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Gain of Chromosome 9q

MedGen UID:
274561
•Concept ID:
C1517426
•
Cell or Molecular Dysfunction

Definition

A cytogenetic abnormality that refers to allelic gain of all or part of the chromosomal arm 9q. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGain of Chromosome 9q

Professional guidelines

PubMed

Clinical Impact of Additional Cytogenetic Aberrations, cKIT and RAS Mutations, and Treatment Elements in Pediatric t(8;21)-AML: Results From an International Retrospective Study by the International Berlin-Frankfurt-Münster Study Group.
Klein K, Kaspers G, Harrison CJ, Beverloo HB, Reedijk A, Bongers M, Cloos J, Pession A, Reinhardt D, Zimmerman M, Creutzig U, Dworzak M, Alonzo T, Johnston D, Hirsch B, Zapotocky M, De Moerloose B, Fynn A, Lee V, Taga T, Tawa A, Auvrignon A, Zeller B, Forestier E, Salgado C, Balwierz W, Popa A, Rubnitz J, Raimondi S, Gibson B
J Clin Oncol 2015 Dec 20;33(36):4247-58. Epub 2015 Nov 16 doi: 10.1200/JCO.2015.61.1947. PMID: 26573082Free PMC Article
Copy number variations could predict the outcome of bortezomib plus melphalan and prednisone for initial treatment of multiple myeloma.
Kim M, Lee SH, Kim J, Lee SE, Kim YJ, Min CK
Genes Chromosomes Cancer 2015 Jan;54(1):20-7. Epub 2014 Aug 21 doi: 10.1002/gcc.22213. PMID: 25145975
Molecular cytogenetic analysis of prostatic adenocarcinomas from screening studies : early cancers may contain aggressive genetic features.
Alers JC, Krijtenburg PJ, Vis AN, Hoedemaeker RF, Wildhagen MF, Hop WC, van Der Kwast TT, Schröder FH, Tanke HJ, van Dekken H
Am J Pathol 2001 Feb;158(2):399-406. doi: 10.1016/s0002-9440(10)63983-1. PMID: 11159178Free PMC Article

Recent clinical studies

Etiology

Comparison of Clinical, Histopathological, and Genomic Features Between Malignant Peripheral Nerve Sheath Tumors and Cellular Schwannomas of the Eighth Cranial Nerve: A Case Series.
Zhao F, Zhang S, Du J, Chen Y, Wang B, Zhang J, He Q, Lin L, Zhang L, Yu Y, Liu P
World Neurosurg 2019 Feb;122:e487-e497. Epub 2018 Oct 23 doi: 10.1016/j.wneu.2018.10.087. PMID: 30366145
Chromosome 1q gain and tenascin-C expression are candidate markers to define different risk groups in pediatric posterior fossa ependymoma.
Araki A, Chocholous M, Gojo J, Dorfer C, Czech T, Heinzl H, Dieckmann K, Ambros IM, Ambros PF, Slavc I, Haberler C
Acta Neuropathol Commun 2016 Aug 22;4(1):88. doi: 10.1186/s40478-016-0349-9. PMID: 27550150Free PMC Article
PRAME as an Independent Biomarker for Metastasis in Uveal Melanoma.
Field MG, Decatur CL, Kurtenbach S, Gezgin G, van der Velden PA, Jager MJ, Kozak KN, Harbour JW
Clin Cancer Res 2016 Mar 1;22(5):1234-42. doi: 10.1158/1078-0432.CCR-15-2071. PMID: 26933176Free PMC Article
Medulloblastomas in adults: prognostic factors and lessons from paediatrics.
Fellay CN, Frappaz D, Sunyach MP, Franceschi E, Brandes AA, Stupp R
Curr Opin Neurol 2011 Dec;24(6):626-32. doi: 10.1097/WCO.0b013e32834cd4b1. PMID: 22027544
Molecular alterations associated with bladder cancer initiation and progression.
Cordon-Cardo C
Scand J Urol Nephrol Suppl 2008 Sep;(218):154-65. doi: 10.1080/03008880802291915. PMID: 18815930

Diagnosis

De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome.
Amarillo IE, O'Connor S, Lee CK, Willing M, Wambach JA
Am J Med Genet A 2015 Dec;167A(12):2966-74. Epub 2015 Aug 19 doi: 10.1002/ajmg.a.37296. PMID: 26768185Free PMC Article
Cytogenetics of melanoma and nonmelanoma skin cancer.
Carless MA, Griffiths LR
Adv Exp Med Biol 2014;810:160-81. doi: 10.1007/978-1-4939-0437-2_9. PMID: 25207365
Molecular analysis of diffuse intrinsic brainstem gliomas in adults.
Reyes-Botero G, Giry M, Mokhtari K, Labussière M, Idbaih A, Delattre JY, Laigle-Donadey F, Sanson M
J Neurooncol 2014 Jan;116(2):405-11. Epub 2013 Nov 17 doi: 10.1007/s11060-013-1312-2. PMID: 24242757
Molecular pathways of urothelial development and bladder tumorigenesis.
Castillo-Martin M, Domingo-Domenech J, Karni-Schmidt O, Matos T, Cordon-Cardo C
Urol Oncol 2010 Jul-Aug;28(4):401-8. doi: 10.1016/j.urolonc.2009.04.019. PMID: 20610278
Molecular alterations associated with bladder cancer initiation and progression.
Cordon-Cardo C
Scand J Urol Nephrol Suppl 2008 Sep;(218):154-65. doi: 10.1080/03008880802291915. PMID: 18815930

Therapy

Clinical Impact of Additional Cytogenetic Aberrations, cKIT and RAS Mutations, and Treatment Elements in Pediatric t(8;21)-AML: Results From an International Retrospective Study by the International Berlin-Frankfurt-Münster Study Group.
Klein K, Kaspers G, Harrison CJ, Beverloo HB, Reedijk A, Bongers M, Cloos J, Pession A, Reinhardt D, Zimmerman M, Creutzig U, Dworzak M, Alonzo T, Johnston D, Hirsch B, Zapotocky M, De Moerloose B, Fynn A, Lee V, Taga T, Tawa A, Auvrignon A, Zeller B, Forestier E, Salgado C, Balwierz W, Popa A, Rubnitz J, Raimondi S, Gibson B
J Clin Oncol 2015 Dec 20;33(36):4247-58. Epub 2015 Nov 16 doi: 10.1200/JCO.2015.61.1947. PMID: 26573082Free PMC Article
Copy number variations could predict the outcome of bortezomib plus melphalan and prednisone for initial treatment of multiple myeloma.
Kim M, Lee SH, Kim J, Lee SE, Kim YJ, Min CK
Genes Chromosomes Cancer 2015 Jan;54(1):20-7. Epub 2014 Aug 21 doi: 10.1002/gcc.22213. PMID: 25145975
Biological and clinical heterogeneity of MYCN-amplified medulloblastoma.
Korshunov A, Remke M, Kool M, Hielscher T, Northcott PA, Williamson D, Pfaff E, Witt H, Jones DT, Ryzhova M, Cho YJ, Wittmann A, Benner A, Weiss WA, von Deimling A, Scheurlen W, Kulozik AE, Clifford SC, Peter Collins V, Westermann F, Taylor MD, Lichter P, Pfister SM
Acta Neuropathol 2012 Apr;123(4):515-27. Epub 2011 Dec 9 doi: 10.1007/s00401-011-0918-8. PMID: 22160402
Medulloblastomas in adults: prognostic factors and lessons from paediatrics.
Fellay CN, Frappaz D, Sunyach MP, Franceschi E, Brandes AA, Stupp R
Curr Opin Neurol 2011 Dec;24(6):626-32. doi: 10.1097/WCO.0b013e32834cd4b1. PMID: 22027544
Cytogenetic studies in prostate cancer: are we making progress?
Brothman AR
Cancer Genet Cytogenet 1997 May;95(1):116-21. doi: 10.1016/s0165-4608(96)00302-0. PMID: 9140461

Prognosis

Chromosome 1q gain and tenascin-C expression are candidate markers to define different risk groups in pediatric posterior fossa ependymoma.
Araki A, Chocholous M, Gojo J, Dorfer C, Czech T, Heinzl H, Dieckmann K, Ambros IM, Ambros PF, Slavc I, Haberler C
Acta Neuropathol Commun 2016 Aug 22;4(1):88. doi: 10.1186/s40478-016-0349-9. PMID: 27550150Free PMC Article
PRAME as an Independent Biomarker for Metastasis in Uveal Melanoma.
Field MG, Decatur CL, Kurtenbach S, Gezgin G, van der Velden PA, Jager MJ, Kozak KN, Harbour JW
Clin Cancer Res 2016 Mar 1;22(5):1234-42. doi: 10.1158/1078-0432.CCR-15-2071. PMID: 26933176Free PMC Article
Study of chromosome 9q gain, Notch pathway regulators and Tenascin-C in ependymomas.
Gupta RK, Sharma MC, Suri V, Kakkar A, Singh M, Sarkar C
J Neurooncol 2014 Jan;116(2):267-74. Epub 2013 Nov 1 doi: 10.1007/s11060-013-1287-z. PMID: 24178439
Medulloblastomas in adults: prognostic factors and lessons from paediatrics.
Fellay CN, Frappaz D, Sunyach MP, Franceschi E, Brandes AA, Stupp R
Curr Opin Neurol 2011 Dec;24(6):626-32. doi: 10.1097/WCO.0b013e32834cd4b1. PMID: 22027544
Single-copy gain of chromosome 1q is a negative prognostic marker in pediatric nonependymal, nonpilocytic gliomas.
Miwa T, Hirose Y, Sasaki H, Ezaki T, Yoshida K, Kawase T
Neurosurgery 2011 Jan;68(1):206-12. doi: 10.1227/NEU.0b013e3181fd2c2e. PMID: 21099717

Clinical prediction guides

Chromosome 1q gain and tenascin-C expression are candidate markers to define different risk groups in pediatric posterior fossa ependymoma.
Araki A, Chocholous M, Gojo J, Dorfer C, Czech T, Heinzl H, Dieckmann K, Ambros IM, Ambros PF, Slavc I, Haberler C
Acta Neuropathol Commun 2016 Aug 22;4(1):88. doi: 10.1186/s40478-016-0349-9. PMID: 27550150Free PMC Article
PRAME as an Independent Biomarker for Metastasis in Uveal Melanoma.
Field MG, Decatur CL, Kurtenbach S, Gezgin G, van der Velden PA, Jager MJ, Kozak KN, Harbour JW
Clin Cancer Res 2016 Mar 1;22(5):1234-42. doi: 10.1158/1078-0432.CCR-15-2071. PMID: 26933176Free PMC Article
Single-copy gain of chromosome 1q is a negative prognostic marker in pediatric nonependymal, nonpilocytic gliomas.
Miwa T, Hirose Y, Sasaki H, Ezaki T, Yoshida K, Kawase T
Neurosurgery 2011 Jan;68(1):206-12. doi: 10.1227/NEU.0b013e3181fd2c2e. PMID: 21099717
Cytogenetic characterization of tumors of the vulva and vagina.
Micci F, Teixeira MR, Scheistrøen M, Abeler VM, Heim S
Genes Chromosomes Cancer 2003 Oct;38(2):137-48. doi: 10.1002/gcc.10263. PMID: 12939741
Gain of 9p in the pathogenesis of polycythemia vera.
Chen Z, Notohamiprodjo M, Guan XY, Paietta E, Blackwell S, Stout K, Turner A, Richkind K, Trent JM, Lamb A, Sandberg AA
Genes Chromosomes Cancer 1998 Aug;22(4):321-4. doi: 10.1002/(sici)1098-2264(199808)22:4<321::aid-gcc8>3.0.co;2-x. PMID: 9669670

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