A case of atypical myelodysplastic syndrome with micromegakaryocytes, normal platelet count, and t(3;12)(q21;p13) with inv(3)(q21q26)
β Scribed by Susanne Schnittger; Claudia Schoch; Berthold Streubel; Hans-Fokke Hinrichs; Burkhardt Otremba; Raza Parwaresch; Christa Fonatsch
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 702 KB
- Volume
- 20
- Category
- Article
- ISSN
- 1045-2257
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β¦ Synopsis
A 49-year-old woman patient with atypical myelodysplastic syndrome (MDS) showing a der(3)t(3;12)(q21;p13), and der(12)t(3; 12)(q21;p13)inv(3)(q21q26) as an acquired chromosomal abnormality in the bone marrow is described. The chromosomal breakpoints of the presented complex aberration with combination of the inv(3)(q21q26) and t(3;12)(q21;p13) were defined by fluorescence in situ hybridization (FISH) with yeast artificial chromosomes (YACs). The inv(3) is a relatively frequent chromosomal rearrangement in patients with myeloid malignancies and dysmegakaryopoiesis and t(3;12)(q26;p13) has also been reported as a recurrent abnormality in MDS and in blast crisis of chronic myelogenous leukemia (CML). Whereas the t(3;12), inv(3), and t(3;3) are associated with a very poor prognosis, our patient surprisingly had a mild clinical course.
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