Issues in the Pathology of the Myelodysplastic Syndromes

Diagnostic utility of flow cytometric immunophenotyping in myelodysplastic syndrome

“…This is often due to failure to obtain suitable bone marrow aspirates, either because of hypocellularity or fibrosis of the marrow. 3,5,6 The distinction between hypoplastic MDS and aplastic anemia can be especially difficult because both can present with hypocellular bone marrows and pancytopenia. Furthermore, patients with aplastic anemia can develop MDS and even acute leukemia years after successful treatment by antilymphocyte globulin.…”

“…6,7 The standard criteria for the diagnosis of MDS are based upon morphology and demonstration of clonal cytogenetic abnormalities. 1,2,4,5 In this study we evaluated the utility of flow cytometric immunophenotyping in the diagnosis of MDS. We studied 45 patients with straightforward MDS (as diagnosed by morphologic evaluation of the initial bone marrow specimen) and compared results with those obtained in healthy controls, patients with aplastic anemia, and patients in complete remission after treatment for nonmyeloid neoplasia.…”

“…Although diagnostic criteria are well established, a significant number of patients have blood and bone marrow findings that make diagnosis and classification difficult. [5][6][7] Morphology may be difficult to evaluate in some patients, either due to hypocellularity or fibrosis of the marrow. Because hypocellular marrows in the setting of pancytopenia may be observed in MDS or aplastic anemia, the differentiation of MDS from aplastic anemia based upon morphology alone may be impossible if bone marrow aspirates do not yield a sufficient number of cells for accurate assessment.…”

“…In addition, bone marrow fibrosis, a nonspecific finding in a number of acute and chronic disorders, may obscure specific morphologic features and make a diagnosis of MDS challenging. 5,6 Although cytogenetic evaluation is helpful in the diagnosis of MDS and provides prognostic information as well, clonal karyotypic abnormalities are present in only 20% to 60% of MDS cases. [8][9][10] Molecular studies have been investigated as a diagnostic modality in MDS, but the relatively low incidence of defined translocations makes this technique not generally applicable.…”

Involvement of transforming growth factor-β and thrombopoietin in the pathogenesis of myelodysplastic syndrome with myelofibrosis

“…[1][2][3][4][5][6] Compared to MDS-without MF (MDS-MF (À)), MDS-MF ( þ ) is characterized by the following hematologic features (Sultan C et al Acta Haematol 1987; 78: 91-93; abstract) [1][2][3][4][5][6][7][8][9] : (1) marked fibrosis of bone marrow; (2) increased numbers of small hypolobulated megakaryocytes in the bone marrow; (3) modest or absent visceral enlargement; (4) poor prognosis due to high incidence of bone marrow failure.…”