The primary plasma cell leukemia (PCL) is a rare aggressive plasma cell dyscrasia. We investigated its clinical and laboratory aspects in a large series of patients. Among 934 consecutive patients with multiple myeloma (MM), registered between 1978 and 2004 in a single institution, 30 patients [M/F: 22/8; median age (yr): 60, range: 36-79] with PCL (3.1%) were diagnosed. Retrospective analysis of the clinical, immunophenotypic, and cytogenetic aspects was performed. All patients had anemia, thrombocytopenia, circulating plasma cells (median count 4 x 10(9)/l), and in 18/30 patients hypercalcemia was found. Extramedullar involvement was present in 18/30 (60%) patients. The plasma cells were CD138+ and CD38+ (9/9), CD20+ (1/9), and CD10+ (1/9) with cytoplasmic positivity for light chains (9/9). The cytogenetic studies, evaluable in 21/30 patients, showed normal karyotype (6/21), complex hypodiploidy (6/15), pseudodiploidy (5/15), and hyperdiploidy (4/15). Treatment modalities had no impact on survival (median 4.5 months). Seven patients achieved remission. The performance status (ECOG >or= 2), platelet count or= 460 U/l were independent prognostic parameters of survival. The immunologic and cytogenetic presentation of patients with PCL bears little significance on prognosis, which is heavily compromised by advanced age at diagnosis and the poor performance status.

No abstract

A patient with t(9;22)-positive chronic myelogenous leukemia (CML) developed a resistance to therapy with imatinib mesylate (Glivec) which coincided with the appearance of t(5;6;12) in the same cells with t(9;22) [46,XX,t(5;6;12)(q14?;q21?;q23?),t(9;22)(q34;q11)]. She remains in a continuous chronic phase of CML. This is the first reported instance of karyotype evolution temporally associated, and possibly involved, with the induction of resistance to imatinib mesylate but without any signs of evolution of leukemia toward a more anaplastic and aggressive form.

Primary Myelofibrosis (PMF) is a chronic, malignant hematological disease, characterized by leukoerythroblastic blood picture, anisopoikilocytosis teardrop-shaped erythrocyte, different degree of bone marrow fibrosis and hepatosplenomegaly due to extramedullary hematopoiesis. Among genetic specificities of the disease, those that stand out are chromosomal aberrations in pathological, myeloid blood cells and point mutation V617F in the JAK2 gene. The main goal of study was to examine karyotype and cytogenetic parameters and presence of JAK2V617F mutation in the genome of patients with de novo PMF. Additionally, other diagnostic parameters, their mutual correlations and their effect on cumulative survival rate of patients were examined. Karyotype analysis was performed by conventional cytogenetic method. Allelespecific PCR was used to detect the JAK2V617F mutation. The study used descriptive and analytical statistical methods. By retrospective analysis of cytogenetic results that included 61 patients, abnormal karyotype was registered in 41% of them. Specific PMF aberrations that were found are : 13q-, 20q-, +8, but also aberrations that are rarely present in this disease. Prospective study included 144 patients. The frequency of chromosomal aberrations was tested, so as the frequency of JAK2V617F mutation, their mutual correlation and correlation with clinical and hemato-laboratory parameters. Chromosomal aberrations were present in 29% of patients. Of specific aberrations for PMF, the most common was trisomy of chromosome 9, then 13q-and 20q-. JAK2V617F mutation was registered in 55% of patients. Examining the correlation between mutation and type of karyotype and mutation and chromosomal aberrations with various risk level, statistically significant difference was not registered (p=0.153). Examining the importance of clinical and hematological parameters, difference was registered in survival of patients with different prognostic groups applying Lille, Cervantes, IPSS, DIPSS prognostic systems (PSs) (for all p<0.001), Mayo PS for all patients (p=0.001) and Mayo PS for younger patients (p=0.013). Testing the influence of the JAK2V617F mutation, it was noticed that there is no statistically significant difference (p=0.807) in the survival of patients with and without mutations. Examining the importance of pathological karyotype and some chromosomal aberrations upon survival of patients, statistic significance (p=0.004) was registered using DIPSS cytogenetic prognostic system (CPS). Applying Lille, Mayo and IPSS CPSs, statistic significance was not registered (p=0.155 and p=0.214, p=0.152). Our results indicate that the overall frequency of chromosomal abnormalities in patients with PMF is 32%. The most common chromosomal aberrations are: +8, +9, 13q-and 20q-. The incidence of JAK2V617F somatic mutation is 55% in our PMF patients cohort. Correlation between chromosomal aberrations and JAK2V617F mutation was not found. It was also concluded that prognostically favorable chromosomal aberrations for patients with PMF ...

Isochromosome der(17)(q10)t(15;17) in acute promyelocytic leukemia resulting in an additional copy of the RARA-PML and loss of one p53 gene: report of two cases and literature review Izohromozom der(17)(q10)t(15;17) u akutnoj promijelocitnoj leukemiji rezultira dodatnom kopijom RARA-PML i gubitkom p53 gena: prikaz dva slučaja i pregled literature