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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 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
Malignant transformation of human melanocytes: induction of a complete melanoma phenotype and genotype.
Albino AP, Sozzi G, Nanus DM, Jhanwar SC, Houghton AN
Oncogene 1992 Nov;7(11):2315-21. PMID: 1437153

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
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
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

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
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
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

Therapy

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
Role of loss of heterozygosity on chromosomes 8 and 9 in the development and progression of cancer bladder.
Abdel Wahab AH, Abo-Zeid HI, El-Husseini MI, Ismail M, El-Khor AM
J Egypt Natl Canc Inst 2005 Dec;17(4):260-9. PMID: 17102820
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

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
Genetic alterations in gallbladder carcinoma.
Kuroki T, Tajima Y, Matsuo K, Kanematsu T
Surg Today 2005;35(2):101-5. doi: 10.1007/s00595-004-2906-2. PMID: 15674488
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

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
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
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

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