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Chromosome Arm 1p Loss of Heterozygosity

MedGen UID:
1673975
•Concept ID:
C4763752
•
Cell or Molecular Dysfunction
Synonyms: 1p LOH; 1p Loss of Heterozygosity

Definition

A molecular abnormality that results in monoallelic loss of function mutations located within the short arm of chromosome 1 (1p). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome Arm 1p Loss of Heterozygosity

Professional guidelines

PubMed

Foundations of the Diagnosis and Management of Low-Grade Gliomas.
Norman S, Juthani RG, Magge R
World Neurosurg 2022 Oct;166:306-312. doi: 10.1016/j.wneu.2022.06.068. PMID: 36192862
Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.
Kjaergaard S, Sundberg K, Jørgensen FS, Rohde MD, Lind AM, Gerdes T, Tabor A, Kirchhoff M
Prenat Diagn 2010 Oct;30(10):995-9. doi: 10.1002/pd.2604. PMID: 20824892
The impact of genotype on outcome in oligodendroglioma: validation of the loss of chromosome arm 1p as an important factor in clinical decision making.
Kanner AA, Staugaitis SM, Castilla EA, Chernova O, Prayson RA, Vogelbaum MA, Stevens G, Peereboom D, Suh J, Lee SY, Tubbs RR, Barnett GH
J Neurosurg 2006 Apr;104(4):542-50. doi: 10.3171/jns.2006.104.4.542. PMID: 16619658

Recent clinical studies

Etiology

Allelic loss of 9p21.3 is a prognostic factor in 1p/19q codeleted anaplastic gliomas.
Alentorn A, Dehais C, Ducray F, Carpentier C, Mokhtari K, Figarella-Branger D, Chinot O, Cohen-Moyal E, Ramirez C, Loiseau H, Elouahdani-Hamdi S, Beauchesne P, Langlois O, Desenclos C, Guillamo JS, Dam-Hieu P, Ghiringhelli F, Colin P, Godard J, Parker F, Dhermain F, Carpentier AF, Frenel JS, Menei P, Bauchet L, Faillot T, Fesneau M, Fontaine D, Motuo-Fotso MJ, Vauleon E, Gaultier C, Le Guerinel C, Gueye EM, Noel G, Desse N, Durando X, Barrascout E, Wager M, Ricard D, Carpiuc I, Delattre JY, Idbaih A; POLA Network
Neurology 2015 Oct 13;85(15):1325-31. Epub 2015 Sep 18 doi: 10.1212/WNL.0000000000002014. PMID: 26385879Free PMC Article
Wilms tumor: an update.
Al-Hussain T, Ali A, Akhtar M
Adv Anat Pathol 2014 May;21(3):166-73. doi: 10.1097/PAP.0000000000000017. PMID: 24713986
Pathology and genetics of meningiomas.
Alahmadi H, Croul SE
Semin Diagn Pathol 2011 Nov;28(4):314-24. doi: 10.1053/j.semdp.2011.01.002. PMID: 22195409
Chromosome 1 abnormalities in multiple myeloma.
Marzin Y, Jamet D, Douet-Guilbert N, Morel F, Le Bris MJ, Morice P, Abgrall JF, Berthou C, De Braekeleer M
Anticancer Res 2006 Mar-Apr;26(2A):953-9. PMID: 16619492
Increased aneusomy and long arm deletion of chromosomes 5 and 7 in the lymphocytes of Chinese workers exposed to benzene.
Zhang L, Rothman N, Wang Y, Hayes RB, Li G, Dosemeci M, Yin S, Kolachana P, Titenko-Holland N, Smith MT
Carcinogenesis 1998 Nov;19(11):1955-61. doi: 10.1093/carcin/19.11.1955. PMID: 9855009

Diagnosis

Foundations of the Diagnosis and Management of Low-Grade Gliomas.
Norman S, Juthani RG, Magge R
World Neurosurg 2022 Oct;166:306-312. doi: 10.1016/j.wneu.2022.06.068. PMID: 36192862
Molecular background of oligodendroglioma: 1p/19q, IDH, TERT, CIC and FUBP1.
Cahill DP, Louis DN, Cairncross JG
CNS Oncol 2015;4(5):287-94. Epub 2015 Nov 6 doi: 10.2217/cns.15.32. PMID: 26545048Free PMC Article
Allelic loss of 9p21.3 is a prognostic factor in 1p/19q codeleted anaplastic gliomas.
Alentorn A, Dehais C, Ducray F, Carpentier C, Mokhtari K, Figarella-Branger D, Chinot O, Cohen-Moyal E, Ramirez C, Loiseau H, Elouahdani-Hamdi S, Beauchesne P, Langlois O, Desenclos C, Guillamo JS, Dam-Hieu P, Ghiringhelli F, Colin P, Godard J, Parker F, Dhermain F, Carpentier AF, Frenel JS, Menei P, Bauchet L, Faillot T, Fesneau M, Fontaine D, Motuo-Fotso MJ, Vauleon E, Gaultier C, Le Guerinel C, Gueye EM, Noel G, Desse N, Durando X, Barrascout E, Wager M, Ricard D, Carpiuc I, Delattre JY, Idbaih A; POLA Network
Neurology 2015 Oct 13;85(15):1325-31. Epub 2015 Sep 18 doi: 10.1212/WNL.0000000000002014. PMID: 26385879Free PMC Article
Clinicopathologic aspects of 1p/19q loss and the diagnosis of oligodendroglioma.
Aldape K, Burger PC, Perry A
Arch Pathol Lab Med 2007 Feb;131(2):242-51. doi: 10.5858/2007-131-242-CAOQLA. PMID: 17284109
Genetic parameters of neuroblastomas.
Westermann F, Schwab M
Cancer Lett 2002 Oct 28;184(2):127-47. doi: 10.1016/s0304-3835(02)00199-4. PMID: 12127685

Therapy

Chromosome 1 abnormalities in multiple myeloma.
Marzin Y, Jamet D, Douet-Guilbert N, Morel F, Le Bris MJ, Morice P, Abgrall JF, Berthou C, De Braekeleer M
Anticancer Res 2006 Mar-Apr;26(2A):953-9. PMID: 16619492
Genetic parameters of neuroblastomas.
Westermann F, Schwab M
Cancer Lett 2002 Oct 28;184(2):127-47. doi: 10.1016/s0304-3835(02)00199-4. PMID: 12127685
Analysis of genomic imprinting at 1p35-36 in neuroblastoma.
Hogarty MD, Maris JM, White PS, Guo C, Brodeur GM
Med Pediatr Oncol 2001 Jan;36(1):52-5. doi: 10.1002/1096-911X(20010101)36:1<52::AID-MPO1014>3.0.CO;2-8. PMID: 11464906
Loss of heterozygosity on chromosome 1 in human hepatoblastoma.
Kraus JA, Albrecht S, Wiestler OD, von Schweinitz D, Pietsch T
Int J Cancer 1996 Aug 7;67(4):467-71. doi: 10.1002/(SICI)1097-0215(19960807)67:4<467::AID-IJC1>3.0.CO;2-Q. PMID: 8759602
Neuroblastoma: the result of multistep transformation?
Tonini GP
Stem Cells 1993 Jul;11(4):276-82. doi: 10.1002/stem.5530110404. PMID: 8401251

Prognosis

Foundations of the Diagnosis and Management of Low-Grade Gliomas.
Norman S, Juthani RG, Magge R
World Neurosurg 2022 Oct;166:306-312. doi: 10.1016/j.wneu.2022.06.068. PMID: 36192862
Allelic loss of 9p21.3 is a prognostic factor in 1p/19q codeleted anaplastic gliomas.
Alentorn A, Dehais C, Ducray F, Carpentier C, Mokhtari K, Figarella-Branger D, Chinot O, Cohen-Moyal E, Ramirez C, Loiseau H, Elouahdani-Hamdi S, Beauchesne P, Langlois O, Desenclos C, Guillamo JS, Dam-Hieu P, Ghiringhelli F, Colin P, Godard J, Parker F, Dhermain F, Carpentier AF, Frenel JS, Menei P, Bauchet L, Faillot T, Fesneau M, Fontaine D, Motuo-Fotso MJ, Vauleon E, Gaultier C, Le Guerinel C, Gueye EM, Noel G, Desse N, Durando X, Barrascout E, Wager M, Ricard D, Carpiuc I, Delattre JY, Idbaih A; POLA Network
Neurology 2015 Oct 13;85(15):1325-31. Epub 2015 Sep 18 doi: 10.1212/WNL.0000000000002014. PMID: 26385879Free PMC Article
Wilms tumor: an update.
Al-Hussain T, Ali A, Akhtar M
Adv Anat Pathol 2014 May;21(3):166-73. doi: 10.1097/PAP.0000000000000017. PMID: 24713986
Genetic parameters of neuroblastomas.
Westermann F, Schwab M
Cancer Lett 2002 Oct 28;184(2):127-47. doi: 10.1016/s0304-3835(02)00199-4. PMID: 12127685
Neuroblastoma: the result of multistep transformation?
Tonini GP
Stem Cells 1993 Jul;11(4):276-82. doi: 10.1002/stem.5530110404. PMID: 8401251

Clinical prediction guides

Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma.
McAleenan A, Jones HE, Kernohan A, Robinson T, Schmidt L, Dawson S, Kelly C, Spencer Leal E, Faulkner CL, Palmer A, Wragg C, Jefferies S, Brandner S, Vale L, Higgins JP, Kurian KM
Cochrane Database Syst Rev 2022 Mar 2;3(3):CD013387. doi: 10.1002/14651858.CD013387.pub2. PMID: 35233774Free PMC Article
Characterization and gene expression profiling in glioma cell lines with deletion of chromosome 19 before and after microcell-mediated restoration of normal human chromosome 19.
Drucker KL, Kitange GJ, Kollmeyer TM, Law ME, Passe S, Rynearson AL, Blair H, Soderberg CL, Morlan BW, Ballman KV, Giannini C, Jenkins RB
Genes Chromosomes Cancer 2009 Oct;48(10):854-64. doi: 10.1002/gcc.20688. PMID: 19544381Free PMC Article
Frequent biallelic inactivation and transcriptional silencing of the DIRAS3 gene at 1p31 in oligodendroglial tumors with 1p loss.
Riemenschneider MJ, Reifenberger J, Reifenberger G
Int J Cancer 2008 Jun 1;122(11):2503-10. doi: 10.1002/ijc.23409. PMID: 18302158
Genetic parameters of neuroblastomas.
Westermann F, Schwab M
Cancer Lett 2002 Oct 28;184(2):127-47. doi: 10.1016/s0304-3835(02)00199-4. PMID: 12127685
Frequent allelic losses on the short arm of chromosome 1 and decreased expression of the p73 gene at 1p36.3 in squamous cell carcinoma of the oral cavity.
Araki D, Uzawa K, Watanabe T, Shiiba M, Miyakawa A, Yokoe H, Tanzawa H
Int J Oncol 2002 Feb;20(2):355-60. PMID: 11788901

Recent systematic reviews

Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma.
McAleenan A, Jones HE, Kernohan A, Robinson T, Schmidt L, Dawson S, Kelly C, Spencer Leal E, Faulkner CL, Palmer A, Wragg C, Jefferies S, Brandner S, Vale L, Higgins JP, Kurian KM
Cochrane Database Syst Rev 2022 Mar 2;3(3):CD013387. doi: 10.1002/14651858.CD013387.pub2. PMID: 35233774Free PMC Article

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