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der(1;14)(p10 or q10;p10 or q10)

Written2015-06Adriana Zamecnikova, Soad Al Bahar
Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653, Kuwait

Abstract Review on der(1;14)(p10 or q10;p10 or q10) translocation, with data on clinics

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1654

Clinics and Pathology

Disease Myelodysplastic syndrome (MDS), myeloproliferative neoplasm (MPN), acute myelogenous leukemia (AML), acute lymhoblastic leukemia (ALL), multiple myeloma (MM) and lymphoma.
Phenotype / cell stem origin Suggested involvement of a pluripotent stem cell.
Epidemiology Most of patients (9/14) had a diagnosis of myeloid disorder: AML (2 patients), MDS (2 cases) and chronic myeloproliferative disorders (5 cases). A few other cases included ALL (2 patients), MM (1 case) and 2 cases with lymphoid malignancies. The male sex is prevalent (9:5); the median age at diagnosis is 59 years (range 10-74 years) (Table 1).

Sex/Age

Karyotype

Disease

Reference

M/59

46,XY,+1,der(1;14)(q10;q10)

Post-PV MDS

Swolin et al.,1986

F/ 28

46,XX,+1,der(1;14)(q10;q10),der(19)t(1;19)(q?23;p?13)

ALL

Nylund et al., 1994

M/54

47,XY,+X/35-42,XY,der(1;13)(q10;q10),der(1;14)(p10;q10)

NHL

Hashimoto et al., 1995

F/64

46,XX,der(1;14)(q10;p10)

Post-PV MF

Andrieux 2003

F/59

47,X,add(X)(p22),+7,t(8;14)(q24;q32)/47,idem,add(7)(p22)/
47,idem,+1,der(1;21)(q10;q10)/47,idem,+1,der(1;14)(q10;q10)

BL

Chan et al., 2003

F/11

46,XX,+1,der(1;14)(q10;q10)/46,idem,add(9)(q34),add(17)(p11)

RAEB

Imashuku et al., 2003

M/69

46,XY,der(1;14)(p10;p10),del(12)(p12)

RAEBt

Harada et al., 2004

F/

46,XX,der(1;14)(q10;q10)

PV

Zamora et al., 2004

M/73

45-46,XY,der(1;14)(p10;q10),del(5)(q13q33),+8,+9,del(11) (q14),del(20)(q11),der(21)t(21;21)x2,-22

RARS

Barouk-Simonet et al., 2005

M/65

46,XY,+1,der(1;14)(q10;q10)

ALL

Adeyinka et al., 2007

M/73

46,XY,+1,der(1;14)(q10;p10)

MM

Adeyinka et al., 2007

M/74

46,XY,+1,der(1;14)(q10;p10)

MPD

Adeyinka et al., 2007

M/43

46,XY,+1,der(1;14)(q10;q10)

CMMoL

Djordjevic et al., 2008

 

 

46,XY,+1,der(1;14)(q10;q10)
46,XY,+1,der(1;14),del(7)(q22)
46,XY,+1,der(1;14),del(7),t(9;22)(q34;q11)
46,XY,+1,der(1;14)t(1;2)(q25;q37),del(7)

AML- M4

Lee et al., 2008

Table 1. Reported cases with der(1;14) centromere translocations involving 1p10 or 1q10.
Abbreviations: ALL, acute lymphoblastic leukemia; AML, acute myeloid leukemia; CMML, chronic myelomonocytic leukemia; F, female; M, male; MF, myelofibrosis; MDS, myelodysplastic syndrome; MM, multiple myeloma; MPD, myeloproliferative disease; PV, polycythemia vera; PPMF, myelofibrosis after polycythemia vera; RAEB, refractory anemia with excess of blasts; RAEBt, refractory anemia with excess of blasts in transformation; RARS, refractory anemia with ringed sideroblasts.
Prognosis The prognostic effect of an extra 1q chromosome in myeloid disorders may be variable (indolent clinical course in MPD vs a distinct possibility of transformation and poor prognosis in MDS). The prognosis of patients with other diseases is unknown (sporadic cases reported).

Cytogenetics

Cytogenetics Morphological Whole arm chromosome translocation showing 2 normal copies of chromosome 1, only 1 normal chromosome 14 and a der(1;14) resulting in complete 1q trisomy. The centromeric breakpoints were confirmed only in sporadic cases, revealing an unique centromere derived from chromosome 14 (Busson-Le Coniat et al.,1999; Djordjevic et al., 2005; Fogu et al., 2013). The preservation of both chromosome 1 and 14 centromeres was not confirmed.
Additional anomalies Sole anomaly in half cases; found in association with del(5q), del(7q), del(12p), del(20q), t(9;22)(q34;q11) in myeloid malignancies and with t(8;14)(q24;q32) in Burkitt lymphoma.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis The unbalanced 1q whole-arm translocation with the recipient acrocentric 14 chromosome results in pure trisomy of the long arm of chromosome 1. The main consequence of 1q trisomy is a genomic imbalance that may account for a proliferation advantage of the neoplastic clone through a gene dosage effect. The consequent deregulation of several genes results in alteration of the balance between proliferation and cell death, suggesting that gene deregulation is the main mechanism of oncogenesis in 1q rearrangements, similar to numerical aberrations, (such as trisomy 8) observed in various hematologic malignancies.
  

Bibliography

Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies
Adeyinka A, Wei S, Sanchez J
Cancer Genet Cytogenet 2007 Mar;173(2):136-43
PMID 17321329
 
Karyotypic abnormalities in myelofibrosis following polycythemia vera
Andrieux J, Demory JL, Caulier MT, Agape P, Wetterwald M, Bauters F, Laï JL
Cancer Genet Cytogenet 2003 Jan 15;140(2):118-23
PMID 12645649
 
Role of multiplex FISH in identifying chromosome involvement in myelodysplastic syndromes and acute myeloid leukemias with complex karyotypes: a report on 28 cases
Barouk-Simonet E, Soenen-Cornu V, Roumier C, Cosson A, Laï JL, Fenaux P, Preudhomme C
Cancer Genet Cytogenet 2005 Mar;157(2):118-26
 
The spectrum of acute lymphoblastic leukemia with mature B-cell phenotype
Chan NP, Ma ES, Wan TS, Chan LC
Leuk Res 2003 Mar;27(3):231-4
PMID 12537975
 
Pattern of trisomy 1q in hematological malignancies: a single institution experience
Djordjević V, Dencić-Fekete M, Jovanović J, Drakulić D, Stevanović M, Janković G, Gotić M
Cancer Genet Cytogenet 2008 Oct;186(1):12-8
PMID 18786437
 
Unbalanced 1q whole-arm translocation resulting in der(14)t(1;14)(q11-12;p11) in myelodysplastic syndrome
Fogu G, Campus PM, Cambosu F, Moro MA, Sanna R, Fozza C, Nieddu RM, Longinotti M, Montella A
Cytogenet Genome Res 2012;136(4):256-63
PMID 22571950
 
Correlations of chromosome abnormalities with histologic and immunologic characteristics in 49 patients from Akita, Japan with non-Hodgkin lymphoma
Hashimoto K, Miura I, Chyubachi A, Saito M, Miura AB
Cancer Genet Cytogenet 1995 May;81(1):56-65
PMID 7773961
 
Detection of myelodysplastic syndrome/ acute myeloid leukemia evolving from aplastic anemia in children, treated with recombinant human G-CSF
Imashuku S, Hibi S, Bessho F, Tsuchida M, Nakahata T, Miyazaki S, Tsukimoto I, Hamajima N; Pediatric AA Follow-up Study Group in Japan
Haematologica 2003 Nov;88(11):ECR31
PMID 14607763
 
Lineage switch from acute myeloid leukemia to biphenotypic acute leukemia with acquisition of Philadelphia chromosome
Lee HR, Kang SH, Kang HJ, Shin HY, Ahn HS, Kim HK, Park MH, Cho HI, Lee DS
Cancer Genet Cytogenet 2008 Jul 15;184(2):124-6
PMID 18617064
 
Metaphase fluorescence in situ hybridization (FISH) in the follow-up of 60 patients with haemopoietic malignancies
Nylund SJ, Ruutu T, Saarinen U, Knuutila S
Br J Haematol 1994 Dec;88(4):778-83
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Therapy-related patterns of cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome post polycythemia vera: single center experience and review of literature
Swolin B, Rödjer S, Westin J
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Is fluorescence in situ hybridization a useful method in diagnosis of polycythemia vera patients? Cancer Genet Cytogenet
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Citation

This paper should be referenced as such :
Zamecnikova A, Al Bahar S
der(1;14)(p10 or q10;p10 or q10);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0114q10q10ID1654.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(1;14)(q10;q10)
 t(1;14)(p10;p10)

External links

Mitelman databaset(1;14)(q10;q10) [Case List]    t(1;14)(q10;q10) [Association List] Mitelman database (CGAP - NCBI)
Mitelman databaset(1;14)(p10;p10) [Case List]    t(1;14)(p10;p10) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseder(1;14)(p10 or q10;p10 or q10)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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