S100 and CD34 positive spindle cell tumors of the uterine cervix with EGFR mutation: a hitherto unrecognized neoplasm phenotypically and epigenetically overlapping with “NTRK-rearranged spindle cell neoplasms” of the uterus

Davis JL, Al-Ibraheemi A, Rudzinski ER, Surrey LF (2022) Mesenchymal neoplasms with NTRK and other kinase gene alterations. Histopathology 80:4–18

Article  PubMed  Google Scholar 

Suurmeijer AJH, Dickson BC, Swanson D, Zhang L, Sung YS, Cotzia P, Fletcher CDM, Antonescu CR (2018) A novel group of spindle cell tumors defined by S100 and CD34 co-expression shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes. Genes Chromosomes Cancer 57:611–621

Article  PubMed  PubMed Central  CAS  Google Scholar 

Michal M, Ptakova N, Martinek P, Gatalica Z, Kazakov DV, Michalova K, Stolarikova L, Svajdler M, Michal M (2019) S100 and CD34 positive spindle cell tumor with prominent perivascular hyalinization and a novel NCOA4-RET fusion. Genes Chromosomes Cancer 58:680–685

Article  PubMed  CAS  Google Scholar 

Suurmeijer AJ, Dickson BC, Swanson D, Zhang L, Sung YS, Huang HY, Fletcher CD, Antonescu CR (2019) The histologic spectrum of soft tissue spindle cell tumors with NTRK3 gene rearrangements. Genes Chromosomes Cancer 58:739–746

Article  PubMed  PubMed Central  CAS  Google Scholar 

Klubickova N, Dermawan JK, Mosaieby E, Martinek P, Vanecek T, Hajkova V, Ptakova N, Grossmann P, Steiner P, Svajdler M, Kinkor Z, Michalova K, Szepe P, Plank L, Hederova S, Kolenova A, Spasov NJ, Kosemehmetoglu K, Pazanin L, Spurkova Z, Banik M, Baumruk L, Meyer A, Kalmykova A, Koshyk O, Michal M, Michal M (2024) Comprehensive clinicopathological, molecular, and methylation analysis of mesenchymal tumors with NTRK and other kinase gene aberrations. J Pathol 263:61–73

Article  PubMed  CAS  Google Scholar 

Antonescu CR (2020) Emerging soft tissue tumors with kinase fusions: an overview of the recent literature with an emphasis on diagnostic criteria. Genes Chromosomes Cancer 59:437–444

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kojima N, Mori T, Motoi T, Kobayashi E, Yoshida M, Yatabe Y, Ichikawa H, Kawai A, Yonemori K, Antonescu CR, Yoshida A (2023) Frequent CD30 expression in an emerging group of mesenchymal tumors with NTRK, BRAF, RAF1, or RET fusions. Mod Pathol 36:100083

Article  PubMed  PubMed Central  Google Scholar 

Penning AJ, Al-Ibraheemi A, Michal M, Larsen BT, Cho SJ, Lockwood CM, Paulson VA, Liu YJ, Plank L, Fritchie K, Beadling C, Neff TL, Corless CL, Rudzinski ER, Davis JL (2021) Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma. Mod Pathol 34:1530–1540

Article  PubMed  CAS  Google Scholar 

Wegert J, Vokuhl C, Collord G, Del Castillo V-H, Farndon SJ, Guzzo C, Jorgensen M, Anderson J, Slater O, Duncan C, Bausenwein S, Streitenberger H, Ziegler B, Furtwangler R, Graf N, Stratton MR, Campbell PJ, Jones DT, Koelsche C, Pfister SM, Mifsud W, Sebire N, Sparber-Sauer M, Koscielniak E, Rosenwald A, Gessler M, Behjati S (2018) Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants. Nat Commun 9:2378

Article  PubMed  PubMed Central  Google Scholar 

Vallese S, Barresi S, Hiemcke-Jiwa L, et al (2024) Spindle Cell Lesions with Oncogenic EGFR Kinase Domain Aberrations: Expanding the Spectrum of Protein Kinase-Related Mesenchymal Tumors. Mod Pathol 37(9):100539. https://doi.org/10.1016/j.modpat.2024.100539

Zhao M, Yin M, Kuick CH, Chen H, Aw SJ, Merchant K, Ng EHQ, Gunaratne S, Loh AHP, Gu W, Tang H, Chang KTE (2020) Congenital mesoblastic nephroma is characterised by kinase mutations including EGFR internal tandem duplications, the ETV6-NTRK3 fusion, and the rare KLHL7-BRAF fusion. Histopathology 77:611–621

Article  PubMed  Google Scholar 

Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE (2023) EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes Chromosomes Cancer 62:17–26

Article  PubMed  CAS  Google Scholar 

Croce S, Hostein I, McCluggage WG (2021) NTRK and other recently described kinase fusion positive uterine sarcomas: a review of a group of rare neoplasms. Genes Chromosomes Cancer 60:147–159

Article  PubMed  CAS  Google Scholar 

Weisman PS, Altinok M, Carballo EV, Kushner DM, Kram JJF, Ladanyi M, Chiang S, Buehler D, Dickson Michelson EL (2020) 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 44:567–570

Article  PubMed  Google Scholar 

Chiang S, Cotzia P, Hyman DM, Drilon A, Tap WD, Zhang L, Hechtman JF, Frosina D, Jungbluth AA, Murali R, Park KJ, Soslow RA, Oliva E, Iafrate AJ, Benayed R, Ladanyi M, Antonescu CR (2018) NTRK fusions define a novel uterine sarcoma subtype with features of fibrosarcoma. Am J Surg Pathol 42:791–798

Article  PubMed  PubMed Central  Google Scholar 

Michal M, Hajkova V, Skalova A, Michal M (2019) STRN-NTRK3-rearranged mesenchymal tumor of the uterus: expanding the morphologic spectrum of tumors with NTRK fusions. Am J Surg Pathol 43:1152–1154

Article  PubMed  Google Scholar 

Costigan DC, Nucci MR, Dickson BC, Chang MC, Song S, Sholl LM, Hornick JL, Fletcher CDM, Kolin DL (2022) NTRK-rearranged uterine sarcomas: clinicopathologic features of 15 cases, literature review, and risk stratification. Am J Surg Pathol 46:1415–1429

Article  PubMed  Google Scholar 

Devereaux KA, Weiel JJ, Mills AM, Kunder CA, Longacre TA (2021) 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 45:638–652

Article  PubMed  Google Scholar 

Capper D, Jones DTW, Sill M, Hovestadt V, Schrimpf D, Sturm D, Koelsche C, Sahm F, Chavez L, Reuss DE, Kratz A, Wefers AK, Huang K, Pajtler KW, Schweizer L, Stichel D, Olar A, Engel NW, Lindenberg K, Harter PN, Braczynski AK, Plate KH, Dohmen H, Garvalov BK, Coras R, Holsken A, Hewer E, Bewerunge-Hudler M, Schick M, Fischer R, Beschorner R, Schittenhelm J, Staszewski O, Wani K, Varlet P, Pages M, Temming P, Lohmann D, Selt F, Witt H, Milde T, Witt O, Aronica E, Giangaspero F, Rushing E, Scheurlen W, Geisenberger C, Rodriguez FJ, Becker A, Preusser M, Haberler C, Bjerkvig R, Cryan J, Farrell M, Deckert M, Hench J, Frank S, Serrano J, Kannan K, Tsirigos A, Bruck W, Hofer S, Brehmer S, Seiz-Rosenhagen M, Hanggi D, Hans V, Rozsnoki S, Hansford JR, Kohlhof P, Kristensen BW, Lechner M, Lopes B, Mawrin C, Ketter R, Kulozik A, Khatib Z, Heppner F, Koch A, Jouvet A, Keohane C, Muhleisen H, Mueller W, Pohl U, Prinz M, Benner A, Zapatka M, Gottardo NG, Driever PH, Kramm CM, Muller HL, Rutkowski S, von Hoff K, Fruhwald MC, Gnekow A, Fleischhack G, Tippelt S, Calaminus G, Monoranu CM, Perry A, Jones C, Jacques TS, Radlwimmer B, Gessi M, Pietsch T, Schramm J, Schackert G, Westphal M, Reifenberger G, Wesseling P, Weller M, Collins VP, Blumcke I, Bendszus M, Debus J, Huang A, Jabado N, Northcott PA, Paulus W, Gajjar A, Robinson GW, Taylor MD, Jaunmuktane Z, Ryzhova M, Platten M, Unterberg A, Wick W, Karajannis MA, Mittelbronn M, Acker T, Hartmann C, Aldape K, Schuller U, Buslei R, Lichter P, Kool M, Herold-Mende C, Ellison DW, Hasselblatt M, Snuderl M, Brandner S, Korshunov A, von Deimling A, Pfister SM (2018) DNA methylation-based classification of central nervous system tumours. Nature 555:469–474

Article  PubMed  PubMed Central  CAS  Google Scholar 

Koelsche C, Schrimpf D, Stichel D, Sill M, Sahm F, Reuss DE, Blattner M, Worst B, Heilig CE, Beck K, Horak P, Kreutzfeldt S, Paff E, Stark S, Johann P, Selt F, Ecker J, Sturm D, Pajtler KW, Reinhardt A, Wefers AK, Sievers P, Ebrahimi A, Suwala A, Fernandez-Klett F, Casalini B, Korshunov A, Hovestadt V, Kommoss FKF, Kriegsmann M, Schick M, Bewerunge-Hudler M, Milde T, Witt O, Kulozik AE, Kool M, Romero-Perez L, Grunewald TGP, Kirchner T, Wick W, Platten M, Unterberg A, Uhl M, Abdollahi A, Debus J, Lehner B, Thomas C, Hasselblatt M, Paulus W, Hartmann C, Staszewski O, Prinz M, Hench J, Frank S, Versleijen-Jonkers YMH, Weidema ME, Mentzel T, Griewank K, de Alava E, Martin JD, Gastearena MAI, Chang KT, Low SYY, Cuevas-Bourdier A, Mittelbronn M, Mynarek M, Rutkowski S, Schuller U, Mautner VF, Schittenhelm J, Serrano J, Snuderl M, Buttner R, Klingebiel T, Buslei R, Gessler M, Wesseling P, Dinjens WNM, Brandner S, Jaunmuktane Z, Lyskjaer I, Schirmacher P, Stenzinger A, Brors B, Glimm H, Heining C, Tirado OM, Sainz-Jaspeado M, Mora J, Alonso J, Del Muro XG, Moran S, Esteller M, Benhamida JK, Ladanyi M, Wardelmann E, Antonescu C, Flanagan A, Dirksen U, Hohenberger P, Baumhoer D, Hartmann W, Vokuhl C, Flucke U, Petersen I, Mechtersheimer G, Capper D, Jones DTW, Frohling S, Pfister SM, von Deimling A (2021) Sarcoma classification by DNA methylation profiling. Nat Commun 12:498

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hodgson A, Pun C, Djordjevic B, Turashvili G (2021) NTRK-rearranged cervical sarcoma: expanding the clinicopathologic spectrum. Int J Gynecol Pathol 40:73–77

Article  PubMed  CAS  Google Scholar 

Tamirat MZ, Kurppa KJ, Elenius K, Johnson MS (2021) Structural Basis for the Functional Changes by EGFR Exon 20 Insertion Mutations. Cancers (Basel) 13:1120. https://doi.org/10.3390/cancers13051120

Yasuda H, Park E, Yun CH, Sng NJ, Lucena-Araujo AR, Yeo WL, Huberman MS, Cohen DW, Nakayama S, Ishioka K, Yamaguchi N, Hanna M, Oxnard GR, Lathan CS, Moran T, Sequist LV, Chaft JE, Riely GJ, Arcila ME, Soo RA, Meyerson M, Eck MJ, Kobayashi SS, Costa DB (2013) Structural, biochemical, and clinical characterization of epidermal growth factor receptor (EGFR) exon 20 insertion mutations in lung cancer. Sci Transl Med 5:216ra177

Park JY, Cohen C, Lopez D, Ramos E, Wagenfuehr J, Rakheja D (2016) EGFR exon 20 insertion/duplication mutations characterize fibrous hamartoma of infancy. Am J Surg Pathol 40:1713–1718

Article  PubMed  Google Scholar 

Liu H, Nazmun N, Hassan S, Liu X, Yang J (2020) BRAF mutation and its inhibitors in sarcoma treatment. Cancer Med 9:4881–4896

Article  PubMed  PubMed Central  CAS  Google Scholar 

 Ueno S, Sudo T, Hirasawa A (2022) ATM: Functions of ATM Kinase and Its Relevance to Hereditary Tumors. Int J Mol Sci 23:523. https://doi.org/10.3390/ijms23010523

Agaimy A, Dermawan JK, Haller F, et al (2024) ERBB2/ ERBB3-mutated S100/ SOX10-positive unclassified highgrade uterine sarcoma: first detailed description of a novel entity. Virchows Arch. https://doi.org/10.1007/s00428-024-03908-3

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