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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

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
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
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--clinical applications of molecular parameters.
Brodeur GM
Brain Pathol 1990 Sep;1(1):47-54. doi: 10.1111/j.1750-3639.1990.tb00638.x. PMID: 1669693

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
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
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
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

Prognostic value of 1p deletion for multiple myeloma: a meta-analysis.
Ouyang J, Gou X, Ma Y, Huang Q, Jiang T
Int J Lab Hematol 2014 Oct;36(5):555-65. Epub 2014 Jan 27 doi: 10.1111/ijlh.12189. PMID: 24460694
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
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
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
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

Clinical prediction guides

Utility of targeted next-generation sequencing assay to detect 1p/19q co-deletion in formalin-fixed paraffin-embedded glioma specimens.
Pallavajjala A, Haley L, Stinnett V, Adams E, Pallavajjala R, Huang J, Morsberger L, Hardy M, Long P, Gocke CD, Eshleman JR, Rodriguez FJ, Zou YS
Hum Pathol 2022 Aug;126:63-76. Epub 2022 May 10 doi: 10.1016/j.humpath.2022.05.001. PMID: 35561840
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
Genomic profiling of CHEK2*1100delC-mutated breast carcinomas.
Massink MP, Kooi IE, Martens JW, Waisfisz Q, Meijers-Heijboer H
BMC Cancer 2015 Nov 9;15:877. doi: 10.1186/s12885-015-1880-y. PMID: 26553136Free PMC Article
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
Deletion of chromosome 11 and of 14q sequences in neuroblastoma.
Srivatsan ES, Ying KL, Seeger RC
Genes Chromosomes Cancer 1993 May;7(1):32-7. doi: 10.1002/gcc.2870070106. PMID: 7688553

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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