The Pathologic Spectrum of Myelodysplastic Syndrome with Isolated del(5q): A Retrospective Study of 80 Cases.
Dong Chen, James D Hoyer, Mrinal M Patnaik, Rhett P Ketterling, Ayalew Tefferi, Curtis A Hanson. Mayo Clinic, Rochester, MN
Background: Myelodysplastic syndrome (MDS) with isolated del(5q), also known as 5q- syndrome, has the characteristic clinicopathologic features of macrocytic anemia, absent thrombocytopenia, dysmegakaryopoiesis, and generally favorable clinical outcome. Complementary to our recent study (Leukemia,24(7):1283-9), we report here the detailed bone marrow (BM) morphologic spectrum of the 5q- syndrome.
Design: We identified 80 cases of isolated del(5q) from Mayo Clinic cytogenetic databases (1989-2009). We reviewed both clinical and laboratory data; and morphologically examined Giemsa-Wright-stained peripheral blood and BM aspirate smears, and H&E-stained biopsy sections. BM studies also included butyrate/chloroacetate esterase (BE/CLE) and iron stains on BM aspirate smears and reticulin stains on BM biopsies. Potential prognostic impacts of all examined pathologic variables were analyzed by multivariate analysis.
Results: The median age of these patients (52 women and 28 men) at diagnosis was 74 yrs (range 28-89). The initial presentations included anemia (n=79, 99%), thrombocytopenia (n=20, 25%), thrombocytosis (n=5, 6%), neutropenia (n=16, 20%) and neutrophilia (n=4, 5%). Markedly hypercellular (≥80%) BM were found in 12 cases (15%). BM morphologic features inlcuded dyserythropoiesis (n=28, 34%), dysmegakaryopoiesis (n=69, 86%), and reticulin fibrosis (n=4, 5%). Dysgranulopoiesis was identified in 21 (25%) cases. Of the 21 cases, 15 cases had morphologic evidence of dysgranulopoiesis with 9 of the 15 cases also having increased dual BE/CLE-positive myeloid precursors. The remaining 6 cases (8%) only had increased dual-BE/CLE-positive myeloid precursors. To better evaluate their pathologic spectrum, the 80 cases were morphologically classified into 4 categories according to 2008 WHO criteria: refractory anemia with unilineage dysplasia (n=36, 45%), refractory cytopenia with multilineage dysplasia (n=35, 44%), MDS/myeloproliferative neoplasm (n=1, 1%) and normal BM (n=8, 10%). Only 40 cases (50%) had all of the characteristic 5q- syndrome features. Multivariate analyses showed that of all the pathologic variables, only dysgranulopoiesis had an adverse prognostic impact (p<0.05).
Conclusions: BM specimens with isolated del(5q) have a broad pathologic spectrum. Many cases do not have all of the characteristic features of 5q- syndrome, and some may even have normal BM findings. Complementary to morphologic evaluation, a BE/CLE stain of BM aspirate smear could potentially improve the sensitivity of detecting dysgranulopoiesis, an independent adverse prognostic indicator.
Monday, February 28, 2011 1:00 PM
Poster Session II # 169, Monday Afternoon