Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Written1998-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2015-11Hélène Bruyère
Cytogenetics Laboratory, VGH, Department of Pathology and Laboratory Medicine, 899 12th Avenue West, Vancouver, BC, V5Z 1M9, Canada;

(Note : for Links provided by Atlas : click)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1003
  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

Clinics and Pathology

Note Preponderant in myeloid disorders.
Disease 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 / cell stem 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.
Epidemiology Found in 1.5-6% of MDS, 0.2-2% of AML and rarely in MPN. Older adults mostly (median late 50's, early 60's. 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).
Prognosis 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.


Frequency and type of chromosomal abnormalities in childhood acute lymphoblastic leukemia patients in Kuwait: a six-year retrospective study
Al-Bahar S, Zámecnákova A, Pandita R
Med Princ Pract 2010;19(3):176-81
PMID 20357498
In 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, Philip P, Christensen BE, Hou-Jensen K, Pedersen NT, Jensen OM, Thorling K, Andersen E, Birgens HS, Drivsholm A, Ellegaard J, Larsen JK, Plesner T, Brown P, Andersen PK, Hansen MM
Leuk Res 1997 Nov-Dec;21(11-12):1011-23
PMID 9444933
An identical translocation between chromosome 1 and 7 in three patients with myelofibrosis and myeloid metaplasia.
Geraedts JP, den Ottolander GJ, Ploem JE, Muntinghe OG
British journal of haematology. 1980 ; 44 (4) : 569-575.
PMID 7378317
Revised international prognostic scoring system for myelodysplastic syndromes
Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, Bennett JM, Bowen D, Fenaux P, Dreyfus F, Kantarjian H, Kuendgen A, Levis A, Malcovati L, Cazzola M, Cermak J, Fonatsch C, Le Beau MM, Slovak ML, Krieger O, Luebbert M, Maciejewski J, Magalhaes SM, Miyazaki Y, Pfeilstöcker M, Sekeres M, Sperr WR, Stauder R, Tauro S, Valent P, Vallespi T, van de Loosdrecht AA, Germing U, Haase D
Blood 2012 Sep 20;120(12):2454-65
PMID 22740453
Refinement 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, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, Wheatley K, Harrison CJ, Burnett AK; National Cancer Research Institute Adult Leukaemia Working Group
Blood 2010 Jul 22;116(3):354-65
PMID 20385793
Leukemic transformation of polycythemia vera and essential thrombocythemia possibly associated with an alkylating agent
Higuchi T, Okada S, Mori H, Niikura H, Omine M, Terada H
Cancer 1995 Jan 15;75(2):471-7
PMID 7812918
The unbalanced 1;7 translocation in de novo myelodysplastic syndrome and its clinical implication.
Horiike S, Taniwaki M, Misawa S, Nishigaki H, Okuda T, Yokota S, Kashima K, Inazawa J, Abe T
Cancer. 1990 ; 65 (6) : 1350-1354.
PMID 2306683
Simultaneous 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, Sashida G, Ito Y, Tachino M, Beppu H, Ohyashiki K
Leuk Lymphoma 2005 Jun;46(6):949-50
PMID 16019545
Sole abnormalities of chromosome 7 in myeloid malignancies: spectrum, histopathologic correlates, and prognostic implications
Hussain FT, Nguyen EP, Raza S, Knudson R, Pardanani A, Hanson CA, Van Dyke D, Tefferi A
Am J Hematol 2012 Jul;87(7):684-6
PMID 22565657
[Myelodysplastic syndrome mimicking idiopathic thrombocytopenic purpura]
Hwang Y, Huh JW, Mun YC, Seong CM, Chung WS
Korean J Lab Med 2010 Apr;30(2):105-10
PMID 20445325
Karyotypic heterogeneity and clonal evolution in squamous cell carcinomas of the head and neck
Jin C, Jin Y, Wennerberg J, Akervall J, Dictor M, Mertens F
Cancer Genet Cytogenet 2002 Jan 15;132(2):85-96
PMID 11850067
Cytogenetics of secondary myelodysplasia (sMDS) and acute nonlymphocytic leukemia (sAML).
Johansson B, Mertens F, Heim S, Kristoffersson U, Mitelman F
European journal of haematology. 1991 ; 47 (1) : 17-27.
PMID 1868912
The characteristics and clinical outcome of adult patients with aplastic anemia and abnormal cytogenetics at diagnosis
Kim SY, Lee JW, Lee SE, Cho BS, Kim M, Eom KS, Kim YJ, Kim HJ, Lee S, Min CK, Cho SG, Kim DW, Han K, Min WS
Genes Chromosomes Cancer 2010 Sep;49(9):844-50
PMID 20540166
Survival of patients with t(1;7)(p11;p11). Report of two cases and review of the literature.
Pedersen B
Cancer genetics and cytogenetics. 1992 ; 60 (1) : 53-59.
PMID 1591707
Ploidy 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, Burchill SA, Brownhill S, Cullinane CJ, Johnston C, Griffiths MJ, McMullan DJ, Bown NP, Morris SP, Lewis IJ
Genes Chromosomes Cancer 2008 Mar;47(3):207-20
PMID 18064647
Unbalanced translocation der(1;7)(q10;p10) defines a unique clinicopathological subgroup of myeloid neoplasms
Sanada M, Uike N, Ohyashiki K, Ozawa K, Lili W, Hangaishi A, Kanda Y, Chiba S, Kurokawa M, Omine M, Mitani K, Ogawa S
Leukemia 2007 May;21(5):992-7
PMID 17315020
Does 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, O'Donnell M, Smith DD, Gaal K
Cancer Genet Cytogenet 2009 Sep;193(2):78-85
PMID 19665067
Translocation t(1;7) revisited. Report of three further cases and review.
Willem P, Pinto M, Bernstein R
Cancer genetics and cytogenetics. 1988 ; 36 (1) : 45-54.
PMID 3060251


This paper should be referenced as such :
Bruyère H
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :
History of this paper:
Huret, JL. t(1;7)(q10;p10). Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):31-32.

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(1;7)(q10;p10) [Case List]    t(1;7)(q10;p10) [Transloc-MCList]
Mitelman databaseder(1;7)(q10;p10) [Case List]    der(1;7)(q10;p10) [Transloc-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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indexed on : Fri Mar 16 15:49:00 CET 2018

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