1.Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653, Kuwait
der(1)t(1;1)(p36;q11-q32). The balanced translocation t(1;1)(p36;q21) involving the DUSP10/PRDM16 genes is associated with myeloid disorders; the unbalanced der(1)t(1;1) involving 1q11-32 breakpoints may be observed in both myeloid and lymphoid proliferations and is frequently associated with a highly complex karyotype (Duhoux et al., 2011; Noguchi et al., 2007).
der(2)t(1;2)(q12;q37). Identified in patients suffering from different acute myeloid leukemia subtypes; less frequently chronic myeloid disorders. Found mostly in complex karyotypes; likely to be a secondary anomaly. The balanced t(1;2)(q12;q37) is occurring in acute myeloid leukemia (Busson-Le Coniat et al., 1999).
der(5)t(1;5)(q12-q25;q13-q35). Found in lymphoid and myeloid malignancies with cytogenetically heterogeneous breakpoints. In both lineages found as part of complex karyotypes, most likely as a secondary anomaly. In myeloid disorders the anomaly seems to confer a poor prognosis with a possible link to previous mutagenic exposure. The balanced t(1;5)(q23;q33) involving the PDGFRB gene is associated with a myeloproliferative disorder and eosinophilia (Johansson et al., 1997).
der(6)t(1;6)(q21-23;p21.3). Found in chronic myeloproliferative disorders and less frequently in AML/MDS. DNA sequences may be overrepresented at 6p as either cryptic duplications or cryptic low-copy gains. The presence of fragile site FRA6C, located in 6p22 suggest, that 6p gains may arise from acquired and/or congenital genomic instability. In addition, the occurrence of translocations involving 6p22 after chemotherapy or radiation therapy indicates, that one or more therapeutic agents might play a role in their origin (Dingli et al., 2005; Busson-Le Coniat et al., 1999).
der(1;7)(q10;p10). Defines a unique clinicopathological subgroup of myeloid neoplasms; found particularly in MDS and AML and less frequently in chronic myeloproliferative disorders. Previous history of chemo- and/or radiotherapies has been described in more than half cases. Sole cytogenetic anomaly in around one-half cases, limited number of additional abnormalities, consisting mostly of trisomy 8. The unbalanced translocation, der(1;7)(q10;p10), leading to allelic imbalance of trisomy 1q and 7q monosomy is associated with high rates of progression to AML in MDS and unfavorable prognosis (Caramazza et al., 2010; Slovak et al., 2009; Sanada et al., 2007).
der(1;9)(q10;p10). Rarely found in patients of essential thrombocythemia with JAK2 V617F mutation that transformed to acute myelogenous leukemia or to myelofibrosis, suggesting the anomaly may play a role in the progression of myeloproliferative neoplasms (Bobadilla et al., 2007).
der(9)t(1;9)(q11;q34). Rare occurrence, found in 3 cases of acute myeloid leukemia, 1 case of polycythemia vera, 1 case with chronic myelomonocytic leukemia and 1 case of multiple myeloma (Suh et al., 2009).
der(9)t(1;9)(q12;q12). Rare, found in 2 patients with polycythemia vera in transformation and in 1 patient with myelofibrosis, which later evolved into acute myelomonocytic leukemia; may be consistently associated with myeloproliferative disorders showing a high propensity to transformation. Sole abnormality in most cases; gain of 9p might play a role for gain of function of the JAK2 gene on 9p24 (Rege-Cambrin et al., 1991).
der(1;10)(q10;p10). Rare anomaly, described in patients with myelodysplastic syndromes (Leon et al., 2011).
der(11)t(1;11)(q12-21;q14-25). Unbalanced form is identified in myeloid and lymphoid malignancies; described mainly in secondary cases as part of highly complex karyotypes (Secker-Walker et al., 1998; Douet-Guilbert et al., 2008). The balanced t(1;11)(q21;q23) and MLL rearrangement is associated with in AML, mainly M4/M5.
der(12)t(1;12)(q11-21;p11-13). Rare abnormality, found in myeloid and lymphoid neoplasm, described in complex karyotypes; most likely as a secondary rearrangement (La Starza et al., 1999; Andersen et al., 2005).
der(1;13)(q10;q10). Uncommon in myeloid malignancies; described in chronic myeloid neoplasms including polycythemia vera and essential thrombocythemia (Flach et al., 2011; Tanaka et al., 2006).
der(1;14)(q10;q10). Detected in chronic and acute myeloid disorders found as a single anomaly in a majority of patients (Fogu et al., 2012).
dic(1;15)(p11;p11). Found in patients with various conditions, including both lymphoid and myeloid neoplasms. Rare, but nonrandom anomaly in MPD, mostly MDS and AML (Michaux et al., 1996a).
der(16)t(1;16)(q11-25;q11-24). Occurs in a wide variation of hematologic malignancies mostly as a part of complex karyotypes; limited number of additional anomalies in myeloproliferative disorders. A rare but nonrandom abnormality in myelodysplastic syndromes, associated with male predominance, suggesting a putative association of this translocation with male gender (Lunghi et al., 2010).
der(18)t(1;18)(q10-25;q11-23). Heterogeneous breakpoints; the anomaly is relatively restricted to myeloid disorders; found mostly in a highly proliferative ET/PV phenotype with a propensity to transform into myelofibrosis and acute leukemia. In particular, the subtype der(18)(q10;q10) seems to be associated with the aggressive phenotype of PV. Found as the sole karyotypic abnormality in the majority of patients. A relatively high incidence of JAK2 mutations in these patients suggests a possible link between JAK2 mutations and disease etiology (Trautmann et al., 1992; Diez-Martin et al., 1991; Gangat et al., 2008; Wan et al., 2001a; Azuma et al., 2010; Alter et al., 2000).
der(1)t(1;19)(q23;p13.1)(Tchinda et al., 2002).der(20)t(1;20)(q10-21;q11-13). Rare occurrence in myeloid lineages; apparently secondary anomaly, found mostly as part of complex karyotypes (Wan et al 2001b; Raimondi et al., 1999).
Adriana Zamecnikova ; Soad Al Bahar
1q translocations (unbalanced) in myeloid malignancies
Atlas Genet Cytogenet Oncol Haematol. 2013-05-01
Online version: http://atlasgeneticsoncology.org/haematological/1638/1q-translocations-(unbalanced)-in-myeloid-malignancies