SMARCB1-Deficient Skull Base Chondrosarcoma with 12p Duplication Presenting as Somatic-Type Malignancy Arising from Metastatic Seminoma

Burningham Z, Hashibe M, Spector L, Schiffman JD (2012) The epidemiology of sarcoma. Clin Sarcoma Res 2:14

Article  PubMed  PubMed Central  Google Scholar 

Ellis MA, Gerry DR, Byrd JK (2016) Head and neck chondrosarcomas: analysis of the Surveillance, Epidemiology, and end results database. Head Neck 38:1359–1366

Article  PubMed  Google Scholar 

Coca-Pelaz A, Rodrigo JP, Triantafyllou A, Hunt JL, Fernández-Miranda JC, Strojan P et al (2014) Chondrosarcomas of the head and neck. Eur Arch Otorhinolaryngol 271:2601–2609

PubMed  Google Scholar 

Tallegas M, Miquelestorena-Standley É, Labit-Bouvier C, Badoual C, Francois A, Gomez-Brouchet A et al (2019) IDH mutation status in a series of 88 head and neck chondrosarcomas: different profile between tumors of the skull base and tumors involving the facial skeleton and the laryngotracheal tract. Hum Pathol 84:183–191

Article  CAS  PubMed  Google Scholar 

Baumhoer D, Triantafyllou A, Jay A (2022) The chondrosarcoma family of tumours. In: WHO Classification of Tumours Editorial Board. Head and neck tumours [beta version ahead of print]. Lyon (France): International Agency for Research on Cancer. 5th ed. vol. 9. Available from: https://tumourclassification.iarc.who.int/chaptercontent/52/176

Saito K, Unni KK, Wollan PC, Lund BA (1995) Chondrosarcoma of the jaw and facial bones. Cancer 76:1550–1558

Article  CAS  PubMed  Google Scholar 

Colecchia M, Necchi A, Paolini B, Nicolai N, Salvioni R (2011) Teratoma with somatic-type malignant components in germ cell tumors of the testis: a clinicopathologic analysis of 40 cases with outcome correlation. Int J Surg Pathol 19:321–327

Article  PubMed  Google Scholar 

Kum JB, Ulbright TM, Williamson SR, Wang M, Zhang S, Foster RS et al (2012) Molecular genetic evidence supporting the origin of somatic-type malignancy and teratoma from the same progenitor cell. Am J Surg Pathol 36:1849–1856

Article  PubMed  Google Scholar 

Alrehaili M, Tashkandi E (2020) Testicular mixed germ cell tumor combined with malignant transformation to chondrosarcoma: a very rare and aggressive disease. Am J Case Rep 21:e922933

Article  PubMed  PubMed Central  Google Scholar 

Konneh B, Leonard AJ, Lafin JT, Jia L, Bagrodia A (2022) Management of testicular germ cell tumor with somatic-type malignancy. Oncol (Williston Park) 36:375–377

Google Scholar 

Magers MJ, Kao CS, Cole CD, Rice KR, Foster RS, Einhorn LH et al (2014) Somatic-type malignancies arising from testicular germ cell tumors: a clinicopathologic study of 124 cases with emphasis on glandular tumors supporting frequent yolk sac tumor origin. Am J Surg Pathol 38:1396–1409

Article  PubMed  Google Scholar 

Wyvekens N, Sholl LM, Yang Y, Tran I, Vasudevaraja V, Dickson BC et al (2022) Molecular correlates of male germ cell tumors with overgrowth of components resembling somatic malignancies. Mod Pathol 35:1966–1973

Article  CAS  PubMed  Google Scholar 

Rice KR, Magers MJ, Beck SD, Cary KC, Einhorn LH, Ulbright TM et al (2014) Management of germ cell tumors with somatic type malignancy: pathological features, prognostic factors and survival outcomes. J Urol 192:1403–1409

Article  PubMed  Google Scholar 

Guo CC, Czerniak B (2023) Reprint of: somatic-type malignancies in testicular germ cell tumors. Hum Pathol 133:102–114

Article  PubMed  Google Scholar 

Howitt BE, Magers MJ, Rice KR, Cole CD, Ulbright TM (2015) Many postchemotherapy sarcomatous tumors in patients with testicular germ cell tumors are sarcomatoid yolk sac tumors: a study of 33 cases. Am J Surg Pathol 39:251–259

Article  PubMed  Google Scholar 

Levy DR, Agaram NP, Kao CS, Franks SE, Kesler KA, Stram AR et al (2021) Vasculogenic mesenchymal tumor: a clinicopathologic and molecular study of 55 cases of a distinctive neoplasm originating from Mediastinal Yolk Sac Tumor and an occasional precursor to Angiosarcoma. Am J Surg Pathol 45:463–476

Article  PubMed  Google Scholar 

Dieckmann KP, Anheuser P, Gehrckens R, Wilczak W, Sauter G, Höflmayer D (2017) Pure testicular seminoma relapsing late with somatic type malignancy. Case Rep Oncol Med 2017:2457023

PubMed  PubMed Central  Google Scholar 

Guo CC, Punar M, Contreras AL, Tu SM, Pisters L, Tamboli P et al (2009) Testicular germ cell tumors with sarcomatous components: an analysis of 33 cases. Am J Surg Pathol 33:1173–1178

Article  PubMed  Google Scholar 

Carver BS, Shayegan B, Serio A, Motzer RJ, Bosl GJ, Sheinfeld J (2007) Long-term clinical outcome after postchemotherapy retroperitoneal lymph node dissection in men with residual teratoma. J Clin Oncol 25:1033–1037

Article  PubMed  Google Scholar 

Hematpour K, Bennett CJ, Rogers D, Head CS (2006) Supraclavicular lymph node: incidence of unsuspected metastatic prostate cancer. Eur Arch Otorhinolaryngol 263:872–874

Article  PubMed  Google Scholar 

Mochizuki Y, Tsuchiya M, Oyama J, Wada A, Kugimoto T, Kuroshima T et al (2022) Left supraclavicular (Virchow’s) node metastasis detected before primary infradiaphragmatic tumor: a case series. J Med Case Rep 16:33

Article  PubMed  PubMed Central  Google Scholar 

Law C, AlshiekhAli Z, Taylor N, Howlett D (2020) Supraclavicular left neck mass: an unusual presentation of metastatic testicular cancer in two older men. BMJ Case Rep 13(4):e233368

Idrees M, Looijenga L, Boormans J, Colecchia M (2022) Teratoma with somatic-type malignancy. In: WHO Classification of Tumours Editorial Board. Urinary and male genital tumours, 5th edn, vol. 8. International Agency for Research on Cancer, Lyon, France. Available from: https://tumourclassification.iarc.who.int/chapters/36

Necchi A, Colecchia M, Nicolai N, Piva L, Catanzaro M, Biasoni D et al (2011) Towards the definition of the best management and prognostic factors of teratoma with malignant transformation: a single-institution case series and new proposal. BJU Int 107:1088–1094

Article  PubMed  Google Scholar 

Hwang MJ, Hamza A, Zhang M, Tu SM, Pisters LL, Czerniak B et al (2022) Somatic-type malignancies in testicular germ cell tumors: a clinicopathologic study of 63 cases. Am J Surg Pathol 46:11–17

Article  PubMed  PubMed Central  Google Scholar 

Lobo J, Rodrigues Â, Henrique R, Christiansen A, Beyer J, Moch H et al (2022) Morphological spectrum and molecular features of somatic malignant transformation in germ cell tumours. Histopathology 81:84–98

Article  PubMed  Google Scholar 

Cho HY, Lee M, Takei H, Dancer J, Ro JY, Zhai QJ (2009) Immunohistochemical comparison of chordoma with chondrosarcoma, myxopapillary ependymoma, and chordoid meningioma. Appl Immunohistochem Mol Morphol 17:131–138

Article  PubMed  Google Scholar 

Oakley GJ, Fuhrer K, Seethala RR, Brachyury (2008) SOX-9, and podoplanin, new markers in the skull base chordoma vs chondrosarcoma differential: a tissue microarray-based comparative analysis. Mod Pathol 21:1461–1469

Article  CAS  PubMed  PubMed Central  Google Scholar 

Miettinen M, Wang Z, Lasota J, Heery C, Schlom J, Palena C (2015) Nuclear Brachyury expression is consistent in Chordoma, Common in Germ Cell tumors and small cell carcinomas, and Rare in other Carcinomas and Sarcomas: an immunohistochemical study of 5229 cases. Am J Surg Pathol 39:1305–1312

Article  PubMed  PubMed Central  Google Scholar 

Schaefer IM, Hornick JL (2021) SWI/SNF complex-deficient soft tissue neoplasms: an update. Semin Diagn Pathol 38:222–231

Article  PubMed  Google Scholar 

Hollmann TJ, Hornick JL (2011) INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol 35:e47–63

Article  PubMed  Google Scholar 

Agaimy A (2020) What is new in epithelioid soft tissue tumors? Virchows Arch 476:81–96

Article  CAS  PubMed  Google Scholar 

Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA (2011) Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer 56:7–15

Article  PubMed  PubMed Central  Google Scholar 

Shih AR, Cote GM, Chebib I, Choy E, DeLaney T, Deshpande V et al (2018) Clinicopathologic characteristics of poorly differentiated chordoma. Mod Pathol 31:1237–1245

Article  CAS  PubMed  Google Scholar 

Le Loarer F, Zhang L, Fletcher CD, Ribeiro A, Singer S, Italiano A et al (2014) Consistent SMARCB1 homozygous deletions in epithelioid sarcoma and in a subset of myoepithelial carcinomas can be reliably detected by FISH in archival material. Genes Chromosomes Cancer 53:475–486

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hornick JL, Dal Cin P, Fletcher CD (2009) Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol 33:542–550

Article  PubMed  Google Scholar 

Kohashi K, Oda Y, Yamamoto H, Tamiya S, Oshiro Y, Izumi T et al (2008) SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma. Am J Surg Pathol 32:1168–1174

Article  PubMed  Google Scholar 

Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR (2008) Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet 74:358–366

Article  CAS  PubMed  Google Scholar 

Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L (2008) Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 29:227–231

Article  CAS  PubMed  Google Scholar 

Forest F, David A, Arrufat S, Pierron G, Ranchere-Vince D, Stephan JL et al (2012) Conventional chondrosarcoma in a survivor of rhabdoid tumor: enlarging the spectrum of tumors associated with SMARCB1 germline mutations. Am J Surg Pathol 36:1892–1896

Article  PubMed 

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