Int J Surg Pathol. 2023:10668969231189170.
Parra-Herran C. ALK immunohistochemistry and molecular analysis in uterine inflammatory myofibroblastic tumor: proceedings of the ISGyP Companion Society Session at the 2020 USCAP Annual Meeting. Int J Gynecol Pathol. 2021;40:28–31.
Bennett JA, Croce S, Pesci A, et al. Inflammatory myofibroblastic tumor of the uterus: an immunohistochemical study of 23 cases. Am J Surg Pathol. 2020;44:1441–1449.
Schaefer IM, Hornick JL, Sholl LM, et al. Abnormal p53 and p16 staining patterns distinguish uterine leiomyosarcoma from inflammatory myofibroblastic tumour. Histopathology. 2017;70:1138–1146.
Devins KM, Ordulu Z, Croce S, et al. Malignant uterine inflammatory myofibroblastic tumors are characterized by aberrant p16 expression and frequent CDKN2A deletions. Lab Invest. 2023;103:S887–S889.
Devereaux KA, Fitzpatrick MB, Hartinger S, et al. Pregnancy-associated inflammatory myofibroblastic tumors of the uterus are clinically distinct and highly enriched for TIMP3-ALK and THBS1-ALK fusions. Am J Surg Pathol. 2020;44:970–981.
Takahashi A, Kurosawa M, Uemura M, et al. Anaplastic lymphoma kinase-negative uterine inflammatory myofibroblastic tumor containing the ETV6-NTRK3 fusion gene: a case report. J Int Med Res. 2018;46:3498–3503.
Bennett JA, Wang P, Wanjari P, et al. Uterine inflammatory myofibroblastic tumor: first report of a ROS1 fusion. Genes Chromosomes Cancer. 2021;60:822–826.
Mohammad N, Haimes JD, Mishkin S, et al. ALK is a specific diagnostic marker for inflammatory myofibroblastic tumor of the uterus. Am J Surg Pathol. 2018;42:1353–1359.
Kyi C, Friedman CF, Mueller JJ, et al. Uterine mesenchymal tumors harboring ALK fusions and response to ALK-targeted therapy. Gynecol Oncol Rep. 2021;37:100852.
Busca A, Parra-Herran C. Myxoid mesenchymal tumors of the uterus: an update on classification, definitions, and differential diagnosis. Adv Anat Pathol. 2017;24:354–361.
WHO Classification of Tumours. Female genital tumours. International Agency for Research on Cancer; 2020.
Marino-Enriquez A, Wang WL, Roy A, et al. Epithelioid inflammatory myofibroblastic sarcoma: an aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK. Am J Surg Pathol. 2011;35:135–144.
Lee JC, Li CF, Huang HY, et al. ALK oncoproteins in atypical inflammatory myofibroblastic tumours: novel RRBP1-ALK fusions in epithelioid inflammatory myofibroblastic sarcoma. J Pathol. 2017;241:316–323.
Fang H, Langstraat CL, Visscher DW, et al. Epithelioid inflammatory myofibroblastic sarcoma of the ovary with RANB2-ALK fusion: report of a case. Int J Gynecol Pathol. 2018;37:468–472.
NCCN Clinical Practice Guidelines in Oncology. Uterine Neoplasms (Version 2.2023). 2023.
Subbiah V, McMahon C, Patel S, et al. STUMP un“stumped”: anti-tumor response to anaplastic lymphoma kinase (ALK) inhibitor based targeted therapy in uterine inflammatory myofibroblastic tumor with myxoid features harboring DCTN1-ALK fusion. J Hematol Oncol. 2015;8:66.
Carballo EV, Pham TV, Turashvili G, et al. Recurrent uterine inflammatory myofibroblastic tumor previously managed as leiomyosarcoma has sustained response to alectinib. Gynecol Oncol Rep. 2022;43:101062.
Zhao T, Zhang X, Liu X, et al. Case Report: clinical response to anaplastic lymphoma kinase inhibitor-based targeted therapy in uterine inflammatory myofibroblastic tumor harboring ALK-IGFBP5 fusion. Front Oncol. 2023;13:1147974.
Saeed H, Almardini N, Jacques SM, et al. Inflammatory myofibroblastic tumour: unexpected finding on placental examination. Eur J Obstet Gynecol Reprod Biol. 2015;194:254–255.
Banet N, Ning Y, Montgomery EA. Inflammatory myofibroblastic tumor of the placenta: a report of a novel lesion in 2 patients. Int J Gynecol Pathol. 2015;34:419–423.
Schoolmeester JK, Sukov WR. ALK-rearranged inflammatory myofibroblastic tumor of the placenta, with observations on site of origin. Int J Gynecol Pathol. 2017;36:228–229.
Squires L, Matsika A, Turner J, et al. ALK-rearranged inflammatory myofibroblastic tumour of placental membranes. Pathology. 2018;50:777–779.
Ladwig NR, Schoolmeester JK, Weil L, et al. Inflammatory myofibroblastic tumor associated with the placenta: short tandem repeat genotyping confirms uterine site of origin. Am J Surg Pathol. 2018;42:807–812.
Cheek EH, Fadra N, Jackson RA, et al. Uterine inflammatory myofibroblastic tumors in pregnant women with and without involvement of the placenta: a study of 6 cases with identification of a novel TIMP3-RET fusion. Hum Pathol. 2020;97:29–39.
Schoolmeester JK, Minn K, Sukov WR, et al. Uterine inflammatory myofibroblastic tumor involving the decidua of the extraplacental membranes: report of a case with a TIMP3-ROS1 gene fusion. Hum Pathol. 2020;100:45–46.
Makhdoum S, Nardi V, Devereaux KA, et al. Inflammatory myofibroblastic tumors associated with the placenta: a series of 9 cases. Hum Pathol. 2020;106:62–73.
Schwartz C, Gundogan F, Singh K, et al. Inflammatory myofibroblastic tumor of the placenta with subsequent successful pregnancy and benign hysterectomy: a case report with 59-month follow-up. Int J Gynecol Pathol. 2023;42:315–318.
Sim A, Devouassoux-Shisheboran M, Benmoulay-Rigollot C, et al. Uterine inflammatory myofibroblastic tumor with THBS1-INSR fusion. Pathol Res Pract. 2023;246:154500.
Bennett JA, Oliva E. Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract. Genes Chromosomes Cancer. 2021;60:168–179.
Bennett JA, Braga AC, Pinto A, et al. Uterine PEComas: a morphologic, Immunohistochemicali and molecular analysis of 32 tumors. Am J Surg Pathol. 2018;42:1370–1383.
Caliskan S, Akar OS, Gun S, et al. Malignant perivascular epithelioid cell tumor (PEComa) of the uterus as part of the hereditary cancer syndrome: a case diagnosed with multiple malignancies. Turk Patoloji Derg. 2022;39:212–217.
Galera Lopez MDM, Marquez Rodas I, Agra Pujol C, et al. Simultaneous diagnosis of liver PEComa in a family with known Li-Fraumeni syndrome: a case report. Clin Sarcoma Res. 2020;10:24.
Butz H, Lovey J, Szentkereszty M, et al. Case report: a novel pathomechanism in PEComa by the loss of heterozygosity of TP53. Front Oncol. 2022;12:849004.
Vang R, Kempson RL. Perivascular epithelioid cell tumor (‘PEComa’) of the uterus: a subset of HMB-45-positive epithelioid mesenchymal neoplasms with an uncertain relationship to pure smooth muscle tumors. Am J Surg Pathol. 2002;26:1–13.
Folpe AL, Mentzel T, Lehr HA, et al. Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am J Surg Pathol. 2005;29:1558–1575.
Schoolmeester JK, Howitt BE, Hirsch MS, et al. Perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: clinicopathologic and immunohistochemical characterization of 16 cases. Am J Surg Pathol. 2014;38:176–188.
Hornick JL, Fletcher CD. Sclerosing PEComa: clinicopathologic analysis of a distinctive variant with a predilection for the retroperitoneum. Am J Surg Pathol. 2008;32:493–501.
Lim GS, Oliva E. The morphologic spectrum of uterine PEC-cell associated tumors in a patient with tuberous sclerosis. Int J Gynecol Pathol. 2011;30:121–128.
Silva EG, Deavers MT, Bodurka DC, et al. Uterine epithelioid leiomyosarcomas with clear cells: reactivity with HMB-45 and the concept of PEComa. Am J Surg Pathol. 2004;28:244–249.
Silva EG, Bodurka DC, Scouros MA, et al. A uterine leiomyosarcoma that became positive for HMB45 in the metastasis. Ann Diagn Pathol. 2005;9:43–45.
Oliva E, Wang WL, Branton P, et al. Expression of melanocytic (“PEComa”) markers in smooth muscle tumors of the uterus: an immunohistochemical analysis of 86 cases. Mod Pathol. 2006;19:191A.
Chapel DB, Nucci MR, Quade BJ, et al. Epithelioid leiomyosarcoma of the uterus: modern outcome-based appraisal of diagnostic criteria in a large institutional series. Am J Surg Pathol. 2021;46:464–475.
Selenica P, Conlon N, Gonzalez C, et al. Genomic profiling aids classification of diagnostically challenging uterine mesenchymal tumors with myomelanocytic differentiation. Am J Surg Pathol. 2020;45:77–92.
Bennett JA, Ordulu Z, Pinto A, et al. Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions. Mod Pathol. 2021;35:515–523.
Anderson WJ, Dong F, Fletcher CDM, et al. A clinicopathologic and molecular characterization of uterine sarcomas classified as malignant PEComa. Am J Surg Pathol. 2023;47:535–546.
Akumalla S, Madison R, Lin DI, et al. Characterization of clinical cases of malignant PEComa via comprehensive genomic profiling of DNA and RNA. Oncology. 2020;98:905–912.
Wagner AJ, Ravi V, Riedel RF, et al. nab-Sirolimus for patients with malignant perivascular epithelioid cell tumors. J Clin Oncol. 2021;39:3660–3670.
Agaram NP, Sung YS, Zhang L, et al. Dichotomy of genetic abnormalities in PEComas with therapeutic implications. Am J Surg Pathol. 2015;39:813–825.
Doyle LA, Nowak JA, Nathenson MJ, et al. Characteristics of mismatch repair deficiency in sarcomas. Mod Pathol. 2019;32:977–987.
Argani P, Aulmann S, Illei PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol. 2010;34:1395–1406.
Schoolmeester JK, Dao LN, Sukov WR, et al. TFE3 translocation-associated perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: morphology, immunophenotype, differential diagnosis. Am J Surg Pathol. 2015;39:394–404.
Cho HY, Chung DH, Khurana H, et al. The role of TFE3 in PEComa. Histopathology. 2008;53:236–249.
Liu F, Zhang R, Wang ZY, et al. Malignant perivascular epithelioid cell tumor (PEComa) of cervix with TFE3 gene rearrangement: a case report. Int J Clin Exp Pathol. 2014;7:6409–6414.
Hu Y, Wang L, Shi H, et al. Endometrial polyp-like perivascular epithelioid cell neoplasm associated with TFE3 translocation: report of one case. Int J Clin Exp Pathol. 2020;13:543–549.
Malinowska I, Kwiatkowski DJ, Weiss S, et al. Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction. Am J Surg Pathol. 2012;36:783–784.
Purwar R, Soni K, Shukla M, et al. TFE3-associated perivascular epithelioid cell tumor with complete response to mTOR inhibitor therapy: report of first case and literature review. World J Surg Oncol. 2022;20:62.
Boyraz B, Watkins JC, Young RH, et al. Uterine tumors resembling ovarian sex cord tumors: a clinicopathologic study of 75 cases emphasizing features predicting adverse outcome and differential diagnosis. Am J Surg Pathol. 2023;47:234–247.
O’Meara AC, Giger OT, Kurrer M, et al. Case report: recurrence of a uterine tumor resembling ovarian sex-cord tumor. Gynecol Oncol. 2009;114:140–142.
Dimitriadis GK, Wajman DS, Bidmead J, et al. Ectopic hyperprolactinaemia due to a malignant uterine tumor resembling ovarian sex cord tumors (UTROCST). Pituitary. 2020;23:641–647.
Clement PB, Scully RE. Uterine tumors resembling ovarian sex-cord tumors. A clinicopathologic analysis of fourteen cases. Am J Clin Pathol. 1976;66:512–525.
de Leval L, Lim GS, Waltregny D, et al. Diverse phenotypic profile of uterine tumors resembling ovarian sex cord tumors: an immunohistochemical study of 12 cases. Am J Surg Pathol. 2010;34:1749–1761.
Moore M, McCluggage WG. Uterine tumour resembling ovarian sex cord tumour: first report of a large series with follow-up. Histopathology. 2017;71:751–759.
Goebel EA, Hernandez Bonilla S, Dong F, et al. Uterine tumor resembling ovarian sex cord tumor (UTROSCT): a morphologic and molecular study of 26 cases confirms recurrent NCOA1-3 rearrangement. Am J Surg Pathol. 2020;44:30–42.
Bi R, Yao Q, Ji G, et al. Uterine tumor resembling ovarian sex cord tumors: 23 cases indicating molecular heterogeneity with variable biological behavior. Am J Surg Pathol. 2023;47:739–755.
Xiong SP, Luo RZ, Wang F, et al. PD-L1 expression, morphology, and molecular characteristic of a subset of aggressive uterine tumor resembling ovarian sex cord tumor and a literature review. J Ovarian Res. 2023;16:102.
Lu B, Xia Y, Chen J, et al. NCOA1/2/3 rearrangements in uterine tumor resembling ovarian sex cord tumor: a clinicopathological and molecular study of 18 cases. Hum Pathol. 2023;135:65–75.
Bennett JA, Lastra RR, Barroeta JE, et al. Uterine tumor resembling ovarian sex cord stromal tumor (UTROSCT): a series of 3 cases with extensive rhabdoid differentiation, malignant behavior, and ESR1-NCOA2 fusions. Am J Surg Pathol. 2020;44:1563–1572.
Irving JA, Carinelli S, Prat J. Uterine tumors resembling ovarian sex cord tumors are polyphenotypic neoplasms with true sex cord differentiation. Mod Pathol. 2006;19:17–24.
Krishnamurthy S, Jungbluth AA, Busam KJ, et al. Uterine tumors resembling ovarian sex-cord tumors have an immunophenotype consistent with true sex-cord differentiation. Am J Surg Pathol. 1998;22:1078–1082.
Hurrell DP, McCluggage WG. Uterine tumour resembling ovarian sex cord tumour is an immunohistochemically polyphenotypic neoplasm which exhibits coexpression of epithelial, myoid and sex cord markers. J Clin Pathol. 2007;60:1148–1154.
Croce S, de Kock L, Boshari T, et al. Uterine tumor resembling ovarian sex cord tumor (UTROSCT) commonly exhibits positivity with sex cord markers FOXL2 and SF-1 but lacks FOXL2 and DICER1 mutations. Int J Gynecol Pathol. 2016;35:301–308.
Stewart CJ, Crook M, Tan A. SF1 immunohistochemistry is useful in differentiating uterine tumours resembling sex cord-stromal tumours from potential histological mimics. Pathology. 2016;48:434–440.
Chen Z, Lan J, Chen Q, et al. A novel case of uterine tumor resembling ovarian sex-cord tumor (UTROSCT) recurrent with GREB1-NCOA2 fusion. Int J Gynaecol Obstet. 2021;152:266–268.
Dickson BC, Childs TJ, Colgan TJ, et al. Uterine tumor resembling ovarian sex cord tumor: a distinct entity characterized by recurrent NCOA2/3 gene fusions. Am J Surg Pathol. 2019;43:178–186.
Croce S, Lesluyes T, Delespaul L, et al. GREB1-CTNNB1 fusion transcript detected by RNA-sequencing in a uterine tumor resembling ovarian sex cord tumor (UTROSCT): a novel CTNNB1 rearrangement. Genes Chromosomes Cancer. 2019;58:155–163.
Lee CH, Kao YC, Lee WR, et al. Clinicopathologic characterization of GREB1-rearranged uterine sarcomas with variable sex-cord differentiation. Am J Surg Pathol. 2019;43:928–942.
Brunetti M, Panagopoulos I, Gorunova L, et al. RNA-sequencing identifies novel GREB1-NCOA2 fusion gene in a uterine sarcoma with the chromosomal translocation t(2;8)(p25;q13). Genes Chromosomes Cancer. 2018;57:176–181.
Devereaux KA, Kertowidjojo E, Natale K, et al. GTF2A1-NCOA2-associated uterine tumor resembling ovarian sex cord tumor (UTROSCT) shows focal rhabdoid morphology and aggressive behavior. Am J Surg Pathol. 2021;45:1725–1728.
Kommoss F, Kolin D, Howitt B, et al. DNA methylation based classification of rare mesenchymal tumors of the uterus identifies novel molecular classes. Lab Invest. 2023;103:S930–S931.
Chang B, Bai Q, Liang L, et al. Recurrent uterine tumors resembling ovarian sex-cord tumors with the growth regulation by estrogen in breast cancer 1-nuclear receptor coactivator 2 fusion gene: a case report and literature review. Diagn Pathol. 2020;15:110.
Ferguson SE, Gerald W, Barakat RR, et al. Clinicopathologic features of rhabdomyosarcoma of gynecologic origin in adults. Am J Surg Pathol. 2007;31:382–389.
Pinto A, Kahn RM, Rosenberg AE, et al. Uterine rhabdomyosarcoma in adults. Hum Pathol. 2018;74:122–128.
Fadare O, Bonvicino A, Martel M, et al. Pleomorphic rhabdomyosarcoma of the uterine corpus: a clinicopathologic study of 4 cases and a review of the literature. Int J Gynecol Pathol. 2010;29:122–134.
Devins KM, Young RH, Ghioni M, et al. Embryonal rhabdomyosarcoma of the uterine cervix: a clinicopathologic study of 94 cases emphasizing issues in differential diagnosis staging, and prognostic factors. Am J Surg Pathol. 2022;46:1477–1489.
Bennett JA, Ordulu Z, Young RH, et al. Embryonal rhabdomyosarcoma of the uterine corpus: a clinicopathological and molecular analysis of 21 cases highlighting a frequent association with DICER1 mutations. Mod Pathol. 2021;34:1750–1762.
Apellaniz-Ruiz M, McCluggage WG, Foulkes WD. DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing. Genes Chromosomes Cancer. 2021;60:217–233.
Daya DA, Scully RE. Sarcoma botryoides of the uterine cervix in young women: a clinicopathological study of 13 cases. Gynecol Oncol. 1988;29:290–304.
Dehner LP, Jarzembowski JA, Hill DA. Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations. Mod Pathol. 2012;25:602–614.
Yoon JY, Apellaniz-Ruiz M, Chong AL, et al. The value of DICER1 mutation analysis in “subtle” diagnostically challenging embryonal rhabdomyosarcomas of the uterine cervix. Int J Gynecol Pathol. 2021;40:435–440.
Li RF, Gupta M, McCluggage WG, et al. Embryonal rhabdomyosarcoma (botryoid type) of the uterine corpus and cervix in adult women: report of a case series and review of the literature. Am J Surg Pathol. 2013;37:344–355.
de Kock L, Yoon JY, Apellaniz-Ruiz M, et al. Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma. Mod Pathol. 2020;33:1207–1219.
Kommoss FKF, Stichel D, Mora J, et al. Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup. Mod Pathol. 2021;34:1558–1569.
Weiel JJ, Kokh D, Charville GW, et al. PAX7 is a sensitive marker of skeletal muscle differentiation in rhabdomyosarcoma and tumors with rhabdomyosarcomatous differentiation in the female genital tract. Int J Gynecol Pathol. 2022;41:235–243.
Mills AM, Karamchandani JR, Vogel H, et al. Endocervical fibroblastic malignant peripheral nerve sheath tumor (neurofibrosarcoma): report of a novel entity possibly related to endocervical CD34 fibrocytes. Am J Surg Pathol. 2011;35:404–412.
Chiang S, Cotzia P, Hyman DM, et al. NTRK fusions define a novel uterine sarcoma subtype with features of fibrosarcoma. Am J Surg Pathol. 2018;42:791–798.
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. Mod Pathol. 2019;32:1008–1022.
Devereaux KA, Weiel JJ, Mills AM, et al. Neurofibrosarcoma revisited: an institutional case series of uterine sarcomas harboring kinase-related fusions with report of a novel FGFR1-TACC1 fusion. Am J Surg Pathol. 2021;45:638–652.
Costigan DC, Nucci MR, Dickson BC, et al. NTRK-rearranged uterine sarcomas: clinicopathologic features of 15 cases literature review, and risk stratification. Am J Surg Pathol. 2022;46:1415–1429.
Goulding EA, Morreau P, De Silva M, 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. Gynecol Oncol Rep. 2021;37:100845.
Moh M, Johnson CM, Geurts J, et al. Uterine sarcoma with a novel WWOX-NTRK2 fusion in a postmenopausal woman with Li-Fraumeni–like syndrome: a case that expands the spectrum of NTRK-rearranged uterine tumors. AJSP: Reviews & Reports. 2021;26:304–306.
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. Histopathology. 2020;77:100–111.
Hodgson A, Pun C, Djordjevic B, et al. NTRK-rearranged cervical sarcoma: expanding the clinicopathologic spectrum. Int J Gynecol Pathol. 2021;40:73–77.
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. Am J Surg Pathol. 2019;43:1152–1154.
Hechtman JF, Benayed R, Hyman DM, et al. Pan-Trk immunohistochemistry is an efficient and reliable screen for the detection of NTRK fusions. Am J Surg Pathol. 2017;41:1547–1551.
Yamamoto H, Nozaki Y, Kohashi K, et al. Diagnostic utility of pan-Trk immunohistochemistry for inflammatory myofibroblastic tumours. Histopathology. 2020;76:774–778.
Aysal A, Karnezis A, Medhi I, et al. Ovarian endometrioid adenocarcinoma: incidence and clinical significance of the morphologic and immunohistochemical markers of mismatch repair protein defects and tumor microsatellite instability. Am J Surg Pathol. 2012;36:163–172.
Nilforoushan N, Wethington SL, Nonogaki H, et al. NTRK-fusion sarcoma of the uterine cervix: report of 2 cases with comparative clinicopathologic features. Int J Gynecol Pathol. 2022;41:642–648.
Mohammad N, Stewart CJR, Chiang S, et al. p53 immunohistochemical analysis of fusion-positive uterine sarcomas. Histopathology. 2021;78:805–813.
Tsai JW, Lee JC, Hsieh TH, et al. Adult NTRK-rearranged spindle cell neoplasms of the viscera: with an emphasis on rare locations and heterologous elements. Mod Pathol. 2022;35:911–921.
Weisman PS, Altinok M, Carballo EV, et al. Uterine cervical sarcoma with a novel RET-SPECC1L fusion in an adult: a case which expands the homology between RET-rearranged and NTRK-rearranged tumors Am J Surg Pathol. 2020;44:567–570.
Grindstaff SL, DiSilvestro J, Hansen K, et al. COL1A1-PDGFB fusion uterine fibrosarcoma: a case report with treatment implication. Gynecol Oncol Rep. 2020;31:100523.
Lu L, Wang S, Shen H, et al. Case report: a case of COL1A1-PDGFB fusion uterine sarcoma at cervix and insights into the clinical management of rare uterine sarcoma. Front Oncol. 2023;13:1108586.
Cocco E, Scaltriti M, Drilon A. NTRK fusion-positive cancers and TRK inhibitor therapy. Nat Rev Clin Oncol. 2018;15:731–747.
Lin DI, Allen JM, Hecht JL, et al. SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association. Mod Pathol. 2019;32:1675–1687.
Kolin DL, Quick CM, Dong F, et al. SMARCA4-deficient uterine sarcoma and undifferentiated endometrial carcinoma are distinct clinicopathologic entities. Am J Surg Pathol. 2020;44:263–270.
Kommoss FK, Tessier-Cloutier B, Witkowski L, et al. Cellular context determines DNA methylation profiles in SWI/SNF-deficient cancers of the gynecologic tract. J Pathol. 2022;257:140–145.
Connor YD, Miao D, Lin DI, et al. Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts. Gynecol Oncol. 2020;157:106–114.
Lin DI, Hemmerich A, Edgerly C, et al. Genomic profiling of BCOR-rearranged uterine sarcomas reveals novel gene fusion partners, frequent CDK4 amplification and CDKN2A loss. Gynecol Oncol. 2020;157:357–366.
Kolin DL, Dong F, Baltay M, et al. SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. Mod Pathol. 2018;31:1442–1456.
Howitt BE, Folpe AL. Update on SWI/SNF-related gynecologic mesenchymal neoplasms: SMARCA4-deficient uterine sarcoma and SMARCB1-deficient vulvar neoplasms. Genes Chromosomes Cancer. 2021;60:190–209.
Ainsworth AJ, Dashti NK, Mounajjed T, et al. Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman. Diagn Pathol. 2019;14:32.
Choi J, Manzano A, Dong W, et al. Integrated mutational landscape analysis of uterine leiomyosarcomas. Proc Natl Acad Sci U S A. 2021;118:e2025182118.
Agaimy A, Clarke BA, Kolin DL, et al. Recurrent KAT6B/A::KANSL1 fusions characterize a potentially aggressive uterine sarcoma morphologically overlapping with low-grade endometrial stromal sarcoma. Am J Surg Pathol. 2022;46:1298–1308.
Trecourt A, Azmani R, Hostein I, et al. The KAT6B::KANSL1 fusion defines a new uterine sarcoma with hybrid endometrial stromal tumor and smooth muscle tumor features. Mod Pathol. 2023;36:100243.
Argani P, Reuter VE, Kapur P, et al. Novel MEIS1-NCOA2 gene fusions define a distinct primitive spindle cell sarcoma of the kidney. Am J Surg Pathol. 2018;42:1562–1570.
Agaram NP, Zhang L, Sung YS, et al. Expanding the spectrum of intraosseous rhabdomyosarcoma: correlation between 2 distinct gene fusions and phenotype. Am J Surg Pathol. 2019;43:695–702.
Kao YC, Bennett JA, Suurmeijer AJH, et al. Recurrent MEIS1-NCOA2/1 fusions in a subset of low-grade spindle cell sarcomas frequently involving the genitourinary and gynecologic tracts. Mod Pathol. 2021;34:1203–1212.
Kommoss FKF, Kolsche C, Mentzel T, et al. Spindle cell sarcoma of the uterine corpus with adipose metaplasia: expanding the morphologic spectrum of neoplasms with MEIS1-NCOA2 gene fusion. Int J Gynecol Pathol. 2022;41:417–422.
Mejbel HA, Harada S, Stevens TM, et al. Spindle cell sarcoma of the uterus harboring MEIS1::NCOA1 fusion gene and mimicking endometrial stromal sarcoma. Int J Surg Pathol. 2023;31:227–232.
Niu S, Rivera-Colon G, Lucas E. Aggressive high-grade uterine sarcoma harboring MEIS1-NCOA2 fusion and amplification of multiple 12q13-15 genes: a case report with morphologic, immunohistochemical, and molecular analysis. Int J Gynecol Pathol. 2023;42:460–465.
Xing D, Meyer CF, Gross JM, et al. Uterine MEIS1::NCOA2 fusion sarcoma with lung metastasis: a case report and review of the literature. Int J Gynecol Pathol. 2024;43:47–55.
Cotzia P, Benayed R, Mullaney K, et al. Undifferentiated uterine sarcomas represent under-recognized high-grade endometrial stromal sarcomas. Am J Surg Pathol. 2019;43:662–669.

Auteurs

Jennifer A Bennett (JA)

Department of Pathology, University of Chicago, Chicago, IL.

Andre Pinto (A)

Department of Pathology and Laboratory Medicine, University of Miami, Miami, FL.

Classifications MeSH