{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T19:42:48Z","timestamp":1740166968550,"version":"3.37.3"},"reference-count":29,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T00:00:00Z","timestamp":1693872000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol Surg Rep"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003CIC-DUX4 sarcoma is a rare, aggressive tumor that is difficult to diagnose. Although it is closely related to Ewing's sarcoma, each is a distinct pathologic entity and both have been previously reported in the skin, lymph nodes, and viscera. We report the first description of CIC-DUX4 involving the posterior cranial fossa and review the distinctive symptomatology, morphology, immunoprofile, and genetic signature that differentiate this rare tumor.<\/jats:p><jats:p>\n          Case Report\u2003A 32-year-old man presented with an enlarging right lateral neck mass, progressive hoarseness, and orofacial pain. Biopsy revealed a high-grade undifferentiated malignant neoplasm. Imaging demonstrated an 8-cm mass in the right neck extending to the skull base and abutting the carotid sheath, in addition to pulmonary nodules and pelvic lymphadenopathy. Despite initial response to chemotherapy, he experienced disease progression and underwent surgical resection, radical neck dissection, and brachytherapy. Definitive pathologic diagnosis was achieved with next-generation sequencing. Within weeks of treatment, he developed symptoms reflecting progression of disease involving the neck, posterior cranial fossa, and lung. Adjuvant chemotherapy was planned, but the patient succumbed to his disease prior to initiation of further therapy.<\/jats:p><jats:p>\n          Conclusion\u2003CIC-DUX4 sarcomas are uncommon and can progress rapidly. Diagnosis requires either fluorescence in situ hybridization or next-generation sequencing. Due to its rarity, there is no standard-of-care treatment for this tumor and further investigations are needed to understand disease behavior and develop targeted therapeutic modalities.<\/jats:p>","DOI":"10.1055\/a-2166-5688","type":"journal-article","created":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T00:36:10Z","timestamp":1693960570000},"page":"e124-e128","source":"Crossref","is-referenced-by-count":0,"title":["CIC-DUX4 Sarcoma Involving the Skull Base: A Rare Presentation and Review of the Literature"],"prefix":"10.1055","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8832-1527","authenticated-orcid":false,"given":"Sara B.","family":"Hobday","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology \u2013 Head and Neck Surgery at the University of Pennsylvania, Philadelphia, Pennsylvania, United States"},{"name":"Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila J.","family":"Mady","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology \u2013 Head and Neck Surgery at the University of Pennsylvania, Philadelphia, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alec M.","family":"Jacobson","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher H.","family":"Rassekh","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology \u2013 Head and Neck Surgery at the University of Pennsylvania, Philadelphia, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,10,13]]},"reference":[{"issue":"7248","key":"ref1","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1136\/bmj.320.7248.1521","article-title":"Management of lateral neck masses in adults","volume":"320","author":"M Gleeson","year":"2000","journal-title":"BMJ"},{"key":"ref2","first-page":"S1","article-title":"Clinical practice guideline: evaluation of the neck mass in adults","volume":"157","author":"M A Pynnonen","year":"2017","journal-title":"Otolaryngol Head Neck Surg"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/0165-4608(95)00240-5","article-title":"t(4;19)(q35;q13.1): a recurrent change in primitive mesenchymal tumors?","volume":"87","author":"K E Richkind","year":"1996","journal-title":"Cancer Genet Cytogenet"},{"issue":"11","key":"ref4","doi-asserted-by":"crossref","first-page":"2927","DOI":"10.1158\/0008-5472.CAN-16-3351","article-title":"CIC-DUX4 induces small round cell sarcomas distinct from Ewing sarcoma","volume":"77","author":"T Yoshimoto","year":"2017","journal-title":"Cancer Res"},{"issue":"07","key":"ref5","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1097\/PAS.0000000000000846","article-title":"Sarcomas with CIC-rearrangements are a distinct pathologic entity with aggressive outcome: a clinicopathologic and molecular study of 115 cases","volume":"41","author":"C R Antonescu","year":"2017","journal-title":"Am J Surg Pathol"},{"issue":"13","key":"ref6","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1093\/hmg\/ddl136","article-title":"Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation","volume":"15","author":"M Kawamura-Saito","year":"2006","journal-title":"Hum Mol Genet"},{"issue":"07","key":"ref7","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1002\/gcc.22172","article-title":"Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumors compared to EWSR1-rearranged Ewing sarcomas: further evidence toward distinct pathologic entities","volume":"53","author":"K Specht","year":"2014","journal-title":"Genes Chromosomes Cancer"},{"issue":"02","key":"ref8","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.humpath.2011.04.023","article-title":"The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas","volume":"43","author":"C Graham","year":"2012","journal-title":"Hum Pathol"},{"issue":"08","key":"ref9","doi-asserted-by":"crossref","first-page":"3401","DOI":"10.1172\/JCI126366","article-title":"CIC-DUX4 oncoprotein drives sarcoma metastasis and tumorigenesis via distinct regulatory programs","volume":"129","author":"R A Okimoto","year":"2019","journal-title":"J Clin Invest"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1080\/01913123.2020.1737610","article-title":"Ultrastructure of CIC-DUX4 sarcoma: the first pathological report","volume":"44","author":"H Tamada","year":"2020","journal-title":"Ultrastruct Pathol"},{"issue":"03","key":"ref11","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1093\/carcin\/bgh011","article-title":"Expression of ets-related transcriptional factor E1AF is associated with tumor progression and over-expression of matrilysin in human gastric cancer","volume":"25","author":"H Yamamoto","year":"2004","journal-title":"Carcinogenesis"},{"issue":"05","key":"ref12","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/path.1387","article-title":"Association of ets-related transcriptional factor E1AF expression with tumour progression and overexpression of MMP-1 and matrilysin in human colorectal cancer","volume":"200","author":"S Horiuchi","year":"2003","journal-title":"J Pathol"},{"issue":"01","key":"ref13","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1006\/gyno.1999.5708","article-title":"Expression of carbohydrate antigens in advanced-stage ovarian carcinomas and their metastases: a clinicopathologic study","volume":"77","author":"B Davidson","year":"2000","journal-title":"Gynecol Oncol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/0-306-46832-8_13","article-title":"The PEA3 group of ETS-related transcription factors. Role in breast cancer metastasis","volume":"480","author":"Y de Launoit","year":"2000","journal-title":"Adv Exp Med Biol"},{"issue":"02","key":"ref15","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/0165-4608(92)90005-S","article-title":"12q13 abnormality in rhabdomyosarcoma. A nonrandom occurrence?","volume":"60","author":"P Roberts","year":"1992","journal-title":"Cancer Genet Cytogenet"},{"issue":"03","key":"ref16","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1097\/PAS.0000000000000570","article-title":"CIC-rearranged sarcomas: a study of 20 cases and comparisons with Ewing sarcomas","volume":"40","author":"A Yoshida","year":"2016","journal-title":"Am J Surg Pathol"},{"issue":"03","key":"ref17","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1111\/his.13252","article-title":"CIC break-apart fluorescence in-situ hybridization misses a subset of CIC-DUX4 sarcomas: a clinicopathological and molecular study","volume":"71","author":"A Yoshida","year":"2017","journal-title":"Histopathology"},{"issue":"03","key":"ref18","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/gcc.20945","article-title":"High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas","volume":"51","author":"A Italiano","year":"2012","journal-title":"Genes Chromosomes Cancer"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"87","DOI":"10.12659\/AJCR.892551","article-title":"High-grade undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: emerging entities of soft tissue tumors with unique histopathologic features: a case report and literature review","volume":"16","author":"A Haidar","year":"2015","journal-title":"Am J Case Rep"},{"issue":"02","key":"ref20","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.pathol.2019.09.015","article-title":"Undifferentiated round cell sarcomas with CIC-DUX4 gene fusion: expanding the clinical spectrum","volume":"52","author":"I Br\u010di\u0107","year":"2020","journal-title":"Pathology"},{"issue":"04","key":"ref21","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1177\/1093526617706818","article-title":"Sarcoma with CIC-DUX4 gene fusion: case report of kidney tumor location in a 12-year-old boy","volume":"21","author":"A Camille","year":"2018","journal-title":"Pediatr Dev Pathol"},{"issue":"03","key":"ref22","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s10014-020-00366-y","article-title":"Primary spinal intramedullary Ewing-like sarcoma harboring CIC-DUX4 translocation: a similar cytological appearance as its soft tissue counterpart but no lobulation in association with desmoplastic stroma","volume":"37","author":"S Yamada","year":"2020","journal-title":"Brain Tumor Pathol"},{"issue":"04","key":"ref23","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1177\/1093526617707856","article-title":"Primary spinal epidural CIC-DUX4 undifferentiated sarcoma in a child","volume":"21","author":"J E Donahue","year":"2018","journal-title":"Pediatr Dev Pathol"},{"issue":"12","key":"ref24","doi-asserted-by":"crossref","first-page":"e594","DOI":"10.1111\/1346-8138.16157","article-title":"Case of CIC-DUX4 sarcoma of the skin: histological simulant of epithelioid angiosarcoma","volume":"48","author":"E Maejima","year":"2021","journal-title":"J Dermatol"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"e925683","DOI":"10.12659\/AJCR.925683","article-title":"A rare case of round cell sarcoma with cic-dux4 mutation mimicking a phlegmon: review of literature","volume":"21","author":"D Donthi","year":"2020","journal-title":"Am J Case Rep"},{"issue":"06","key":"ref26","doi-asserted-by":"crossref","first-page":"557","DOI":"10.4103\/ijmr.IJMR_2144_18","article-title":"Clinicopathologic features of undifferentiated round cell sarcomas of bone & soft tissues: an attempt to unravel the BCOR-CCNB3- & CIC-DUX4-positive sarcomas","volume":"150","author":"B Rekhi","year":"2019","journal-title":"Indian J Med Res"},{"issue":"03","key":"ref27","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1097\/PAS.0000000000000772","article-title":"DUX4 immunohistochemistry is a highly sensitive and specific marker for CIC-DUX4 fusion-positive round cell tumor","volume":"41","author":"B Siegele","year":"2017","journal-title":"Am J Surg Pathol"},{"issue":"10","key":"ref28","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/s41389-021-00357-4","article-title":"Inactivation of the CIC-DUX4 oncogene through P300\/CBP inhibition, a therapeutic approach for CIC-DUX4 sarcoma","volume":"10","author":"D Bosnakovski","year":"2021","journal-title":"Oncogenesis"},{"issue":"34","key":"ref29","doi-asserted-by":"crossref","first-page":"20776","DOI":"10.1073\/pnas.2009137117","article-title":"Negative MAPK-ERK regulation sustains CIC-DUX4 oncoprotein expression in undifferentiated sarcoma","volume":"117","author":"Y K Lin","year":"2020","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["Journal of Neurological Surgery Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2166-5688.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T22:51:42Z","timestamp":1697237502000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2166-5688"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,5]]},"references-count":29,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2023,10,13]]},"published-print":{"date-parts":[[2023,10]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2166-5688","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2193-6358","2193-6366"],"issn-type":[{"type":"print","value":"2193-6358"},{"type":"electronic","value":"2193-6366"}],"subject":[],"published-other":{"date-parts":[[2023,9,5]]},"published":{"date-parts":[[2023,9,5]]}}}