A novel fusion 5'AFF3/3'BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma.

Follicular lymphoma is the second most frequent type of non-Hodgkin's lymphoma in adults. The basic molecular defect consists of the t(14;18)(q32;q21) translocation, juxtaposing the B-cell lymphoma protein 2 gene BCL2 to the immunoglobulin heavy chain locus IGH@, and leading to the antiapoptotic BCL2 protein overproduction. Variations in the t(14;18) are rare and can be classified into two categories: (i) simple variants, involving chromosomes 18 and 2, or 22, in which the fusion partner of BCL2 is the light-chain IGK@ or IGL@; (ii) complex variant translocations occurring among chromosomes 14, 18 and other chromosomes. We report a follicular lymphoma case showing BCL2 overexpression, detected by immunohistochemistry and real-time quantitative PCR, consequently to the formation of a novel fusion gene between the 5' of the lymphoid nuclear transcriptional activator gene AFF3 at 2q11.2, and the 3' of BCL2. This case shows evidence, for the first time, of BCL2 overexpression consequently to the fusion of BCL2 to a non-IG partner locus.

Patterns of outcome and prognostic factors in primary large-cell lymphoma of the testis in a survey by the International Extranodal Lymphoma Study Group.

PURPOSE: To determine clinical features and patterns of outcome of primary testicular diffuse large B-cell lymphomas (DLCL). PATIENTS AND METHODS: A retrospective international survey of 373 patients with primary testicular DLCL. RESULTS: Most patients presented with localized disease (stage I to II), and the median age at diagnosis was 66 years (range, 19 to 91 years). Anthracycline-based chemotherapy was administered to 255 patients (68%), and prophylactic intrathecal chemotherapy was given to 68 patients (18%); 133 patients (36%) received prophylactic scrotal radiotherapy. Median overall survival was 4.8 years, and median progression-free survival was 4 years. The survival curves showed no clear evidence of a substantial proportion of cured patients. A favorable international prognostic index score (IPI), no B-symptoms, the use of anthracyclines, and prophylactic scrotal radiotherapy were significantly associated with longer survival at multivariate analysis. However, even for patients with stage I disease and good-risk IPI, the outcome seems worse than what was reported for DLCL at other sites. At a median follow-up of 7.6 years, 195 patients (52%) had relapsed. Extranodal recurrence was reported in 140 cases. Relapses in CNS were detected in 56 patients (15%) up to 10 years after presentation. A continuous risk of recurrence in the contralateral testis was seen in patients not receiving scrotal radiotherapy. CONCLUSION: Testicular DLCL is characterized by a particularly high risk of extranodal relapse even in cases with localized disease at diagnosis. Anthracycline-based chemotherapy, CNS prophylaxis, and contralateral testicular irradiation seem to improve the outcome. Their efficacy is under evaluation in a prospective clinical trial.

Current perspectives of therapeutic patient education in Italy.

Therapeutic patient education is a well-defined branch of health education aimed at patient empowerment. It consists of helping the patient to understand his own disease and its treatment, actively collaborating to its fulfillment and to take care of his own health status in order to maintain and improve his life quality. The correct implementation of both communication and therapeutic patient education involves the mastery of specific professional skills by healthcare personnel. In Italy, institutional therapeutic patient education is delivered mainly to diabetic patients. However, other activities and projects aimed at therapeutic education of chronic patients are gradually appearing. An overview of current situation and perspective of therapeutic patient education practice in Italy are presented.

Effective immunosuppressive therapy in a patient with primary pulmonary hypertension.

The case history is described of a young woman who presented with primary pulmonary hypertension and non-specific inflammatory signs. The patient received prolonged immunosuppressive treatment with low dose methotrexate and prednisone without any vasodilator agent. After one year the pulmonary artery pressure fell from a mean value of 47 mm Hg to 30 mm Hg and there was a corresponding clinical response. This case suggests that, in patients with pulmonary hypertension of unknown origin, immunopathogenetic factors should be sought in order to consider the utility of immunosuppressive therapy.

[Raynaud's phenomenon. Practical considerations on the forms secondary to immunomediated systemic diseases]. / Fenomeno di Raynaud. Considerazioni pratiche sulle forme secondarie a malattie sistemiche immunomediate.

Raynaud's phenomenon is a frequent asphyxial vascular syndrome interesting the 4% of general population. In most of cases it is a functional problem (Raynaud's disease). Less frequently it has an organic cause (Raynaud's syndrome). The pathogenesis of primitive Raynaud's phenomenon remains an enigma. In secondary Raynaud phenomenon the attacks of vasospasm can be explained by the physiopathologic events characterizing the underlying disease. For example, multiple cytokines, transforming grow factor beta, serum immunocomplexes are of great importance in the contest of connective diseases. Clinical examination, some usual laboratory and roentgenographic investigations and nailfold capillary microscopy are of particular importance in orientating the diagnosis.

Uncontrolled triggering of programmed cell death (apoptosis) in haematopoietic stem cells: a new hypothesis for the pathogenesis of aplastic anaemia.

The cause of bone marrow failure in aplastic anaemia (AA) is still unknown; however, it is clear that acquired AA is a heterogeneous disease including basically different pathophysiological conditions. Causative agents, clinically associated with AA, possibly exert their action through restricted pathways. Some theoretical and experimental data show that programmed cell death (PCD) or apoptosis is physiologically important in normal haematopoiesis and could be involved in the pathophysiological events responsible for the development of AA. Therefore, it is intriguing to hypothesize that the pathogenetic mechanism underlying most cases of acquired AA could be represented by an excessive and/or uncontrolled triggering of PCD in haematopoietic stem cells. Investigations to test this hypothesis are proposed.

[Quality control in radiotherapy. Computerized management of the "total" oncologic follow-up]. / Il controllo di qualità nella radioterapia. La gestione informatizzata del follow-up oncologico "totale".

Since 1992, in the Rovigo Radiotherapy Department, we have computerized the management of oncologic follow-up to minimize all "non-medical" times during the different phases. System efficiency was analyzed and the results follow: 1) the absolute number of follow-up visits, compared with the standard reference year (1991), shows that we were able to double our "performance" within the time unit, with the same "resources"; 2) the average number of follow-up visits per malignancy within 6 months of the diagnosis and then every seventh month, approximated to the number of scheduled visits; 3) the number of cancer relapses in the patients who could not be submitted to a specific antiblastic treatment (a reversed efficacy indicators) progressively reduced from 13.7% to 12.6% and 10.4% respectively, in 1992, 1993 and 1994; 4) secondary lesion diagnosis, an indirect efficacy parameter, was found to be accurate; 5) the cost of follow-up per malignancy reduced, in 6 months' periods, especially in the cancers with easier clinical diagnosis (-32% for breast cancer, -50% for head and neck cancer), by as much as 43,639,000 Italian liras in 1994 (relative to 1993); 6) the scheduled visits began only 12 minutes late, as studied on 2,346 visits. To conclude, the computed management of medical records improves our Department's efficiency, with no additional cost for the patients.

Immunosuppressive therapy prevents recurrent pericarditis.

OBJECTIVES: This study reviews the clinical outcome of a series of patients with recurrent pericarditis before and after immunosuppressive therapy. BACKGROUND: Despite anti-inflammatory treatment, some patients with acute pericarditis experience repeated relapses of the disease. The use of steroids for the treatment of recurrent pericarditis remains controversial. METHODS: Twelve patients (4 women, 8 men; mean [+/- SD] age 35.9 +/- 17.2 years, range 15 to 65) with recurrent pericarditis unrelated to any systemic disease were selected. All 12 patients previously received ineffective short-term courses of low dose steroids and had a total of 39 relapses during a mean follow-up period of 14.2 months (range 4 to 50). A 3-month course of treatment with prednisone, at an immunosuppressive dosage, was started (1 to 1.5 mg/kg body weight per day for 4 weeks, then gradually withdrawn). When prednisone reduction was undertaken, all patients started a 5-month course of treatment with aspirin (1.6 g/day until steroid suspension, then reduced to 0.8 g/day). RESULTS: During a mean follow-up period of 41.6 months (range 7 to 104), immunosuppressive treatment with high dose prednisone resulted in stable remission in all except one patient, who experienced one relapse. In this patient, the addition of azathioprine to prednisone induced a persistent remission, which remained after 1-year follow-up. During treatment, three patients had severe steroid-related adverse effects that in two patients required replacement of prednisone with azathioprine and cyclophosphamide, respectively. This variation in the immunosuppressive regimen did not modify the favorable clinical outcome. CONCLUSIONS: The dose and duration of steroid treatment are critical factors in preventing recurrent pericarditis. High dose prednisone with aspirin should be considered in the treatment of recurrent pericarditis resistant to anti-inflammatory therapy. Cyclophosphamide or azathioprine should be reserved for patients who do not respond to high dose prednisone or who experience severe complications related to steroid therapy.