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Familial monosomy 7 syndrome

Identity

Other namesFamilial leukemia or MDS associated with monosomy 7
Note Monosomy 7 is seen in a variety of hematologic disorders:
  • 1- de novo myelodysplastic disorders (MDS) and ANLL
  • 2- Therapy-related MDS and ANLL
  • 3- Childhood myeloproliferative /myelodysplastic disorder commonly referred to as the childhood monosomy 7 syndrome, which is associated with a subset of juvenile myelomonocytic leukemia (JMML, JCML).
  • 4- MDS or ANLL associated with constitutional predispositions to myeloid leukemia including Fanconi anemia, congenital neutropenia, and neurofibromatosis type 1.
  • 5- Familial monosomy 7 syndrome- Rare familial cases of MDS or ANLL associated with either complete or partial monosomy 7 have been reported in 12 pedigrees.
  • Inheritance In some pedigrees the pattern of involvement is compatible with an autosomal dominant inheritance pattern with incomplete penetrance.

    Clinics

    Phenotype and clinics
  • Disease: Hematologic disorder characterized by either marrow aplasia, dysplasia, or frank acute myeloid leukemia occurring in at least two siblings associated with either partial or complete loss of chromosome 7. The majority of reported cases of familial monosomy 7 present at an early age (20 out of 24 cases before age 20 years) with either MDS or ANLL.
  • Phenotype/cell of origin: Multipotential progenitor cell.
  • Epidemiology: There is an even male to female distribution. Median age at presentation age 8 years although adult presentations also have been reported.
  • Clinical features: The disease in some cases appears to associated with other mendelian disorders including probable Noonan's syndrome, cerebellar ataxia/atrophy, and Fanconi's anemia (monosomy 7 is also common in non-familial cases of MDS/ANLL arising in Fanconi's anemia and other contitutional disorders). Cytopenias and myelodysplasia in non-leukemic family members is common.
  • Pathology: The pathology is typical of MDS and ANLL.
  • Treatment The number of reported cases makes it difficult to draw conclusions about appropriate therapy. Allogeneic transplantation from a related sibling is problematic because of the familial predisposition to hematologic malignancies.
    Prognosis The prognosis is poor. Nearly all reported patients have died of their disease.

    Cytogenetics

    Note Complete or partial monosomy may be associated with other abnormalities including +8, 5q-, and t(1;7). Of the 12 reported cases, the lost chromosome 7 was shown to be of different parental origin in two.

    Genes involved and Proteins

    Note The available data suggest that the monosomy 7 contributes to oncogenesis by reduced gene dosage. Studies showing different parental origin of the deleted chromosome argue against a possible tumor suppressor mutated on the retained chromosome. It has been proposed that the susceptibility locus or loci located on other chromosomes acts as a mutator that promotes chromosomal instability. In some pedigrees the pattern of involvement is compatible with an autosomal dominant inheritance pattern with incomplete penetrance.

    Bibliography

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    Kamiyama R, Shibata T, Mori W
    Acta pathologica japonica. 1973 ; 23 (4) : 815-835.
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    Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia.
    Li FP, Hecht F, Kaiser-McCaw B, Baranko PV, Potter NU
    Cancer genetics and cytogenetics. 1981 ; 4 (3) : 189-196.
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    Familial leukemia and aplastic anemia associated with monosomy 7.
    Chitambar CR, Robinson WA, Glode LM
    The American journal of medicine. 1983 ; 75 (5) : 756-762.
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    Transformation of Fanconi's anemia to acute nonlymphocytic leukemia associated with emergence of monosomy 7.
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    Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7.
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    Childhood monosomy 7: epidemiology, biology, and mechanistic implications.
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    Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7. European Working Group on MDS in Childhood (EWOG-MDS).
    Hasle H, Aricˆ¾ M, Basso G, Biondi A, Cantˆ¼ Rajnoldi A, Creutzig U, Fenu S, Fonatsch C, Haas OA, Harbott J, Kardos G, Kerndrup G, Mann G, Niemeyer CM, Ptoszkova H, Ritter J, Slater R, Starˆ‡ J, Stollmann-Gibbels B, Testi AM, van Wering ER, Zimmermann M
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    Familial acute myeloid leukemia with monosomy 7: late onset and involvement of a multipotential progenitor cell.
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    PMID 10640152
     
    Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene.
    Minelli A, Maserati E, Giudici G, Tosi S, Olivieri C, Bonvini L, De Filippi P, Biondi A, Lo Curto F, Pasquali F, Danesino C
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    Contributor(s)

    Written07-2001Jay L. Hess

    Citation

    This paper should be referenced as such :
    Hess JL . Familial monosomy 7 syndrome. Atlas Genet Cytogenet Oncol Haematol. July 2001 .
    URL : http://AtlasGeneticsOncology.org/Kprones/FamilMono7ID10059.html

    The various updated versions of this paper are referenced and archived by INIST as such :
    http://documents.irevues.inist.fr/bitstream/2042/37769/1/07-2001-FamilMono7ID10059.pdf   [ Bibliographic record ]

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