#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#
CS
proLékaře.cz / Journals / Czecho-Slovak Pathology / 2024 - 1

Mesenchymal skin tumors – Novel entities in the 5th edition of WHO classification of skin tumors

Czech version

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

The section on mesenchymal tumors in 5th edition of WHO classification of skin tumors has undergone several changes, the most important of which, as usual, 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. In addition, EWSR1::SMAD3-rearranged fibroblastic tumors, superficial CD34-positive fibroblastic tumors, and NTRK-rearranged spindle cell neoplasms were newly included. Of the other changes, only the most important ones will be briefly mentioned

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.
Labels
Anatomical pathology Forensic medical examiner Toxicology
Editorial
Interview
Monitor
Histopathology of skin melanocytic lesions
Clinical, Morphological and Molecular Features of Spitz tumors
Changes in the diagnosis of thyroid tumours in the 5th edition of the WHO classification of endocrine neoplasms
Changes in thyroid cytology reporting in the 3rd edition of the Bethesda system
Parathyroid tumors in the 5th edition of the WHO Classification of Tumors of the Endocrine Organs
Article was published in

Czecho-Slovak Pathology

Issue 1
2024 Issue 1
Most read in this issue
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#