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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

Evaluation of the cytogenetic profile in patients with acute leukaemia.
Kulkarni NV, Shetty VV, Prasad Hl K, Arumugam M, Krishna R, Shetty RA, Kalal AA, Shetty DP
Pol J Pathol 2023;74(2):89-97. doi: 10.5114/pjp.2023.129425. PMID: 37728468
Comparative Molecular Genetics of Odontogenic Keratocysts in Sporadic and Syndromic Patients.
Ambele MA, Robinson L, van Heerden MB, Pepper MS, van Heerden WFP
Mod Pathol 2023 Jan;36(1):100002. doi: 10.1016/j.modpat.2022.100002. PMID: 36788060
Secondary cytogenetic abnormalities in core-binding factor AML harboring inv(16) vs t(8;21).
Han SY, Mrózek K, Voutsinas J, Wu Q, Morgan EA, Vestergaard H, Ohgami R, Kluin PM, Kristensen TK, Pullarkat S, Møller MB, Schiefer AI, Baughn LB, Kim Y, Czuchlewski D, Hilberink JR, Horny HP, George TI, Dolan M, Ku NK, Arana Yi C, Pullarkat V, Kohlschmidt J, Salhotra A, Soma L, Bloomfield CD, Chen D, Sperr WR, Marcucci G, Cho C, Akin C, Gotlib J, Broesby-Olsen S, Larson M, Linden MA, Deeg HJ, Hoermann G, Perales MA, Hornick JL, Litzow MR, Nakamura R, Weisdorf D, Borthakur G, Huls G, Valent P, Ustun C, Yeung CCS
Blood Adv 2021 May 25;5(10):2481-2489. doi: 10.1182/bloodadvances.2020003605. PMID: 34003250Free 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
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365

Diagnosis

Evaluation of the cytogenetic profile in patients with acute leukaemia.
Kulkarni NV, Shetty VV, Prasad Hl K, Arumugam M, Krishna R, Shetty RA, Kalal AA, Shetty DP
Pol J Pathol 2023;74(2):89-97. doi: 10.5114/pjp.2023.129425. PMID: 37728468
Comparative Molecular Genetics of Odontogenic Keratocysts in Sporadic and Syndromic Patients.
Ambele MA, Robinson L, van Heerden MB, Pepper MS, van Heerden WFP
Mod Pathol 2023 Jan;36(1):100002. doi: 10.1016/j.modpat.2022.100002. PMID: 36788060
Secondary cytogenetic abnormalities in core-binding factor AML harboring inv(16) vs t(8;21).
Han SY, Mrózek K, Voutsinas J, Wu Q, Morgan EA, Vestergaard H, Ohgami R, Kluin PM, Kristensen TK, Pullarkat S, Møller MB, Schiefer AI, Baughn LB, Kim Y, Czuchlewski D, Hilberink JR, Horny HP, George TI, Dolan M, Ku NK, Arana Yi C, Pullarkat V, Kohlschmidt J, Salhotra A, Soma L, Bloomfield CD, Chen D, Sperr WR, Marcucci G, Cho C, Akin C, Gotlib J, Broesby-Olsen S, Larson M, Linden MA, Deeg HJ, Hoermann G, Perales MA, Hornick JL, Litzow MR, Nakamura R, Weisdorf D, Borthakur G, Huls G, Valent P, Ustun C, Yeung CCS
Blood Adv 2021 May 25;5(10):2481-2489. doi: 10.1182/bloodadvances.2020003605. PMID: 34003250Free 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

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
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365
Chromosome analysis of nine osteosarcomas.
Hoogerwerf WA, Hawkins AL, Perlman EJ, Griffin CA
Genes Chromosomes Cancer 1994 Feb;9(2):88-92. doi: 10.1002/gcc.2870090203. PMID: 7513549
Clonal origin of bladder cancer.
Sidransky D, Frost P, Von Eschenbach A, Oyasu R, Preisinger AC, Vogelstein B
N Engl J Med 1992 Mar 12;326(11):737-40. doi: 10.1056/NEJM199203123261104. PMID: 1445507

Prognosis

Secondary cytogenetic abnormalities in core-binding factor AML harboring inv(16) vs t(8;21).
Han SY, Mrózek K, Voutsinas J, Wu Q, Morgan EA, Vestergaard H, Ohgami R, Kluin PM, Kristensen TK, Pullarkat S, Møller MB, Schiefer AI, Baughn LB, Kim Y, Czuchlewski D, Hilberink JR, Horny HP, George TI, Dolan M, Ku NK, Arana Yi C, Pullarkat V, Kohlschmidt J, Salhotra A, Soma L, Bloomfield CD, Chen D, Sperr WR, Marcucci G, Cho C, Akin C, Gotlib J, Broesby-Olsen S, Larson M, Linden MA, Deeg HJ, Hoermann G, Perales MA, Hornick JL, Litzow MR, Nakamura R, Weisdorf D, Borthakur G, Huls G, Valent P, Ustun C, Yeung CCS
Blood Adv 2021 May 25;5(10):2481-2489. doi: 10.1182/bloodadvances.2020003605. PMID: 34003250Free 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
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365
Molecular biology of colorectal cancer.
Gryfe R, Swallow C, Bapat B, Redston M, Gallinger S, Couture J
Curr Probl Cancer 1997 Sep-Oct;21(5):233-300. doi: 10.1016/s0147-0272(97)80003-7. PMID: 9438104
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

Clinical prediction guides

Comparative Molecular Genetics of Odontogenic Keratocysts in Sporadic and Syndromic Patients.
Ambele MA, Robinson L, van Heerden MB, Pepper MS, van Heerden WFP
Mod Pathol 2023 Jan;36(1):100002. doi: 10.1016/j.modpat.2022.100002. PMID: 36788060
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365
Molecular biology of colorectal cancer.
Gryfe R, Swallow C, Bapat B, Redston M, Gallinger S, Couture J
Curr Probl Cancer 1997 Sep-Oct;21(5):233-300. doi: 10.1016/s0147-0272(97)80003-7. PMID: 9438104
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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