When karyotype is decisive for myelodysplastic syndromes diagnosis

The myelodysplastic syndromes (MDS) are a group of heterogeneous clonal hematopoietic stem cell disorders that results in peripheral blood (PB) cytopenias and bone marrow (BM) dysplasia. Dysplasia is the hallmark of the disorder, and must exceed the threshold of 10%. Conventional karyotype (KT) has a role in the classification and prognostication of subtypes. In daily practice, many cases are diagnosed in face of exuberant clinical complains, but cases with dismal evidences pose real difficulties to definitively conclude the case.

The objective of this study is to detect cases in which no morphology evidence of dysplasia or increased blasts were observed but KT was decisive for MDS diagnosis. 666 cases were admitted to rule out MDS.

There were found 5 (0.75%) cases who presented no evident dysplasia morphology or whose dysplasia was borderline but the karyotype was decisive because showed clonal evidence. The karyotype was: case 1: 46,XY,del(5q)(q13q33),del(11)(q13q23)[7]/46,XY[13]; case 2: 46,XX,del(11)(q21q23)[20]; case 3: 46,XX,del(7)(q22q34)[4]/46,XX[8]; case 4: 47,XX,del(5)(q13q33),+mar[12]/46,XX[8] and case 5: 46,XXt(2;11)(p21;q24),del(4)(?q25),del(21)(q22)[14]/46,XX[6].

Patients with cytopenia and insufficient or borderline evidence of dysplasia may experience a long journey before a MDS diagnosis is made. Cytogenetics studies may abbreviate this pathway when clonal aberrations considered presumptive of MDS are detected. This study shows that karyotype should still be considered as a diagnostic tool.