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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
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
Malignant histiocytosis in childhood: a distinctive CD30-positive clinicopathological entity associated with a chromosomal translocation involving 5q35.
Nezelof C, Barbey S, Gogusev J, Terrier-Lacombe MJ
Semin Diagn Pathol 1992 Feb;9(1):75-89. PMID: 1313990

Diagnosis

Familial Early-Onset Alzheimer's Caused by Novel Genetic Variant and APP Duplication: A Cross-Sectional Study.
Kalfon L, Paz R, Raveh-Barak H, Salama A, Samra N, Kaplun A, Chasnyk N, Kfir NC, Mousa NK, Biton ES, Tanus M, Aharon-Peretz J, Falik Zaccai TC
Curr Alzheimer Res 2022;19(10):694-707. doi: 10.2174/1567205020666221020095257. PMID: 36278440
Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.
Chehimi SN, Almeida VT, Nascimento AM, Zanardo ÉA, de Oliveira YG, Carvalho GFDS, Wolff BM, Montenegro MM, de Assunção NA, Kim CA, Kulikowski LD
Clinics (Sao Paulo) 2022;77:100045. Epub 2022 May 28 doi: 10.1016/j.clinsp.2022.100045. PMID: 35640457Free PMC Article
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
Malignant histiocytosis in childhood: a distinctive CD30-positive clinicopathological entity associated with a chromosomal translocation involving 5q35.
Nezelof C, Barbey S, Gogusev J, Terrier-Lacombe MJ
Semin Diagn Pathol 1992 Feb;9(1):75-89. PMID: 1313990
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 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
Therapy-related leukemia and myelodysplastic syndrome: a large-scale Japanese study of clinical and cytogenetic features as well as prognostic factors.
Takeyama K, Seto M, Uike N, Hamajima N, Ino T, Mikuni C, Kobayashi T, Maruta A, Muto Y, Maseki N, Sakamaki H, Saitoh H, Shimoyama M, Ueda R
Int J Hematol 2000 Feb;71(2):144-52. PMID: 10745624
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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