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TSC1 Gene Rearrangement

MedGen UID:
1655623
•Concept ID:
C4727320
•
Cell or Molecular Dysfunction
Synonyms: Hamartin Gene Rearrangement; TSC Gene Rearrangement; TSC1 Rearrangement; Tuberous Sclerosis 1 Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the TSC1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTSC1 Gene Rearrangement

Recent clinical studies

Etiology

Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.
Demir S, Yalçıntepe S, Atlı E, Yalçın Y, İkbal Atlı E, Eker D, Karal Y, Gürkan H
Balkan Med J 2021 Nov;38(6):341-347. doi: 10.5152/balkanmedj.2021.21092. PMID: 34860161Free PMC Article
Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract.
Bennett JA, Oliva E
Genes Chromosomes Cancer 2021 Mar;60(3):168-179. Epub 2020 Nov 6 doi: 10.1002/gcc.22908. PMID: 33099813

Diagnosis

Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.
Demir S, Yalçıntepe S, Atlı E, Yalçın Y, İkbal Atlı E, Eker D, Karal Y, Gürkan H
Balkan Med J 2021 Nov;38(6):341-347. doi: 10.5152/balkanmedj.2021.21092. PMID: 34860161Free PMC Article
Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract.
Bennett JA, Oliva E
Genes Chromosomes Cancer 2021 Mar;60(3):168-179. Epub 2020 Nov 6 doi: 10.1002/gcc.22908. PMID: 33099813
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S
Ann Hum Genet 1998 May;62(Pt 3):203-13. doi: 10.1046/j.1469-1809.1998.6230203.x. PMID: 9803264
Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution.
Teh BT, Blennow E, Giraud S, Sahlén S, Hii SI, Brookwell R, Brauch H, Nordenskjöld M, Larsson C, Nicol D
Genes Chromosomes Cancer 1998 Mar;21(3):260-4. doi: 10.1002/(sici)1098-2264(199803)21:3<260::aid-gcc12>3.0.co;2-t. PMID: 9523203

Therapy

Targeting phosphoinositide 3-kinase: moving towards therapy.
Marone R, Cmiljanovic V, Giese B, Wymann MP
Biochim Biophys Acta 2008 Jan;1784(1):159-85. Epub 2007 Oct 12 doi: 10.1016/j.bbapap.2007.10.003. PMID: 17997386

Prognosis

Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract.
Bennett JA, Oliva E
Genes Chromosomes Cancer 2021 Mar;60(3):168-179. Epub 2020 Nov 6 doi: 10.1002/gcc.22908. PMID: 33099813
Expanding the histomorphologic spectrum of TFE3-rearranged perivascular epithelioid cell tumors.
Maloney N, Giannikou K, Lefferts J, Bridge JA, Linos K
Hum Pathol 2018 Dec;82:125-130. Epub 2018 Apr 4 doi: 10.1016/j.humpath.2018.03.023. PMID: 29626599
Genomic rearrangements in sporadic lymphangioleiomyomatosis: an evolving genetic story.
Murphy SJ, Terra SB, Harris FR, Nasir A, Voss JS, Smadbeck JB, Johnson SH, Serla V, Ryu JH, Yi ES, Kipp BR, Vasmatzis G, Carmona EM
Mod Pathol 2017 Sep;30(9):1223-1233. Epub 2017 Jun 23 doi: 10.1038/modpathol.2017.52. PMID: 28643793
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S
Ann Hum Genet 1998 May;62(Pt 3):203-13. doi: 10.1046/j.1469-1809.1998.6230203.x. PMID: 9803264

Clinical prediction guides

Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract.
Bennett JA, Oliva E
Genes Chromosomes Cancer 2021 Mar;60(3):168-179. Epub 2020 Nov 6 doi: 10.1002/gcc.22908. PMID: 33099813
Genomic rearrangements in sporadic lymphangioleiomyomatosis: an evolving genetic story.
Murphy SJ, Terra SB, Harris FR, Nasir A, Voss JS, Smadbeck JB, Johnson SH, Serla V, Ryu JH, Yi ES, Kipp BR, Vasmatzis G, Carmona EM
Mod Pathol 2017 Sep;30(9):1223-1233. Epub 2017 Jun 23 doi: 10.1038/modpathol.2017.52. PMID: 28643793
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S
Ann Hum Genet 1998 May;62(Pt 3):203-13. doi: 10.1046/j.1469-1809.1998.6230203.x. PMID: 9803264

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