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CIC-DUX4 Sarcoma

MedGen UID:
1720345
Concept ID:
C5237353
Neoplastic Process
Synonym: CIC::DUX4 Sarcoma

Definition

An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4 gene on chromosome 4. The translocation results in CIC-DUX4, t(4;19)(q35;q13) fusions. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Isoyama S, Tamaki N, Noguchi Y, Okamura M, Yoshimatsu Y, Kondo T, Suzuki T, Yaguchi SI, Dan S
Cell Death Dis 2023 Feb 27;14(2):169. doi: 10.1038/s41419-023-05690-7. PMID: 36849535Free PMC Article

Recent clinical studies

Etiology

Brahmi M, Vanacker H, Macagno N, Tirode F, Dufresne A
Curr Opin Oncol 2022 Jul 1;34(4):342-347. Epub 2022 Jun 22 doi: 10.1097/CCO.0000000000000855. PMID: 35730520
Oyama R, Takahashi M, Yoshida A, Sakumoto M, Takai Y, Kito F, Shiozawa K, Qiao Z, Arai Y, Shibata T, Araki Y, Endo M, Kawai A, Kondo T
Sci Rep 2017 Jul 5;7(1):4712. doi: 10.1038/s41598-017-04967-0. PMID: 28680140Free PMC Article
Yoshida A, Arai Y, Kobayashi E, Yonemori K, Ogura K, Hama N, Mukai W, Motoi T, Kawai A, Shibata T, Hiraoka N
Histopathology 2017 Sep;71(3):461-469. Epub 2017 Jul 5 doi: 10.1111/his.13252. PMID: 28493604
Chebib I, Jo VY
Cancer Cytopathol 2016 May;124(5):350-61. Epub 2016 Jan 22 doi: 10.1002/cncy.21685. PMID: 26800124

Diagnosis

Brahmi M, Vanacker H, Macagno N, Tirode F, Dufresne A
Curr Opin Oncol 2022 Jul 1;34(4):342-347. Epub 2022 Jun 22 doi: 10.1097/CCO.0000000000000855. PMID: 35730520
Carrabotta M, Laginestra MA, Durante G, Mancarella C, Landuzzi L, Parra A, Ruzzi F, Toracchio L, De Feo A, Giusti V, Pasello M, Righi A, Lollini PL, Palmerini E, Donati DM, Manara MC, Scotlandi K
Cancer Res 2022 Feb 15;82(4):708-720. doi: 10.1158/0008-5472.CAN-21-1222. PMID: 34903601Free PMC Article
Yang S, Liu L, Yan Y, Jiang L, Han S, Shen D, Zhang B
Arch Pathol Lab Med 2022 Jun 1;146(6):735-741. doi: 10.5858/arpa.2021-0153-OA. PMID: 34525172
Tamada H, Kobayashi M, Sano K, Uehara T, Matsumoto Y, Tateishi A, Ohya M, Kito M, Aoki K, Kanno H
Ultrastruct Pathol 2020 Mar 3;44(2):237-244. Epub 2020 Mar 9 doi: 10.1080/01913123.2020.1737610. PMID: 32148152
Yoshimoto T, Tanaka M, Homme M, Yamazaki Y, Takazawa Y, Antonescu CR, Nakamura T
Cancer Res 2017 Jun 1;77(11):2927-2937. Epub 2017 Apr 12 doi: 10.1158/0008-5472.CAN-16-3351. PMID: 28404587Free PMC Article

Therapy

Isoyama S, Tamaki N, Noguchi Y, Okamura M, Yoshimatsu Y, Kondo T, Suzuki T, Yaguchi SI, Dan S
Cell Death Dis 2023 Feb 27;14(2):169. doi: 10.1038/s41419-023-05690-7. PMID: 36849535Free PMC Article
Carrabotta M, Laginestra MA, Durante G, Mancarella C, Landuzzi L, Parra A, Ruzzi F, Toracchio L, De Feo A, Giusti V, Pasello M, Righi A, Lollini PL, Palmerini E, Donati DM, Manara MC, Scotlandi K
Cancer Res 2022 Feb 15;82(4):708-720. doi: 10.1158/0008-5472.CAN-21-1222. PMID: 34903601Free PMC Article
Oyama R, Takahashi M, Yoshida A, Sakumoto M, Takai Y, Kito F, Shiozawa K, Qiao Z, Arai Y, Shibata T, Araki Y, Endo M, Kawai A, Kondo T
Sci Rep 2017 Jul 5;7(1):4712. doi: 10.1038/s41598-017-04967-0. PMID: 28680140Free PMC Article

Prognosis

Brahmi M, Vanacker H, Macagno N, Tirode F, Dufresne A
Curr Opin Oncol 2022 Jul 1;34(4):342-347. Epub 2022 Jun 22 doi: 10.1097/CCO.0000000000000855. PMID: 35730520
Maekawa A, Matsunobu T, Nabeshima A, Fukushima S, Makihara K, Hisaoka M, Iwamoto Y
Am J Case Rep 2021 Feb 28;22:e929349. doi: 10.12659/AJCR.929349. PMID: 33640895Free PMC Article
Yoshimatsu Y, Noguchi R, Tsuchiya R, Kito F, Sei A, Sugaya J, Nakagawa M, Yoshida A, Iwata S, Kawai A, Kondo T
Hum Cell 2020 Apr;33(2):427-436. Epub 2020 Jan 2 doi: 10.1007/s13577-019-00312-x. PMID: 31898195
Camille A, Anne-Sophie B, Cécile P, Severine BC, Gaelle P, Olivier D, Geraldine SS, Leer-Florin AM, Eleni N, Christian P, Chantal D, Dominique P, Hervé S
Pediatr Dev Pathol 2018 Jul-Aug;21(4):406-410. Epub 2017 May 3 doi: 10.1177/1093526617706818. PMID: 28466754
Oyama R, Takahashi M, Yoshida A, Sakumoto M, Takai Y, Kito F, Shiozawa K, Qiao Z, Arai Y, Shibata T, Araki Y, Endo M, Kawai A, Kondo T
Sci Rep 2017 Jul 5;7(1):4712. doi: 10.1038/s41598-017-04967-0. PMID: 28680140Free PMC Article

Clinical prediction guides

Isoyama S, Tamaki N, Noguchi Y, Okamura M, Yoshimatsu Y, Kondo T, Suzuki T, Yaguchi SI, Dan S
Cell Death Dis 2023 Feb 27;14(2):169. doi: 10.1038/s41419-023-05690-7. PMID: 36849535Free PMC Article
Charville GW, Wang WL, Ingram DR, Roy A, Thomas D, Patel RM, Hornick JL, van de Rijn M, Lazar AJ
Mod Pathol 2017 Sep;30(9):1312-1320. Epub 2017 Jun 23 doi: 10.1038/modpathol.2017.49. PMID: 28643791
Yoshida A, Arai Y, Kobayashi E, Yonemori K, Ogura K, Hama N, Mukai W, Motoi T, Kawai A, Shibata T, Hiraoka N
Histopathology 2017 Sep;71(3):461-469. Epub 2017 Jul 5 doi: 10.1111/his.13252. PMID: 28493604
Lazo de la Vega L, Hovelson DH, Cani AK, Liu CJ, McHugh JB, Lucas DR, Thomas DG, Patel RM, Tomlins SA
Hum Pathol 2016 Dec;58:161-170. Epub 2016 Sep 21 doi: 10.1016/j.humpath.2016.09.004. PMID: 27664537Free PMC Article

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