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Mezenchymální kožní tumory –⁠ Nové jednotky v 5. edici WHO klasifikaci nádorů kůže

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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
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. Price ER, Fisher DE. Sensorineural deafness and pigmentation genes: melanocytes and the Mitf transcriptional network. Neuron 2001; 30 : 15-18.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. Friedman BJ. Pitfall regarding expression of ETS-related gene (ERG) in fibrohistiocytic neoplasms. J Cutan Pathol 2021; 48 : 1003-1004.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. 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.
  22. 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.
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. 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.
  28. 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.
  29. 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.
  30. 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.
  31. 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.
  32. 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.
  33. 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.
  34. 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.
  35. 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.
  36. Solomon JP, Benayed R, Hechtman JF, Ladanyi M. Identifying patients with NTRK fusion cancer. Ann Oncol 2019; 30 Suppl 8: viii16-viii22.
  37. 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.
  38. Massi D, Franchi A, Alos L, et al. Primary cu -⁠ taneous leiomyosarcoma: clinicopathological analysis of 36 cases. Histopathology 2010; 56 : 251-262.
  39. 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.
  40. 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.
  41. 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.
  42. Dadone-Montaudie B, Alberti L, Duc A, et al. Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions. Mod Pathol 2018; 31 : 1683-1693.
  43. 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.
  44. 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.
  45. Perry KD, Al-Lbraheemi A, Rubin BP, et al. Composite hemangioendothelioma with neuroendocrine marker expression: an ag -⁠ gressive variant. Mod Pathol 2017; 30 : 1512.
  46. 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.
  47. 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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