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 childhood

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

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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 1152
Note -7/del(7q) is a more common entity of blood malignancies in the adults
 
  del(7q) G- banding - Courtesy Jean-Luc Lai and Alain Vanderhaegen

Clinics and Pathology

Disease myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML); may occur:

1- de novo,
2- be secondary to treatments with alkylating agents, or
3- in patients with predisposing leukemia syndromes: Fanconi anemia, Kostmann syndrome, Shwachman-Diamond syndrome, Neurofibromatosis type I,Down syndrome, familial monosomy 7;

Phenotype / cell stem origin MDS cases : more often RAEB/RAEB-T, CMML, or the following specific childhood presentations : juvenile chronic leukemia (JCML), and monosomy 7 syndrome; AML most often M4 or M6
Epidemiology the most frequent abnormality in childhood myeloid disorders; found in 30% of the MDS and in 4% of the AML; sex/age: 90% of the children with this anomaly are younger than 5 years; before 5 years, there is a majority of boys (3M/2F), with -7 as the sole cytogenetic abnormality; after 5 years, girls are in majority, and the -7/del(7q) is then often associated with additional anomalies
Clinics several clinical forms: the most frequents are JCML and the monosomy 7 syndrome; these disorders have some common features:
  • JCML is defined by clinical and cytological observations; 6 to 24% of JCML
  • children show monosomy 7 in the bone marrow;
  • monosomy 7 syndrome is a cytogenetic-defined entity
  • the therapy related cases of monosomy 7 had been exposed to alkylating agents, they have a myelodysplastic phase preceding acute leukemia with multilineage bone marrow dysplasia. In opposite, therapy including anti-topoisomerase drug induce myelodysplastic syndromes and leukemias with 11q23 abnormalities
  • Cytology
  • before 5 years, the disease presents as a specific myeloid leukemia characterized by leucocytosis with monocytosis but thrombopenia, anemia in blood and hyperplasia of the bone marrow; for some authors, the diagnosis of monosomy 7 syndrome should be made in any FAB class (principally CMML), whereas the diagnosis of JCML applies to cases of CMML with fetal hemoglobin > 10 %,and with no monosomy 7; the remaining CMML are diagnosed as CMML; for others, a - 7 does not exclude the diagnosis of JCML; however, cases of JCML without visible monosomy 7 appear to have no loss of heterozygosity on chromosome 7
  • after 5 years, the disease presents as a MDS with cytopenia in blood and hypodysplasia of bone marrow, like in adults
  • Prognosis slow evolution of the AML in infants before 6 month; for children older than 1 year, the survival is less than 2 years; the European Working Group on MDS in Childhood noted a superior survival for children with MDS having a - 7 alone than for those with other anomalies (3 yr survival of 56% vs 24% ); but this was the reverse in children with AML

    Cytogenetics

    Cytogenetics Morphological deletion (7q): 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
  • 7 alone is observed in 75% of MDS cases and in 32% of AML; the specific additional anomalies are -5/del(5q), and 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 frequent in secondary MDS or AML, and 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

    5th International Symposium on Myelodysplastic Syndromes. Prague, Czech Republic, 21-24 April 1999. Abstracts.
    Leukemia research. 1999 ; 23 Suppl 1 : S1-87.
    PMID 10380714
     
    Monosomy 7 syndrome. Clinical heterogeneity in children and adolescents.
    Daghistani D, Toledano SR, Curless R
    Cancer genetics and cytogenetics. 1990 ; 44 (2) : 263-269.
    PMID 2297685
     
    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
     
    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
     
    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
     
    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
     
    Glutathione-S-transferases pi, alpha, mu and mdr1 mRNA expression in normal lymphocytes and chronic lymphocytic leukemia.
    Marie JP, Simonin G, Legrand O, Delmer A, Faussat AM, Lewis AD, Sikic BI, Zittoun R
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1995 ; 9 (10) : 1742-1747.
    PMID 7564519
     
    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
     
    Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system.
    Passmore SJ, Hann IM, Stiller CA, Ramani P, Swansbury GJ, Gibbons B, Reeves BR, Chessells JM
    Blood. 1995 ; 85 (7) : 1742-1750.
    PMID 7703482
     
    Therapy-related myelodysplastic syndrome and acute myeloid leukemia in children: correlation between chromosomal abnormalities and prior therapy.
    Rubin CM, Arthur DC, Woods WG, Lange BJ, Nowell PC, Rowley JD, Nachman J, Bostrom B, Baum ES, Suarez CR
    Blood. 1991 ; 78 (11) : 2982-2988.
    PMID 1954385
     
    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
     

    Citation

    This paper should be referenced as such :
    Desangles, F
    -7/del(7q) in childhood
    Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):141-143.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Anomalies/del7qChildID1152.html


    External links

    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 ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
     
     
    Disease database-7/del(7q) in childhood
    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 Jun 30 11:22:12 CEST 2017


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

    For comments and suggestions or contributions, please contact us

    jlhuret@AtlasGeneticsOncology.org.