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Rearrangement of 6q13

MedGen UID:
308127
•Concept ID:
C1514751
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRearrangement of 6q13

Recent clinical studies

Etiology

Heterogeneous and complex rearrangements of chromosome arm 6q in chondromyxoid fibroma: delineation of breakpoints and analysis of candidate target genes.
Romeo S, Duim RA, Bridge JA, Mertens F, de Jong D, Dal Cin P, Wijers-Koster PM, Debiec-Rychter M, Sciot R, Rosenberg AE, Szuhai K, Hogendoorn PC
Am J Pathol 2010 Sep;177(3):1365-76. Epub 2010 Aug 9 doi: 10.2353/ajpath.2010.091277. PMID: 20696777Free PMC Article
Karyotypic abnormalities and clinical aspects of patients with multiple myeloma and related paraproteinemic disorders.
Liang W, Hopper JE, Rowley JD
Cancer 1979 Aug;44(2):630-44. doi: 10.1002/1097-0142(197908)44:2<630::aid-cncr2820440233>3.0.co;2-g. PMID: 113076

Diagnosis

Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.
Xiao B, Luo X, Liu Y, Ye H, Liu H, Fan Y, Yu Y
Genome Med 2024 Sep 19;16(1):113. doi: 10.1186/s13073-024-01382-9. PMID: 39300495Free PMC Article
Genomic alterations of the JAK2 and PDL loci occur in a broad spectrum of lymphoid malignancies.
Van Roosbroeck K, Ferreiro JF, Tousseyn T, van der Krogt JA, Michaux L, Pienkowska-Grela B, Theate I, De Paepe P, Dierickx D, Doyen C, Put N, Cools J, Vandenberghe P, Wlodarska I
Genes Chromosomes Cancer 2016 May;55(5):428-41. Epub 2016 Feb 6 doi: 10.1002/gcc.22345. PMID: 26850007
Cytogenetic analysis of de novo CD5-positive diffuse large B-cell lymphoma.
Kaneko H, Shimura K, Horiike S, Kuroda J, Matsumoto Y, Yokota S, Nishida K, Ohkawara Y, Taniwaki M
Asia Pac J Clin Oncol 2011 Dec;7(4):346-50. doi: 10.1111/j.1743-7563.2011.01432.x. PMID: 22151983
Heterogeneous and complex rearrangements of chromosome arm 6q in chondromyxoid fibroma: delineation of breakpoints and analysis of candidate target genes.
Romeo S, Duim RA, Bridge JA, Mertens F, de Jong D, Dal Cin P, Wijers-Koster PM, Debiec-Rychter M, Sciot R, Rosenberg AE, Szuhai K, Hogendoorn PC
Am J Pathol 2010 Sep;177(3):1365-76. Epub 2010 Aug 9 doi: 10.2353/ajpath.2010.091277. PMID: 20696777Free PMC Article
The pericentromeric inversion, inv (6)(p25q13), is a novel diagnostic marker in chondromyxoid fibroma.
Granter SR, Renshaw AA, Kozakewich HP, Fletcher JA
Mod Pathol 1998 Nov;11(11):1071-4. PMID: 9831204

Therapy

Chromosome abnormalities in non-small cell lung cancer pleural effusions: cytogenetic indicators of disease subgroups.
Lukeis R, Ball D, Irving L, Garson OM, Hasthorpe S
Genes Chromosomes Cancer 1993 Dec;8(4):262-9. doi: 10.1002/gcc.2870080409. PMID: 7512370

Prognosis

Cytogenetic complexity and heterogeneity in intravascular lymphoma.
Fujikura K, Yamashita D, Yoshida M, Ishikawa T, Itoh T, Imai Y
J Clin Pathol 2021 Apr;74(4):244-250. Epub 2020 Aug 6 doi: 10.1136/jclinpath-2020-206573. PMID: 32763919

Clinical prediction guides

Cytogenetic complexity and heterogeneity in intravascular lymphoma.
Fujikura K, Yamashita D, Yoshida M, Ishikawa T, Itoh T, Imai Y
J Clin Pathol 2021 Apr;74(4):244-250. Epub 2020 Aug 6 doi: 10.1136/jclinpath-2020-206573. PMID: 32763919
Cytogenetic analysis of de novo CD5-positive diffuse large B-cell lymphoma.
Kaneko H, Shimura K, Horiike S, Kuroda J, Matsumoto Y, Yokota S, Nishida K, Ohkawara Y, Taniwaki M
Asia Pac J Clin Oncol 2011 Dec;7(4):346-50. doi: 10.1111/j.1743-7563.2011.01432.x. PMID: 22151983
Loss of heterozygosity on the long arm of chromosome 6 in breast cancer: possibly four regions of deletion.
Noviello C, Courjal F, Theillet C
Clin Cancer Res 1996 Sep;2(9):1601-6. PMID: 9816339
Clonal cytogenetic abnormalities in Hodgkin's disease.
Ladanyi M, Parsa NZ, Offit K, Wachtel MS, Filippa DA, Jhanwar SC
Genes Chromosomes Cancer 1991 Jul;3(4):294-9. doi: 10.1002/gcc.2870030408. PMID: 1958594
Karyotypic abnormalities and clinical aspects of patients with multiple myeloma and related paraproteinemic disorders.
Liang W, Hopper JE, Rowley JD
Cancer 1979 Aug;44(2):630-44. doi: 10.1002/1097-0142(197908)44:2<630::aid-cncr2820440233>3.0.co;2-g. PMID: 113076

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