2018-01-01   Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Kuwait


Unbalanced 1q rearrangements are widely reported in myeloid and lymphoid malignancies. Among unbalanced translocations of 1q, der(4)t(1;4)(q11-32;q34-q35) resulting in complete or partial trisomies of genes located on 1q is a relatively rare anomaly.

Clinics and Pathology


Myeloid malignancies, multiple myeloma (MM) and Non-Hodgkin lymphoma.
Myeloid malignancies in 4 (4 males aged 1 to 30 years): 1 refractory anemia with excess blasts-2 (Vundinti et al., 2003), 1 acute myeloblastic leukemia with minimal differentiation (AML-M0) (Creutzig et al., 1996), 1 acute erythroleukemia (AML-M6) (Baumgarten et al., 1993) and 1 acute megakaryoblastic leukemia (AML-M7) (Martinez-Climent et al., 1995). 3 of the AML patients were children with Down syndrome (DS) (aged 1, 2 and 2 years) (Baumgarten et al., 1993; Martinez-Climent et al., 1995; Creutzig et al., 1996).
Multiple myeloma in 7 (4 males and 3 females; ages unknown) (Sawyer et al., 1998; Sawyer et al., 1998; Gutierrez et al., 2000; Lloveras et al.,2004; Wu et al., 2007; Sawyer et al., 2014; Rack et al., 2016).
Lymphoid malignancies 1 acute lymphoblastic leukemia (Lin et al., 1990) (1 female aged 11 years), 1 post-transplant lymphoproliferative disorder (1 male aged 42 years) (Djokic et al., 2006); 10 B-cell lymphomas (6 males and 4 females aged 39 to 74 years), among them 6 patients with follicular lymphoma (Nishida et al., 1989; Bastard et al., 1992; Gray et al., 1997; Itoyama et al., 2002; Aamot et al., 2007; Narayan et al., 2013), 2 with diffuse large B-cell lymphoma (DLBCL) (Le Baccon et al., 2001; Trcic et al., 2010), 2 with mature B-cell neoplasm (Morgan et al., 1999; Veldman et al., 1997) and there was an 14 years old female with T-cell anaplastic large cell lymphoma (Lones et al., 2006).


15 males and 9 females aged 1 to 74 years (median 42 years).


Reported patients are characterized by complex karyotypes that likely reflects an inherent chromosomal instability correlated with a poor prognosis.


Cytogenetics morphological

Various breakpoints on the long arm of chromosome 1; MM and lymphoma patients tend to have more frequently near-centromeric 1q breakpoints (4 out of 7 MM and 7 out of 10 B-cell lymphoma patients).

Additional anomalies

Sole anomaly in 1 patient with DLBCL (Trcic et al., 2010), found in association with +8 in 2 AML patients with Down syndrome (DS) (Baumgarten et al., 1993; Creutzig et al., 1996) and in 1 with i(7)(q10) (Martinez-Climent et al., 1995). Found in a sideline with i(7)(q10) and t(9;22)(q34;q11) in the ALL patient (Lin et al., 1990), t(14;18)(q32;q21), as a part of complex karyotypes in 7 out of 10 B-cell lymphomas (Nishida et al., 1989; Bastard et al., 1992; Morgan et al., 1999; Le Baccon et al., 2001; Itoyama et al., 2002; Aamot et al., 2007; Narayan et al., 2013) and as an additional anomaly to t(2;5)(p23;q35) in patient with anaplastic large cell lymphoma (Lones et al., 2006). Found with del(1)(q21) in 1 (Gutierrez et al., 2000) and as part of highly complex karyotypes in the remaining multiple myeloma patients.

Result of the Chromosomal Anomaly

Expression localisation


1q gains represent nonrandom structural aberrations in hematological malignancies, suggesting the existence of genes in this chromosomal region that are important for disease initiation and/or progression.
Chromosome arm 1q is gene-rich, therefore several genes on 1q may contribute to disease pathogenesis that might cooperate in an additive or synergistic way resulting in their simultaneous downregulation. der(4)t(1;4)(q11-32;q34-35) has been reported as a sole karyotype aberration only in one patient, while it is usually present with additional common abnormalities or along with complex combinations of anomalies in most of the reported cases, indicating that gain of 1q might be relevant for tumor progression and advanced disease.


Pubmed IDLast YearTitleAuthors
172355512007Non-Hodgkin lymphoma with t(14;18): clonal evolution patterns and cytogenetic-pathologic-clinical correlations.Aamot HV et al
15867041992Translocations involving band 3q27 and Ig gene regions in non-Hodgkin's lymphoma.Bastard C et al
82201231993Partial trisomy 1q, an uncommon chromosomal aberration in erythroleukemia.Baumgarten E et al
88926661996Myelodysplasia and acute myelogenous leukemia in Down's syndrome. A report of 40 children of the AML-BFM Study Group.Creutzig U et al
162836192006Post-transplant lymphoproliferative disorder subtypes correlate with different recurring chromosomal abnormalities.Djokic M et al
93091141997Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma.Gray BA et al
110644662000Correlation between cytogenetic abnormalities and disease characteristics in multiple myeloma: monosomy of chromosome 13 and structural abnormalities of 11q are associated with a high percentage of S-phase plasma cells.Gutiérrez NC et al
123785262002Molecular cytogenetic analysis of genomic instability at the 1q12-22 chromosomal site in B-cell non-Hodgkin lymphoma.Itoyama T 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
23576851990bcr rearrangements in Philadelphia chromosome-positive acute lymphoblastic leukemia. A study of five Chinese patients in Taiwan.Lin MT et al
146976442004Cytogenetic and fluorescence in situ hybridization studies in 60 patients with multiple myeloma and plasma cell leukemia.Lloveras E et al
171164852006Complex secondary chromosome abnormalities in advanced stage anaplastic large cell lymphoma of children and adolescents: a report from CCG-E08.Lones MA et al
78450341995Clinical and prognostic significance of chromosomal abnormalities in childhood acute myeloid leukemia de novo.Martinez-Climent JA et al
100879471999PHA/IL2: an efficient mitogen cocktail for cytogenetic studies of non-Hodgkin lymphoma and chronic lymphocytic leukemia.Morgan R et al
239297562013PCDH10 promoter hypermethylation is frequent in most histologic subtypes of mature lymphoid malignancies and occurs early in lymphomagenesis.Narayan G et al
24929041989Nonrandom rearrangement of chromosome 14 at band q32.33 in human lymphoid malignancies with mature B-cell phenotype.Nishida K et al
263388012016Genomic profiling of myeloma: the best approach, a comparison of cytogenetics, FISH and array-CGH of 112 myeloma cases.Rack K et al
98342331998Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping.Sawyer JR et al
244975332014Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease.Sawyer JR et al
206981072010Recurrent chromosomal abnormalities in lymphomas in fine needle aspirates of lymph node.Trcić RL et al
90903891997Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping.Veldman T et al
128503812003A novel translocation der(4)t(1;4)(q21;q35) and a marker chromosome in a case of myelodysplastic syndrome.Vundinti BR et al
172239152007Abnormalities of chromosome 1p/q are highly associated with chromosome 13/13q deletions and are an adverse prognostic factor for the outcome of high-dose chemotherapy in patients with multiple myeloma.Wu KL et al


Atlas Image
Figure 1. Partial karyotypes with unbalanced translocation between chromosomes 1 and 4 (A). Fluorescence in situ hybridization with LSI 1p36/1q25 dual color probe (Abott Molecular/Vysis, US) showing the extra copy of 1q (green signal) on der(4) chromosome (B).


Adriana Zamecnikova


Atlas Genet Cytogenet Oncol Haematol. 2018-01-01

Online version:;4)(q11-32;q34-35)

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