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Partial deletion of chromosome 5

MedGen UID:
1825959
•Concept ID:
C5679649
•
Cell or Molecular Dysfunction
Synonyms: partial deletion of chromosome 5; partial deletion of chromosome type 5; Partial monosomy of chromosome 5; partial monosomy of chromosome 5
 
Monarch Initiative: MONDO:0016870
Orphanet: ORPHA261786

Professional guidelines

PubMed

Efficacy and Safety of Lenalidomide for Treatment of Low-/Intermediate-1-Risk Myelodysplastic Syndromes with or without 5q Deletion: A Systematic Review and Meta-Analysis.
Lian XY, Zhang ZH, Deng ZQ, He PF, Yao DM, Xu ZJ, Wen XM, Yang L, Lin J, Qian J
PLoS One 2016;11(11):e0165948. Epub 2016 Nov 8 doi: 10.1371/journal.pone.0165948. PMID: 27824902Free PMC Article
Treatment of MDS: something old, something new, something borrowed..
Sekeres MA
Hematology Am Soc Hematol Educ Program 2009:656-63. doi: 10.1182/asheducation-2009.1.656. PMID: 20008251
Banded chromosome analysis in patients with treatment-associated acute nonlymphocytic leukemia.
Arthur DC, Bloomfield CD
Cancer Genet Cytogenet 1984 Jul;12(3):189-99. doi: 10.1016/0165-4608(84)90030-x. PMID: 6722761

Recent clinical studies

Etiology

Impact of Genomic and Clinical Factors on Outcome of Children ≥18 Months of Age with Stage 3 Neuroblastoma with Unfavorable Histology and without MYCN Amplification: A Children's Oncology Group (COG) Report.
Pinto N, Naranjo A, Ding X, Zhang FF, Hibbitts E, Kennedy R, Tibbetts R, Wong-Michalak S, Craig DW, Manojlovic Z, Hogarty MD, Kreissman S, Bagatell R, Irwin MS, Park JR, Asgharzadeh S
Clin Cancer Res 2023 Apr 14;29(8):1546-1556. doi: 10.1158/1078-0432.CCR-22-3032. PMID: 36749880Free PMC Article
Efficacy and Safety of Lenalidomide for Treatment of Low-/Intermediate-1-Risk Myelodysplastic Syndromes with or without 5q Deletion: A Systematic Review and Meta-Analysis.
Lian XY, Zhang ZH, Deng ZQ, He PF, Yao DM, Xu ZJ, Wen XM, Yang L, Lin J, Qian J
PLoS One 2016;11(11):e0165948. Epub 2016 Nov 8 doi: 10.1371/journal.pone.0165948. PMID: 27824902Free PMC Article
Lenalidomide for del(5q) and non-del(5q) myelodysplastic syndromes.
Giagounidis AA
Semin Hematol 2012 Oct;49(4):312-22. doi: 10.1053/j.seminhematol.2012.07.001. PMID: 23079061
Treatment of MDS: something old, something new, something borrowed..
Sekeres MA
Hematology Am Soc Hematol Educ Program 2009:656-63. doi: 10.1182/asheducation-2009.1.656. PMID: 20008251
Secondary leukemias induced by topoisomerase-targeted drugs.
Felix CA
Biochim Biophys Acta 1998 Oct 1;1400(1-3):233-55. doi: 10.1016/s0167-4781(98)00139-0. PMID: 9748598

Diagnosis

Impact of Genomic and Clinical Factors on Outcome of Children ≥18 Months of Age with Stage 3 Neuroblastoma with Unfavorable Histology and without MYCN Amplification: A Children's Oncology Group (COG) Report.
Pinto N, Naranjo A, Ding X, Zhang FF, Hibbitts E, Kennedy R, Tibbetts R, Wong-Michalak S, Craig DW, Manojlovic Z, Hogarty MD, Kreissman S, Bagatell R, Irwin MS, Park JR, Asgharzadeh S
Clin Cancer Res 2023 Apr 14;29(8):1546-1556. doi: 10.1158/1078-0432.CCR-22-3032. PMID: 36749880Free PMC Article
Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.
Peng Y, Pang J, Hu J, Jia Z, Xi H, Ma N, Yang S, Liu J, Huang X, Tang C, Wang H
Mol Genet Genomic Med 2020 Aug;8(8):e1312. Epub 2020 Jun 4 doi: 10.1002/mgg3.1312. PMID: 32500674Free PMC Article
5p deletions: Current knowledge and future directions.
Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):224-38. Epub 2015 Aug 3 doi: 10.1002/ajmg.c.31444. PMID: 26235846Free PMC Article
The molecular pathogenesis of the myelodysplastic syndromes.
Pellagatti A, Boultwood J
Eur J Haematol 2015 Jul;95(1):3-15. Epub 2015 Feb 20 doi: 10.1111/ejh.12515. PMID: 25645650
Cri du chat syndrome: a critical review.
Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM, Machuca-Portillo G
Med Oral Patol Oral Cir Bucal 2010 May 1;15(3):e473-8. doi: 10.4317/medoral.15.e473. PMID: 20038906

Therapy

Therapy-related Myeloid Neoplasms in Children: A Single-institute Study.
Li G, Holly T, Kelly DR, Reddy V, Mikhail FM, Carroll AJ, Kutny MA
J Pediatr Hematol Oncol 2022 Jan 1;44(1):e109-e113. doi: 10.1097/MPH.0000000000002097. PMID: 33625084
Efficacy and Safety of Lenalidomide for Treatment of Low-/Intermediate-1-Risk Myelodysplastic Syndromes with or without 5q Deletion: A Systematic Review and Meta-Analysis.
Lian XY, Zhang ZH, Deng ZQ, He PF, Yao DM, Xu ZJ, Wen XM, Yang L, Lin J, Qian J
PLoS One 2016;11(11):e0165948. Epub 2016 Nov 8 doi: 10.1371/journal.pone.0165948. PMID: 27824902Free PMC Article
Lenalidomide for del(5q) and non-del(5q) myelodysplastic syndromes.
Giagounidis AA
Semin Hematol 2012 Oct;49(4):312-22. doi: 10.1053/j.seminhematol.2012.07.001. PMID: 23079061
Treatment of MDS: something old, something new, something borrowed..
Sekeres MA
Hematology Am Soc Hematol Educ Program 2009:656-63. doi: 10.1182/asheducation-2009.1.656. PMID: 20008251
Secondary leukemias induced by topoisomerase-targeted drugs.
Felix CA
Biochim Biophys Acta 1998 Oct 1;1400(1-3):233-55. doi: 10.1016/s0167-4781(98)00139-0. PMID: 9748598

Prognosis

Impact of Genomic and Clinical Factors on Outcome of Children ≥18 Months of Age with Stage 3 Neuroblastoma with Unfavorable Histology and without MYCN Amplification: A Children's Oncology Group (COG) Report.
Pinto N, Naranjo A, Ding X, Zhang FF, Hibbitts E, Kennedy R, Tibbetts R, Wong-Michalak S, Craig DW, Manojlovic Z, Hogarty MD, Kreissman S, Bagatell R, Irwin MS, Park JR, Asgharzadeh S
Clin Cancer Res 2023 Apr 14;29(8):1546-1556. doi: 10.1158/1078-0432.CCR-22-3032. PMID: 36749880Free PMC Article
The molecular pathogenesis of the myelodysplastic syndromes.
Pellagatti A, Boultwood J
Eur J Haematol 2015 Jul;95(1):3-15. Epub 2015 Feb 20 doi: 10.1111/ejh.12515. PMID: 25645650
Partial trisomy 3p24.3 and partial monosomy 5p15.33: case report and a literature review.
Puvabanditsin S, Memon N, Lambert G, Cross G, El-Khawam R, Botti C, Balbin J
Genet Couns 2013;24(1):13-20. PMID: 23610861
Lenalidomide for del(5q) and non-del(5q) myelodysplastic syndromes.
Giagounidis AA
Semin Hematol 2012 Oct;49(4):312-22. doi: 10.1053/j.seminhematol.2012.07.001. PMID: 23079061
Cri du chat syndrome: a critical review.
Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM, Machuca-Portillo G
Med Oral Patol Oral Cir Bucal 2010 May 1;15(3):e473-8. doi: 10.4317/medoral.15.e473. PMID: 20038906

Clinical prediction guides

DELE1 haploinsufficiency causes resistance to mitochondrial stress-induced apoptosis in monosomy 5/del(5q) AML.
Spinella JF, Chagraoui J, Moison C, Lavallée VP, Boivin I, Gracias D, Lavallée S, Carpentier GR, Beliveau F, Hébert J, Sauvageau G
Leukemia 2024 Mar;38(3):530-537. Epub 2023 Dec 15 doi: 10.1038/s41375-023-02107-4. PMID: 38102204Free PMC Article
Impact of Genomic and Clinical Factors on Outcome of Children ≥18 Months of Age with Stage 3 Neuroblastoma with Unfavorable Histology and without MYCN Amplification: A Children's Oncology Group (COG) Report.
Pinto N, Naranjo A, Ding X, Zhang FF, Hibbitts E, Kennedy R, Tibbetts R, Wong-Michalak S, Craig DW, Manojlovic Z, Hogarty MD, Kreissman S, Bagatell R, Irwin MS, Park JR, Asgharzadeh S
Clin Cancer Res 2023 Apr 14;29(8):1546-1556. doi: 10.1158/1078-0432.CCR-22-3032. PMID: 36749880Free PMC Article
Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.
Peng Y, Pang J, Hu J, Jia Z, Xi H, Ma N, Yang S, Liu J, Huang X, Tang C, Wang H
Mol Genet Genomic Med 2020 Aug;8(8):e1312. Epub 2020 Jun 4 doi: 10.1002/mgg3.1312. PMID: 32500674Free PMC Article
Lenalidomide for del(5q) and non-del(5q) myelodysplastic syndromes.
Giagounidis AA
Semin Hematol 2012 Oct;49(4):312-22. doi: 10.1053/j.seminhematol.2012.07.001. PMID: 23079061
Role of chromosome 5 in immortalization and tumorigenesis of human keratinocytes.
Hukku B, Rhim JS
Cancer Genet Cytogenet 1993 Jul 1;68(1):22-31. doi: 10.1016/0165-4608(93)90069-x. PMID: 8330279

Recent systematic reviews

Efficacy and Safety of Lenalidomide for Treatment of Low-/Intermediate-1-Risk Myelodysplastic Syndromes with or without 5q Deletion: A Systematic Review and Meta-Analysis.
Lian XY, Zhang ZH, Deng ZQ, He PF, Yao DM, Xu ZJ, Wen XM, Yang L, Lin J, Qian J
PLoS One 2016;11(11):e0165948. Epub 2016 Nov 8 doi: 10.1371/journal.pone.0165948. PMID: 27824902Free PMC Article

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