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Partial deletion of chromosome 8

MedGen UID:
1825961
•Concept ID:
C5679652
•
Cell or Molecular Dysfunction
Synonyms: partial deletion of chromosome 8; partial deletion of chromosome type 8; Partial monosomy of chromosome 8; partial monosomy of chromosome 8
 
Monarch Initiative: MONDO:0016873
Orphanet: ORPHA261801

Recent clinical studies

Etiology

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.
Cicenia M, Alesi V, Orlando V, Magliozzi M, Di Tommaso S, Iodice FG, Pompei E, Toscano A, Digilio MC, Drago F, Novelli A, Baban A
Am J Med Genet A 2022 Mar;188(3):883-895. Epub 2021 Dec 13 doi: 10.1002/ajmg.a.62598. PMID: 34897976
Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.
Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Wang W
Taiwan J Obstet Gynecol 2021 Jul;60(4):775-777. doi: 10.1016/j.tjog.2021.05.034. PMID: 34247824
Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.
de Wergifosse S, Bevilacqua E, Mezela I, El Haddad S, Gounongbe C, de Marchin J, Maggi V, Conotte S, Badr DA, Fils JF, Guizani M, Jani JC
J Matern Fetal Neonatal Med 2021 Nov;34(21):3552-3561. Epub 2019 Nov 13 doi: 10.1080/14767058.2019.1686478. PMID: 31722585
Hepatitis B virus infection is associated with deletion of chromosome 8p in multiple myeloma.
Becker N, Byl A, Friedrich S, Jauch A, Schnitzler P, Egerer G, Ho AD, Goldschmidt H, Neben K
Eur J Haematol 2013 Apr;90(4):279-85. Epub 2012 Nov 22 doi: 10.1111/ejh.12018. PMID: 23033960
Genetic lesions in preleukemia.
Carter G, Ridge S, Padua RA
Crit Rev Oncog 1992;3(4):339-64. PMID: 1420444

Diagnosis

Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.
de Wergifosse S, Bevilacqua E, Mezela I, El Haddad S, Gounongbe C, de Marchin J, Maggi V, Conotte S, Badr DA, Fils JF, Guizani M, Jani JC
J Matern Fetal Neonatal Med 2021 Nov;34(21):3552-3561. Epub 2019 Nov 13 doi: 10.1080/14767058.2019.1686478. PMID: 31722585
Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M
Am J Med Genet A 2020 Nov;182(11):2680-2684. Epub 2020 Aug 16 doi: 10.1002/ajmg.a.61804. PMID: 32803851
Cytogenetic and molecular aspects of Philadelphia negative chronic myeloproliferative disorders: clinical implications.
Panani AD
Cancer Lett 2007 Sep 18;255(1):12-25. Epub 2007 Mar 23 doi: 10.1016/j.canlet.2007.02.009. PMID: 17383090
Oxaliplatin-related acute myelogenous leukemia.
Carneiro BA, Kaminer L, Eldibany M, Sreekantaiah C, Kaul K, Locker GY
Oncologist 2006 Mar;11(3):261-2. doi: 10.1634/theoncologist.11-3-261. PMID: 16549810
Karyotype and molecular cytogenetic studies in polycythemia vera.
Andrieux JL, Demory JL
Curr Hematol Rep 2005 May;4(3):224-9. PMID: 15865876

Therapy

Deletion of Chromosomal Region 8p21 Confers Resistance to Bortezomib and Is Associated with Upregulated Decoy TRAIL Receptor Expression in Patients with Multiple Myeloma.
Duru AD, Sutlu T, Wallblom A, Uttervall K, Lund J, Stellan B, Gahrton G, Nahi H, Alici E
PLoS One 2015;10(9):e0138248. Epub 2015 Sep 17 doi: 10.1371/journal.pone.0138248. PMID: 26378933Free PMC Article
Oxaliplatin-related acute myelogenous leukemia.
Carneiro BA, Kaminer L, Eldibany M, Sreekantaiah C, Kaul K, Locker GY
Oncologist 2006 Mar;11(3):261-2. doi: 10.1634/theoncologist.11-3-261. PMID: 16549810
Malignant rhabdoid tumor of the kidney: involvement of chromosome 22.
Shashi V, Lovell MA, von Kap-herr C, Waldron P, Golden WL
Genes Chromosomes Cancer 1994 May;10(1):49-54. doi: 10.1002/gcc.2870100108. PMID: 7519873

Prognosis

Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M
Am J Med Genet A 2020 Nov;182(11):2680-2684. Epub 2020 Aug 16 doi: 10.1002/ajmg.a.61804. PMID: 32803851
HGSNAT has a TATA-less promoter with multiple starts of transcription.
Richtrova E, Mrazova LS, Musalkova D, Luksan O, Stolnaya L, Minks J, Lukas J, Dvorakova L, Jirsa M, Hrebicek M
Gene 2016 Oct 30;592(1):36-42. Epub 2016 Jul 22 doi: 10.1016/j.gene.2016.07.051. PMID: 27452122
High-Resolution Array CGH Analysis Identifies Regional Deletions and Amplifications of Chromosome 8 in Uveal Melanoma.
Hammond DW, Al-Shammari NS, Danson S, Jacques R, Rennie IG, Sisley K
Invest Ophthalmol Vis Sci 2015 Jun;56(6):3460-6. doi: 10.1167/iovs.14-16215. PMID: 26030101
Karyotype and molecular cytogenetic studies in polycythemia vera.
Andrieux JL, Demory JL
Curr Hematol Rep 2005 May;4(3):224-9. PMID: 15865876
Association of specific chromosome alterations with tumour phenotype in posterior uveal melanoma.
Sisley K, Parsons MA, Garnham J, Potter AM, Curtis D, Rees RC, Rennie IG
Br J Cancer 2000 Jan;82(2):330-8. doi: 10.1054/bjoc.1999.0923. PMID: 10646885Free PMC Article

Clinical prediction guides

Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.
de Wergifosse S, Bevilacqua E, Mezela I, El Haddad S, Gounongbe C, de Marchin J, Maggi V, Conotte S, Badr DA, Fils JF, Guizani M, Jani JC
J Matern Fetal Neonatal Med 2021 Nov;34(21):3552-3561. Epub 2019 Nov 13 doi: 10.1080/14767058.2019.1686478. PMID: 31722585
Deletion of Chromosomal Region 8p21 Confers Resistance to Bortezomib and Is Associated with Upregulated Decoy TRAIL Receptor Expression in Patients with Multiple Myeloma.
Duru AD, Sutlu T, Wallblom A, Uttervall K, Lund J, Stellan B, Gahrton G, Nahi H, Alici E
PLoS One 2015;10(9):e0138248. Epub 2015 Sep 17 doi: 10.1371/journal.pone.0138248. PMID: 26378933Free PMC Article
High-Resolution Array CGH Analysis Identifies Regional Deletions and Amplifications of Chromosome 8 in Uveal Melanoma.
Hammond DW, Al-Shammari NS, Danson S, Jacques R, Rennie IG, Sisley K
Invest Ophthalmol Vis Sci 2015 Jun;56(6):3460-6. doi: 10.1167/iovs.14-16215. PMID: 26030101
Studies of genomic imbalances and the MYB-NFIB gene fusion in polymorphous low-grade adenocarcinoma of the head and neck.
Persson F, Fehr A, Sundelin K, Schulte B, Löning T, Stenman G
Int J Oncol 2012 Jan;40(1):80-4. Epub 2011 Sep 7 doi: 10.3892/ijo.2011.1190. PMID: 21901247
Genomic profile of copy number variants on the short arm of human chromosome 8.
Yu S, Fiedler S, Stegner A, Graf WD
Eur J Hum Genet 2010 Oct;18(10):1114-20. Epub 2010 May 12 doi: 10.1038/ejhg.2010.66. PMID: 20461109Free PMC Article

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