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der(1;7)(q10;p10)

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; Helene.Bruyere@vch.ca

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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

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.

Bibliography

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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
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The unbalanced 1;7 translocation in de novo myelodysplastic syndrome and its clinical implication.
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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
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[Myelodysplastic syndrome mimicking idiopathic thrombocytopenic purpura]
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Karyotypic heterogeneity and clonal evolution in squamous cell carcinomas of the head and neck
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Cytogenetics of secondary myelodysplasia (sMDS) and acute nonlymphocytic leukemia (sAML).
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Unbalanced translocation der(1;7)(q10;p10) defines a unique clinicopathological subgroup of myeloid neoplasms
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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
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Citation

This paper should be referenced as such :
Bruyère H
der(1;7)(q10;p10);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0107ID1003.html
History of this paper:
Huret, JL. t(1;7)(q10;p10). Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):31-32.
http://documents.irevues.inist.fr/bitstream/handle/2042/37485/11-1998-t0107ID1003.pdf


Translocations implicated (Data extracted from papers in the Atlas)

 t(1;7)(q10;p10)
 der(1;7)(q10;p10)

External links

Mitelman databaset(1;7)(q10;p10) [Case List]    t(1;7)(q10;p10) [Association List] Mitelman database (CGAP - NCBI)
Mitelman databaseder(1;7)(q10;p10) [Case List]    der(1;7)(q10;p10) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseder(1;7)(q10;p10)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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indexed on : Thu Jan 12 11:17:59 CET 2017


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