Correlations between cytogenetics and morphology in myelodysplastic syndromes

Abstract

In order to detect possible relationships between cytogenetic abnormalities and morphologic features in myelodysplastic syndromes (MDS), 48 patients with MDS were investigated. Clonal cytogenetic abnormalities were present in bone marrow cells from 27 patients (56%). The most frequent single anomaly was del (5 q) (10 cases), followed by monosomy 7 (3 cases), trisomy 8 (3 cases) and del (20 q) (2 cases). Complex anomalies were present in 6 patients. Morphologically, according to the French-American-British (FAB) classification: 17 cases were considered as refractory anemia (RA), 17 as RA with excess of blasts (RAEB), 2 as RAEB in transformation, 2 as acquired idiopathic sideroblastic anemia and 10 as chronic myelomonocytic leukemia. With regard to the FAB classification, del (5 q) was often associated with RA and complex cytogenetic anomalies with RAEB. When myelodysplasia was studied in individual myeloid lineages, del (5 q) was associated with hypolobulated megakaryocytes, monosomy 7 with micromegakaryocytes and complex chromosomal anomalies with the association of two or more features of dysmegakaryocytopoiesis. Del (11 q) was associated with increased iron storage and del (20 q) with marked dyserythropoiesis. No correlation was observed between cytogenetic anomalies and features of dysgranulocytopoiesis.

Distinct clinical outcomes for cytogenetic abnormalities evolving from aplastic anemia

“…In primary MDS, abnormalities of chromosome 5 are most frequent (10%-37% of patients), [21][22][23][24][25][26][27][28] but this chromosome is only occasionally affected in AA. 20qϪ is also found more often in primary MDS in comparison to AA.…”

“…20qϪ is also found more often in primary MDS in comparison to AA. 21,22 Conversely, monosomy 7, most prominent in late evolution of MDS from AA, occurs in a minority of primary MDS, 6.5% to 11%. [20][21][22][23][24][25][26][27] Trisomy 8 appears to have a comparable incidence among cytogenetic abnormalities evolving from AA and For personal use only.…”

“…[21][22][23][24][25][26][27][28] In MDS, the prevalence of patients with normal karyotypes ranges from 31% to 60%. 17,[21][22][23]25,27 Except for the evolution to leukemia or RAEBt, diagnosis of MDS with normal karyotype in the context of AA is hampered by many subjective factors and was not a subject of this study.…”

Antithymocyte globulin (ATG)-based therapy in patients with myelodysplastic syndromes

“…40 Even so, some studies suggest that clonal hematopoiesis occurs in aplastic anemia and this observation together with the fact that a subset of patients with aplastic anemia evolve to MDS and even leukemia further indicates linkage with MDS. [41][42][43][44][45][46][47] ATG is cytolytic to T cells and both ATG and cyclosporine inhibit T-cell function, especially the production of suppressor lymphocytes. 48,49 In addition to its immunosuppressive action, ATG has been shown to have direct effects on hematopoietic progenitor cells, in that it increases colony formation from primitive hematopoietic cells.…”

Cytogenetic Evidence for Extramedullary Blast Crisis with t(8;13)(q11;p11) in Chronic Myelomonocytic Leukemia

“…We report on a case that presented with this charac teristics, was diagnosed by biopsy as lymphocytic lym phoma and responded on repeated occasions to treatment with CHOP. Chromosome 8 is frequently involved in mye lodysplastic syndrome [5], but the translocation observed in our case has not been observed earlier. It also demon strates a rare example of CMML presenting as extrame dullary blast crisis mimicking a lymphocytic lymphoma.…”