TY - JOUR
T1 - Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects
AU - Maserati, Emanuela
AU - Minelli, Antonella
AU - Menna, Giuseppe
AU - Cecchini, Maria Paola
AU - Bernardo, Maria Ester
AU - Rossi, Gabriele
AU - De Filippi, Paola
AU - Lo Curto, Francesco
AU - Danesino, Cesare
AU - Locatelli, Franco
AU - Pasquali, Francesco
PY - 2004
Y1 - 2004
N2 - A family is reported, in which two sisters presented with myelodysplastic syndrome (MDS), namely refractory anemia with excess of blasts in transformation (RAEB-t), and refractory anemia (RA). 14 Bone marrow chromosome changes were present in both: trisomy and tetrasomy 8 (with a pericentric inversion of one chromosome 8) in the older sister, and monosomy 7 (with clones with additional trisomies 19 and 21) in the younger one. Molecular data were obtained on the parental chromosome involved in these numerical anomalies, which proved to be of paternal origin in these cases. The observations of this family, and a review of familial cases of MDS/acute myeloid leukemia (AML), led us to consider that they may be divided into two groups: those which arise on the basis of a Mendelian predisposing disorder exerting a mutator effect, often with the acquisition of monosomy 7, and those in which no specific Mendelian predisposing disease is recognized, as the familial monosomy 7 cases and the one reported here. We postulate that in these families an inherited mutator effect is present and that it causes a karyotype instability, which leads to MDS/AML, often through the acquisition of monosomy 7 and trisomy 8. (C) 2004 Elsevier Inc. All rights reserved.
AB - A family is reported, in which two sisters presented with myelodysplastic syndrome (MDS), namely refractory anemia with excess of blasts in transformation (RAEB-t), and refractory anemia (RA). 14 Bone marrow chromosome changes were present in both: trisomy and tetrasomy 8 (with a pericentric inversion of one chromosome 8) in the older sister, and monosomy 7 (with clones with additional trisomies 19 and 21) in the younger one. Molecular data were obtained on the parental chromosome involved in these numerical anomalies, which proved to be of paternal origin in these cases. The observations of this family, and a review of familial cases of MDS/acute myeloid leukemia (AML), led us to consider that they may be divided into two groups: those which arise on the basis of a Mendelian predisposing disorder exerting a mutator effect, often with the acquisition of monosomy 7, and those in which no specific Mendelian predisposing disease is recognized, as the familial monosomy 7 cases and the one reported here. We postulate that in these families an inherited mutator effect is present and that it causes a karyotype instability, which leads to MDS/AML, often through the acquisition of monosomy 7 and trisomy 8. (C) 2004 Elsevier Inc. All rights reserved.
KW - N/A
KW - N/A
UR - http://hdl.handle.net/10807/260471
U2 - 10.1016/s0165-4608(03)00271-1
DO - 10.1016/s0165-4608(03)00271-1
M3 - Article
SN - 0165-4608
VL - 148
SP - 155
EP - 158
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
ER -