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Head and Neck Pathology

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21.03.2022 | Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors

Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Soft Tissue Tumors

verfasst von: Vickie Y. Jo, Elizabeth G. Demicco

Erschienen in: Head and Neck Pathology | Ausgabe 1/2022

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Abstract

The fifth (5th) edition of the World Health Organization (WHO) Classification of Head and Neck Tumors introduces a new chapter dedicated to soft tissue neoplasms commonly affecting the head and neck. While the diversity, rarity, and wide anatomic range of soft tissue tumors precludes a discussion of all entities that may be found in the head and neck, the addition of this new chapter to the head and neck "blue book" aims to provide a more comprehensive and uniform reference text, including updated diagnostic criteria, of mesenchymal tumor types frequently (or exclusively) arising at head and neck sites. Since publication of the previous edition in 2017, there have been numerous advances in our understanding of the pathogenesis of many soft tissue tumors which have facilitated refinements in tumor classification, identification of novel entities, development of diagnostic markers, and improved prognostication. This review will provide a focused discussion of the soft tissue tumors included in the 5th edition WHO Head and Neck classification, with an emphasis on updates.

El-Naggar AK, Chan JK, Grandis JR, Takata T, Slootweg PJ. WHO Classification of tumours: pathology and genetics of head and neck tumours. Lyon: IARC Press; 2017.

WHO Classification of Tumours Editorial Board. Head and neck tumours. 5th ed. Lyon: International Agency for Research on Cancer; 2022.

WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. 5th ed. Lyon: International Agency for Research on Cancer; 2020.

Bianchini L, Birtwisle L, Saâda E, Bazin A, Long E, Roussel JF, et al. Identification of PPAP2B as a novel recurrent translocation partner gene of HMGA2 in lipomas. Genes Chromosomes Cancer. 2013;52(6):580–90.PubMed

Hofvander J, Arbajian E, Stenkula KG, Lindkvist-Petersson K, Larsson M, Nilsson J, et al. Frequent low-level mutations of protein kinase D2 in angiolipoma. J Pathol. 2017;241(5):578–82.PubMed

Chen BJ, Marino-Enriquez A, Fletcher CD, Hornick JL. Loss of retinoblastoma protein expression in spindle cell/pleomorphic lipomas and cytogenetically related tumors: an immunohistochemical study with diagnostic implications. Am J Surg Pathol. 2012;36(8):1119–28.PubMed

Fritchie K, Ghosh T, Graham RP, Roden AC, Schembri-Wismayer D, Folpe A, et al. Well-differentiated/dedifferentiated liposarcoma arising in the upper aerodigestive tract: 8 cases mimicking non-adipocytic lesions. Head Neck Pathol. 2020;14(4):974–81.PubMedPubMedCentral

Keung EZ, Hornick JL, Bertagnolli MM, Baldini EH, Raut CP. Predictors of outcomes in patients with primary retroperitoneal dedifferentiated liposarcoma undergoing surgery. J Am Coll Surg. 2014;218(2):206–17.PubMed

Jour G, Gullet A, Liu M, Hoch BL. Prognostic relevance of Fédération Nationale des Centres de Lutte Contre le Cancer grade and MDM2 amplification levels in dedifferentiated liposarcoma: a study of 50 cases. Mod Pathol. 2015;28(1):37–47.PubMed

10.

Gronchi A, Collini P, Miceli R, Valeri B, Renne SL, Dagrada G, et al. Myogenic differentiation and histologic grading are major prognostic determinants in retroperitoneal liposarcoma. Am J Surg Pathol. 2015;39(3):383–93.PubMed

11.

Kurzawa P, Mullen JT, Chen YL, Johnstone SE, Deshpande V, Chebib I, et al. Prognostic value of myogenic differentiation in dedifferentiated liposarcoma. Am J Surg Pathol. 2020;44(6):799–804.PubMedPubMedCentral

12.

Hostein I, Pelmus M, Aurias A, Pedeutour F, Mathoulin-Pelissier S, Coindre JM. Evaluation of MDM2 and CDK4 amplification by real-time PCR on paraffin wax-embedded material: a potential tool for the diagnosis of atypical lipomatous tumours/well-differentiated liposarcomas. J Pathol. 2004;202(1):95–102.PubMed

13.

Binh MB, Sastre-Garau X, Guillou L, de Pinieux G, Terrier P, Lagace R, et al. MDM2 and CDK4 immunostainings are useful adjuncts in diagnosing well-differentiated and dedifferentiated liposarcoma subtypes: a comparative analysis of 559 soft tissue neoplasms with genetic data. Am J Surg Pathol. 2005;29(10):1340–7.PubMed

14.

Stojanov IJ, Mariño-Enriquez A, Bahri N, Jo VY, Woo SB. Lipomas of the oral cavity: utility of MDM2 and CDK4 in avoiding overdiagnosis as atypical lipomatous tumor. Head Neck Pathol. 2019;13(2):169–76.PubMed

15.

Weaver J, Downs-Kelly E, Goldblum JR, Turner S, Kulkarni S, Tubbs RR, et al. Fluorescence in situ hybridization for MDM2 gene amplification as a diagnostic tool in lipomatous neoplasms. Mod Pathol. 2008;21(8):943–9.PubMed

16.

Panagopoulos I, Hoglund M, Mertens F, Mandahl N, Mitelman F, Aman P. Fusion of the EWS and CHOP genes in myxoid liposarcoma. Oncogene. 1996;12(3):489–94.PubMed

17.

Dal Cin P, Sciot R, Panagopoulos I, Aman P, Samson I, Mandahl N, et al. Additional evidence of a variant translocation t(12;22) with EWS/CHOP fusion in myxoid liposarcoma: clinicopathological features. J Pathol. 1997;182(4):437–41.

18.

Scapa JV, Cloutier JM, Raghavan SS, Peters-Schulze G, Varma S, Charville GW. DDIT3 immunohistochemistry is a useful tool for the diagnosis of myxoid liposarcoma. Am J Surg Pathol. 2021;45(2):230–9.PubMedPubMedCentral

19.

Baranov E, Black MA, Fletcher CDM, Charville GW, Hornick JL. Nuclear expression of DDIT3 distinguishes high-grade myxoid liposarcoma from other round cell sarcomas. Mod Pathol. 2021;34(7):1367–72.PubMed

20.

Marino-Enriquez A, Fletcher CD, Dal Cin P, Hornick JL. Dedifferentiated liposarcoma with “homologous” lipoblastic (pleomorphic liposarcoma-like) differentiation: clinicopathologic and molecular analysis of a series suggesting revised diagnostic criteria. Am J Surg Pathol. 2010;34(8):1122–31.PubMed

21.

Creytens D, van Gorp J, Savola S, Ferdinande L, Mentzel T, Libbrecht L. Atypical spindle cell lipoma: a clinicopathologic, immunohistochemical, and molecular study emphasizing its relationship to classical spindle cell lipoma. Virch Archiv. 2014;465(1):97–108.

22.

Creytens D, Mentzel T, Ferdinande L, Lecoutere E, van Gorp J, Atanesyan L, et al. “Atypical” pleomorphic lipomatous tumor: a clinicopathologic, immunohistochemical and molecular study of 21 cases, emphasizing its relationship to atypical spindle cell lipomatous tumor and suggesting a morphologic spectrum (atypical spindle cell/pleomorphic lipomatous tumor). Am J Surg Pathol. 2017;41(11):1443–55.PubMed

23.

Marino-Enriquez A, Nascimento AF, Ligon AH, Liang C, Fletcher CD. Atypical spindle cell lipomatous tumor: clinicopathologic characterization of 232 cases demonstrating a morphologic spectrum. Am J Surg Pathol. 2017;41(2):234–44.PubMed

24.

Anderson WJ, Fletcher CDM, Jo VY. Atypical pleomorphic lipomatous tumor: expanding our current understanding in a clinicopathologic analysis of 64 cases. Am J Surg Pathol. 2021;45(9):1282–92.PubMed

25.

Alaggio R, Coffin CM, Weiss SW, Bridge JA, Issakov J, Oliveira AM, et al. Liposarcomas in young patients: a study of 82 cases occurring in patients younger than 22 years of age. Am J Surg Pathol. 2009;33(5):645–58.PubMed

26.

Creytens D, Folpe AL, Koelsche C, Mentzel T, Ferdinande L, van Gorp JM, et al. Myxoid pleomorphic liposarcoma-a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma. Mod Pathol. 2021;34(11):2043–9.PubMed

27.

Hofvander J, Jo VY, Ghanei I, Gisselsson D, Mårtensson E, Mertens F. Comprehensive genetic analysis of a paediatric pleomorphic myxoid liposarcoma reveals near-haploidization and loss of the RB1 gene. Histopathology. 2016;69(1):141–7.PubMed

28.

Carlson JW, Fletcher CD. Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. Histopathology. 2007;51(4):509–14.PubMed

29.

Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Tanaka K, Takahashi H, et al. Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis. Cancer Res. 1993;53(21):5079–82.PubMed

30.

Amary MF, Pauwels P, Meulemans E, Roemen GM, Islam L, Idowu B, et al. Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool. Am J Surg Pathol. 2007;31(9):1299–309.PubMed

31.

Erickson-Johnson MR, Chou MM, Evers BR, Roth CW, Seys AR, Jin L, et al. Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. Lab Invest. 2011;91(10):1427–33.PubMed

32.

Robinson DR, Wu YM, Kalyana-Sundaram S, Cao X, Lonigro RJ, Sung YS, et al. Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. Nat Genet. 2013;45(2):180–5.PubMedPubMedCentral

33.

Mohajeri A, Tayebwa J, Collin A, Nilsson J, Magnusson L, von Steyern FV, et al. Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor. Genes Chromosomes Cancer. 2013;52(10):873–86.PubMed

34.

Doyle LA, Vivero M, Fletcher CD, Mertens F, Hornick JL. Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics. Mod Pathol. 2014;27(3):390–5.PubMed

35.

Bahrami A, Lee S, Schaefer IM, Boland JM, Patton KT, Pounds S, et al. TERT promoter mutations and prognosis in solitary fibrous tumor. Mod Pathol. 2016;29(12):1511–22.PubMedPubMedCentral

36.

Demicco EG, Wani K, Ingram D, Wagner M, Maki RG, Rizzo A, et al. TERT promoter mutations in solitary fibrous tumour. Histopathology. 2018;73(5):843–51.PubMed

37.

Demicco EG, Wagner MJ, Maki RG, Gupta V, Iofin I, Lazar AJ, et al. Risk assessment in solitary fibrous tumors: validation and refinement of a risk stratification model. Mod Pathol. 2017;30(10):1433–42.PubMed

38.

Salas S, Resseguier N, Blay JY, Le Cesne A, Italiano A, Chevreau C, et al. Prediction of local and metastatic recurrence in solitary fibrous tumor: construction of a risk calculator in a multicenter cohort from the French Sarcoma Group (FSG) database. Ann Oncol. 2017;28(8):1979–87.PubMed

39.

Griffin CA, Hawkins AL, Dvorak C, Henkle C, Ellingham T, Perlman EJ. Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors. Cancer Res. 1999;59(12):2776–80.PubMed

40.

Kerr DA, Thompson LDR, Tafe LJ, Jo VY, Neyaz A, Divakar P, et al. Clinicopathologic and genomic characterization of inflammatory myofibroblastic tumors of the head and neck: highlighting a novel fusion and potential diagnostic pitfall. Am J Surg Pathol. 2021;45(12):1707–19.PubMed

41.

Hutarew G, Hauser-Kronberger C, Strasser F, Llenos IC, Dietze O. Immunohistochemistry as a screening tool for ALK rearrangement in NSCLC: evaluation of five different ALK antibody clones and ALK FISH. Histopathology. 2014;65(3):398–407.PubMed

42.

Hornick JL, Sholl LM, Dal Cin P, Childress MA, Lovly CM. Expression of ROS1 predicts ROS1 gene rearrangement in inflammatory myofibroblastic tumors. Mod Pathol. 2015;28(5):732–9.PubMedPubMedCentral

43.

Butrynski JE, D’Adamo DR, Hornick JL, Dal Cin P, Antonescu CR, Jhanwar SC, et al. Crizotinib in ALK-rearranged inflammatory myofibroblastic tumor. N Engl J Med. 2010;363(18):1727–33.PubMedPubMedCentral

44.

Schöffski P, Sufliarsky J, Gelderblom H, Blay JY, Strauss SJ, Stacchiotti S, et al. Crizotinib in patients with advanced, inoperable inflammatory myofibroblastic tumours with and without anaplastic lymphoma kinase gene alterations (European Organisation for Research and Treatment of Cancer 90101 CREATE): a multicentre, single-drug, prospective, non-randomised phase 2 trial. Lancet Respir Med. 2018;6(6):431–41.PubMed

45.

Antonescu CR, Chen HW, Zhang L, Sung YS, Panicek D, Agaram NP, et al. ZFP36-FOSB fusion defines a subset of epithelioid hemangioma with atypical features. Genes Chromosomes Cancer. 2014;53(11):951–9.PubMedPubMedCentral

46.

Huang SC, Zhang L, Sung YS, Chen CL, Krausz T, Dickson BC, et al. Frequent FOS gene rearrangements in epithelioid hemangioma: a molecular study of 58 cases with morphologic reappraisal. Am J Surg Pathol. 2015;39(10):1313–21.PubMedPubMedCentral

47.

Hung YP, Fletcher CD, Hornick JL. FOSB is a useful diagnostic marker for pseudomyogenic hemangioendothelioma. Am J Surg Pathol. 2017;41(5):596–606.PubMed

48.

Ortins-Pina A, Llamas-Velasco M, Turpin S, Soares-de-Almeida L, Filipe P, Kutzner H. FOSB immunoreactivity in endothelia of epithelioid hemangioma (angiolymphoid hyperplasia with eosinophilia). J Cutan Pathol. 2018;45(6):395–402.PubMed

49.

Walther C, Tayebwa J, Lilljebjorn H, Magnusson L, Nilsson J, von Steyern FV, et al. A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma. J Pathol. 2014;232(5):534–40.PubMed

50.

Agaram NP, Zhang L, Cotzia P, Antonescu CR. Expanding the spectrum of genetic alterations in pseudomyogenic hemangioendothelioma with recurrent novel ACTB-FOSB gene fusions. Am J Surg Pathol. 2018;42(12):1653–61.PubMedPubMedCentral

51.

Hornick JL, Fletcher CD. Pseudomyogenic hemangioendothelioma: a distinctive, often multicentric tumor with indolent behavior. Am J Surg Pathol. 2011;35(2):190–201.PubMed

52.

Errani C, Zhang L, Sung YS, Hajdu M, Singer S, Maki RG, et al. A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. Genes Chromosomes Cancer. 2011;50(8):644–53.PubMedPubMedCentral

53.

Doyle LA, Fletcher CD, Hornick JL. Nuclear expression of CAMTA1 distinguishes epithelioid hemangioendothelioma from histologic mimics. Am J Surg Pathol. 2016;40(1):94–102.PubMed

54.

Flucke U, Vogels RJ, de Saint Aubain Somerhausen N, Creytens DH, Riedl RG, van Gorp JM, et al. Epithelioid Hemangioendothelioma: clinicopathologic, immunhistochemical, and molecular genetic analysis of 39 cases. Diagn Pathol. 2014;9:131.PubMedPubMedCentral

55.

Antonescu CR, Le Loarer F, Mosquera JM, Sboner A, Zhang L, Chen CL, et al. Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma. Genes Chromosomes Cancer. 2013;52(8):775–84.PubMedPubMedCentral

56.

Anderson WJ, Fletcher CDM, Hornick JL. Loss of expression of YAP1 C-terminus as an ancillary marker for epithelioid hemangioendothelioma variant with YAP1-TFE3 fusion and other YAP1-related vascular neoplasms. Mod Pathol. 2021;34(11):2036–42.PubMed

57.

Fanburg-Smith JC, Furlong MA, Childers EL. Oral and salivary gland angiosarcoma: a clinicopathologic study of 29 cases. Mod Pathol. 2003;16(3):263–71.PubMed

58.

Nelson BL, Thompson LD. Sinonasal tract angiosarcoma: a clinicopathologic and immunophenotypic study of 10 cases with a review of the literature. Head Neck Pathol. 2007;1(1):1–12.PubMedPubMedCentral

59.

Antonescu CR, Yoshida A, Guo T, Chang NE, Zhang L, Agaram NP, et al. KDR activating mutations in human angiosarcomas are sensitive to specific kinase inhibitors. Cancer Res. 2009;69(18):7175–9.PubMedPubMedCentral

60.

Behjati S, Tarpey PS, Sheldon H, Martincorena I, Van Loo P, Gundem G, et al. Recurrent PTPRB and PLCG1 mutations in angiosarcoma. Nat Genet. 2014;46(4):376–9.PubMedPubMedCentral

61.

Painter CA, Jain E, Tomson BN, Dunphy M, Stoddard RE, Thomas BS, et al. The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research. Nat Med. 2020;26(2):181–7.PubMed

62.

Agaimy A, Bieg M, Michal M, Geddert H, Märkl B, Seitz J, et al. Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas. Am J Surg Pathol. 2017;41(2):195–203.PubMed

63.

Hung YP, Fletcher CDM. Myopericytomatosis: clinicopathologic analysis of 11 cases with molecular identification of recurrent PDGFRB alterations in myopericytomatosis and myopericytoma. Am J Surg Pathol. 2017;41(8):1034–44.PubMed

64.

Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 2013;92(6):1001–7.PubMedPubMedCentral

65.

Antonescu CR, Sung YS, Zhang L, Agaram NP, Fletcher CD. Recurrent SRF-RELA fusions define a novel subset of cellular myofibroma/myopericytoma: a potential diagnostic pitfall with sarcomas with myogenic differentiation. Am J Surg Pathol. 2017;41(5):677–84.PubMedPubMedCentral

66.

Huang HY, Antonescu CR. Sinonasal smooth muscle cell tumors: a clinicopathologic and immunohistochemical analysis of 12 cases with emphasis on the low-grade end of the spectrum. Arch Pathol Lab Med. 2003;127(3):297–304.PubMed

67.

Dias P, Chen B, Dilday B, Palmer H, Hosoi H, Singh S, et al. Strong immunostaining for myogenin in rhabdomyosarcoma is significantly associated with tumors of the alveolar subclass. Am J Pathol. 2000;156(2):399–408.PubMedPubMedCentral

68.

Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, et al. PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children’s oncology group. J Clin Oncol. 2002;20(11):2672–9.PubMed

69.

Azorsa DO, Bode PK, Wachtel M, Cheuk ATC, Meltzer PS, Vokuhl C, et al. Immunohistochemical detection of PAX-FOXO1 fusion proteins in alveolar rhabdomyosarcoma using breakpoint specific monoclonal antibodies. Mod Pathol. 2021;34(4):748–57.PubMed

70.

Bahrami A, Gown AM, Baird GS, Hicks MJ, Folpe AL. Aberrant expression of epithelial and neuroendocrine markers in alveolar rhabdomyosarcoma: a potentially serious diagnostic pitfall. Mod Pathol. 2008;21(7):795–806.PubMed

71.

Thompson LDR, Jo VY, Agaimy A, Llombart-Bosch A, Morales GN, Machado I, et al. Sinonasal tract alveolar rhabdomyosarcoma in adults: a clinicopathologic and immunophenotypic study of fifty-two cases with emphasis on epithelial immunoreactivity. Head Neck Pathol. 2018;12(2):181–92.PubMed

72.

Mosquera JM, Sboner A, Zhang L, Kitabayashi N, Chen CL, Sung YS, et al. Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. Genes Chromosomes Cancer. 2013;52(6):538–50.PubMed

73.

Alaggio R, Zhang L, Sung YS, Huang SC, Chen CL, Bisogno G, et al. A molecular study of pediatric spindle and sclerosing rhabdomyosarcoma: identification of novel and recurrent VGLL2-related fusions in infantile cases. Am J Surg Pathol. 2016;40(2):224–35.PubMedPubMedCentral

74.

Agaram NP, Chen CL, Zhang L, LaQuaglia MP, Wexler L, Antonescu CR. Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis. Genes Chromosomes Cancer. 2014;53(9):779–87.PubMedPubMedCentral

75.

Szuhai K, de Jong D, Leung WY, Fletcher CD, Hogendoorn PC. Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. J Pathol. 2014;232(3):300–7.PubMed

76.

Rekhi B, Upadhyay P, Ramteke MP, Dutt A. MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomes. Mod Pathol. 2016;29(12):1532–40.PubMedPubMedCentral

77.

Tsai JW, ChangChien YC, Lee JC, Kao YC, Li WS, Liang CW, et al. The expanding morphological and genetic spectrum of MYOD1-mutant spindle cell/sclerosing rhabdomyosarcomas: a clinicopathological and molecular comparison of mutated and non-mutated cases. Histopathology. 2019;74(6):933–43.PubMed

78.

Dashti NK, Wehrs RN, Thomas BC, Nair A, Davila J, Buckner JC, et al. Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. Histopathology. 2018;73(3):514–20.PubMed

79.

Agaram NP, Zhang L, Sung YS, Cavalcanti MS, Torrence D, Wexler L, et al. Expanding the spectrum of intraosseous rhabdomyosarcoma: correlation between 2 distinct gene fusions and phenotype. Am J Surg Pathol. 2019;43(5):695–702.PubMedPubMedCentral

80.

Amary F, Perez-Casanova L, Ye H, Cottone L, Strobl AC, Cool P, et al. Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement. Mod Pathol. 2019;32(12):1762–71.PubMedPubMedCentral

81.

Agaram NP, Zhang L, Dickson BC, Swanson D, Sung YS, Panicek DM, et al. A molecular study of synovial chondromatosis. Genes Chromosomes Cancer. 2020;59(3):144–51.PubMed

82.

Pareja F, Brandes AH, Basili T, Selenica P, Geyer FC, Fan D, et al. Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors. Nat Commun. 2018;9(1):3533.PubMedPubMedCentral

83.

França JA, Gayden T, Bareke E, Santos JN, de Sousa SF, Bastos-Rodrigues L, et al. Whole-exome sequencing reveals novel vacuolar ATPase genes’ variants and variants in genes involved in lysosomal biology and autophagosomal formation in oral granular cell tumors. J Oral Pathol Med. 2021;50(4):410–7.PubMed

84.

Lee W, Teckie S, Wiesner T, Ran L, Prieto Granada CN, Lin M, et al. PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors. Nat Genet. 2014;46(11):1227–32.PubMedPubMedCentral

85.

Zhang M, Wang Y, Jones S, Sausen M, McMahon K, Sharma R, et al. Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors. Nat Genet. 2014;46(11):1170–2.PubMedPubMedCentral

86.

Prieto-Granada CN, Wiesner T, Messina JL, Jungbluth AA, Chi P, Antonescu CR. Loss of H3K27me3 expression is a highly sensitive marker for sporadic and radiation-induced MPNST. Am J Surg Pathol. 2016;40(4):479–89.PubMedPubMedCentral

87.

Schaefer IM, Fletcher CD, Hornick JL. Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics. Mod Pathol. 2016;29(1):4–13.PubMed

88.

Cleven AH, Sannaa GA, Briaire-de Bruijn I, Ingram DR, van de Rijn M, Rubin BP, et al. Loss of H3K27 tri-methylation is a diagnostic marker for malignant peripheral nerve sheath tumors and an indicator for an inferior survival. Mod Pathol. 2016;29(6):582–90.PubMedPubMedCentral

89.

Le Guellec S, Macagno N, Velasco V, Lamant L, Lae M, Filleron T, et al. Loss of H3K27 trimethylation is not suitable for distinguishing malignant peripheral nerve sheath tumor from melanoma: a study of 387 cases including mimicking lesions. Mod Pathol. 2017;30(12):1677–87.PubMed

90.

Panse G, Mito JK, Ingram DR, Wani K, Khan S, Lazar AJ, et al. Radiation-associated sarcomas other than malignant peripheral nerve sheath tumours demonstrate loss of histone H3K27 trimethylation(†). Histopathology. 2021;78(2):321–6.PubMed

91.

Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U S A. 2001;98(11):6500–5.PubMedPubMedCentral

92.

Folpe AL, Fanburg-Smith JC, Billings SD, Bisceglia M, Bertoni F, Cho JY, et al. Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature. Am J Surg Pathol. 2004;28(1):1–30.PubMed

93.

Bahrami A, Weiss SW, Montgomery E, Horvai AE, Jin L, Inwards CY, et al. RT-PCR analysis for FGF23 using paraffin sections in the diagnosis of phosphaturic mesenchymal tumors with and without known tumor induced osteomalacia. Am J Surg Pathol. 2009;33(9):1348–54.PubMed

94.

Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the “complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas” (Carney complex). Ann N Y Acad Sci. 2002;968:3–21.PubMed

95.

Torres-Mora J, Dry S, Li X, Binder S, Amin M, Folpe AL. Malignant melanotic schwannian tumor: a clinicopathologic, immunohistochemical, and gene expression profiling study of 40 cases, with a proposal for the reclassification of “melanotic schwannoma.” Am J Surg Pathol. 2014;38(1):94–105.PubMed

96.

Maleszewski JJ, Larsen BT, Kip NS, Castonguay MC, Edwards WD, Carney JA, et al. PRKAR1A in the development of cardiac myxoma: a study of 110 cases including isolated and syndromic tumors. Am J Surg Pathol. 2014;38(8):1079–87.PubMed

97.

Hafeez F, Krakowski AC, Lian CG, Nazarian RM, Maleszewski JJ. Sporadic superficial angiomyxomas demonstrate loss of PRKAR1A expression. Histopathology. 2021. https://doi.org/10.1111/his.14568.CrossRefPubMed

98.

Panagopoulos I, Mertens F, Isaksson M, Domanski HA, Brosjo O, Heim S, et al. Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma. Genes Chromosomes Cancer. 2002;35(4):340–52.PubMed

99.

Yoshida A, Makise N, Wakai S, Kawai A, Hiraoka N. INSM1 expression and its diagnostic significance in extraskeletal myxoid chondrosarcoma. Mod Pathol. 2018;31(5):744–52.PubMed

100.

Crew AJ, Clark J, Fisher C, Gill S, Grimer R, Chand A, et al. Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel-associated box in human synovial sarcoma. EMBO J. 1995;14(10):2333–40.PubMedPubMedCentral

101.

Kosemehmetoglu K, Vrana JA, Folpe AL. TLE1 expression is not specific for synovial sarcoma: a whole section study of 163 soft tissue and bone neoplasms. Mod Pathol. 2009;22(7):872–8.PubMed

102.

Terry J, Saito T, Subramanian S, Ruttan C, Antonescu CR, Goldblum JR, et al. TLE1 as a diagnostic immunohistochemical marker for synovial sarcoma emerging from gene expression profiling studies. Am J Surg Pathol. 2007;31(2):240–6.PubMed

103.

Foo WC, Cruise MW, Wick MR, Hornick JL. Immunohistochemical staining for TLE1 distinguishes synovial sarcoma from histologic mimics. Am J Clin Pathol. 2011;135(6):839–44.PubMed

104.

Zaborowski M, Vargas AC, Pulvers J, Clarkson A, de Guzman D, Sioson L, et al. When used together SS18-SSX fusion-specific and SSX C-terminus immunohistochemistry are highly specific and sensitive for the diagnosis of synovial sarcoma and can replace FISH or molecular testing in most cases. Histopathology. 2020;77(4):588–600.PubMed

105.

Baranov E, McBride MJ, Bellizzi AM, Ligon AH, Fletcher CDM, Kadoch C, et al. A novel SS18-SSX fusion-specific antibody for the diagnosis of synovial sarcoma. Am J Surg Pathol. 2020;44(7):922–33.PubMedPubMedCentral

106.

Agaram NP, Zhang L, Sung YS, Singer S, Stevens T, Prieto-Granada CN, et al. GLI1-amplifications expand the spectrum of soft tissue neoplasms defined by GLI1 gene fusions. Mod Pathol. 2019;32(11):1617–26.PubMedPubMedCentral

107.

Xu B, Chang K, Folpe AL, Kao YC, Wey SL, Huang HY, et al. Head and neck mesenchymal neoplasms with GLI1 gene alterations: a pathologic entity with distinct histologic features and potential for distant metastasis. Am J Surg Pathol. 2020;44(6):729–37.PubMedPubMedCentral

108.

Dahlen A, Mertens F, Mandahl N, Panagopoulos I. Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12). Biochem Biophys Res Commun. 2004;325(4):1318–23.PubMed

109.

Antonescu CR, Agaram NP, Sung YS, Zhang L, Swanson D, Dickson BC. A distinct malignant epithelioid neoplasm with gli1 gene rearrangements, frequent S100 protein expression, and metastatic potential: expanding the spectrum of pathologic entities with ACTB/MALAT1/PTCH1-GLI1 fusions. Am J Surg Pathol. 2018;42(4):553–60.PubMedPubMedCentral

110.

Kerr DA, Pinto A, Subhawong TK, Wilky BA, Schlumbrecht MP, Antonescu CR, et al. Pericytoma with t(7;12) and ACTB-GLI1 fusion: reevaluation of an unusual entity and its relationship to the spectrum of GLI1 fusion-related neoplasms. Am J Surg Pathol. 2019;43(12):1682–92.PubMedPubMedCentral

111.

Delattre O, Zucman J, Melot T, Garau XS, Zucker JM, Lenoir GM, et al. The Ewing family of tumors–a subgroup of small-round-cell tumors defined by specific chimeric transcripts. N Engl J Med. 1994;331(5):294–9.PubMed

112.

Yoshida A, Sekine S, Tsuta K, Fukayama M, Furuta K, Tsuda H. NKX2.2 is a useful immunohistochemical marker for Ewing sarcoma. Am J Surg Pathol. 2012;36(7):993–9.PubMed

113.

Hung YP, Fletcher CD, Hornick JL. Evaluation of NKX2-2 expression in round cell sarcomas and other tumors with EWSR1 rearrangement: imperfect specificity for Ewing sarcoma. Mod Pathol. 2016;29(4):370–80.PubMed

114.

Bishop JA, Alaggio R, Zhang L, Seethala RR, Antonescu CR. Adamantinoma-like Ewing family tumors of the head and neck: a pitfall in the differential diagnosis of basaloid and myoepithelial carcinomas. Am J Surg Pathol. 2015;39(9):1267–74.PubMedPubMedCentral

115.

Rooper LM, Jo VY, Antonescu CR, Nose V, Westra WH, Seethala RR, et al. Adamantinoma-like ewing sarcoma of the salivary glands: a newly recognized mimicker of basaloid salivary carcinomas. Am J Surg Pathol. 2019;43(2):187–94.PubMedPubMedCentral

Titel: Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Soft Tissue Tumors
verfasst von: Vickie Y. Jo
Elizabeth G. Demicco
Publikationsdatum: 21.03.2022
Verlag: Springer US
Erschienen in: Head and Neck Pathology / Ausgabe 1/2022
Elektronische ISSN: 1936-0568
DOI: https://doi.org/10.1007/s12105-022-01425-w

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Soft Tissue Tumors

Abstract

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Abstract

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