Abstract
Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC) and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH). In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS.
Highlights
Myelodysplastic syndromes (MDS) are a heterogeneous group of acquired clonal hematopoietic stem cell disorders with increased risk of acute myeloid leukemia (AML) development
myelodysplastic syndrome (MDS) are associated with clonal cytogenetic abnormalities in around 50% of patients [2] being trisomy 8 the most common chromosome gain
According to the IPSS-R, isolated trisomy 8 is included in the intermediate cytogenetic risk group [4]
Summary
Myelodysplastic syndromes (MDS) are a heterogeneous group of acquired clonal hematopoietic stem cell disorders with increased risk of acute myeloid leukemia (AML) development. Around 50% of MDS cases presented clonal cytogenetic abnormalities [2]. Trisomy 8 (+8) is the most common chromosome gain in MDS and is present in 5–7% of them [3]. In contrast to other recurring chromosomal alterations, the presence of +8 as the sole cytogenetic abnormality is not considered definitive evidence for MDS in the absence of morphological criteria [2]. Some studies suggested that +8 could be present as a cT8M in myeloid malignancies [7,8,9,10], and Maserati et al reported that +8 is constitutional in 15–20% of MDS and acute leukemia [9]. We have analyzed the presence of +8 in granulocytes and CD3+ lymphocytes from
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