Three patients presenting with acute leukemic disorder and chromosome 3 rearrangement involving bands q21;q26 are reported, and the literature on chromosome 3q abnormalities is reviewed. All reported patients carrying a paracentric 3q inversion or a translocation 3;3 with breakpoints in q21;q26 had a myelodysplastic or acute leukemic disorder with a normal or elevated platelet count and lack of response to cytotoxic drug therapy. They showed an associated incidence of −7 or 7q− anomalies higher than de novo acute leukemia and appear to constitute a definite subgroup of the leukemic disorders with very poor prognosis. The majority of patients showing other chromosome 3 long arm rearrangements showed evidence of leukemic process, were in blastic crisis, or had been exposed to chemotherapy, exhibiting also a higher incidence of associated −5 or −7 cytogenetic abnormalities than is observed in patients not exposed to toxic agents.
Immune thrombocytopenic purpura (ITP), alone or in combination with autoimmune hemolytic anemia (Evans syndrome) and/or autoimmune neutropenia, is frequent in patients with common variable immunodeficiency (CVID). A 34-year-old man with CVID had long-standing unresponsive ITP. The patient had a 9-year history of CVID on substitutive therapy with intravenous immunoglobulin (IVIG). The clinical course of CVID was complicated with refractory fistulizing inflammatory bowel disease, nodular regenerative hyperplasia of the liver, splenomegaly, severe portal hypertension, and hypercatabolism of IgG. ITP was refractory to medical therapy, including different combinations of corticosteroids, high-dose IVIG, azathioprine, and vincristine. Splenectomy was not performed because of severe portal hypertension. He received a total five doses of rituximab, a monoclonal antibody directed against CD20 antigen, at a dose of 375 mg/m(2). After an initially slow response, his platelet count increased to more than 50,000/microL by the fourth week of infusion. Therapy was well tolerated, and B lymphocytes were effectively depleted from the peripheral blood. The patient was completely tapered off glucocorticoids and maintained platelets at above 40,000/microL. The patient has not taken immunosuppressive agents for 11 months. Early treatment with rituximab might be an option for patients with CVID and ITP that do not respond to other treatments or for patients for whom a splenectomy is contraindicated.
7612 Background: Auto-SCT is the preferred treatment modality for MM. From the results of IFM 9502 (Moreau et al. Blood, 2002) melphalan 200 mg/m2 was considered the new standard as conditioning regimen due to its lower toxicity. However, many chemotherapy regimens have been tested. We present our results with two cohorts of consecutive patients (pts) diagnosed of MM and treated with Auto-SCT between 1996 and 2005 in our BMT Unit. Methods: Following induction chemotherapy (median of 6 courses) 20 pts were conditioning with busulfan 16 mg/kg + melphalan 140 mg/m2 (BuMel) and 23 (since September-2002) with melphalan 200 mg/m2 (Mel-200). Clinical features: median age (BuMel vs Mel-200) 55 vs 58 (p=0.5); female sex 10 vs 10; Bence-Jones MM 5 vs 5; renal failure (B) 2/20 (10%) vs 7/23 (30%)(p=0.48); previous treatment with local irradiation 6/20 vs 3/23; status previous Auto-SCT (complete remission, CR) 7/20 (35%) vs 6/23 (26%), p=0.5. A median of 4.8 vs 4.4 x 10e6/kg CD34+ cells were infused, respectively (p=0.15). Results: Four toxic deaths: 2 pts by hemorrhagic cystitis-enterocolitis (at day +84 and +96), 1 pt with disseminated candidiasis (day +7), and 1 pt by pulmonary fibrosis (day +452). At 3 months following Auto-SCT, 13/19 (68%) treated with BuMel and 12/23 (52%) of those treated with Mel-200 achieved CR (p=0.28). At 24 months, probability of remaining disease free was 87% for BuMel group and 55% for Mel-200 (p=0.08). Conclusions: 1) Conditioning regimen BuMel was associated with a higher toxicity than Mel-200, as well as a higher mortality treatment related. 2) However, a trend for higher CR rates and probability of disease free progression were shown in BuMel group without statistical significance [Table: see text] No significant financial relationships to disclose.
WHO criteria defines platelet counts above 600×109/L as the threshold for essential thrombocythemia (ET) diagnosis. It has been argued that such threshold excludes a number of patients with ET with platelet counts below 600×109/L. Recently, a proposal for revision of the World Health Organization (WHO) diagnostic criteria for ET has been published, which includes the combination of histological bone marrow study and testing of JAK2 mutation. Design and methods: Retrospective analysis of 92 patients with ET diagnosis between 1989 and February 2008, isolating the subgroup of patients with platelet counts below 600×109/L. The aim of this study was to analyze the applicability of the 2008 WHO criteria in this subgroup. Results: Of the 92 patients, 30 patients did not fulfill the WHO criteria due to platelet counts <600×109/L and in some cases also due to the coexistence of alternative causes of thrombocytosis. There were no significant differences between the entire group and the borderline platelet count subgroup in demographics, clinical and laboratory parameters (Table 1). The median age of the borderline platelet count group was 51 years (range 19–83 years) and 20 were female (70%). At diagnosis their median platelet count was 527×109/L (range 424–597). Fifteen patients (50%) showed the presence of JAK2 mutation. Remarkably, 74% of the patients presented as high-intermediate risk at diagnosis. From the 30 patients who did not fulfill the WHO criteria due to low platelet counts, 26 (87%) satisfied the modified criteria allowing ET diagnosis. Among them, 1 patient showed an alternative cause of thrombocytosis, however JAK2 mutation was positive confirming the primary cause of the disorder. Four patients remained not fulfilling the new criteria due to insufficient bone marrow sample or incompatible histology, however one of these patients showed JAK2 mutation confirming ET. The median follow-up was 2.54 years (range 0.07–18.7). During this period, none of the 30 patients had a spontaneous decrease of platelet count to within the normal range. Furthermore, transformation from ET to IMF was observed in 2 cases supporting the diagnosis of ET. During follow-up, 27 out of 30 patients were treated with antiaggregating drugs, 3 with antithrombotic therapy, and 20 with myelosuppressive therapy. The 11 patients who did not receive myelosuppressive therapy remained with platelet counts above 400×109/L. Conclusions: In our study, patients with platelet counts below 600×109/L did not show significant differences compared with the whole ET patients group. This subgroup can be diagnosed as having ET following the 2008 WHO criteria. The detection of JAK2 mutation in this setting enables the accurate diagnosis not only in cases with borderline thrombocytosis but more importantly in cases with alternative potential causes and also in cases where bone marrow sample is not available or incompatible. This observation raises de question of the role of bone marrow histology as a subjective diagnostic tool in ET diagnosis as opposed to JAK2 mutation detection. In JAK2 negative patients, subsequent follow-up of untreated patients confirmed the diagnosis since platelet counts remained high. The modified criteria facilitates the clinician to make an early diagnosis of ET in this subgroup of patients. Furthermore, a high proportion of these patients may be at risk of vascular complications, who may beneficiate from being correctly treated. TABLE 1 Total of patients Platelet count <600×10e9/L Number 92 30 Female (number, %) 59 (64%) 20 (70%) Age (median, range) 51 (19–84) 51 (19–83) Risk Low 26 (28%) 8 (26%) Intermediate 21(22%) 6 (19%) High 45 (48%) 16 (53%) Platelets ×10e9/L 693 (424–2,777) 527 (424–597) Hb g/dL 14.5 (11–18) 14.3 (11–16.8) Leucocytes ×10e9/L 8,5 (3,6–24,2) 8,5 (5,2–13,8) LDH UI/L 380 (39–1413) 337 (39–938) Splenomegaly 16 (17%) 5 (17%) JAK2 mutation 47 (51%) 15 (50%) Bone Marrow histology Celullarity >3.5 30/88 (34%) 8/28 (29%) Fibrosis grade I 2/90 (2%) 0 Compatible histology 79/89 (86%) 21/28 (75%) Abnormal Cytogenetics 2/26 (8%) 0 Symptoms 13 (14%) 4 (13%) Thrombotic event 16 (18%) 5 (17%) Haemorrhagic event 3 (4%) 0
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