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Rearrangement of 11p15

MedGen UID:
1730124
•Concept ID:
C5419219
•
Cell or Molecular Dysfunction
Synonym: 11p15 Rearrangement

Definition

A cytogenetic abnormality indicating the presence of rearrangement involving the short arm segment p15 of chromosome 11. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRearrangement of 11p15

Recent clinical studies

Etiology

The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711Free PMC Article
Distinct pathologic feature of myeloid neoplasm with t(v;11p15); NUP98 rearrangement.
Lauw MIS, Qi Z, Eversmeyer L, Prakash S, Wen KW, Yu J, Monaghan SA, Aggarwal N, Wang L
Hum Pathol 2022 May;123:11-19. Epub 2022 Feb 12 doi: 10.1016/j.humpath.2022.02.004. PMID: 35167894
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
Soejima H, Higashimoto K
J Hum Genet 2013 Jul;58(7):402-9. Epub 2013 May 30 doi: 10.1038/jhg.2013.51. PMID: 23719190
Genetic and epigenetic findings in Silver-Russell syndrome.
Eggermann T, Begemann M, Spengler S, Schröder C, Kordass U, Binder G
Pediatr Endocrinol Rev 2010 Dec;8(2):86-93. PMID: 21150838
Russell-Silver syndrome.
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Diagnosis

The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711Free PMC Article
Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations.
Mayo S, Gómez-Manjón I, Atencia G, Moreno-Izquierdo A, Escribano D, Fernández-Martínez FJ
Eur J Obstet Gynecol Reprod Biol 2022 May;272:150-155. Epub 2022 Mar 14 doi: 10.1016/j.ejogrb.2022.03.027. PMID: 35313136
Acute leukaemia and myelodysplastic syndromes with chromosomal rearrangement involving 11q23 locus, but not MLL gene.
Zuo W, Wang SA, DiNardo C, Yabe M, Li S, Medeiros LJ, Tang G
J Clin Pathol 2017 Mar;70(3):244-249. Epub 2016 Aug 5 doi: 10.1136/jclinpath-2016-203831. PMID: 27496968
Genetic and epigenetic findings in Silver-Russell syndrome.
Eggermann T, Begemann M, Spengler S, Schröder C, Kordass U, Binder G
Pediatr Endocrinol Rev 2010 Dec;8(2):86-93. PMID: 21150838
Russell-Silver syndrome.
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Therapy

NUP98-HOXA9 bearing therapy-related myeloid neoplasm involves myeloid-committed cell and induces HOXA5, EVI1, FLT3, and MEIS1 expression.
Burillo-Sanz S, Morales-Camacho RM, Caballero-Velázquez T, Vargas MT, García-Lozano JR, Falantes JF, Prats-Martín C, Bernal R, Pérez-Simón JA
Int J Lab Hematol 2016 Feb;38(1):64-71. Epub 2015 Sep 29 doi: 10.1111/ijlh.12435. PMID: 26418229
NUP98 gene fusions in hematologic malignancies.
Lam DH, Aplan PD
Leukemia 2001 Nov;15(11):1689-95. doi: 10.1038/sj.leu.2402269. PMID: 11681408
11p15 translocations involving the NUP98 gene in childhood therapy-related acute myeloid leukemia/myelodysplastic syndrome.
Nishiyama M, Arai Y, Tsunematsu Y, Kobayashi H, Asami K, Yabe M, Kato S, Oda M, Eguchi H, Ohki M, Kaneko Y
Genes Chromosomes Cancer 1999 Nov;26(3):215-20. PMID: 10502319
The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10.
Arai Y, Hosoda F, Kobayashi H, Arai K, Hayashi Y, Kamada N, Kaneko Y, Ohki M
Blood 1997 Jun 1;89(11):3936-44. PMID: 9166830
Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families.
Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS
Am J Med Genet 1988 Feb;29(2):247-61. doi: 10.1002/ajmg.1320290202. PMID: 3354596

Prognosis

NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis.
Struski S, Lagarde S, Bories P, Puiseux C, Prade N, Cuccuini W, Pages MP, Bidet A, Gervais C, Lafage-Pochitaloff M, Roche-Lestienne C, Barin C, Penther D, Nadal N, Radford-Weiss I, Collonge-Rame MA, Gaillard B, Mugneret F, Lefebvre C, Bart-Delabesse E, Petit A, Leverger G, Broccardo C, Luquet I, Pasquet M, Delabesse E
Leukemia 2017 Mar;31(3):565-572. Epub 2016 Oct 3 doi: 10.1038/leu.2016.267. PMID: 27694926
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.
Brown LA, Rupps R, Peñaherrera MS, Robinson WP, Patel MS, Eydoux P, Boerkoel CF
Am J Med Genet A 2014 Jun;164A(6):1587-94. Epub 2014 Mar 25 doi: 10.1002/ajmg.a.36490. PMID: 24668696
Insulin-like growth factor system on adrenocortical tumorigenesis.
Ribeiro TC, Latronico AC
Mol Cell Endocrinol 2012 Mar 31;351(1):96-100. Epub 2011 Oct 14 doi: 10.1016/j.mce.2011.09.042. PMID: 22019903
Cytogenetic findings in 73 osteosarcoma specimens and a review of the literature.
Bridge JA, Nelson M, McComb E, McGuire MH, Rosenthal H, Vergara G, Maale GE, Spanier S, Neff JR
Cancer Genet Cytogenet 1997 May;95(1):74-87. doi: 10.1016/s0165-4608(96)00306-8. PMID: 9140456
Cytogenetic analysis in the examination of solid tumors in children.
Mertens F, Mandahl N, Mitelman F, Heim S
Pediatr Hematol Oncol 1994 Jul-Aug;11(4):361-77. doi: 10.3109/08880019409140536. PMID: 7947009

Clinical prediction guides

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.
Brown LA, Rupps R, Peñaherrera MS, Robinson WP, Patel MS, Eydoux P, Boerkoel CF
Am J Med Genet A 2014 Jun;164A(6):1587-94. Epub 2014 Mar 25 doi: 10.1002/ajmg.a.36490. PMID: 24668696
Russell-Silver syndrome.
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658
The role of NUP98 gene fusions in hematologic malignancy.
Slape C, Aplan PD
Leuk Lymphoma 2004 Jul;45(7):1341-50. doi: 10.1080/10428190310001659325. PMID: 15359631
Cytogenetic analysis in the examination of solid tumors in children.
Mertens F, Mandahl N, Mitelman F, Heim S
Pediatr Hematol Oncol 1994 Jul-Aug;11(4):361-77. doi: 10.3109/08880019409140536. PMID: 7947009
Rearrangements at the 11p15 locus and overexpression of insulin-like growth factor-II gene in sporadic adrenocortical tumors.
Gicquel C, Bertagna X, Schneid H, Francillard-Leblond M, Luton JP, Girard F, Le Bouc Y
J Clin Endocrinol Metab 1994 Jun;78(6):1444-53. doi: 10.1210/jcem.78.6.7911125. PMID: 7911125

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