2015-11-01   Hélène Bruyère 

1.Cytogenetics Laboratory, VGH, Department of Pathology and Laboratory Medicine, 899 12th Avenue West, Vancouver, BC, V5Z 1M9, Canada;
2.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Preponderant in myeloid disorders.


Myelodysplasic syndromes (MDS) in 60 % of cases.
Acute myeloid leukemia (AML) in 30%, most commonly AML-M2 but reported in all FAB subtypes; frequently with preceeding MDS.
Myeloproliferative neoplasms (MPN) represent the remaining 10% of cases.
Lymphoid disorders: very rare, half of cases being multiple myeloma with the der(1;7) as the sole abnormality (raising the possibility of an underlying MDS), the other half in various lymphoid disorders chronic lymplocytic leukemia (CLL), Burkitt lymphoma/leukemia, follicular lymphoma), most often part of a complex karyotype (Geisler et al., 1997; Hsiao et al., 2005; Al-Bahar et al., 2010)
Others: reported in only one case each of bilineage or biphenotypic acute leukemia with a t(9;22) (Sanada et al. 2007), sarcoma (Roberts et al., 2008) and carcinoma (Jin et al., 2002) with complex karyotypes and in two cases of aplastic anemia (Kim et al., 2010).

Phenotype stem cell origin

MDS cases: most commonly RA (60%).
AML cases: most commonly M2 but has been reported in all FAB subtypes.
MPN cases: reported in a few cases of polycythemia vera, essential thrombocythemia, chronic myelomonocytic leukemia and idiopathic myelofibrosis.


Found in 1.5-6% of MDS, 0.2-2% of AML and rarely in MPN. Older adults mostly (median late 50s, early 60s. male predominance (4M/1F), influenced partly by the preponderance of males in a large study of Japanese MDS cases with der(1;7) (Sanada et al., 2007).


MDS: There is some controversy as to the prognosis of the der(1;7) with trisomy 1q and monosomy 7q. A better outcome of der(1;7) compared to -7/del(7q) cases was shown in a retrospective study including 77 cases (Sanada et al., 2007), while there was no statistical difference in overall survival between der(1;7) versus del(7q) versus -7 in several studies including a smaller number of patients (Slovak et al., 2009; Hussain et al., 2012).
AML: In the UKMRC trials, the der(1;7) may be included in the "-7/del(7q)" group, associated with a poor prognosis (Grimwade et al., 2010). In the CALGB 8461 study, loss of 7q was associated with an intermediate prognosis (Byrd et al., 2002).


Cytogenetics morphological

Unbalanced whole-arm translocation with two chromosomes 1, a derivative chromosome including the long arm of chromosome 1 and the short arm of chromosome 7, and a chromosome 7 resulting in trisomy for 1q / monosomy for 7q. The balanced form may have been reported once in a secondary AML-M2 case (Higuchi et al., 1995).

Additional anomalies

85% of cases are not complex if the unbalanced der(1;7) with extra chromosome 1 is considered as a single abnormality ("single abnormality" in 50% of cases, one additional abnormality in the remaining 35%). The most frequent additional abnormalities are: +8 (50%); del(20q) (20%); +21 or +9 (3% each).
A cytogenetically unrelated, abnormal clone is found in 5% of cases, 80% in MDS, 20% in AML. Loss of Y, -7 and +8 are the most common abnormalities.


Pubmed IDLast YearTitleAuthors
203574982010Frequency and type of chromosomal abnormalities in childhood acute lymphoblastic leukemia patients in Kuwait: a six-year retrospective study.Al-Bahar S et al
94449331997In B-cell chronic lymphocytic leukaemia chromosome 17 abnormalities and not trisomy 12 are the single most important cytogenetic abnormalities for the prognosis: a cytogenetic and immunophenotypic study of 480 unselected newly diagnosed patients.Geisler CH et al
73783171980An identical translocation between chromosome 1 and 7 in three patients with myelofibrosis and myeloid metaplasia.Geraedts JP et al
227404532012Revised international prognostic scoring system for myelodysplastic syndromes.Greenberg PL et al
203857932010Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.Grimwade D et al
78129181995Leukemic transformation of polycythemia vera and essential thrombocythemia possibly associated with an alkylating agent.Higuchi T et al
23066831990The unbalanced 1;7 translocation in de novo myelodysplastic syndrome and its clinical implication.Horiike S et al
160195452005Simultaneous occurrence of der(1;7)(q10;p10) and t(14;18)(q32;q21) in non-Hodgkin's lymphoma: der(1;7) will appear as a secondary change in lymphoid neoplasia.Hsiao HH et al
225656572012Sole abnormalities of chromosome 7 in myeloid malignancies: spectrum, histopathologic correlates, and prognostic implications.Hussain FT et al
204453252010[Myelodysplastic syndrome mimicking idiopathic thrombocytopenic purpura].Hwang Y et al
118500672002Karyotypic heterogeneity and clonal evolution in squamous cell carcinomas of the head and neck.Jin C et al
18689121991Cytogenetics of secondary myelodysplasia (sMDS) and acute nonlymphocytic leukemia (sANLL).Johansson B et al
205401662010The characteristics and clinical outcome of adult patients with aplastic anemia and abnormal cytogenetics at diagnosis.Kim SY et al
15917071992Survival of patients with t(1;7)(p11;p11). Report of two cases and review of the literature.Pedersen B et al
180646472008Ploidy and karyotype complexity are powerful prognostic indicators in the Ewing's sarcoma family of tumors: a study by the United Kingdom Cancer Cytogenetics and the Children's Cancer and Leukaemia Group.Roberts P et al
173150202007Unbalanced translocation der(1;7)(q10;p10) defines a unique clinicopathological subgroup of myeloid neoplasms.Sanada M et al
196650672009Does MDS with der(1;7)(q10;p10) constitute a distinct risk group? A retrospective single institutional analysis of clinical/pathologic features compared to -7/del(7q) MDS.Slovak ML et al
30602511988Translocation t(1;7) revisited. Report of three further cases and review.Willem P et al


Class disease

Atlas Image
der(1;7)(q10;p10) G- (left) and R- (right) bandings - top: Courtesy Jean-Luc Lai; middle top: - Courtesy Sun Yuan; middle and bottom: - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services


Hélène Bruyère


Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version:;7)(q10;p10)

Historical Card

1998-11-01 der(1;7)(q10;p10) by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France