2018-03-01   Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Kuwait


Structural abnormalities involving sex chromosomes are uncommon in hematological malignancies. The unbalanced translocation between the long arm of chromosomes 1 and Y results in a partial trisomy of the 1q region and has been described mainly in chronic myeloproliferative disorders.

Clinics and Pathology


Myeloid disorders mainly, rarely B-cell lymphoid malignancies.


Chronic myeloid neoplasm in 15 patients (15 males aged 15 to 75 years; median 63 years). Among them, there were 7 cases of myelodysplastic syndrome (MDS) (Hollings et al., 1988; Thompsonet al., 1991; Wei et al., 1993; Raymakersetal et al.,1996; Djordjevicet al., 2008; Wan et al., 2001; Sanford et al., 2015), 1 polycythemia vera (Testa et al., 1981), 1 idiopathic myelofibrosis (Michaux et a., l 1996), 1 post-polycythemic myelofibrosis (Manabe et al., 2013), 1 essential thrombocythemia (Lim et al.,2016), 3 chronic myelomonocytic leukemia (Hollings et al., 1988; Michaux et al., 1996; Chen et al., 2010) and 1 atypical chronic myeloid leukemia (Ohsaka & Hisa 2002).
Acute myeloid leukemia in 5 (aged 0 to 86 years, median 63 years): 2 acute myeloblastic leukemia with maturation (AML-M2) (Haupt et al., 1991; Singh et al., 1993), 2 acute myelomonocytic leukemia (AML- M4) (Bao et al., 2006; Brown et al., 2012) and 1 acute monoblastic leukemia (AML-M5) (Tuborgh et al., 2013). ).
Acute lymphoblastic leukemia in 2 pediatric patients aged 0 and 10 years (Dayton et al.,1994; Heerema et al., 1999). ).
Multiple myeloma in 3 (1 aged 73 years, 2 unknown age) (Mugneret et al., 1995; Wang et al., 2010; Sawyer et al., 2014) and).
Mature B-cell neoplasm in 4 (aged 10,11,36 and 60 years) (Tanaka et al., 1990; Dayton et al., 1994; Lones et al., 2004; Havelange et al., 2013).


About 28 male patients harboring der(Y)t(Y;1)(q11-12;q12-21) have been reported (aged 1 to 86 years, median 60 years). Among them, there were 7 pediatric patients aged 0 to 15 years (median 10 years).


The acquisition of an unbalanced 1q rearrangement in patients with myeloid malignancies appears to be a late event associated with disease transition and poor response to treatment. der(Y)t(Y;1) in multiple myeloma and lymphoid malignancies is part of complex karyotypes with coexisting other high-risk genetic abnormalities such as 11q23 and 8q24 rearrangements that have an additional impact leading to shorter survival in these patients.


Cytogenetics morphological

Unbalanced translocation; a trisomic 1q juxtaposed to Yq12-21 replacing the terminal segment of chromosome Y.

Additional anomalies

Sole karyotype aberration in 10 patients, while it was accompanied by a limited number of additional chromosomal changes in 5 myeloid malignancies: +9 in 2 and +8, del(20q), del(11)(q13) sole cases. Found with 11q23 rearrangements as part of complex karyotypes in 2 AML patients. Association with t(8;14)(q24;q32)/8q24 rearrangement in 1 ALL in all the 4 patients with mature B-cell neoplasm; highly complex rearrangements in MM.

Result of the Chromosomal Anomaly


Complete or partial trisomies of 1q are well-known in hematological malignancies, but involvements of sex chromosomes are uncommon. Among them, der(Y)t(Y;1)(q11-12;q12-21) is most common in chronic myeloproliferative disorders, but cases of other diseases, such as AML or Burkitts lymphoma have also been reported. While it is unknown which genes on 1q are responsible for the development and/or progression of these diseases, it is likely that 1q trisomy results in deregulation of several genes implicated in leukemogenesis.


Pubmed IDLast YearTitleAuthors
165737422006Prospective study of 174 de novo acute myelogenous leukemias according to the WHO classification: subtypes, cytogenetic features and FLT3 mutations.Bao L et al
218461822012Prognosis of patients with t(8;16)(p11;p13) acute myeloid leukemia.Brown T et al
196319822010Analyses on clinical characteristic and prognoses of 41 patients with chronic myelomonocytic leukemia in China.Chen B et al
81165661994L3 acute lymphoblastic leukemia. Comparison with small noncleaved cell lymphoma involving the bone marrow.Dayton VD et al
187864372008Pattern of trisomy 1q in hematological malignancies: a single institution experience.Djordjević V et al
19371671991Cytogenetics of infantile leukemias and its correlations with bio-clinical features. The "G. Gaslini" Children's Hospital experience over a 9-year period.Haupt R 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
31657041988An identical t(Y;1)(q12;q21) in two patients with myelodysplastic syndromes.Hollings PE et al
151256092004Chromosome abnormalities may correlate with prognosis in Burkitt/Burkitt-like lymphomas of children and adolescents: a report from Children's Cancer Group Study CCG-E08.Lones MA et al
236755692013A rare der(Y)t(Y;1)(q12;q12) in a patient with post-polycythemic myelofibrosis: a case report.Manabe M et al
86167831996Translocation (Y;1)(q12;q12) in hematologic malignancies. Report on two new cases, FISH characterization, and review of the literature.Michaux L et al
78697641995Der(16)t(1;16)(q10;p10) in multiple myeloma: a new non-random abnormality that is frequently associated with Burkitt's-type translocations.Mugneret F et al
86309871996Derivative (y)t(Y;1)(q12;q12),+9 in a patient with polycythemia vera during transition into myelodysplasia.Raymakers R et al
261412132015Jumping Translocations in Myeloid Malignancies Associated With Treatment Resistance and Poor Survival.Sanford D 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
22080561990Reciprocal t(14;19)(q32.3;q13.1) in a patient with B-cell lymphoma.Tanaka S et al
69439321981Karyotypic patterns and their clinical significance in polycythemia vera.Testa JR et al
20219221991Transient t(Y;1)(q12;q21) in a patient with Fanconi anemia and myelodysplastic syndrome.Thompson PW et al
237355622013Complex three-way translocation involving MLL, ELL, RREB1, and CMAHP genes in an infant with acute myeloid leukemia and t(6;19;11)(p22.2;p13.1;q23.3).Tuborgh A et al
82426021993der(Y)t(Y;1) is a nonrandom abnormality in myelodysplastic syndrome.Wei DC et al


Atlas Image
Figure 1. Partial karyotypes showing the unbalanced rearrangement between chromosome Y and 1. Fluorescence hybridization with LSI X/Y probe (Abott molecular/Vysis, US) showing the der(Y) chromosome (A) and 2 copies of the derivative chromosome (B) on metaphase and interphase cell.


Adriana Zamecnikova


Atlas Genet Cytogenet Oncol Haematol. 2018-03-01

Online version:;1)(q11-12;q12-21)