Monosomy X as a recurring sole cytogenetic abnormality associated with myelodysplastic diseases.
Solitary loss of the X chromosome is associated with Turner syndrome and not hematological disorders. We describe five patients with non-constitutional loss of the X chromosome as the sole cytogenetic abnormality in their bone marrow. Three of the five patients had myelodysplastic syndrome (MDS), one case had AML M-6 with evidence suggestive of an evolving MDS, and the last patient had a dysplastic marrow. A review of the literature identified sporadic reports of an association of monosomy X and several hematologic disorders, as well as a few solid tumors. In this series of patients, monosomy X as a sole non-constitutional cytogenetic abnormality in bone marrow is associated with myelodysplastic diseases. In addition, fluorescence in situ hybridization analysis with an X centromere probe indicated that monosomy X was present in erythroid precursors, myeloblasts, promyelocytes, myelocytes, metamyelocytes, granulocytes, and monocytes, while mature lymphocytes presented with two copies of the X chromosome. The molecular cytogenetic evidence supports the diagnosis of a myelodysplastic disorder in these cases and documents the potential role of FISH in hematological disease.
Abruzzese
E
E
Department of Pediatrics, Universita degli Studi di Roma, Tor Vergata, Italy.
Rao
P N
PN
Slatkoff
M
M
Cruz
J
J
Powell
B L
BL
Jackle
B
B
Pettenati
M J
MJ
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics*; D008875:Middle Aged; D009006:Monosomy / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*