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

2015-06-01   Adriana Zamecnikova  , Soad Al Bahar  

1.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

Clinics and Pathology

Disease

Myelodysplastic syndrome (MDS), myeloproliferative neoplasm (MPN), acute myelogenous leukemia (AML), acute lymhoblastic leukemia (ALL), multiple myeloma (MM) and lymphoma.

Phenotype stem cell 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.

Genes Involved and Proteins

Result of the Chromosomal Anomaly

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.

Article Bibliography

Pubmed IDLast YearTitleAuthors
173213292007Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies.Adeyinka A et al
126456492003Karyotypic abnormalities in myelofibrosis following polycythemia vera.Andrieux J et al
125379752003The spectrum of acute lymphoblastic leukemia with mature B-cell phenotype.Chan NP et al
187864372008Pattern of trisomy 1q in hematological malignancies: a single institution experience.Djordjević V et al
225719502012Unbalanced 1q whole-arm translocation resulting in der(14)t(1;14)(q11-12;p11) in myelodysplastic syndrome.Fogu G et al
77739611995Correlations of chromosome abnormalities with histologic and immunologic characteristics in 49 patients from Akita, Japan with non-Hodgkin lymphoma.Hashimoto K et al
146077632003Detection of myelodysplastic syndrome/ acute myeloid leukemia evolving from aplastic anemia in children, treated with recombinant human G-CSF.Imashuku S et al
186170642008Lineage switch from acute myeloid leukemia to biphenotypic acute leukemia with acquisition of Philadelphia chromosome.Lee HR et al
78191021994Metaphase fluorescence in situ hybridization (FISH) in the follow-up of 60 patients with haemopoietic malignancies.Nylund SJ et al
183513382008Therapy-related patterns of cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome post polycythemia vera: single center experience and review of literature.Swolin B et al
151727512004Is fluorescence in situ hybridization a useful method in diagnosis of polycythemia vera patients?Zamora L et al

Citation

Adriana Zamecnikova ; Soad Al Bahar

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

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/haematological/1654/der(1