Abstract
Background: Myelodysplastic syndromes (MDS) are subtypes of hematological disorders which are known to have partial bone marrow dysplasia, peripheral cytopenia, and later on an increased risk to develop acute myeloid leukemia. Chromosomal aberrations are detected in ~50% of cases of de novo MDS cases and the most common chromosomal abnormalities of this entity include complete or partial monosomy of chromosomes 5 and 7, partial deletion of 20q and 12p, trisomy 8, and 11q23 aberrations. A few primary and/or secondary MDS cases combined with other cancer have been reported. Case Presentation: We report here an adult MDS associated with squamous cell carcinoma (SCC). G-banding and array-proven multicolor banding (aMCB) revealed an unbalanced translocation der(7)t(1;7)(q21;q21), which led to 1q partial trisomy and 7q partial monosomy. Immunophenotype of this case was consistent with refractory anemia with excess of blasts (RAEB-2) according to World Health Organization (WHO) classification. Conclusions: As far as we know, this is the first adult MDS case associated with SCC and an unbalanced translocation t(1;7). Our patient received first cycle of azacitidine treatment and he showed bilateral pleural effusion as a secondary event. This toxicity is not limited to the first cycle as in previous MDS cases; our case is the first one to shown this toxicity as a secondary event of azacitidine treatment. As less than 10 cytogenetcially comparable cases without SCC were reported before in male MDS, we carefully conclude that this cytogenetic aberration may be a hint on a new gender associated MDS subgroup.
Highlights
Myelodysplastic syndromes (MDS) belong to the hematological disorders
Case Presentation: We report here an adult MDS associated with squamous cell carcinoma (SCC)
G-banding and array-proven multicolor banding revealed an unbalanced translocation der(7)t(1;7)(q21;q21), which led to 1q partial trisomy and 7q partial monosomy
Summary
Myelodysplastic syndromes (MDS) belong to the hematological disorders. Characteristics for them are ineffective hematopoiesis, bone marrow dysplasia, peripheral cytopenia, and an increased risk to progress to an acute myeloid leukemia (AML). Chromosomal aberrations are detected in ~50% of cases of de novo MDS; here t-MDS cases show the highest prevalence of cases with such acquired genetic changes, i.e. 90%. Oral squamous cell carcinoma (OSCC) is the entity being present in more than 90% of cases with SCC [3]. Only few primary and/or secondary MDS cases combined with other cancer are described in the literature [5]-[10]. Trisomy or duplication of the long arm of chromosome 1 is the most frequent abnormality in MDS [6]. We report an MDS case associated with SCC that showed partial trisomy 1q21-qter together with a break in 7q21 due to a derivative chromosome 7. The patient showed bilateral pleural effusion as a secondary event after first cycle of azacitidine treatment
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