Genetics of lymphocytes influences the emergence of second cancer in chronic lymphocytic leukemia.

Background: Patients affected by chronic lymphocytic leukemia (CLL) have an increased risk of developing a second cancer. There is not a definitive explanation for this phenomenon, although some hypotheses have been postulated. The aim of the present work was to assess the presence of second cancer in untreated patients with CLL who were cytogenetically characterized, and secondly to investigate if there is a correlation between the genetics of CLL and the emergence of second cancer.

Structural rearrangements of trisomies are a risk marker of clinical progression in hyperdiploid multiple myeloma.

Background: Hyperdiploid multiple myeloma (HMM) is being characterized by the presence of several trisomies and a low incidence of immunoglobulin heavy chain rearrangements. It has not well defined what specific steps are associated with disease progression. We present two patients that showed some primary trisomies rearranged as a step of cytogenetic and clinical progression.

[Evaluation of V617F mutation of JAK2 in negative chromosome Philadelphia chronic myeloproliferative disorders].

Background And Objective: Polycythemia vera (PV) and essential thrombocytemia (ET) are chronic myeloproliferative diseases (MPD) characterized by overactive hemopoiesis. A single point mutation of JAK2 (Val617Phe) has been detected in PV, ET and myelofibrosis (MF). The aim of this work was to investigate the JAK2 mutation in patients with MPD and to compare the results to those of the endogenous formation of BFU-E erythroid colonies (EEC).

Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

The JAK2/V617F mutation has been noted in essential thrombocytemia. We investigated 19 cases with refractory anemia with ringed sideroblasts (RARS), including three RARS with thrombocytosis (RARS-T). Only the RARS-T patients showed this mutation.