Case report: Hematologic malignancies concomitant diagnosis of hairy cell leukemia and chronic lymphocytic leukemia: A rare association

A case of concomitant hairy cell leukemia (HCL) and chronic lymphocytic leukemia (CLL) in a 50- year-old man was reported. Flow cytometry and droplet digital PCR (ddPCR) were used to detect the B-Raf proto-oncogene (BRAF) V600E mutation. The HCL population was the predominant component. The patient was first treated with cladribine and then with rituximab and achieved HCL partial remission. Importantly, the high sensitivity of our flow cytometric approach allowed the detection of a small population “P3,” in addition to the typical HCL and CLL clones. The P3 clone changed over time, from an HCL-like to a CLL-like immunophenotype. This case is added to the few other cases of synchronous HCL and CLL already reported in the literature and underlines the importance of analyzing chronic lymphoproliferative disorders by highly sensitive diagnostic techniques, like the multicolor flow cytometry and ddPCR, to evaluate the possible association between HCL and CLL at diagnosis

EFFICACIA DELLA LENALIDOMIDE NEI PAZIENTI CON SINDROME MIELODISPLASTICA E PRESENZA CONCOMITANTE DI del(5q) E MUTAZIONE DEL GENE JAK2: CASO CLINICO E REVISIONE DELLA LETTERATURA

La presenza concomitante della delezione interstiziale del braccio lungo del cromosoma 5 del(5q) e la mutazione del gene JAK2 è un evento raro e può presentarsi nei pazienti con particolari caratteristiche cliniche, morfologiche, citogenetiche e molecolari comuni sia alle sindromi mielodisplastiche sia alle neoplasie mieloproliferative croniche. La lenalidomide induce una risposta profonda e duratura in questi pazienti benché il suo meccanismo d’azione in questi casi resta da chiarire. In questa tesi è stato riportato il caso clinico di un paziente con tali caratteristiche e una sintesi di tutti i casi pubblicati. Inoltre, viene discussa la possibilità di classificare da un punto di vista clinico, patologico e biologico tutti i pazienti con sindrome mielodisplastica e presenza concomitante di del(5q) e mutazione del gene JAK2 come una distinta entità a cui somministrare un trattamento mirato

Preliminary analysis of double‐negative T, double‐positive T, and natural killer T‐like cells in B‐cell chronic lymphocytic leukemia

Abstract Background B‐cell chronic lymphocytic leukemia (B‐CLL) is characterized by the expansion of CD5+ malignant B lymphocytes. Recent discoveries have shown that double‐negative T (DNT) cells, double‐positive T (DPT) cells, and natural killer T (NKT)‐cells may be involved in tumor surveillance. Methods A detailed immunophenotypic analysis of the peripheral blood T‐cell compartment of 50 patients with B‐CLL (classified in three prognostic groups) and 38 healthy donors (as controls) matched for age was performed. The samples were analyzed by flow cytometry using a stain‐lyse‐no wash technique and a comprehensive six‐color antibody panels. Results Our data confirmed a reduction in percentage values and an increase in absolute values of T lymphocytes in patients with B‐CLL, as already reported. In particular, DNT, DPT, and NKT‐like percentages were significantly lower than in the controls, except for NKT‐like in the low‐risk prognostic group. Moreover, a significant rise in the absolute counts of DNT cells in each prognostic group and in the low‐risk prognostic group of NKT‐like cells was found. A significant correlation of the absolute values of NKT‐like cells in the intermediate‐risk prognostic group versus B cells was observed. Furthermore, we analyzed whether the increase in T cells was related to the subpopulations of interest. Only DNT cells were positively correlated with the increase in CD3+ T lymphocytes, regardless of the stage of the disease, supporting the hypothesis that this T‐cell subset plays a key role in the immune T response in B‐CLL. Conclusion These early results supported that DNT, DPT, and NKT‐like subsets may be related to disease progression and should encourage further studies aimed at identifying the potential immune surveillance role of these minority T subpopulations