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Loss of Chromosome 9q

MedGen UID:
309331
•Concept ID:
C1517995
•
Cell or Molecular Dysfunction
Synonym: del(9q)

Definition

A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 9 (9q). It is associated with the development of acute myeloid leukemia and various types of carcinomas. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Genome-wide high density single-nucleotide polymorphism array-based karyotyping improves detection of clonal aberrations including der(9) deletion, but does not predict treatment outcomes after imatinib therapy in chronic myeloid leukemia.
Huh J, Jung CW, Kim JW, Kim HJ, Kim SH, Shin MG, Kim YK, Kim HJ, Suh JS, Moon JH, Sohn SK, Nam GH, Lee JE, Kim DH
Ann Hematol 2011 Nov;90(11):1255-64. Epub 2011 Mar 8 doi: 10.1007/s00277-011-1195-2. PMID: 21384125
Genome-wide analysis of genetic alterations in testicular primary seminoma using high resolution single nucleotide polymorphism arrays.
LeBron C, Pal P, Brait M, Dasgupta S, Guerrero-Preston R, Looijenga LH, Kowalski J, Netto G, Hoque MO
Genomics 2011 Jun;97(6):341-9. Epub 2011 Mar 2 doi: 10.1016/j.ygeno.2011.02.011. PMID: 21376111
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

Cell-free DNA ultra-low-pass whole genome sequencing to distinguish malignant peripheral nerve sheath tumor (MPNST) from its benign precursor lesion: A cross-sectional study.
Szymanski JJ, Sundby RT, Jones PA, Srihari D, Earland N, Harris PK, Feng W, Qaium F, Lei H, Roberts D, Landeau M, Bell J, Huang Y, Hoffman L, Spencer M, Spraker MB, Ding L, Widemann BC, Shern JF, Hirbe AC, Chaudhuri AA
PLoS Med 2021 Aug;18(8):e1003734. Epub 2021 Aug 31 doi: 10.1371/journal.pmed.1003734. PMID: 34464388Free 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
Chromosomal alterations in squamous cell carcinomas of the head and neck: window to the biology of disease.
Gollin SM
Head Neck 2001 Mar;23(3):238-53. doi: 10.1002/1097-0347(200103)23:3<238::aid-hed1025>3.0.co;2-h. PMID: 11428456
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365
Frequent loss of chromosome arm 1p DNA in parathyroid adenomas.
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648

Diagnosis

Cell-free DNA ultra-low-pass whole genome sequencing to distinguish malignant peripheral nerve sheath tumor (MPNST) from its benign precursor lesion: A cross-sectional study.
Szymanski JJ, Sundby RT, Jones PA, Srihari D, Earland N, Harris PK, Feng W, Qaium F, Lei H, Roberts D, Landeau M, Bell J, Huang Y, Hoffman L, Spencer M, Spraker MB, Ding L, Widemann BC, Shern JF, Hirbe AC, Chaudhuri AA
PLoS Med 2021 Aug;18(8):e1003734. Epub 2021 Aug 31 doi: 10.1371/journal.pmed.1003734. PMID: 34464388Free PMC Article
Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jäger N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM
Nature 2020 Apr;580(7803):396-401. Epub 2020 Apr 1 doi: 10.1038/s41586-020-2164-5. PMID: 32296180Free 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
Loss of heterozygosity on chromosome 9q and p53 alterations in human bladder cancer.
Hirao S, Hirao T, Marsit CJ, Hirao Y, Schned A, Devi-Ashok T, Nelson HH, Andrew A, Karagas MR, Kelsey KT
Cancer 2005 Nov 1;104(9):1918-23. doi: 10.1002/cncr.21423. PMID: 16149093
Genetics of bladder cancer.
Saran KK, Gould D, Godec CJ, Verma RS
J Mol Med (Berl) 1996 Aug;74(8):441-5. doi: 10.1007/BF00217519. PMID: 8872857

Therapy

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
The random development of LOH on chromosome 9q in superficial bladder cancers.
van Tilborg AA, de Vries A, de Bont M, Groenfeld LE, Zwarthoff EC
J Pathol 2002 Nov;198(3):352-8. doi: 10.1002/path.1215. PMID: 12375268
High resolution chromosome 3p, 8p, 9q and 22q allelotyping analysis in the pathogenesis of gallbladder carcinoma.
Wistuba II, Maitra A, Carrasco R, Tang M, Troncoso P, Minna JD, Gazdar AF
Br J Cancer 2002 Aug 12;87(4):432-40. doi: 10.1038/sj.bjc.6600490. PMID: 12177780Free PMC Article
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365
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

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
Loss of heterozygosity on chromosome 9q and p53 alterations in human bladder cancer.
Hirao S, Hirao T, Marsit CJ, Hirao Y, Schned A, Devi-Ashok T, Nelson HH, Andrew A, Karagas MR, Kelsey KT
Cancer 2005 Nov 1;104(9):1918-23. doi: 10.1002/cncr.21423. PMID: 16149093
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365
Frequent loss of chromosome arm 1p DNA in parathyroid adenomas.
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648
Abnormalities of the short arm of chromosome 9 with partial loss of material in hematological disorders.
Pollak C, Hagemeijer A
Leukemia 1987 Jul;1(7):541-8. PMID: 3312844

Clinical prediction guides

Cell-free DNA ultra-low-pass whole genome sequencing to distinguish malignant peripheral nerve sheath tumor (MPNST) from its benign precursor lesion: A cross-sectional study.
Szymanski JJ, Sundby RT, Jones PA, Srihari D, Earland N, Harris PK, Feng W, Qaium F, Lei H, Roberts D, Landeau M, Bell J, Huang Y, Hoffman L, Spencer M, Spraker MB, Ding L, Widemann BC, Shern JF, Hirbe AC, Chaudhuri AA
PLoS Med 2021 Aug;18(8):e1003734. Epub 2021 Aug 31 doi: 10.1371/journal.pmed.1003734. PMID: 34464388Free PMC Article
Chromosomal alterations in squamous cell carcinomas of the head and neck: window to the biology of disease.
Gollin SM
Head Neck 2001 Mar;23(3):238-53. doi: 10.1002/1097-0347(200103)23:3<238::aid-hed1025>3.0.co;2-h. PMID: 11428456
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365
Genetics of bladder cancer.
Saran KK, Gould D, Godec CJ, Verma RS
J Mol Med (Berl) 1996 Aug;74(8):441-5. doi: 10.1007/BF00217519. PMID: 8872857
Frequent loss of chromosome arm 1p DNA in parathyroid adenomas.
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648

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