Mezenchymální kožní tumory – Nové jednotky v 5. edici WHO klasifikaci nádorů kůže
Authors:
Michael Michal
Authors‘ workplace:
Bioptická laboratoř, s. r. o., Plzeň
; Šiklův ústav patologie LF UK a FN Plzeň
Published in:
Čes.-slov. Patol., 60, 2024, No. 1, p. 49-58
Category:
Reviews Article
Overview
V roce 2023 vydávaná 5. edice WHO klasifikace nádorů kůže doznala v sekci mezenchymálních nádorů několika změn, přičemž mezi nejvýznamnější, jako již tradičně, patří zařazení nově identifikovaných nádorových jednotek, kterými se tento přehledový článek bude zabývat především. Konkrétně se jedná o tři nové kožní mezenchymální tumory s melanocytární diferenciací a rearanžemi genů CRTC1::TRIM11, ACTIN::MITF a MITF::CREM. Dále byly nově zařazeny EWSR1::SMAD3- rearanžované fibroblastické tumory, superficiální CD34 pozitivní fibroblastické tumory a NTRK-rearanžované vřetenobuněčné neoplazie. Z dalších změn budou krátce zmíněny pouze ty nejvýznamnější.
Sources
- Hanna J, Ko JS, Billings SD, et al. Cutane- ous Melanocytic Tumor With CRTC1::TRIM11 Translocation : An Emerging Entity Analyzed in a Series of 41 Cases. Am J Surg Pathol 2022; 46: 1457-1466.
- Cellier L, Perron E, Pissaloux D, et al. Cuta- neous Melanocytoma With CRTC1-TRIM11 Fu- sion: Report of 5 Cases Resembling Clear Cell Sarcoma. Am J Surg Pathol 2018; 42: 382-391.
- Ko JS, Wang L, Billings SD, et al. CRTC1- TRIM11 fusion defined melanocytic tumors: A series of four cases. J Cutan Pathol 2019; 46: 810-818.
- Yang L, Yin Z, Wei J, et al. Cutaneous mela- nocytic tumour with CRTC1::TRIM11 fusion in a case with recurrent local lymph node and distant pulmonary metastases at early stage: aggressive rather than indolent? Histopathol- ogy 2023; 82: 368-371.
- de la Fouchardiere A, Pissaloux D, Tirode F, et al. Clear Cell Tumor With Melanocytic Dif- ferentiation and ACTIN-MITF Translocation: Report of 7 Cases of a Novel Entity. Am J Surg Pathol 2021; 45: 962-968.
- de la Fouchardiere A, Pissaloux D, Tirode F, Hanna J. Clear cell tumor with melanocytic differentiation and MITF-CREM translocation: a novel entity similar to clear cell sarcoma. Vir- chows Arch 2021; 479: 841-846.
- Alexandrescu S, Imamovic-Tuco A, Jane- way K, Hanna J. Clear cell tumor with mela- nocytic differentiation and MITF::CREM trans- location. J Cutan Pathol 2023; 50: 619-622.
- Kalmykova A, Mosaieby E, Kacerovska D, et al. MITF::CREM-rearranged tumor: a novel group of cutaneous tumors with melanocyt- ic differentiation. Virchows Arch 2023; 483(4):569-575.
- Fischer GM, Papke DJ, Jr. Gene fusions in su- perficial mesenchymal neoplasms: Emerging entities and useful diagnostic adjuncts. Semin Diagn Pathol 2023; 40: 246-257.
- Bertolotto C, Abbe P, Hemesath TJ, et al. Microphthalmia gene product as a signal transducer in cAMP-induced differentiation of melanocytes. J Cell Biol 1998; 142: 827-835.
- Price ER, Fisher DE. Sensorineural deafness and pigmentation genes: melanocytes and the Mitf transcriptional network. Neuron 2001; 30: 15-18.
- Kasago IS, Chatila WK, Lezcano CM, et al. Undifferentiated and Dedifferentiated Meta- static Melanomas Masquerading as Soft Tis- sue Sarcomas: Mutational Signature Analysis and Immunotherapy Response. Mod Pathol 2023; 36: 100165.
- Kao YC, Flucke U, Eijkelenboom A, et al. Novel EWSR1-SMAD3 Gene Fusions in a Group of Acral Fibroblastic Spindle Cell Neo- plasms. Am J Surg Pathol 2018; 42: 522-528.
- Michal M, Berry RS, Rubin BP, et al. EWSR1-SMAD3-rearranged Fibroblastic Tu- mor: An Emerging Entity in an Increasingly More Complex Group of Fibroblastic/Myofi- broblastic Neoplasms. Am J Surg Pathol 2018; 42: 1325-1333.
- Habeeb O, Korty KE, Azzato EM, et al. EWSR1-SMAD3 rearranged fibroblastic tu- mor: Case series and review. J Cutan Pathol 2021; 48: 255-262.
- Friedman BJ. Pitfall regarding expression of ETS-related gene (ERG) in fibrohistiocytic neoplasms. J Cutan Pathol 2021; 48: 1003-1004.
- Perret R, Michal M, Carr RA, et al. Super- ficial CD34-positive fibroblastic tumor and PRDM10-rearranged soft tissue tumor are overlapping entities: a comprehensive study of 20 cases. Histopathology 2021; 79: 810-825.
- Carter JM, Weiss SW, Linos K, DiCaudo DJ, Folpe AL. Superficial CD34-positive fibroblas- tic tumor: report of 18 cases of a distinctive low-grade mesenchymal neoplasm of inter- mediate (borderline) malignancy. Mod Pathol 2014; 27: 294-302.
- Puls F, Carter JM, Pillay N, et al. Overlapping morphological, immunohistochemical and genetic features of superficial CD34-positive fi- broblastic tumor and PRDM10-rearranged soft tissue tumor. Mod Pathol 2022; 35: 767-776.
- Anderson WJ, Mertens F, Marino-Enriquez A, Hornick JL, Fletcher CDM. Superficial CD34-Positive Fibroblastic Tumor: A Clinico- pathologic, Immunohistochemical, and Mo- lecular Study of 59 Cases. Am J Surg Pathol 2022; 46: 1329-1339.
- Lao IW, Yu L, Wang J. Superficial CD34-posi- tive fibroblastic tumour: a clinicopathological and immunohistochemical study of an addi- tional series. Histopathology 2017; 70: 394-401.
- Davis JL, Lockwood CM, Stohr B, et al. Ex- panding the Spectrum of Pediatric NTRK-re- arranged Mesenchymal Tumors. Am J Surg Pathol 2019; 43: 435-445.
- Kao YC, Fletcher CDM, Alaggio R, et al. Recurrent BRAF Gene Fusions in a Subset of Pediatric Spindle Cell Sarcomas: Expanding the Genetic Spectrum of Tumors With Over- lapping Features With Infantile Fibrosarcoma. Am J Surg Pathol 2018; 42: 28-38.
- Suurmeijer AJH, Dickson BC, Swanson D, et al. A novel group of spindle cell tumors de- fined by S100 and CD34 co-expression shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes. Genes Chromosomes Cancer 2018; 57: 611-621.
- Antonescu CR, Dickson BC, Swanson D, et al. Spindle Cell Tumors With RET Gene Fu- sions Exhibit a Morphologic Spectrum Akin to Tumors With NTRK Gene Fusions. Am J Surg Pathol 2019; 43: 1384-1391.
- Agaram NP, Zhang L, Sung YS, et al. Recurrent NTRK1 Gene Fusions Define a Novel Subset of Locally Aggressive Lipofibromatosis-like Neural Tumors. Am J Surg Pathol 2016; 40: 1407-1416.
- Penning AJ, Al-Ibraheemi A, Michal M, et al. Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarco- ma. Mod Pathol 2021; 34: 1530-1540.
- Wegert J, Vokuhl C, Collord G, et al. Recur- rent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants. Nat Commun 2018; 9: 2378.
- Michal M, Ud Din N, Svajdler M, et al. TF- G::MET-rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low-grade triphasic morphology. Genes Chromosomes Cancer 2023; 62: 290-296.
- Michal M, Ptakova N, Martinek P, et al. S100 and CD34 positive spindle cell tumor with prominent perivascular hyalinization and a novel NCOA4-RET fusion. Genes Chromo- somes Cancer 2019; 58: 680-685.
- Antonescu CR. Emerging soft tissue tumors with kinase fusions: An overview of the recent literature with an emphasis on diagnostic cri- teria. Genes Chromosomes Cancer 2020; 59: 437-444.
- Kojima N, Mori T, Motoi T, et al. Frequent CD30 Expression in an Emerging Group of Mesenchymal Tumors With NTRK, BRAF, RAF1, or RET Fusions. Mod Pathol 2023; 36: 100083.
- Hung YP, Fletcher CDM, Hornick JL. Evalu- ation of pan-TRK immunohistochemistry in infantile fibrosarcoma, lipofibromatosis-like neural tumour and histological mimics. Histo- pathology 2018; 73: 634-644.
- Rudzinski ER, Lockwood CM, Stohr BA, et al. Pan-Trk Immunohistochemistry Identifies NTRK Rearrangements in Pediatric Mesenchy- mal Tumors. Am J Surg Pathol 2018; 42: 927-935.
- Solomon JP, Linkov I, Rosado A, et al. NTRK fusion detection across multiple assays and 33,997 cases: diagnostic implications and pit- falls. Mod Pathol 2020; 33: 38-46.
- Solomon JP, Benayed R, Hechtman JF, Ladanyi M. Identifying patients with NTRK fusion cancer. Ann Oncol 2019; 30 Suppl 8: viii16-viii22.
- Kraft S, Fletcher CD. Atypical intradermal smooth muscle neoplasms: clinicopathologic analysis of 84 cases and a reappraisal of cu- taneous “leiomyosarcoma”. Am J Surg Pathol 2011; 35: 599-607.
- Massi D, Franchi A, Alos L, et al. Primary cu- taneous leiomyosarcoma: clinicopathological analysis of 36 cases. Histopathology 2010; 56:251-262.
- Bresler SC, Gosnell HL, Ko JS, et al. Sub- cutaneous Leiomyosarcoma: An Aggressive Malignancy Portending a Significant Risk of Metastasis and Death. Am J Surg Pathol 2023; 47(12): 1417-1424.
- Wang WL, Bones-Valentin RA, Prieto VG, et al. Sarcoma metastases to the skin: a clinico- pathologic study of 65 patients. Cancer 2012; 118: 2900-2904.
- Beck EM, Bauman TM, Rosman IS. A tale of two clones: Caldesmon staining in the dif- ferentiation of cutaneous spindle cell neo- plasms. J Cutan Pathol 2018; 45: 581-587.
- Dadone-Montaudie B, Alberti L, Duc A, et al. Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions. Mod Pathol 2018; 31: 1683-1693.
- Lee PH, Huang SC, Wu PS, et al. Molecular Characterization of Dermatofibrosarcoma Protuberans: The Clinicopathologic Signifi- cance of Uncommon Fusion Gene Rearrange- ments and Their Diagnostic Importance in the Exclusively Subcutaneous and Circumscribed Lesions. Am J Surg Pathol 2022; 46: 942-955.
- Dickson BC, Hornick JL, Fletcher CDM, et al. Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and ap- parent predilection for breast. Genes Chromo- somes Cancer 2018; 57: 437-445.
- Perry KD, Al-Lbraheemi A, Rubin BP, et al. Composite hemangioendothelioma with neuroendocrine marker expression: an ag- gressive variant. Mod Pathol 2017; 30: 1512.
- Dermawan JK, Westra WH, Antonescu CR. Recurrent PTBP1::MAML2 fusions in compos- ite hemangioendothelioma with neuroen- docrine differentiation: A report of two cases involving neck lymph nodes. Genes Chromo- somes Cancer 2022; 61: 187-193.
- Antonescu CR, Dickson BC, Sung YS, et al. Recurrent YAP1 and MAML2 Gene Rearrange- ments in Retiform and Composite Heman- gioendothelioma. Am J Surg Pathol 2020; 44: 1677-1684.
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