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Loss of Chromosome 2q

MedGen UID:
273499
•Concept ID:
C1517979
•
Cell or Molecular Dysfunction
Synonym: del(2q)

Definition

A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 2 (2q). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 2q

Professional guidelines

PubMed

Genetic gains and losses in oral squamous cell carcinoma: impact on clinical management.
Ribeiro IP, Marques F, Caramelo F, Pereira J, Patrício M, Prazeres H, Ferrão J, Julião MJ, Castelo-Branco M, de Melo JB, Baptista IP, Carreira IM
Cell Oncol (Dordr) 2014 Feb;37(1):29-39. Epub 2013 Dec 19 doi: 10.1007/s13402-013-0161-5. PMID: 24353162
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
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Recent clinical studies

Etiology

A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia.
Yang F, Akkari Y, Fan G, Olson S, Moore S
Cancer Genet 2022 Aug;266-267:69-73. Epub 2022 Jul 2 doi: 10.1016/j.cancergen.2022.07.001. PMID: 35802949
Copy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors.
Lourenço N, Hélias-Rodzewicz Z, Bachet JB, Brahimi-Adouane S, Jardin F, Tran van Nhieu J, Peschaud F, Martin E, Beauchet A, Chibon F, Emile JF
Mol Cancer 2014 Nov 6;13:246. doi: 10.1186/1476-4598-13-246. PMID: 25373456Free PMC Article
Genetic profile of head and neck squamous cell carcinoma: clinical implications.
Agada FO, Patmore H, Alhamarneh O, Stafford ND, Greenman J
J Laryngol Otol 2009 Mar;123(3):266-72. Epub 2008 Aug 11 doi: 10.1017/S0022215108003320. PMID: 18694533
Chromosomal gain of 3q and loss of 11q often associated with nodal metastasis in early stage cervical squamous cell carcinoma.
Huang KF, Lee WY, Huang SC, Lin YS, Kang CY, Liou CP, Tzeng CC
J Formos Med Assoc 2007 Nov;106(11):894-902. doi: 10.1016/S0929-6646(08)60059-5. PMID: 18063510
Loss of heterozygosity in neuroblastomas--an overview.
Takita J, Hayashi Y, Yokota J
Eur J Cancer 1997 Oct;33(12):1971-3. doi: 10.1016/s0959-8049(97)00292-x. PMID: 9516835

Diagnosis

Cytogenetic and Molecular Study of an Adult Sclerosing Rhabdomyosarcoma of the Extremity: MYOD1-mutation and Clonal Evolution.
Gorunova L, Bjerkehagen B, Micci F, Heim S, Panagopoulos I
Cancer Genomics Proteomics 2020 Sep-Oct;17(5):563-569. doi: 10.21873/cgp.20212. PMID: 32859634Free PMC Article
Genetic profile of head and neck squamous cell carcinoma: clinical implications.
Agada FO, Patmore H, Alhamarneh O, Stafford ND, Greenman J
J Laryngol Otol 2009 Mar;123(3):266-72. Epub 2008 Aug 11 doi: 10.1017/S0022215108003320. PMID: 18694533
Loss of heterozygosity and its correlation with clinical outcome and Epstein-Barr virus infection in nasopharyngeal carcinoma.
Shao JY, Huang XM, Yu XJ, Huang LX, Wu QL, Xia JC, Wang HY, Feng QS, Ren ZF, Ernberg I, Hu LF, Zeng YX
Anticancer Res 2001 Jul-Aug;21(4B):3021-9. PMID: 11712805
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
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Therapy

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
Deletions at chromosome 2q and 12p are early and frequent molecular alterations in bronchial epithelium and NSCLC of long-term smokers.
Grepmeier U, Dietmaier W, Merk J, Wild PJ, Obermann EC, Pfeifer M, Hofstaedter F, Hartmann A, Woenckhaus M
Int J Oncol 2005 Aug;27(2):481-8. PMID: 16010431
Pooled analysis of loss of heterozygosity in breast cancer: a genome scan provides comparative evidence for multiple tumor suppressors and identifies novel candidate regions.
Miller BJ, Wang D, Krahe R, Wright FA
Am J Hum Genet 2003 Oct;73(4):748-67. Epub 2003 Sep 16 doi: 10.1086/378522. PMID: 13680524Free PMC Article
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
2q-, a non-random chromosomal abnormality in human non-small-cell lung cancer.
Lu YJ, Dong XY, Guo SP, Zhang RG, Ke Y, Zhang LZ, Xu LH, Cheng SJ
Carcinogenesis 1996 Aug;17(8):1589-93. doi: 10.1093/carcin/17.8.1589. PMID: 8761414

Prognosis

Loss of heterozygosity and copy number alterations in flow-sorted bulky cervical cancer.
van den Tillaart SA, Corver WE, Ruano Neto D, ter Haar NT, Goeman JJ, Trimbos JB, Fleuren GJ, Oosting J
PLoS One 2013;8(7):e67414. Epub 2013 Jul 9 doi: 10.1371/journal.pone.0067414. PMID: 23874418Free PMC Article
Cytogenetics of hepatoblastoma.
Tomlinson GE
Front Biosci (Elite Ed) 2012 Jan 1;4(4):1287-92. doi: 10.2741/459. PMID: 22201954
Genetic profile of head and neck squamous cell carcinoma: clinical implications.
Agada FO, Patmore H, Alhamarneh O, Stafford ND, Greenman J
J Laryngol Otol 2009 Mar;123(3):266-72. Epub 2008 Aug 11 doi: 10.1017/S0022215108003320. PMID: 18694533
Loss of heterozygosity on chromosome 2q: possibly a poor prognostic factor in head and neck cancer.
Ransom DT, Barnett TC, Bot J, de Boer B, Metcalf C, Davidson JA, Turbett GR
Head Neck 1998 Aug;20(5):404-10. doi: 10.1002/(sici)1097-0347(199808)20:5<404::aid-hed8>3.0.co;2-1. PMID: 9663668
Loss of heterozygosity in neuroblastomas--an overview.
Takita J, Hayashi Y, Yokota J
Eur J Cancer 1997 Oct;33(12):1971-3. doi: 10.1016/s0959-8049(97)00292-x. PMID: 9516835

Clinical prediction guides

Cytogenetics of hepatoblastoma.
Tomlinson GE
Front Biosci (Elite Ed) 2012 Jan 1;4(4):1287-92. doi: 10.2741/459. PMID: 22201954
Allelic imbalance on chromosome 2q and alterations of the caspase 8 gene in neuroblastoma.
Takita J, Yang HW, Chen YY, Hanada R, Yamamoto K, Teitz T, Kidd V, Hayashi Y
Oncogene 2001 Jul 19;20(32):4424-32. doi: 10.1038/sj.onc.1204521. PMID: 11466626
Loss of heterozygosity during the development and progression of differentiated adenocarcinoma of the stomach.
Nishizuka S, Tamura G, Terashima M, Satodate R
J Pathol 1998 May;185(1):38-43. doi: 10.1002/(SICI)1096-9896(199805)185:1<38::AID-PATH58>3.0.CO;2-T. PMID: 9713358
Loss of heterozygosity in neuroblastomas--an overview.
Takita J, Hayashi Y, Yokota J
Eur J Cancer 1997 Oct;33(12):1971-3. doi: 10.1016/s0959-8049(97)00292-x. PMID: 9516835
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

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