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Chromosome 5 Rearrangement

MedGen UID:
1662130
•Concept ID:
C4725767
•
Cell or Molecular Dysfunction
Synonym: Rearrangement of Chromosome 5

Definition

A rearrangement of genomic material involving chromosome 5. [from NCI]

Professional guidelines

PubMed

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T
Eur J Hum Genet 2015 May;23(5):663-71. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.153. PMID: 25118026Free PMC Article
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.
Mainardi PC, Perfumo C, Calì A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD
J Med Genet 2001 Mar;38(3):151-8. doi: 10.1136/jmg.38.3.151. PMID: 11238681Free PMC Article
Genotype markers and proto-oncogene analysis in the CD30-positive "malignant histiocytosis" DEL cell line with t(5;6)(q35;p21).
Gogusev J, Barbey S, Nezelof C
Int J Cancer 1990 Jul 15;46(1):106-12. doi: 10.1002/ijc.2910460120. PMID: 2163988

Recent clinical studies

Etiology

Balanced complex chromosome rearrangement in male infertility: case report and literature review.
Nguyen MH, Morel F, Pennamen P, Parent P, Douet-Guilbert N, Le Bris MJ, Basinko A, Roche S, De Braekeleer M, Perrin A
Andrologia 2015 Mar;47(2):178-85. Epub 2014 Feb 24 doi: 10.1111/and.12245. PMID: 24612408
A translocation t(5;15)(q15;q11-13) infant case with acute lymphoblastic leukemia and literature review: prognosis implications.
Corona-Rivera A, Bobadilla-Morales L, Cruz-Osorio RM, Ortega-de-la-Torre C, Gallegos-Castorena S, Sánchez-Zubieta F
J Pediatr Hematol Oncol 2012 Jul;34(5):368-71. doi: 10.1097/MPH.0b013e31824258f2. PMID: 22395215
New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia.
Stella F, Pedrazzini E, Rodríguez A, Baialardo E, Kusminsky G, Arbelbide J, Fantl DB, Slavutsky I
Cytogenet Genome Res 2011;134(4):249-59. Epub 2011 Jul 5 doi: 10.1159/000329479. PMID: 21734361
NPM1 deletion is associated with gross chromosomal rearrangements in leukemia.
La Starza R, Matteucci C, Gorello P, Brandimarte L, Pierini V, Crescenzi B, Nofrini V, Rosati R, Gottardi E, Saglio G, Santucci A, Berchicci L, Arcioni F, Falini B, Martelli MF, Sambani C, Aventin A, Mecucci C
PLoS One 2010 Sep 21;5(9):e12855. doi: 10.1371/journal.pone.0012855. PMID: 20877721Free PMC Article
Malignant histiocytosis. Histologic, cytochemical, chromosomal, and molecular data with a nosologic discussion.
Gogusev J, Nezelof C
Hematol Oncol Clin North Am 1998 Apr;12(2):445-63. doi: 10.1016/s0889-8588(05)70522-0. PMID: 9561912

Diagnosis

Balanced complex chromosome rearrangement in male infertility: case report and literature review.
Nguyen MH, Morel F, Pennamen P, Parent P, Douet-Guilbert N, Le Bris MJ, Basinko A, Roche S, De Braekeleer M, Perrin A
Andrologia 2015 Mar;47(2):178-85. Epub 2014 Feb 24 doi: 10.1111/and.12245. PMID: 24612408
Characterization of a novel t(2;5;11) in a patient with concurrent AML and CLL: a case report and literature review.
Zhang R, Kim YM, Lu X, Wang X, Pang H, Li Y, Li S, Lee JY
Cancer Genet 2011 Jun;204(6):328-33. doi: 10.1016/j.cancergen.2011.04.006. PMID: 21763630
Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).
Cervera M, Sánchez S, Molina B, Alcántara MA, Del Castillo V, Carnevale A, González-del Angel A
Am J Med Genet A 2005 Aug 1;136A(4):381-5. doi: 10.1002/ajmg.a.30791. PMID: 16001443
Clinical and prognostic implications of chromosome 5q deletions: 96 high resolution studied patients.
Pedersen B, Jensen IM
Leukemia 1991 Jul;5(7):566-73. PMID: 2072742
Chromosome aberrations and prognostic factors in therapy-related myelodysplasia and acute nonlymphocytic leukemia.
Pedersen-Bjergaard J, Philip P, Larsen SO, Jensen G, Byrsting K
Blood 1990 Sep 15;76(6):1083-91. PMID: 2400804

Therapy

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.
Scharf F, Leal Silva RM, Morak M, Hastie A, Pickl JMA, Sendelbach K, Gebhard C, Locher M, Laner A, Steinke-Lange V, Koehler U, Holinski-Feder E, Wolf DA
J Med Genet 2022 Oct;59(10):976-983. Epub 2021 Dec 14 doi: 10.1136/jmedgenet-2021-108147. PMID: 34911816Free PMC Article
Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.
Gosenca D, Kellert B, Metzgeroth G, Haferlach C, Fabarius A, Schwaab J, Kneba M, Scheid C, Töpelt K, Erben P, Haferlach T, Cross NC, Hofmann WK, Seifarth W, Reiter A
Genes Chromosomes Cancer 2014 May;53(5):411-21. doi: 10.1002/gcc.22153. PMID: 24772479
Therapy-related myeloid neoplasms in 39 Korean patients: a single institution experience.
Huh HJ, Lee SH, Yoo KH, Sung KW, Koo HH, Kim K, Jang JH, Jung C, Kim SH, Kim HJ
Ann Lab Med 2013 Mar;33(2):97-104. Epub 2013 Feb 21 doi: 10.3343/alm.2013.33.2.97. PMID: 23483787Free PMC Article
Therapy-related myelodysplastic/myeloproliferative neoplasms with del(5q) and t(1;11)(p32;q23) lacking MLL rearrangement.
Yamamoto K, Katayama Y, Shimoyama M, Matsui T
Intern Med 2010;49(11):1031-5. Epub 2010 Jun 1 doi: 10.2169/internalmedicine.49.3382. PMID: 20519822
Specific chromosomal translocations and therapy-related leukemia induced by bimolane therapy for psoriasis.
Xue Y, Lu D, Guo Y, Lin B
Leuk Res 1992 Nov;16(11):1113-23. doi: 10.1016/0145-2126(92)90050-h. PMID: 1434747

Prognosis

Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.
Gosenca D, Kellert B, Metzgeroth G, Haferlach C, Fabarius A, Schwaab J, Kneba M, Scheid C, Töpelt K, Erben P, Haferlach T, Cross NC, Hofmann WK, Seifarth W, Reiter A
Genes Chromosomes Cancer 2014 May;53(5):411-21. doi: 10.1002/gcc.22153. PMID: 24772479
A translocation t(5;15)(q15;q11-13) infant case with acute lymphoblastic leukemia and literature review: prognosis implications.
Corona-Rivera A, Bobadilla-Morales L, Cruz-Osorio RM, Ortega-de-la-Torre C, Gallegos-Castorena S, Sánchez-Zubieta F
J Pediatr Hematol Oncol 2012 Jul;34(5):368-71. doi: 10.1097/MPH.0b013e31824258f2. PMID: 22395215
New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia.
Stella F, Pedrazzini E, Rodríguez A, Baialardo E, Kusminsky G, Arbelbide J, Fantl DB, Slavutsky I
Cytogenet Genome Res 2011;134(4):249-59. Epub 2011 Jul 5 doi: 10.1159/000329479. PMID: 21734361
Clinical and prognostic implications of chromosome 5q deletions: 96 high resolution studied patients.
Pedersen B, Jensen IM
Leukemia 1991 Jul;5(7):566-73. PMID: 2072742
Chromosome aberrations and prognostic factors in therapy-related myelodysplasia and acute nonlymphocytic leukemia.
Pedersen-Bjergaard J, Philip P, Larsen SO, Jensen G, Byrsting K
Blood 1990 Sep 15;76(6):1083-91. PMID: 2400804

Clinical prediction guides

Genome collinearity analysis illuminates the evolution of donkey chromosome 1 and horse chromosome 5 in perissodactyls: A comparative study.
Li S, Zhao G, Han H, Li Y, Li J, Wang J, Cao G, Li X
BMC Genomics 2021 Sep 15;22(1):665. doi: 10.1186/s12864-021-07984-6. PMID: 34521340Free PMC Article
Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.
Gosenca D, Kellert B, Metzgeroth G, Haferlach C, Fabarius A, Schwaab J, Kneba M, Scheid C, Töpelt K, Erben P, Haferlach T, Cross NC, Hofmann WK, Seifarth W, Reiter A
Genes Chromosomes Cancer 2014 May;53(5):411-21. doi: 10.1002/gcc.22153. PMID: 24772479
New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia.
Stella F, Pedrazzini E, Rodríguez A, Baialardo E, Kusminsky G, Arbelbide J, Fantl DB, Slavutsky I
Cytogenet Genome Res 2011;134(4):249-59. Epub 2011 Jul 5 doi: 10.1159/000329479. PMID: 21734361
Clonal cytogenetic abnormalities in Hodgkin's disease.
Ladanyi M, Parsa NZ, Offit K, Wachtel MS, Filippa DA, Jhanwar SC
Genes Chromosomes Cancer 1991 Jul;3(4):294-9. doi: 10.1002/gcc.2870030408. PMID: 1958594
Chromosome aberrations and prognostic factors in therapy-related myelodysplasia and acute nonlymphocytic leukemia.
Pedersen-Bjergaard J, Philip P, Larsen SO, Jensen G, Byrsting K
Blood 1990 Sep 15;76(6):1083-91. PMID: 2400804

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