Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects

Cancer Genetics and Cytogenetics

Volumn 148, Issue 2, 2004, Pages 155-158

  Maserati, Emanuela ^a   Minelli, Antonella ^b   Menna, Giuseppe ^c   Cecchini, Maria Paola ^a   Bernardo, Maria Ester ^d   Rossi, Gabriele ^d   De Filippi, Paola ^b   Lo Curto, Francesco ^a   Danesino, Cesare ^b   Locatelli, Franco ^d   Pasquali, Francesco ^a  

^a UNIVERSITY OF INSUBRIA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c Ospedale Pausilipon   (Italy)

^d Oncoematologia Pediatrica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMPHOTERICIN B; CYCLOSPORIN A; HLA ANTIGEN; METHOTREXATE; TACROLIMUS;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE KIDNEY FAILURE; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; BLAST CELL; BONE MARROW; CASE REPORT; CELL TRANSFORMATION; CHROMOSOME 8; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CLINICAL OBSERVATION; CLONE; CYTOGENETICS; DISEASE ACTIVITY; DISEASE COURSE; FAMILIAL DISEASE; FAMILY; FATHER; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GRAFT VERSUS HOST REACTION; GRANULOCYTE TRANSFUSION; HUMAN; KARYOTYPE; LABORATORY TEST; MOLECULAR BIOLOGY; MONOSOMY 7; MYELODYSPLASTIC SYNDROME; NEWBORN; PARENT; PERICENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; REFRACTORY ANEMIA; TETRASOMY; TREATMENT OUTCOME; TRISOMY 21; TRISOMY 8;

EID: 9144232259     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-4608(03)00271-1     Document Type: Article

References (13)

1. Hasle H. Myelodysplastic syndromes in childhood: classification, epidemiology, and treatment. Leuk Lymphoma. 13:1994;11-26.
2. Groupe Français de Cytogénétique Hématologique. Forty-four cases of childhood myelodysplasia with cytogenetics, documented by the Groupe Français de Cytogéné tique Hématologique. Leukemia. 11:1997;1478-1485.
3. De Lord C., Powles R., Mehta J., Wilson K., Treleaven J., Meller S., Catovsky D. Familial acute myeloid leukaemia: four male members of a single family over three consecutive generations exhibiting anticipation. Br J Haematol. 100:1998;557-560.
4. Hasle H., Aricò M., Basso G., Biondi A., Cantù Rajnoldi A., Creutzig U., Fenu S., Fonatsch C., Haas O.A., Harbott J., Kardos G., Kerndrup G., Mann G., Niemeyer C.M., Ptoszkova H., Ritter J., Slater R., Starý J., Stollmann-Gibbels B., Testi A.M., van Wering E.R., Zimmermann M. European Working Group on MDS in Childhood (EWOG-MDS). Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7. Leukemia. 13:1999;376-385.
5. Kwong Y.L., Ng M.H., Ma S.K. Familial acute myeloid leukemia with monosomy 7: late onset and involvement of a multipotential progenitor cell. Cancer Genet Cytogenet. 116:2000;170-173.
6. Kumar T., Mandla S.G., Greer W.L. Familial myelodysplastic syndrome with early age of onset. Am J Hematol. 64:2000;53-58.
7. Minelli A., Maserati E., Giudici G., Tosi S., Olivieri C., Bonvini L., De Filippi P., Biondi A., Lo Curto F., Pasquali F., Danesino C. Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene. Cancer Genet Cytogenet. 124:2001;147-151.
8. Maserati E., Aprili F., Vinante F., Locatelli F., Amendola G., Zatterale A., Milone G., Minelli A., Bernardi F., Lo Curto F., Pasquali F. Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosomes Cancer. 33:2002;93-97.
9. Smith O.P., Hann I.M., Chessells J.M., Reeves B.R., Milla P. Haematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol. 94:1996;279-284.
10. Song W.-J., Sullivan M.G., Legare R.D., Hutchings S., Tan X., Kufrin D., Ratajczak J., Resende I.C., Haworth C., Hock R., Loh M., Felix C., Roy D.-C., Busque L., Kurnit D., Willman C., Gewirtz A.M., Speck N.A., Bushweller J.H., Li F.P., Gardiner K., Poncz M., Maris J.M., Gilliland D.G. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 23:1999;166-175.
11. Roumier C., Fenaux P., Lafage M., Imbert M., Eclache V., Preudhomme C. New mechanisms of AML1 gene alteration in hematological malignancies. Leukemia. 17:2003;9-16.
12. Brandwein J.M., Horsman D.E., Eaves A.C., Eaves C.J., Massing B.G., Wadsworth L.D., Rogers P.C.J., Kalousek D.K. Childhood myelodysplasia: suggested classification as myelodysplastic syndromes based on laboratory and clinical findings. Am J Pediatr Hematol Oncol. 12:1990;63-70.
13. Seghezzi L., Dellavecchia C., Maserati E., Minelli A., Carrà A., Locatelli F., Argusti A., Lo Curto F., Danesino C., Pasquali F. Ph-positive CML in blastic phase with monosomy 7 in a Down syndrome patient: monitoring by interphase cytogenetics and demonstration of maternal allelic loss. Cancer Genet Cytogenet. 99:1997;77-80.