Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

-7::del(7q) in adults

Written1999-06François Desangles
Laboratoire de Biologie, Hopital du Val de Grace, 75230 Paris, France

(Note : for Links provided by Atlas : click)


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 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1093
Note -7/del(7q) in childhood blood malignancies exhibits a specific pattern of pathogenesis; chromosome 7 anomalies are not rare in acute lymphocytic leukaemia (ALL); they occur in balanced translocations involving 7p15 or 7q34 in T lineage and 7q22 or 7q32 in B proliferations; monosomy 7 is present in 5 to 6 % of ALL, most often as a secondary anomaly of the t(9;22); the association t(9;22), -7 is present in 16 % of the Ph1+ ALL, i.e. in 3% of ALL as a whole; we will hereunder focuse on -7/del(7q) in adult myeloproliferations
  del(7q)  Figure 1: Partial karyotypes with 7q deletions (A). Fluorescence in situ hybridization with Vysis D7S486 (7q31)/CEP 7 probe (Abbott moleculars, US) showing  2 green and 2 red signals on normal and one red signal in abnormal metaphases indicating 7q deletion of various sizes (C-H) – Courtesy Adriana Zamecnikova. Figure 2: del(7q) G- banding - Courtesy Jean-Luc Lai and Alain Vanderhaegen; Hybridization with Vysis D7S486 (7q31)/CEP 7 probe (Abbott moleculars, US) showing 1 green and 1 red signal confirming monosomy 7on metaphase and interphase cells – Courtesy Adriana Zamecnikova.

Clinics and Pathology

Disease myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML); they may occur de novo, or be secondary to an exposure to chemical mutagens or to chemotherapy treatments with alkylating agents; may probably also be secondary to immunosuppressive therapy for severe aplastic anemia
Phenotype / cell stem origin
  • MDS cases : found in 30% of RAEB/RAEB-T, 20% of CMML, and only 5% of RA with an abnormal karyotype;
  • AML most often M4 or M6 ;
  • Monosomy 7 and these deletions does not seem a specific feature of the dysplastic clone in the MDS, they are secondary events contributing to the leucogenesis
  • Epidemiology -7 is the most frequent abnormality in secondary myeloid disorders, found in 51% of the cases in a series of 246 cases, while del(7q) was found in 7%, and a partial monosomy 7 as a result of an unbalanced translocation in 8% of cases; in contrast, -7/del(7q) is found in 10% of de novo myeloid disorders; the sex ratio is 1.5 male for 1 female; the proportion of adults with a -7 myeloid disorder grows dramatically after 60 years
    Clinics characterized by infectious susceptibility, quick aggravation, and treatment resistance
    Prognosis monosomy 7 is classified as a poor prognostic criterium by the International Prognostic Scoring System; the actuarial relapse rate at one year is 82 %, and the 7-yr actuarial event-free survival is 6 %; after an allogeneic bone marrow transplantation, -7 is predictive of an unfavorable outcome


    Cytogenetics Morphological deletion (7q) is always interstitial; cluster of breakpoints in 7q11 to 7q36, is a with two common minimal zones in q22 and in q32-34
    Cytogenetics Molecular using loss of heterogygocity (LOH) studies and YAC libraries, a 2 to 3 Mb segment in 7q22 has been designated as the proximal common deleted area; the 7q33-34 zone is the consensual area for the distal deletion; LOH studies suggest that a specific mechanism, such as mitotic recombination in bone marrow stem cell leading to homozygosity in both granulocytes and lymphocytes, may be implicated
    Additional anomalies -5/del(5q), found in 40 to 60 % of the secondary MDS cases; trisomy 8
    Variants the balanced translocation t(1;7)(q10;p10), and many unbalanced translocation, having for consequence a partial monosomy 7 of the 7q22 to 7q34 bands may, in a way, be considered as variants

    Genes involved and Proteins

    Note -7/del(7q) is not only frequent in secondary MDS or AML, but also in leukemias occurring in individuals with constitutional syndromes including predisposition to myeloid disorders; these findings suggest the presence of a putative myeloid leukemia suppressor gene in the commonly deleted genomic segment 7q22 and even multiple genes in 7q22 -31.1 that are playing a role in leukemogenesis;

    candidate genes are :

  • ASNS (asparagine synthetase gene) in 7q21.3-q22.1;
  • ACHE (acetyl cholinesterase),
  • EPO (erythropoietin),
  • PLANH1 (plasminogen activator inhibitor 1) in 7q22; and
  • MET in 7q31.2-31.3
  • Bibliography

    Cytokine modulation of the susceptibility of acute T-lymphoblastic leukemia cell lines to LAK activity.
    Cesano A, Clark SC, Santoli D
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1993 ; 7 (3) : 404-409.
    PMID 8445946
    Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias.
    Fischer K, Fröhling S, Scherer SW, McAllister Brown J, Scholl C, Stilgenbauer S, Tsui LC, Lichter P, Döhner H
    Blood. 1997 ; 89 (6) : 2036-2041.
    PMID 9058725
    Correlation of occupation and karyotype in adults with acute nonlymphocytic leukemia.
    Golomb HM, Alimena G, Rowley JD, Vardiman JW, Testa JR, Sovik C
    Blood. 1982 ; 60 (2) : 404-411.
    PMID 7093525
    Neutrophil dysplasia is not a specific feature of the abnormal chromosomal clone in myelodysplastic syndromes.
    Hast R, Eriksson M, Widell S, Arvidsson I, Bemell P
    Leukemia research. 1999 ; 23 (6) : 579-584.
    PMID 10374851
    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
    Monosomy 7 and 7q--associated with myeloid malignancy.
    Johnson E, Cotter FE
    Blood reviews. 1997 ; 11 (1) : 46-55.
    PMID 9218106
    Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia.
    Johnson EJ, Scherer SW, Osborne L, Tsui LC, Oscier D, Mould S, Cotter FE
    Blood. 1996 ; 87 (9) : 3579-3586.
    PMID 8611680
    Evidence for two molecular steps in the pathogenesis of myeloid disorders associated with deletion of chromosome 7 long arm.
    Kiuru-Kuhlefelt S, Kristo P, Ruutu T, Knuutila S, Kere J
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1997 ; 11 (12) : 2097-2104.
    PMID 9447826
    Allelotyping of acute myelogenous leukemia: loss of heterozygosity at 7q31.1 (D7S486) and q33-34 (D7S498, D7S505).
    Koike M, Tasaka T, Spira S, Tsuruoka N, Koeffler HP
    Leukemia research. 1999 ; 23 (3) : 307-310.
    PMID 10071086
    Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases.
    Le Beau MM, Espinosa R 3rd, Davis EM, Eisenbart JD, Larson RA, Green ED
    Blood. 1996 ; 88 (6) : 1930-1935.
    PMID 8822909
    Molecular anatomy of chromosome 7q deletions in myeloid neoplasms: evidence for multiple critical loci.
    Liang H, Fairman J, Claxton DF, Nowell PC, Green ED, Nagarajan L
    Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (7) : 3781-3785.
    PMID 9520444
    Childhood monosomy 7: epidemiology, biology, and mechanistic implications.
    Luna-Fineman S, Shannon KM, Lange BJ
    Blood. 1995 ; 85 (8) : 1985-1999.
    PMID 7718870
    Cytogenetic abnormalities in primary myelodysplastic syndrome are highly predictive of outcome after allogeneic bone marrow transplantation.
    Nevill TJ, Fung HC, Shepherd JD, Horsman DE, Nantel SH, Klingemann HG, Forrest DL, Toze CL, Sutherland HJ, Hogge DE, Naiman SC, Le A, Brockington DA, Barnett MJ
    Blood. 1998 ; 92 (6) : 1910-1917.
    PMID 9731047
    Deletion of the acetylcholinesterase locus at 7q22 associated with myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML).
    Stephenson J, Czepulkowski B, Hirst W, Mufti GJ
    Leukemia research. 1996 ; 20 (3) : 235-241.
    PMID 8637218
    Cytogenetic clonality analysis in myelodysplastic syndrome: monosomy 7 can be demonstrated in the myeloid and in the lymphoid lineage.
    van Lom K, Hagemeijer A, Smit E, Hählen K, Groeneveld K, Löwenberg B
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1995 ; 9 (11) : 1818-1821.
    PMID 7475268


    This paper should be referenced as such :
    Desangles, F
    -7/del(7q) in adults
    Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):139-140.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    Other genes implicated (Data extracted from papers in the Atlas) [ 9 ]


    Translocations implicated (Data extracted from papers in the Atlas)

     del(7q) in adults

    External links

    Mitelman databasedel(7q)
    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 ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Fri Oct 8 16:35:20 CEST 2021

    Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us