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Gain of Chromosome 9

MedGen UID:
274560
•Concept ID:
C1517424
•
Cell or Molecular Dysfunction

Definition

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

Term Hierarchy

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

Professional guidelines

PubMed

Proliferation is a central independent prognostic factor and target for personalized and risk-adapted treatment in multiple myeloma.
Hose D, Rème T, Hielscher T, Moreaux J, Messner T, Seckinger A, Benner A, Shaughnessy JD Jr, Barlogie B, Zhou Y, Hillengass J, Bertsch U, Neben K, Möhler T, Rossi JF, Jauch A, Klein B, Goldschmidt H
Haematologica 2011 Jan;96(1):87-95. Epub 2010 Sep 30 doi: 10.3324/haematol.2010.030296. PMID: 20884712Free PMC Article

Recent clinical studies

Etiology

Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
Preimplantation genetic testing for aneuploidy (PGT-A)-a single-center experience.
Nair J, Shetty S, Kasi CI, Thondehalmath N, Ganesh D, Bhat VR, Mannadia S, Ranganath A, Nayak R, Gunasheela D, Shetty S
J Assist Reprod Genet 2022 Mar;39(3):729-738. Epub 2022 Feb 4 doi: 10.1007/s10815-022-02413-3. PMID: 35119550Free PMC Article
Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.
Layalle S, They L, Ourghani S, Raoul C, Soustelle L
Int J Mol Sci 2021 Jan 18;22(2) doi: 10.3390/ijms22020904. PMID: 33477509Free PMC Article
Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion.
Babić Leko M, Župunski V, Kirincich J, Smilović D, Hortobágyi T, Hof PR, Šimić G
Behav Neurol 2019;2019:2909168. Epub 2019 Jan 15 doi: 10.1155/2019/2909168. PMID: 30774737Free PMC Article
Intratubular germ cell neoplasia of the testis: a brief review.
Al-Hussain T, Bakshi N, Akhtar M
Adv Anat Pathol 2015 May;22(3):202-12. doi: 10.1097/PAP.0000000000000066. PMID: 25844678

Diagnosis

Comprehensive molecular characterization of a rare case of Philadelphia chromosome-positive acute myeloid leukemia.
Rosenberg MW, Savage SL, Eide CA, Reister Schultz A, Cook RJ, Press RD, Rempfer C, Eickelberg G, Wilmot B, McWeeney SK, Tyner JW, Druker BJ, Tognon CE
Cold Spring Harb Mol Case Stud 2022 Oct;8(6) Epub 2022 Oct 28 doi: 10.1101/mcs.a006218. PMID: 36307214Free PMC Article
Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
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
Spermatocytic seminoma.
Aggarwal N, Parwani AV
Arch Pathol Lab Med 2009 Dec;133(12):1985-8. doi: 10.5858/133.12.1985. PMID: 19961257
Pathogenesis of testicular germ cell tumours.
Looijenga LH, Oosterhuis JW
Rev Reprod 1999 May;4(2):90-100. doi: 10.1530/ror.0.0040090. PMID: 10357096

Therapy

Comprehensive molecular characterization of a rare case of Philadelphia chromosome-positive acute myeloid leukemia.
Rosenberg MW, Savage SL, Eide CA, Reister Schultz A, Cook RJ, Press RD, Rempfer C, Eickelberg G, Wilmot B, McWeeney SK, Tyner JW, Druker BJ, Tognon CE
Cold Spring Harb Mol Case Stud 2022 Oct;8(6) Epub 2022 Oct 28 doi: 10.1101/mcs.a006218. PMID: 36307214Free PMC Article
Genome-Wide Somatic Alterations in Multiple Myeloma Reveal a Superior Outcome Group.
Samur MK, Aktas Samur A, Fulciniti M, Szalat R, Han T, Shammas M, Richardson P, Magrangeas F, Minvielle S, Corre J, Moreau P, Thakurta A, Anderson KC, Parmigiani G, Avet-Loiseau H, Munshi NC
J Clin Oncol 2020 Sep 20;38(27):3107-3118. Epub 2020 Jul 20 doi: 10.1200/JCO.20.00461. PMID: 32687451Free PMC Article
Immune checkpoint blockade as a potential therapeutic strategy for undifferentiated malignancies.
Devereaux KA, Charu V, Zhao S, Charville GW, Bangs CD, van de Rijn M, Cherry AM, Natkunam Y
Hum Pathol 2018 Dec;82:39-45. Epub 2018 Jul 7 doi: 10.1016/j.humpath.2018.06.034. PMID: 30539796
C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?
Mizielinska S, Isaacs AM
Curr Opin Neurol 2014 Oct;27(5):515-23. doi: 10.1097/WCO.0000000000000130. PMID: 25188012Free PMC Article
Chromosomal aneusomies detected by fluorescent in situ hybridization analysis in clinically localized prostate carcinoma.
Brown JA, Alcaraz A, Takahashi S, Persons DL, Lieber MM, Jenkins RB
J Urol 1994 Oct;152(4):1157-62. doi: 10.1016/s0022-5347(17)32527-2. PMID: 8072085

Prognosis

Comprehensive molecular characterization of a rare case of Philadelphia chromosome-positive acute myeloid leukemia.
Rosenberg MW, Savage SL, Eide CA, Reister Schultz A, Cook RJ, Press RD, Rempfer C, Eickelberg G, Wilmot B, McWeeney SK, Tyner JW, Druker BJ, Tognon CE
Cold Spring Harb Mol Case Stud 2022 Oct;8(6) Epub 2022 Oct 28 doi: 10.1101/mcs.a006218. PMID: 36307214Free PMC Article
Cytogenetics of spermatocytic tumors with a discussion of gain of chromosome 12p in anaplastic variants.
Gupta S, Farooq A, Rowsey RA, Rahman MA, Shen W, Herrera-Hernandez L, Raghunathan A, Thompson RH, Boorjian SA, Leibovich BC, Cheville JC, Jimenez RE
Hum Pathol 2022 Jun;124:85-95. Epub 2022 Apr 1 doi: 10.1016/j.humpath.2022.03.012. PMID: 35378115
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
Histological and molecular classification of chronic myeloproliferative disorders in the age of JAK2: persistence of old questions despite new answers.
Hussein K, Bock O, Kreipe H
Pathobiology 2007;74(2):72-80. doi: 10.1159/000099120. PMID: 17587878
Gain of 1q and loss of 9q21.3-q32 are associated with a less favorable prognosis in papillary thyroid carcinoma.
Kjellman P, Lagercrantz S, Höög A, Wallin G, Larsson C, Zedenius J
Genes Chromosomes Cancer 2001 Sep;32(1):43-9. doi: 10.1002/gcc.1165. PMID: 11477660

Clinical prediction guides

Determinants of mosaic chromosomal alteration fitness.
Pershad Y, Mack T, Poisner H, Jakubek YA, Stilp AM, Mitchell BD, Lewis JP, Boerwinkle E, Loos RJF, Chami N, Wang Z, Barnes K, Pankratz N, Fornage M, Redline S, Psaty BM, Bis JC, Shojaie A, Silverman EK, Cho MH, Yun JH, DeMeo D, Levy D, Johnson AD, Mathias RA, Taub MA, Arnett D, North KE, Raffield LM, Carson AP, Doyle MF, Rich SS, Rotter JI, Guo X, Cox NJ, Roden DM, Franceschini N, Desai P, Reiner AP, Auer PL, Scheet PA, Jaiswal S, Weinstock JS, Bick AG
Nat Commun 2024 May 7;15(1):3800. doi: 10.1038/s41467-024-48190-8. PMID: 38714703Free PMC Article
Preimplantation genetic testing for aneuploidy (PGT-A)-a single-center experience.
Nair J, Shetty S, Kasi CI, Thondehalmath N, Ganesh D, Bhat VR, Mannadia S, Ranganath A, Nayak R, Gunasheela D, Shetty S
J Assist Reprod Genet 2022 Mar;39(3):729-738. Epub 2022 Feb 4 doi: 10.1007/s10815-022-02413-3. PMID: 35119550Free PMC Article
Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.
Yoshikawa Y, Yamada Y, Emi M, Atanesyan L, Smout J, de Groot K, Savola S, Nakanishi-Shinkai Y, Kanematsu A, Nojima M, Ohmuraya M, Hashimoto-Tamaoki T, Yamamoto S
Cancer Sci 2022 Jan;113(1):297-307. Epub 2021 Nov 3 doi: 10.1111/cas.15170. PMID: 34687579Free PMC Article
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease.
Haeusler AR, Donnelly CJ, Rothstein JD
Nat Rev Neurosci 2016 Jun;17(6):383-95. Epub 2016 May 6 doi: 10.1038/nrn.2016.38. PMID: 27150398Free PMC Article
Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.
Todd TW, Petrucelli L
J Neurochem 2016 Aug;138 Suppl 1:145-62. Epub 2016 Jun 15 doi: 10.1111/jnc.13623. PMID: 27016280

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