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ETV6 Gene Rearrangement

MedGen UID:
1649009
•Concept ID:
C4744494
•
Cell or Molecular Dysfunction
Synonyms: ETS Variant 6 Gene Rearrangement; ETS Variant Gene 6 Rearrangement; ETV6 Rearrangement; TEL Gene Rearrangement; TEL Oncogene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the ETV6 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVETV6 Gene Rearrangement

Professional guidelines

PubMed

Macrocystic (Mammary Analogue) Secretory Carcinoma: An Unusual Variant and a Pitfall in the Differential Diagnosis of Cystic Lesions in the Head and Neck.
Hernandez-Prera JC, Holmes BJ, Valentino A, Harshan M, Bacchi CE, Petersson F, Liu KK, Najfeld V, Wenig BM
Am J Surg Pathol 2019 Nov;43(11):1483-1492. doi: 10.1097/PAS.0000000000001309. PMID: 31464708

Recent clinical studies

Etiology

Secretory carcinoma of the sinonasal cavity and pharynx: A retrospective analysis of four cases and literature review.
Yue C, Zhao X, Ma D, Piao Y
Ann Diagn Pathol 2022 Dec;61:152052. Epub 2022 Oct 8 doi: 10.1016/j.anndiagpath.2022.152052. PMID: 36270241
Clinicopathological characteristics and outcomes of 23 patients with secretory carcinoma of major salivary glands.
Sun J, Liu S, Fu K, Gao N, Li R, He W, Gao Z
Sci Rep 2021 Nov 22;11(1):22639. doi: 10.1038/s41598-021-01970-4. PMID: 34811395Free PMC Article
Diagnostic Approaches for Salivary Gland Tumors with Secretory and Microcystic Features.
Woo HY, Choi EC, Yoon SO
Head Neck Pathol 2018 Jun;12(2):237-243. Epub 2017 Nov 14 doi: 10.1007/s12105-017-0864-4. PMID: 29139086Free PMC Article
Clinicopathologic and molecular characterization of mammary analogue secretory carcinoma of salivary gland origin.
Baghai F, Yazdani F, Etebarian A, Garajei A, Skalova A
Pathol Res Pract 2017 Sep;213(9):1112-1118. Epub 2017 Jul 23 doi: 10.1016/j.prp.2017.07.017. PMID: 28781197
Mammary analogue secretory carcinoma of salivary glands: a new entity associated with ETV6 gene rearrangement.
Majewska H, Skálová A, Stodulski D, Klimková A, Steiner P, Stankiewicz C, Biernat W
Virchows Arch 2015 Mar;466(3):245-54. Epub 2014 Dec 12 doi: 10.1007/s00428-014-1701-8. PMID: 25503077Free PMC Article

Diagnosis

Secretory carcinoma of the sinonasal cavity and pharynx: A retrospective analysis of four cases and literature review.
Yue C, Zhao X, Ma D, Piao Y
Ann Diagn Pathol 2022 Dec;61:152052. Epub 2022 Oct 8 doi: 10.1016/j.anndiagpath.2022.152052. PMID: 36270241
Utilizing next-generation sequencing to characterize a case of acute myeloid leukemia with t(4;12)(q12;p13) in the absence of ETV6/CHIC2 and ETV6/PDGFRA gene fusions.
Koleilat A, McGarrah PW, Olteanu H, Van Dyke DL, Smadbeck JB, Johnson SH, Vasmatzis G, Hoppman NL, Xu X, Ketterling RP, Greipp PT, Baughn LB, Patnaik MS, Peterson JF
Cancer Genet 2022 Jan;260-261:1-5. Epub 2021 Nov 6 doi: 10.1016/j.cancergen.2021.11.002. PMID: 34781094
Secretory Carcinoma Of Salivary Gland: A Clincopathological Analysis.
Akhtar N, Atiq A, Loya A, Hassan U, Hussain M, Abu-Bakar M, Mushtaq S
J Ayub Med Coll Abbottabad 2020 Oct-Dec;32(4):481-486. PMID: 33225648
Macrocystic (Mammary Analogue) Secretory Carcinoma: An Unusual Variant and a Pitfall in the Differential Diagnosis of Cystic Lesions in the Head and Neck.
Hernandez-Prera JC, Holmes BJ, Valentino A, Harshan M, Bacchi CE, Petersson F, Liu KK, Najfeld V, Wenig BM
Am J Surg Pathol 2019 Nov;43(11):1483-1492. doi: 10.1097/PAS.0000000000001309. PMID: 31464708
Diagnostic Approaches for Salivary Gland Tumors with Secretory and Microcystic Features.
Woo HY, Choi EC, Yoon SO
Head Neck Pathol 2018 Jun;12(2):237-243. Epub 2017 Nov 14 doi: 10.1007/s12105-017-0864-4. PMID: 29139086Free PMC Article

Therapy

Ewing-like sarcoma/undifferentiated round cell sarcoma in an infant with APC and MSH6 variation: A case report.
Xiong J, Zhu K, Mao J, Cai J, He M, Li L, Wang J, Wang L
Medicine (Baltimore) 2019 Nov;98(45):e17872. doi: 10.1097/MD.0000000000017872. PMID: 31702654Free PMC Article

Prognosis

Clinicopathological characteristics and outcomes of 23 patients with secretory carcinoma of major salivary glands.
Sun J, Liu S, Fu K, Gao N, Li R, He W, Gao Z
Sci Rep 2021 Nov 22;11(1):22639. doi: 10.1038/s41598-021-01970-4. PMID: 34811395Free PMC Article
Clinicopathologic and molecular characterization of mammary analogue secretory carcinoma of salivary gland origin.
Baghai F, Yazdani F, Etebarian A, Garajei A, Skalova A
Pathol Res Pract 2017 Sep;213(9):1112-1118. Epub 2017 Jul 23 doi: 10.1016/j.prp.2017.07.017. PMID: 28781197
Mammary analogue secretory carcinoma of salivary glands: a new entity associated with ETV6 gene rearrangement.
Majewska H, Skálová A, Stodulski D, Klimková A, Steiner P, Stankiewicz C, Biernat W
Virchows Arch 2015 Mar;466(3):245-54. Epub 2014 Dec 12 doi: 10.1007/s00428-014-1701-8. PMID: 25503077Free PMC Article
Mammary analogue secretory carcinoma of salivary glands with high-grade transformation: report of 3 cases with the ETV6-NTRK3 gene fusion and analysis of TP53, β-catenin, EGFR, and CCND1 genes.
Skálová A, Vanecek T, Majewska H, Laco J, Grossmann P, Simpson RH, Hauer L, Andrle P, Hosticka L, Branžovský J, Michal M
Am J Surg Pathol 2014 Jan;38(1):23-33. doi: 10.1097/PAS.0000000000000088. PMID: 24145651
Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia.
Zhou MH, Gao L, Jing Y, Xu YY, Ding Y, Wang N, Wang W, Li MY, Han XP, Sun JZ, Wang LL, Yu L
Ann Hematol 2012 Aug;91(8):1235-43. Epub 2012 Feb 29 doi: 10.1007/s00277-012-1431-4. PMID: 22373549

Clinical prediction guides

Secretory Carcinoma Of Salivary Gland: A Clincopathological Analysis.
Akhtar N, Atiq A, Loya A, Hassan U, Hussain M, Abu-Bakar M, Mushtaq S
J Ayub Med Coll Abbottabad 2020 Oct-Dec;32(4):481-486. PMID: 33225648
Clinicopathologic and molecular characterization of mammary analogue secretory carcinoma of salivary gland origin.
Baghai F, Yazdani F, Etebarian A, Garajei A, Skalova A
Pathol Res Pract 2017 Sep;213(9):1112-1118. Epub 2017 Jul 23 doi: 10.1016/j.prp.2017.07.017. PMID: 28781197
Mammaglobin and DOG-1 expression in polymorphous low-grade adenocarcinoma: an appraisal of its origin and morphology.
Montalli VA, Passador-Santos F, Martinez EF, Furuse C, Aguiar MC, Soares FA, Soares AB, Brown AL, de Araújo NS, de Araújo VC
J Oral Pathol Med 2017 Mar;46(3):182-187. Epub 2016 Sep 3 doi: 10.1111/jop.12491. PMID: 27591391
Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia.
Zhou MH, Gao L, Jing Y, Xu YY, Ding Y, Wang N, Wang W, Li MY, Han XP, Sun JZ, Wang LL, Yu L
Ann Hematol 2012 Aug;91(8):1235-43. Epub 2012 Feb 29 doi: 10.1007/s00277-012-1431-4. PMID: 22373549
Mammary analog secretory carcinoma of salivary gland origin with the ETV6 gene rearrangement by FISH: expanded morphologic and immunohistochemical spectrum of a recently described entity.
Connor A, Perez-Ordoñez B, Shago M, Skálová A, Weinreb I
Am J Surg Pathol 2012 Jan;36(1):27-34. doi: 10.1097/PAS.0b013e318231542a. PMID: 21989350

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