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ETV Gene Rearrangement

MedGen UID:
1697578
•Concept ID:
C5205177
•
Cell or Molecular Dysfunction
Synonyms: Ets Variant Family Rearrangement; Ets Variant Gene Family Rearrangement; ETV Family Gene Rearrangement; ETV Family Rearrangement; ETV Rearrangement

Definition

A molecular abnormality indicating rearrangement of an ETV family gene. [from NCI]

Recent clinical studies

Etiology

Primary Secretory Carcinoma of the Lacrimal Gland: Report of a New Entity.
Hyrcza MD, Andreasen S, Melchior LC, Tucker T, Heegaard S, White VA
Am J Ophthalmol 2018 Sep;193:178-183. Epub 2018 Jun 28 doi: 10.1016/j.ajo.2018.06.019. PMID: 29963997
ETV transcriptional upregulation is more reliable than RNA sequencing algorithms and FISH in diagnosing round cell sarcomas with CIC gene rearrangements.
Kao YC, Sung YS, Chen CL, Zhang L, Dickson BC, Swanson D, Vaiyapuri S, Latif F, Alholle A, Huang SC, Hornick JL, Antonescu CR
Genes Chromosomes Cancer 2017 Jun;56(6):501-510. Epub 2017 Mar 31 doi: 10.1002/gcc.22454. PMID: 28233365Free PMC Article
Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia.
La Starza R, Aventin A, Matteucci C, Crescenzi B, Romoli S, Testoni N, Pierini V, Ciolli S, Sambani C, Locasciulli A, Di Bona E, Lafage-Pochitaloff M, Martelli MF, Marynen P, Mecucci C
Leukemia 2006 Jun;20(6):958-64. doi: 10.1038/sj.leu.2404208. PMID: 16617324

Diagnosis

Primary Secretory Carcinoma of the Lacrimal Gland: Report of a New Entity.
Hyrcza MD, Andreasen S, Melchior LC, Tucker T, Heegaard S, White VA
Am J Ophthalmol 2018 Sep;193:178-183. Epub 2018 Jun 28 doi: 10.1016/j.ajo.2018.06.019. PMID: 29963997
Mammary Analog Secretory Carcinoma With ETV6 Rearrangement Arising in the Conjunctiva and Eyelid.
Bao Y, Li J, Zhu Y
Am J Dermatopathol 2018 Jul;40(7):531-535. doi: 10.1097/DAD.0000000000001062. PMID: 29251639
ETV transcriptional upregulation is more reliable than RNA sequencing algorithms and FISH in diagnosing round cell sarcomas with CIC gene rearrangements.
Kao YC, Sung YS, Chen CL, Zhang L, Dickson BC, Swanson D, Vaiyapuri S, Latif F, Alholle A, Huang SC, Hornick JL, Antonescu CR
Genes Chromosomes Cancer 2017 Jun;56(6):501-510. Epub 2017 Mar 31 doi: 10.1002/gcc.22454. PMID: 28233365Free PMC Article
Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia.
La Starza R, Aventin A, Matteucci C, Crescenzi B, Romoli S, Testoni N, Pierini V, Ciolli S, Sambani C, Locasciulli A, Di Bona E, Lafage-Pochitaloff M, Martelli MF, Marynen P, Mecucci C
Leukemia 2006 Jun;20(6):958-64. doi: 10.1038/sj.leu.2404208. PMID: 16617324
Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia.
Hernández JM, del Cañizo MC, Cuneo A, García JL, Gutiérrez NC, González M, Castoldi G, San Miguel JF
Ann Oncol 2000 Apr;11(4):441-4. doi: 10.1023/a:1008393002748. PMID: 10847463

Prognosis

COMMD3:BMI1 Fusion and COMMD3 Protein Regulate C-MYC Transcription: Novel Therapeutic Target for Metastatic Prostate Cancer.
Umbreen S, Banday MM, Jamroze A, Mansini AP, Ganaie AA, Ferrari MG, Maqbool R, Beigh FH, Murugan P, Morrissey C, Corey E, Konety BR, Saleem M
Mol Cancer Ther 2019 Nov;18(11):2111-2123. Epub 2019 Aug 29 doi: 10.1158/1535-7163.MCT-19-0150. PMID: 31467179
Rearrangement of the ETS genes ETV-1, ETV-4, ETV-5, and ELK-4 is a clonal event during prostate cancer progression.
Alder D, Braun M, Nikolov P, Boehm D, Scheble V, Menon R, Fend F, Kristiansen G, Perner S, Wernert N
Hum Pathol 2012 Nov;43(11):1910-6. Epub 2012 May 7 doi: 10.1016/j.humpath.2012.01.018. PMID: 22569213
Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia.
Hernández JM, del Cañizo MC, Cuneo A, García JL, Gutiérrez NC, González M, Castoldi G, San Miguel JF
Ann Oncol 2000 Apr;11(4):441-4. doi: 10.1023/a:1008393002748. PMID: 10847463

Clinical prediction guides

Rearrangement of the ETS genes ETV-1, ETV-4, ETV-5, and ELK-4 is a clonal event during prostate cancer progression.
Alder D, Braun M, Nikolov P, Boehm D, Scheble V, Menon R, Fend F, Kristiansen G, Perner S, Wernert N
Hum Pathol 2012 Nov;43(11):1910-6. Epub 2012 May 7 doi: 10.1016/j.humpath.2012.01.018. PMID: 22569213
Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia.
Hernández JM, del Cañizo MC, Cuneo A, García JL, Gutiérrez NC, González M, Castoldi G, San Miguel JF
Ann Oncol 2000 Apr;11(4):441-4. doi: 10.1023/a:1008393002748. PMID: 10847463

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