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Loss of Chromosome 18

MedGen UID:
309324
•Concept ID:
C1517967
•
Cell or Molecular Dysfunction
Synonym: del(18)

Definition

A cytogenetic abnormality that refers to loss of all or part of chromosome 18. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 18

Professional guidelines

PubMed

BCL2 and miR-15/16: from gene discovery to treatment.
Pekarsky Y, Balatti V, Croce CM
Cell Death Differ 2018 Jan;25(1):21-26. Epub 2017 Oct 6 doi: 10.1038/cdd.2017.159. PMID: 28984869Free PMC Article
Screening for Down syndrome--incidental diagnosis of other aneuploidies.
Davis C, Cuckle H, Yaron Y
Prenat Diagn 2014 Nov;34(11):1044-8. Epub 2014 Jun 11 doi: 10.1002/pd.4420. PMID: 24861197
Follicular lymphoma: 2014 update on diagnosis and management.
Freedman A
Am J Hematol 2014 Apr;89(4):429-36. doi: 10.1002/ajh.23674. PMID: 24687887

Recent clinical studies

Etiology

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18.
Cortezzo DE, Tolusso LK, Swarr DT
J Pediatr 2022 Aug;247:116-123.e5. Epub 2022 Apr 19 doi: 10.1016/j.jpeds.2022.04.010. PMID: 35452657
Molecular Mechanisms of Colon Cancer Progression and Metastasis: Recent Insights and Advancements.
Malki A, ElRuz RA, Gupta I, Allouch A, Vranic S, Al Moustafa AE
Int J Mol Sci 2020 Dec 24;22(1) doi: 10.3390/ijms22010130. PMID: 33374459Free PMC Article
Follicular lymphoma: 2014 update on diagnosis and management.
Freedman A
Am J Hematol 2014 Apr;89(4):429-36. doi: 10.1002/ajh.23674. PMID: 24687887
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Diagnosis

Patterns of chromosome 18 loss of heterozygosity in multifocal ileal neuroendocrine tumors.
Zhang Z, Mäkinen N, Kasai Y, Kim GE, Diosdado B, Nakakura E, Meyerson M
Genes Chromosomes Cancer 2020 Sep;59(9):535-539. Epub 2020 Apr 27 doi: 10.1002/gcc.22850. PMID: 32291827Free PMC Article
Consequences of chromsome18q deletions.
Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):265-80. Epub 2015 Aug 3 doi: 10.1002/ajmg.c.31446. PMID: 26235940
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Pitfalls in diagnosing brain death in infancy.
Toffol GJ, Lansky LL, Hughes JR, Blend MJ, Pavel DG, Kecskes SA, Ortega RE, Tan WS
J Child Neurol 1987 Apr;2(2):134-8. doi: 10.1177/088307388700200209. PMID: 3598141

Therapy

Loss of Chromosome 18q11.2-q12.1 Is Predictive for Survival in Patients With Metastatic Colorectal Cancer Treated With Bevacizumab.
van Dijk E, Biesma HD, Cordes M, Smeets D, Neerincx M, Das S, Eijk PP, Murphy V, Barat A, Bacon O, Prehn JHM, Betge J, Gaiser T, Fender B, Meijer GA, McNamara DA, Klinger R, Koopman M, Ebert MPA, Kay EW, Hennessey BT, Verheul HMW, Gallagher WM, O'Connor DP, Punt CJA, Loupakis F, Lambrechts D, Byrne AT, van Grieken NCT, Ylstra B
J Clin Oncol 2018 Jul 10;36(20):2052-2060. Epub 2018 May 24 doi: 10.1200/JCO.2017.77.1782. PMID: 29792754
BCL2 and miR-15/16: from gene discovery to treatment.
Pekarsky Y, Balatti V, Croce CM
Cell Death Differ 2018 Jan;25(1):21-26. Epub 2017 Oct 6 doi: 10.1038/cdd.2017.159. PMID: 28984869Free PMC Article
The spontaneous differentiation and chromosome loss in iPSCs of human trisomy 18 syndrome.
Li T, Zhao H, Han X, Yao J, Zhang L, Guo Y, Shao Z, Jin Y, Lai D
Cell Death Dis 2017 Oct 26;8(10):e3149. doi: 10.1038/cddis.2017.565. PMID: 29072700Free PMC Article
Follicular lymphoma: 2014 update on diagnosis and management.
Freedman A
Am J Hematol 2014 Apr;89(4):429-36. doi: 10.1002/ajh.23674. PMID: 24687887
Follicular lymphoma: 2012 update on diagnosis and management.
Freedman A
Am J Hematol 2012 Oct;87(10):988-95. doi: 10.1002/ajh.23313. PMID: 23001911

Prognosis

Chromosome 18 Loss of Heterozygosity in Small Intestinal Neuroendocrine Tumours: Multi-Omic and Tumour Composition Analyses.
Waterfield S, Yousefi P, Webster A, Relton C, Thirlwell C, Suderman M
Neuroendocrinology 2023;113(9):915-923. Epub 2023 Mar 10 doi: 10.1159/000530106. PMID: 36907174Free PMC Article
Consequences of chromsome18q deletions.
Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):265-80. Epub 2015 Aug 3 doi: 10.1002/ajmg.c.31446. PMID: 26235940
Features of two cases with 18q deletion syndrome.
Özsu E, Mutlu GY, Yüksel AB, Hatun Ş
J Clin Res Pediatr Endocrinol 2014;6(1):51-4. doi: 10.4274/Jcrpe.1183. PMID: 24637311Free PMC Article
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Clinical prediction guides

Multiomic sequencing of paired primary and metastatic small bowel carcinoids.
Postel MD, Darabi S, Howe JR, Liang WS, Craig DW, Demeure MJ
F1000Res 2023;12:417. Epub 2023 Oct 4 doi: 10.12688/f1000research.130251.2. PMID: 37954063Free PMC Article
Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18.
Cortezzo DE, Tolusso LK, Swarr DT
J Pediatr 2022 Aug;247:116-123.e5. Epub 2022 Apr 19 doi: 10.1016/j.jpeds.2022.04.010. PMID: 35452657
Factors affecting clinical manifestation of chromosomal imbalance in carriers of segmental autosomal mosaicism: differential impact of gender.
Kovaleva NV, Cotter PD
J Appl Genet 2022 May;63(2):281-291. Epub 2022 Jan 1 doi: 10.1007/s13353-021-00673-w. PMID: 34973130Free PMC Article
Follicular lymphoma: 2014 update on diagnosis and management.
Freedman A
Am J Hematol 2014 Apr;89(4):429-36. doi: 10.1002/ajh.23674. PMID: 24687887
A candidate tumor suppressor locus for scirrhous gastric cancer at chromosome 18q 12.2.
Nishioka N, Yashiro M, Inoue T, Matsuoka T, Ohira M, Chung KH
Int J Oncol 2001 Feb;18(2):317-22. PMID: 11172598

Recent systematic reviews

Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL
J Pediatr Ophthalmol Strabismus 2021 Nov-Dec;58(6):e44-e48. Epub 2021 Nov 1 doi: 10.3928/01913913-20210826-01. PMID: 34851787
Screening for Down syndrome--incidental diagnosis of other aneuploidies.
Davis C, Cuckle H, Yaron Y
Prenat Diagn 2014 Nov;34(11):1044-8. Epub 2014 Jun 11 doi: 10.1002/pd.4420. PMID: 24861197
A systematic review and meta-analysis of the relationship between chromosome 18q genotype, DCC status and colorectal cancer prognosis.
Popat S, Houlston RS
Eur J Cancer 2005 Sep;41(14):2060-70. doi: 10.1016/j.ejca.2005.04.039. PMID: 16125380

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