A case of myelodysplastic syndrome with high platelet counts and a t(3;8)(q26;q24).
A 62-year-old male patient with refractory anemia with excess of blasts had a t(3;8)(q26;q24) as an acquired chromosomal abnormality in the bone marrow. This aberration has not been previously reported as a sole anomaly in any type of neoplasm, including myelodysplastic or myeloproliferative disorders. The findings of disturbed thrombocytopoiesis with high platelet counts and micromegakaryocytes in the bone marrow support the idea that alteration of the transferrin receptor gene, localized to 3q26, may be of pathogenetic significance.
Mertens
F
F
Johansson
B
B
Billström
R
R
Engquist
L
L
Mitelman
F
F
D000754:Anemia, Refractory, with Excess of Blasts / Q000097:blood / Q000235:genetics*; D001853:Bone Marrow / Q000648:ultrastructure; D002871:Chromosome Banding; D002893:Chromosomes, Human, Pair 3; D002898:Chromosomes, Human, Pair 8; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008875:Middle Aged; D010976:Platelet Count; D011990:Receptors, Transferrin / Q000235:genetics; D014178:Translocation, Genetic
D005819:Genetic Markers; D011990:Receptors, Transferrin