Update on cutaneous mesenchymal tumors in the 5th edition of WHO classification of skin tumors with an emphasis on new fusion-associated neoplasms
Jazyk angličtina Země Německo Médium print-electronic
Typ dokumentu časopisecké články, přehledy
Grantová podpora
SVV 260652
Ministerstvo Školství, Mládeže a Tělovýchovy
Surg
Cooperatio program
PubMed
39264472
PubMed Central
PMC11564315
DOI
10.1007/s00428-024-03925-2
PII: 10.1007/s00428-024-03925-2
Knihovny.cz E-zdroje
- Klíčová slova
- ACTIN::MITF, CRTC1::TRIM11 cutaneous tumor, EWSR1::SMAD3-rearranged fibroblastic tumor, MITF pathway–activated melanocytic tumors, MITF::CREM fusion, NTRK-rearranged spindle cell neoplasm, Superficial CD34+ fibroblastic tumor,
- MeSH
- fúzní onkogenní proteiny genetika MeSH
- lidé MeSH
- nádory kůže * genetika patologie klasifikace MeSH
- Světová zdravotnická organizace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- fúzní onkogenní proteiny MeSH
The section on mesenchymal tumors in the 5th edition of WHO classification of skin tumors has undergone several changes, the most important of which is the inclusion of newly identified tumor entities, which will be the main focus of this review article. These specifically include three novel cutaneous mesenchymal tumors with melanocytic differentiation, and rearrangements of the CRTC1::TRIM11, ACTIN::MITF, and MITF::CREM genes as well as EWSR1::SMAD3-rearranged fibroblastic tumors, superficial CD34-positive fibroblastic tumors, and NTRK-rearranged spindle cell neoplasms. Some of the other most important changes will be briefly mentioned as well.
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Alexandrescu S, Imamovic-Tuco A, Janeway K, Hanna J (2023) Clear cell tumor with melanocytic differentiation and MITF::CREM translocation. J Cutan Pathol 50:619–622. 10.1111/cup.14427 PubMed
Cellier L, Perron E, Pissaloux D, Karanian M, Haddad V, Alberti L, de la Fouchardiere A (2018) Cutaneous melanocytoma with CRTC1-TRIM11 fusion: report of 5 cases resembling clear cell sarcoma. Am J Surg Pathol 42:382–391. 10.1097/PAS.0000000000000996 PubMed
de la Fouchardiere A, Pissaloux D, Tirode F, Hanna J (2021) Clear cell tumor with melanocytic differentiation and MITF-CREM translocation: a novel entity similar to clear cell sarcoma. Virchows Arch 479:841–846. 10.1007/s00428-021-03027-3 PubMed
de la Fouchardiere A, Pissaloux D, Tirode F, Karanian M, Fletcher CDM, Hanna J (2021) Clear cell tumor with melanocytic differentiation and ACTIN-MITF translocation: report of 7 cases of a novel entity. Am J Surg Pathol 45:962–968. 10.1097/PAS.0000000000001630 PubMed
Hanna J, Ko JS, Billings SD, Boivin F, Beaudoux O, Pissaloux D, Tirode F, Laga A, Fletcher CDM, de la Fouchardiere A (2022) Cutaneous melanocytic tumor with CRTC1::TRIM11 translocation: an emerging entity analyzed in a series of 41 cases. Am J Surg Pathol 46:1457–1466. 10.1097/PAS.0000000000001952 PubMed
Kalmykova A, Mosaieby E, Kacerovska D, Baranovska-Andrigo V, Martinek P, Smahova S, Michal M, Michal M (2023) MITF::CREM-rearranged tumor: a novel group of cutaneous tumors with melanocytic differentiation. Virchows Arch. 10.1007/s00428-023-03621-7 PubMed
Ko JS, Wang L, Billings SD, Pissaloux D, Tirode F, Berry R, De La Fouchardiere A (2019) CRTC1-TRIM11 fusion defined melanocytic tumors: a series of four cases. J Cutan Pathol 46:810–818. 10.1111/cup.13533 PubMed
Yang L, Yin Z, Wei J, Chai J, Zhao D, Liu Y, Tang Y, Cheng H, Zhe W, Fan L (2023) Cutaneous melanocytic tumour with CRTC1::TRIM11 fusion in a case with recurrent local lymph node and distant pulmonary metastases at early stage: aggressive rather than indolent? Histopathology 82:368–371. 10.1111/his.14812 PubMed
Fischer GM, Papke DJ Jr (2023) Gene fusions in superficial mesenchymal neoplasms: emerging entities and useful diagnostic adjuncts. Semin Diagn Pathol 40:246–257. 10.1053/j.semdp.2023.04.014 PubMed
Bertolotto C, Abbe P, Hemesath TJ, Bille K, Fisher DE, Ortonne JP, Ballotti R (1998) Microphthalmia gene product as a signal transducer in cAMP-induced differentiation of melanocytes. J Cell Biol 142:827–835. 10.1083/jcb.142.3.827 PubMed PMC
Price ER, Fisher DE (2001) Sensorineural deafness and pigmentation genes: melanocytes and the Mitf transcriptional network. Neuron 30:15–18. 10.1016/s0896-6273(01)00259-8 PubMed
Ko JS, Lemahieu J, Billings SD, Tirode F, Payton D, Boone B, Pissaloux D, de la Fouchardiere A (2024) MED15::ATF1-rearranged tumor: a novel cutaneous tumor with melanocytic differentiation. Mod Pathol 37:100438. 10.1016/j.modpat.2024.100438 PubMed
Fusumae T, Kamiya K, Maekawa T, Komine M, Murata S, Ohtsuki M (2018) Clear cell sarcoma with intraepidermal nests requiring the differential diagnosis of malignant melanoma. J Dermatol 45:115–116. 10.1111/1346-8138.13780 PubMed
Kiuru M, Hameed M, Busam KJ (2013) Compound clear cell sarcoma misdiagnosed as a Spitz nevus. J Cutan Pathol 40:950–954. 10.1111/cup.12197 PubMed
Luzar B, Billings SD, de la Fouchardiere A, Pissaloux D, Alberti L, Calonje E (2020) Compound Clear cell sarcoma of the skin-a potential diagnostic pitfall: report of a series of 4 new cases and a review of the literature. Am J Surg Pathol 44:21–29. 10.1097/PAS.0000000000001404 PubMed
Kasago IS, Chatila WK, Lezcano CM, Febres-Aldana CA, Schultz N, Vanderbilt C, Dogan S, Bartlett EK, D’Angelo SP, Tap WD, Singer S, Ladanyi M, Shoushtari AN, Busam KJ, Hameed M (2023) Undifferentiated and dedifferentiated metastatic melanomas masquerading as soft tissue sarcomas: mutational signature analysis and immunotherapy response. Mod Pathol 36:100165. 10.1016/j.modpat.2023.100165 PubMed PMC
Bontoux C, Baroudjian B, Le Maignan C, Vercellino L, Farges C, Guillemot D, Pierron G, Lebbe C, Battistella M (2019) CRTC1-TRIM11 fusion in a case of metastatic clear cell sarcoma: are CRTC1-TRIM11 fusion-bearing tumors melanocytomas or clear cell sarcomas? Am J Surg Pathol 43:861–863. 10.1097/PAS.0000000000001217 PubMed
Tseng C, Hein ECK, Smith SM, King I, Saibil S, Saeed Kamil Z (2024) Ulcerated CRTC1::TRIM11 cutaneous tumor with metastases. J Cutan Pathol. 10.1111/cup.14669 PubMed
Vest BE, Berrebi KG, Stone MS, Sargen MR, Gerami P (2024) CRTC1::TRIM11 cutaneous tumor: an update with local recurrence and lung metastasis in a pediatric patient. J Cutan Pathol 51:181–183. 10.1111/cup.14556 PubMed PMC
Hanna J, Russell-Goldman E, Baranov E, Pissaloux D, Li YY, Tirode F, de la Fouchardiere A, Fletcher CDM (2024) PEComa with MITF overexpression: clinicopathologic and molecular analysis of a series of 36 cases. Am J Surg Pathol. 10.1097/PAS.0000000000002276 PubMed
De Noon S, Flanagan AM, Tirabosco R, O’Donnell P, Amary F (2021) EWSR1-SMAD3 fibroblastic tumour of bone: expanding the clinical spectrum. Skeletal Radiol 50:445–450. 10.1007/s00256-020-03563-0 PubMed
Habeeb O, Korty KE, Azzato EM, Astbury C, Farkas DH, Ko JS, Billings SD (2021) EWSR1-SMAD3 rearranged fibroblastic tumor: case series and review. J Cutan Pathol 48:255–262. 10.1111/cup.13870 PubMed
Kao YC, Flucke U, Eijkelenboom A, Zhang L, Sung YS, Suurmeijer AJH, Antonescu CR (2018) Novel EWSR1-SMAD3 gene fusions in a group of acral fibroblastic spindle cell neoplasms. Am J Surg Pathol 42:522–528. 10.1097/PAS.0000000000001002 PubMed PMC
Michal M, Berry RS, Rubin BP, Kilpatrick SE, Agaimy A, Kazakov DV, Steiner P, Ptakova N, Martinek P, Hadravsky L, Michalova K, Szep Z, Michal M (2018) EWSR1-SMAD3-rearranged fibroblastic tumor: an emerging entity in an increasingly more complex group of fibroblastic/myofibroblastic neoplasms. Am J Surg Pathol 42:1325–1333. 10.1097/PAS.0000000000001109 PubMed
Friedman BJ (2021) Pitfall regarding expression of ETS-related gene (ERG) in fibrohistiocytic neoplasms. J Cutan Pathol 48:1003–1004. 10.1111/cup.14024 PubMed
Anderson WJ, Mertens F, Marino-Enriquez A, Hornick JL, Fletcher CDM (2022) Superficial CD34-positive fibroblastic tumor: a clinicopathologic, immunohistochemical, and molecular study of 59 cases. Am J Surg Pathol 46:1329–1339. 10.1097/PAS.0000000000001927 PubMed
Carter JM, Weiss SW, Linos K, DiCaudo DJ, Folpe AL (2014) Superficial CD34-positive fibroblastic tumor: report of 18 cases of a distinctive low-grade mesenchymal neoplasm of intermediate (borderline) malignancy. Mod Pathol 27:294–302. 10.1038/modpathol.2013.139 PubMed
Lao IW, Yu L, Wang J (2017) Superficial CD34-positive fibroblastic tumour: a clinicopathological and immunohistochemical study of an additional series. Histopathology 70:394–401. 10.1111/his.13088 PubMed
Perret R, Michal M, Carr RA, Velasco V, Svajdler M, Karanian M, Meurgey A, Paindavoine S, Soubeyran I, Coindre JM, Boidot R, Charon-Barra C, Geneste D, Weingertner N, Pissaloux D, Tirode F, Baud J, Le Loarer F (2021) Superficial CD34-positive fibroblastic tumor and PRDM10-rearranged soft tissue tumor are overlapping entities: a comprehensive study of 20 cases. Histopathology 79:810–825. 10.1111/his.14429 PubMed
Puls F, Carter JM, Pillay N, McCulloch TA, Sumathi VP, Rissler P, Fagman H, Hansson M, Amary F, Tirabosco R, Magnusson L, Nilsson J, Flanagan AM, Folpe AL, Mertens F (2022) Overlapping morphological, immunohistochemical and genetic features of superficial CD34-positive fibroblastic tumor and PRDM10-rearranged soft tissue tumor. Mod Pathol 35:767–776. 10.1038/s41379-021-00991-8 PubMed
Wakefield CB, Mertens F, Fletcher CDM, Anderson WJ (2024) Clinicopathologic and molecular study of superficial CD34-positive fibroblastic tumours mimicking atypical fibrous histiocytoma (dermatofibroma). Histopathology. 10.1111/his.15282 PubMed
Davis JL, Al-Ibraheemi A, Rudzinski ER, Surrey LF (2022) Mesenchymal neoplasms with NTRK and other kinase gene alterations. Histopathology 80:4–18. 10.1111/his.14443 PubMed
Knezevich SR, Garnett MJ, Pysher TJ, Beckwith JB, Grundy PE, Sorensen PH (1998) ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. Cancer Res 58:5046–5048 PubMed
Rubin BP, Chen CJ, Morgan TW, Xiao S, Grier HE, Kozakewich HP, Perez-Atayde AR, Fletcher JA (1998) Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma. Am J Pathol 153:1451–1458. 10.1016/S0002-9440(10)65732-X PubMed PMC
Church AJ, Calicchio ML, Nardi V, Skalova A, Pinto A, Dillon DA, Gomez-Fernandez CR, Manoj N, Haimes JD, Stahl JA, Dela Cruz FS, Tannenbaum-Dvir S, Glade-Bender JL, Kung AL, DuBois SG, Kozakewich HP, Janeway KA, Perez-Atayde AR, Harris MH (2018) Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy. Mod Pathol 31:463–473. 10.1038/modpathol.2017.127 PubMed
Flucke U, van Noesel MM, Wijnen M, Zhang L, Chen CL, Sung YS, Antonescu CR (2017) TFG-MET fusion in an infantile spindle cell sarcoma with neural features. Genes Chromosomes Cancer 56:663–667. 10.1002/gcc.22470 PubMed PMC
Kao YC, Fletcher CDM, Alaggio R, Wexler L, Zhang L, Sung YS, Orhan D, Chang WC, Swanson D, Dickson BC, Antonescu CR (2018) Recurrent BRAF gene fusions in a subset of pediatric spindle cell sarcomas: expanding the genetic spectrum of tumors with overlapping features with infantile fibrosarcoma. Am J Surg Pathol 42:28–38. 10.1097/PAS.0000000000000938 PubMed PMC
Tan SY, Al-Ibraheemi A, Ahrens WA, Oesterheld JE, Fanburg-Smith JC, Liu YJ, Spunt SL, Rudzinski ER, Coffin C, Davis JL (2022) ALK rearrangements in infantile fibrosarcoma-like spindle cell tumours of soft tissue and kidney. Histopathology 80:698–707. 10.1111/his.14603 PubMed
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. 10.1002/path.6260 PubMed
Tauziede-Espariat A, Duchesne M, Baud J, Le Quang M, Bochaton D, Azmani R, Croce S, Hostein I, Kesrouani C, Guillemot D, Pierron G, Bourdeaut F, Cardoen L, Hasty L, Lechapt E, Metais A, Chretien F, Puget S, Varlet P, Le Loarer F (2023) NTRK-rearranged spindle cell neoplasms are ubiquitous tumours of myofibroblastic lineage with a distinct methylation class. Histopathology 82:596–607. 10.1111/his.14842 PubMed PMC
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. 10.1002/gcc.22846 PubMed PMC
Kallen ME, Hornick JL (2021) The 2020 WHO classification: what’s new in soft tissue tumor pathology? Am J Surg Pathol 45:e1–e23. 10.1097/PAS.0000000000001552 PubMed
Agaram NP, Zhang L, Sung YS, Chen CL, Chung CT, Antonescu CR, Fletcher CD (2016) Recurrent NTRK1 gene fusions define a novel subset of locally aggressive lipofibromatosis-like neural tumors. Am J Surg Pathol 40:1407–1416. 10.1097/PAS.0000000000000675 PubMed PMC
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. 10.1002/gcc.22671 PubMed PMC
Suurmeijer AJH, Kao YC, Antonescu CR (2019) New advances in the molecular classification of pediatric mesenchymal tumors. Genes Chromosomes Cancer 58:100–110. 10.1002/gcc.22681 PubMed PMC
Haller F, Knopf J, Ackermann A, Bieg M, Kleinheinz K, Schlesner M, Moskalev EA, Will R, Satir AA, Abdelmagid IE, Giedl J, Carbon R, Rompel O, Hartmann A, Wiemann S, Metzler M, Agaimy A (2016) Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern. J Pathol 238:700–710. 10.1002/path.4701 PubMed
Davis JL, Lockwood CM, Stohr B, Boecking C, Al-Ibraheemi A, DuBois SG, Vargas SO, Black JO, Cox MC, Luquette M, Turpin B, Szabo S, Laetsch TW, Albert CM, Parham DM, Hawkins DS, Rudzinski ER (2019) Expanding the spectrum of pediatric NTRK-rearranged mesenchymal tumors. Am J Surg Pathol 43:435–445. 10.1097/PAS.0000000000001203 PubMed
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. 10.1016/j.modpat.2022.100083 PubMed PMC
Hung YP, Fletcher CDM, Hornick JL (2018) Evaluation of pan-TRK immunohistochemistry in infantile fibrosarcoma, lipofibromatosis-like neural tumour and histological mimics. Histopathology 73:634–644. 10.1111/his.13666 PubMed
Rudzinski ER, Lockwood CM, Stohr BA, Vargas SO, Sheridan R, Black JO, Rajaram V, Laetsch TW, Davis JL (2018) Pan-Trk immunohistochemistry identifies NTRK rearrangements in pediatric mesenchymal tumors. Am J Surg Pathol 42:927–935. 10.1097/PAS.0000000000001062 PubMed
Solomon JP, Benayed R, Hechtman JF, Ladanyi M (2019) Identifying patients with NTRK fusion cancer. Ann Oncol 30 Suppl 8:viii16–viii22. 10.1093/annonc/mdz384 PubMed
Solomon JP, Linkov I, Rosado A, Mullaney K, Rosen EY, Frosina D, Jungbluth AA, Zehir A, Benayed R, Drilon A, Hyman DM, Ladanyi M, Sireci AN, Hechtman JF (2020) NTRK fusion detection across multiple assays and 33,997 cases: diagnostic implications and pitfalls. Mod Pathol 33:38–46. 10.1038/s41379-019-0324-7 PubMed PMC
Agaimy A, Perret R, Demicco EG, Gross J, Liu YJ, Azmani R, Engelmann C, Schubart C, Seppet J, Stoehr R, Le Loarer F, Dickson BC (2023) GAB1::ABL1 fusions define a distinctive soft tissue neoplasm, with variable perineurial differentiation, and a predilection for children and young adults. Genes Chromosomes Cancer 62:449–459. 10.1002/gcc.23131 PubMed
Antonescu CR, Dickson BC, Swanson D, Zhang L, Sung YS, Kao YC, Chang WC, Ran L, Pappo A, Bahrami A, Chi P, Fletcher CD (2019) Spindle cell tumors with RET gene fusions exhibit a morphologic spectrum akin to tumors with NTRK gene fusions. Am J Surg Pathol 43:1384–1391. 10.1097/PAS.0000000000001297 PubMed PMC
Choo F, Rakheja D, Davis LE, Davare M, Park JY, Timmons CF, Neff T, Beadling C, Corless CL, Davis JL (2021) GAB1-ABL1 fusions in tumors that have histologic overlap with NTRK-rearranged spindle cell tumors. Genes Chromosomes Cancer 60:623–630. 10.1002/gcc.22972 PubMed
Davis JL, Vargas SO, Rudzinski ER, Lopez Marti JM, Janeway K, Forrest S, Winsnes K, Pinto N, Yang SE, VanSandt M, Boyd TK, Corless CL, Liu YJ, Surrey LF, Harris MH, Church A, Al-Ibraheemi A (2020) Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms. Histopathology 76:1032–1041. 10.1111/his.14082 PubMed
Dermawan JK, Azzato EM, Goldblum JR, Rubin BP, Billings SD, Ko JS (2021) Superficial ALK-rearranged myxoid spindle cell neoplasm: a cutaneous soft tissue tumor with distinctive morphology and immunophenotypic profile. Mod Pathol 34:1710–1718. 10.1038/s41379-021-00830-w PubMed
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. 10.1002/gcc.22758 PubMed
Michal M, Ud Din N, Svajdler M, Klubickova N, Ptakova N, Hajkova V, Michal M, Agaimy A (2023) TFG::MET-rearranged soft tissue tumor: a rare infantile neoplasm with a distinct low-grade triphasic morphology. Genes Chromosomes Cancer 62:290–296. 10.1002/gcc.23111 PubMed
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. 10.1038/s41379-021-00806-w PubMed
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. 10.1038/s41467-018-04650-6 PubMed PMC
Kao YC, Suurmeijer AJH, Argani P, Dickson BC, Zhang L, Sung YS, Agaram NP, Fletcher CDM, Antonescu CR (2020) Soft tissue tumors characterized by a wide spectrum of kinase fusions share a lipofibromatosis-like neural tumor pattern. Genes Chromosomes Cancer 59:575–583. 10.1002/gcc.22877 PubMed PMC
Kraft S, Fletcher CD (2011) Atypical intradermal smooth muscle neoplasms: clinicopathologic analysis of 84 cases and a reappraisal of cutaneous “leiomyosarcoma.” Am J Surg Pathol 35:599–607. 10.1097/PAS.0b013e31820e6093 PubMed
Massi D, Franchi A, Alos L, Cook M, Di Palma S, Enguita AB, Ferrara G, Kazakov DV, Mentzel T, Michal M, Panelos J, Rodriguez-Peralto JL, Santucci M, Tragni G, Zioga A, Dei Tos A (2010) Primary cutaneous leiomyosarcoma: clinicopathological analysis of 36 cases. Histopathology 56:251–262. 10.1111/j.1365-2559.2009.03471.x PubMed
Bresler SC, Gosnell HL, Ko JS, Angeles CV, Ronen S, Billings SD, Patel RM (2023) Subcutaneous leiomyosarcoma: an aggressive malignancy portending a significant risk of metastasis and death. Am J Surg Pathol. 10.1097/PAS.0000000000002126 PubMed
Wang WL, Bones-Valentin RA, Prieto VG, Pollock RE, Lev DC, Lazar AJ (2012) Sarcoma metastases to the skin: a clinicopathologic study of 65 patients. Cancer 118:2900–2904. 10.1002/cncr.26590 PubMed
Beck EM, Bauman TM, Rosman IS (2018) A tale of two clones: Caldesmon staining in the differentiation of cutaneous spindle cell neoplasms. J Cutan Pathol 45:581–587. 10.1111/cup.13259 PubMed
Campbell K, Bridge JA, DiMaio D, Wilson J, Shalin SC, Gardner JM (2022) Dermatofibrosarcoma protuberans with platelet-derived growth factor-D rearrangement; two cases with morphologically distinct presentations. J Cutan Pathol 49:274–277. 10.1111/cup.14148 PubMed
Chen Y, Shi YZ, Feng XH, Wang XT, He XL, Zhao M (2021) Novel TNC-PDGFD fusion in fibrosarcomatous dermatofibrosarcoma protuberans: a case report. Diagn Pathol 16:63. 10.1186/s13000-021-01123-1 PubMed PMC
Dadone-Montaudie B, Alberti L, Duc A, Delespaul L, Lesluyes T, Perot G, Lancon A, Paindavoine S, Di Mauro I, Blay JY, de la Fouchardiere A, Chibon F, Karanian M, MacGrogan G, Kubiniek V, Keslair F, Cardot-Leccia N, Michot A, Perrin V, Zekri Y, Coindre JM, Tirode F, Pedeutour F, Ranchere-Vince D, Le Loarer F, Pissaloux D (2018) Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions. Mod Pathol 31:1683–1693. 10.1038/s41379-018-0089-4 PubMed
Dickson BC, Hornick JL, Fletcher CDM, Demicco EG, Howarth DJ, Swanson D, Zhang L, Sung YS, Antonescu CR (2018) Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and apparent predilection for breast. Genes Chromosomes Cancer 57:437–445. 10.1002/gcc.22663 PubMed PMC
Lee PH, Huang SC, Wu PS, Tai HC, Lee CH, Lee JC, Kao YC, Tsai JW, Hsieh TH, Li CF, Li WS, Liu TT, Su YL, Yu SC, Huang HY (2022) Molecular characterization of dermatofibrosarcoma protuberans: the clinicopathologic significance of uncommon fusion gene rearrangements and their diagnostic importance in the exclusively subcutaneous and circumscribed lesions. Am J Surg Pathol 46:942–955. 10.1097/PAS.0000000000001866 PubMed
Perry KD, Al-Lbraheemi A, Rubin BP, Jen J, Ren H, Jang JS, Nair A, Davila J, Pambuccian S, Horvai A, Sukov W, Tazelaar HD, Folpe AL (2017) Composite hemangioendothelioma with neuroendocrine marker expression: an aggressive variant. Mod Pathol 30:1512. 10.1038/modpathol.2017.116 PubMed
Dermawan JK, Westra WH, Antonescu CR (2022) Recurrent PTBP1::MAML2 fusions in composite hemangioendothelioma with neuroendocrine differentiation: a report of two cases involving neck lymph nodes. Genes Chromosomes Cancer 61:187–193. 10.1002/gcc.23017 PubMed PMC
Linos K, Dermawan JK, Pulitzer M, Hameed M, Agaram NP, Agaimy A, Antonescu CR (2024) Untying the Gordian knot of composite hemangioendothelioma: discovery of novel fusions. Genes Chromosomes Cancer 63:e23198. 10.1002/gcc.23198 PubMed PMC
Antonescu CR, Dickson BC, Sung YS, Zhang L, Suurmeijer AJH, Stenzinger A, Mechtersheimer G, Fletcher CDM (2020) Recurrent YAP1 and MAML2 gene rearrangements in retiform and composite hemangioendothelioma. Am J Surg Pathol 44:1677–1684. 10.1097/PAS.0000000000001575 PubMed PMC