Myelodysplastic syndrome (MDS) is a group of clonal hematopoietic diseases characterized by
cytopenia, dysplasia and increased risk of development to
acute myeloid leukemia (AML). Unfavorable cytogenetic changes such as complex karyotypes or chromosome 7 anomalies are predictive of the progression to AML and poor prognosis.
Central diabetes insipidus (CDI) is the result of a deficiency of
arginine vasopressin, and its major causes are idiopathic, primary or secondary
tumors, neurosurgery and
trauma. Importantly, CDI is a rare complication of MDS. To date, only 5 cases of MDS co-occurring with CDI have been reported; 3 of 5 had
cytogenetic abnormalities uncovered by metaphase cytogenetics and 3 of 5 evolved to AML. Here, we describe a 74-year-old woman who presented with CDI as her initial symptom of MDS and eventually progressed to AML. The metaphase cytogenetics, combined with the single-nucleotide polymorphism array (SNP-A)-based karyotyping, with superiority in resolution and detecting copy number variation, revealed a complex karyotype that included
monosomy of chromosome 7, deletion of 20q, and absence of heterogeneity (AOH) in more than one chromosome. To the best of our knowledge, this is the first case report of MDS co-occurring with CDI with numerous
cytogenetic abnormalities revealed by the SNP-A-based karyotyping. Our case supports that the
cytogenetic abnormalities may be associated with the clinical features and the prognosis of MDS co-occurring with CDI. The SNP-A-based karyotyping is helpful in revealing more subtle
cytogenetic abnormalities and unveiling their roles in the pathogenesis of MDS.