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


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.



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


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.


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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).


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:;15)(q11-12;p11-13)

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