der(15)t(1;15)(q11-12;p11-13) and der(15)t(1;15)(q21-25;p10-13)

2017-11-01   Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Kuwait annaadria@yahoo.com

Abstract

Unbalanced 1q translocations leading to complete or partial trisomies of the long arm of chromosome 1 have been widely reported in both lymphoid and myeloid neoplasms. Chromosomal translocations between the long arm of chromosome 1 and the acrocentric chromosome 15 are mostly secondary events representing clonal evolution.

Cytogenetics

Note

To exclude the presence of dic(1;15)(p10-11;p10-11) or dic(1;15)(q10 11;q10-11) fluorescence in situ hybridization with centromere-specific probes for both chromosomes is recommended.

Cytogenetics morphological

der(15)t(1;15)(q11-2;p11-13) was found as a sole anomaly in 2 MDS (Mecucci et al., 1986; Jotterand-Bellomo et al., 1990), 1 AML (Farag et al., 2006) and in the aplastic anemia patient (Kim et al., 2010). Found in association with del(5)(q14q32) and del(20)(q11) in 1 MDS (Mecucci et al., 1986) and +8 and del(20)(q13) in PV (Sanford et al., 2015). Associated with der(19)t(1;19)(q23;p13)/t(1;19)(q23;p13) in 4 out of 7 ALL patients (Raimondi et al., 1990; Heerema et al., 1999; Boomer et al., 2001; Coyaud et al., 2010), t(9;22)(q34;q11) in 2 (Wan et al., 2004; Wetzler et al., 2004) and t(8;22)(q24;q11) in 1 (Rafi et al 2000). Found with t(11;14)(q13;q32) in 2 out of 3 MM (Calasanz et al., 1997; Smadja et al., 2001) and 1 patient with MCL (Fan & Rizkalla 2003), 14q32/ t(14;18)(q32;q21) in 4 lymphomas (Kobayashi et al., 1993; Horsman et al., 2001; Le Baccon et al., 2001; Fan & Rizkalla 2003) and highly complex karyotypes in the remaining patients.
In the group of patients with 1q21-25 breakpoints, it was a sole anomaly in 1 ALL (Strefford et al., 2007) and 1 MM (Nakano et al., 2005) and found with t(1;19)(q23;p13)/der(19)t(1;19)(q23;p13) in the remaining 2 ALL patients (Schmiegelow et al., 2012; Safavi et al., 2015); found as a part of highly complex karyotypes in lymphoma patients.

Result of the Chromosomal Anomaly

Oncogenesis

Unbalanced 1q translocations with an acrocentric recipient chromosome 15 result in 1q trisomy. The main consequence of these rearrangements is genomic imbalance resulting from the presence of an extra copy of the long arm of chromosome 1, leading to overexpression of several genes, likely implicated in neoplastic processes by a gene dosage effect. They presumably occur as a secondary aberration in addition to well-known primary abnormalities, therefore representing clonal evolution preceding or accompanying disease progression.

Bibliography

Pubmed IDLast YearTitleAuthors
161568542005t(14;22)(q32;q11) in non-Hodgkin lymphoma and myeloid leukaemia: molecular cytogenetic investigations.Aamot HV et al
163647692006Cryptic 6p21.3 duplications and triplication involving HMGA1 partially masked by add 6p in four cases of myelodysplasia.Andrieux J et al
112434062001Detection of E2A translocations in leukemias via fluorescence in situ hybridization.Boomer T et al
91159681997Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations.Calasanz MJ et al
165228152006Pretreatment cytogenetics add to other prognostic factors predicting complete remission and long-term outcome in patients 60 years of age or older with acute myeloid leukemia: results from Cancer and Leukemia Group B 8461.Farag SS et al
201601642010Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study.Coyaud E et al
127421582003Comprehensive cytogenetic analysis including multicolor spectral karyotyping and interphase fluorescence in situ hybridization in lymphoma diagnosis. a summary of 154 cases.Fan YS et al
230122302013Patterns of genomic aberrations suggest that Burkitt lymphomas with complex karyotype are distinct from other aggressive B-cell lymphomas with MYC rearrangement.Havelange V et al
103748701999Cytogenetic studies of infant acute lymphoblastic leukemia: poor prognosis of infants with t(4;11) - a report of the Children's Cancer Group.Heerema NA et al
112417902001Analysis of secondary chromosomal alterations in 165 cases of follicular lymphoma with t(14;18).Horsman DE et al
23404871990Cytogenetic analysis of 54 cases of myelodysplastic syndrome.Jotterand-Bellomo M et al
15409561992Chromosome abnormalities in adult T-cell leukemia/lymphoma: a karyotype review committee report.Kamada N et al
168678732006Intrachromosomal rearrangement of chromosome 3q27: an under recognized mechanism of BCL6 translocation in B-cell non-Hodgkin lymphoma.Keller CE et al
76561981995Cytogenetic abnormalities in the leukemic phase of non-Hodgkin lymphoma.Khokhar MT et al
205401662010The characteristics and clinical outcome of adult patients with aplastic anemia and abnormal cytogenetics at diagnosis.Kim SY et al
83297101993Heterogeneity of breakpoints of 11q23 rearrangements in hematologic malignancies identified with fluorescence in situ hybridization.Kobayashi H et al
115794652001Novel evidence of a role for chromosome 1 pericentric heterochromatin in the pathogenesis of B-cell lymphoma and multiple myeloma.Le Baccon P et al
129303842003Multicolour fluorescence in situ hybridization analysis of t(14;18)-positive follicular lymphoma and correlation with gene expression data and clinical outcome.Lestou VS et al
171599882007Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation.Liu TX et al
190274892008Jumping translocations in hematological malignancies: a cytogenetic study of five cases.Manola KN et al
27138191989A dysmorphic child with myelodysplasia characterized by a duplication of 1q and multiple duplications of 3q.Mascarello JT et al
39549641986An identical translocation between chromosome 1 and 15 in two patients with myelodysplastic syndromes.Mecucci C et al
89237871996A new non-random chromosomal translocation t(3;6)(q27;p21.3) associated with BCL6 rearrangement in two patients with non-Hodgkin's lymphoma.Miura I et al
77233971995Jumping translocations in leukemia.Najfeld V et al
161588282005The unbalanced chromosomal translocation der(15)t(1;15)(q21;p13) in multiple myeloma.Nakano S et al
239297562013PCDH10 promoter hypermethylation is frequent in most histologic subtypes of mature lymphoid malignancies and occurs early in lymphomagenesis.Narayan G et al
270220032016The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes.Olsson L et al
163421722006EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements.Poppe B et al
111294412000ETV6/CBFA2 fusions in childhood B-cell precursor acute lymphoblastic leukemia with myeloid markers.Rafi SK et al
23807591990Cytogenetics of pre-B-cell acute lymphoblastic leukemia with emphasis on prognostic implications of the t(1;19).Raimondi SC et al
104593511999Cytogenetic abnormalities correlate with the plasma cell labeling index and extent of bone marrow involvement in myeloma.Rajkumar SV et al
252610972015Novel gene targets detected by genomic profiling in a consecutive series of 126 adults with acute lymphoblastic leukemia.Safavi S et al
79193661994Clinicopathologic features and treatment outcome of children with large-cell lymphoma and the t(2;5)(p23;q35).Sandlund JT et al
261412132015Jumping Translocations in Myeloid Malignancies Associated With Treatment Resistance and Poor Survival.Sanford D et al
220057842012High concordance of subtypes of childhood acute lymphoblastic leukemia within families: lessons from sibships with multiple cases of leukemia.Schmiegelow K et al
123932772002Cytogenetic analysis of 100 consecutive newly diagnosed cases of acute lymphoblastic leukemia in Rio de Janeiro.Silva ML et al
115680112001Hypodiploidy is a major prognostic factor in multiple myeloma.Smadja NV et al
172378252007Genome complexity in acute lymphoblastic leukemia is revealed by array-based comparative genomic hybridization.Strefford JC et al
152890202004Pathogenesis of jumping translocations: a molecular cytogenetics study.Wan TS et al
147177742004Additional cytogenetic abnormalities in adults with Philadelphia chromosome-positive acute lymphoblastic leukaemia: a study of the Cancer and Leukaemia Group B.Wetzler M et al
195212802009ALK-positive diffuse large B-cell lymphoma with the t(2;17)(p23;q23).Zhang D et al

Summary

Atlas Image
Figure 1. Partial karyotypes with der(15)t(1;15)(q11;p11-13).
Atlas Image
Figure 2. Fluorescence in situ hybridization with LSI 1p36/1q25 probe (Vysis, Abott Molecular, US) showing the extra green signal of 1q25 on der(15) chromosome (A). Hybridization with LSI PML/RARA probe revealing the red signal for PML located on der(15) chromosome (B).

Citation

Adriana Zamecnikova

der(15)t(1;15)(q11-12;p11-13) and der(15)t(1;15)(q21-25;p10-13)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/haematological/1811/der(15)t(1;15)(q11-12;p11-13)

External Links