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Sarcoma with BCOR genetic alterations

MedGen UID:
1791498
•Concept ID:
C5555057
•
Neoplastic Process
Synonyms: Sarcoma with BCOR Genetic Alterations; sarcoma with BCOR genetic alterations
SNOMED CT: Sarcoma with BCOR genetic alterations (1186893007)
 
Monarch Initiative: MONDO:0958159

Definition

Primitive round cell sarcoma with BCOR genetic alterations, resulting in oncogenic activation and a high expression of BCOR. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSarcoma with BCOR genetic alterations

Professional guidelines

PubMed

Endometrial stromal tumors of the uterus: Epidemiology, pathological and biological features, treatment options and clinical outcomes.
Gadducci A, Multinu F, De Vitis LA, Cosio S, Carinelli S, Aletti GD
Gynecol Oncol 2023 Apr;171:95-105. Epub 2023 Feb 24 doi: 10.1016/j.ygyno.2023.02.009. PMID: 36842409
Strategies for the Treatment of Infantile Soft Tissue Sarcomas With BCOR Alterations.
Merjaneh N, Kim H, Escoto H, Metts J, Ray A, Bukowinski A, LeBlanc Z, Fair D, Watanbe M, Alva E, Todd K, Daley J, Hartt D, Cramer SL, Szabo S, Pressey JG
J Pediatr Hematol Oncol 2023 Aug 1;45(6):315-321. Epub 2023 Jan 10 doi: 10.1097/MPH.0000000000002620. PMID: 36706311
Myxoid Mesenchymal Tumors of the Uterus: An Update on Classification, Definitions, and Differential Diagnosis.
Busca A, Parra-Herran C
Adv Anat Pathol 2017 Nov;24(6):354-361. doi: 10.1097/PAP.0000000000000164. PMID: 28787279

Recent clinical studies

Etiology

Ewing and Ewing-like sarcomas: A morphological guide through genetically-defined entities.
Yoshida A
Pathol Int 2023 Jan;73(1):12-26. Epub 2022 Dec 9 doi: 10.1111/pin.13293. PMID: 36484765Free PMC Article
Cytology of Undifferentiated Round-Cell Sarcomas of Bone and Soft Tissue: Ewing Sarcoma or Not Ewing Sarcoma, That Is the Question.
Gajdzis P, Pierron G, Klijanienko J
Acta Cytol 2022;66(4):295-306. Epub 2021 Aug 25 doi: 10.1159/000518146. PMID: 34515032

Diagnosis

Ewing and Ewing-like sarcomas: A morphological guide through genetically-defined entities.
Yoshida A
Pathol Int 2023 Jan;73(1):12-26. Epub 2022 Dec 9 doi: 10.1111/pin.13293. PMID: 36484765Free PMC Article
High-grade endometrial stromal sarcoma-like' sarcoma in male: Does it exist? A case report and review of the literature.
Cordier F, Van der Meulen J, Loontiens S, Van Roy N, Lapeire L, Willaert W, Ferdinande L, Van de Vijver K, Van Dorpe J, Creytens D
Pathol Res Pract 2023 Jan;241:154228. Epub 2022 Nov 17 doi: 10.1016/j.prp.2022.154228. PMID: 36455366
Cytology of Undifferentiated Round-Cell Sarcomas of Bone and Soft Tissue: Ewing Sarcoma or Not Ewing Sarcoma, That Is the Question.
Gajdzis P, Pierron G, Klijanienko J
Acta Cytol 2022;66(4):295-306. Epub 2021 Aug 25 doi: 10.1159/000518146. PMID: 34515032

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