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

Abstract

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

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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

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Karyotypic abnormalities in myelofibrosis following polycythemia vera

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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

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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

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Pattern of trisomy 1q in hematological malignancies: a single institution experience

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Cancer Genet Cytogenet 2008 Oct;186(1):12-8

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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

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PMID 22571950

Correlations of chromosome abnormalities with histologic and immunologic characteristics in 49 patients from Akita, Japan with non-Hodgkin lymphoma

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Detection of myelodysplastic syndrome/ acute myeloid leukemia evolving from aplastic anemia in children, treated with recombinant human G-CSF

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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 database	t(1;14)(q10;q10) [Case List]    t(1;14)(q10;q10) [Association List] Mitelman database (CGAP - NCBI)
Mitelman database	t(1;14)(p10;p10) [Case List]    t(1;14)(p10;p10) [Association List] Mitelman database (CGAP - NCBI)
arrayMap	Topo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease database	der(1;14)(p10 or q10;p10 or q10)

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