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The prevalence of nevi was >=50% in all subgroups, regardless of age; 100% of patients carrying I BRAF i (17), I HRAS i (16), I MEK1/2 i (4) and I RIT1 i variants (1) showed nevi. Univariate analysis detected a significantly lower prevalence of nevi and atypical nevi in patients with NF1 ( I P i = 0.05 and I P i = 0.04, respectively). Our conclusion is that RASopathies are associated with increased risk of nevi regardless of the underlying genetic defect, with the highest number of both typical and atypical nevi in patients carrying I BRAF i and I HRAS i variants. [Extracted from the article]

Fifty-three patients with multiple myeloma (MM) underwent an allogeneic stem cell transplant (HSCT) from their HLA identical siblings using a reduced-intensity conditioning consisting of thioteopa 5 mg/kg, fludarabine 90 mg/m(2), and melphalan 80 mg/m(2). Their median age was 52 years (range 38 - 68) and the interval from diagnosis 12 months. Forty-three patients (82%) had advanced disease and 33 had previously been treated with high-dose therapy with one (N = 21), or more (N = 12) autologus transplants. Ten (18%) had their allograft programmed after induction chemotherapy. The majority (N = 44) received peripheral blood as stem cell source. Acute graft-versus-host disease (GVHD) grade II - IV developed in 45%, but grade III - IV in only 5%. Cumulative incidence of chronic GVHD was 64%. Sixty-two per cent were in complete remission (CR) following transplantation. Transplant-related mortality was 13%. Relapse incidence was 32%. With a median follow-up of 22 months, 3-year overall survival is 45% and progression free survival (PFS) 37%. The thiotepa, fludarabine, and melphalan conditioning regimen can produce remissions in the majority of MM patients with a limited transplant mortality rate. When used as first line treatment the results of transplantation appear even more encouraging.

Idiopathic hypereosinophilic syndrome (HES) is a rare, chronic hematological disease mainly characterized by unexplained prolonged eosinophilia, with frequent evidence of secondary organ damage. Treatment with steroids, chemotherapy, interferon-alpha (IFN-alpha), or imatinib-mesylate may improve the prognosis. Here we describe the case of a young male patient with a six-year history of HES and severe heart involvement who, after unsuccessful treatment attempts with steroids, hydroxyurea and IFN-alpha, had a prompt, clinical and hematological complete remission following administration of imatinib. As his cardiac function also markedly improved, he was considered for heart transplant. However, seven years after the onset of the disease and four months after the termination of imatinib treatment the patient died of a cerebral hemorrhage that occurred during an episode of acute respiratory sepsis. Imatinib has been previously reported to be effective in some hematological conditions with no evidence of the BCR/ABL transcript. The mechanisms that are probably involved in the response to imatinib in HES are also discussed.

Plasmacytomas of the testis are rare neoplasias; they may occur as isolated tumors or in concomitance with generalized multiple myeloma. We report the case of a 77-year-old man with previous clinical evidence of multiple myeloma involving skin, ribs, and lungs, and initially treated with surgery, radiotherapy, and chemotherapy attaining partial response. Fourteen months after the onset, the patient presented with left testicular enlargement due to plasmacytoma. Immunohistochemical stains showed monoclonal cytoplasmic IgA-lambda in tumour cells; serum M component showed the same immunoglobulin. Following radiotherapy the tumour mass disappeared. Nonetheless, 2 months later while on chemotherapy, disease recurred with progressive increase of skeletal lesions. The patient is currently alive with disease progression 22 months after onset. On the basis of a review of the literature, the clinical significance of testicular myeloma localization is discussed., (Copyright 2002 Wiley-Liss, Inc.)

Venous thromboembolism is common in subjects with chronic myeloproliferative disorders and is a recognized presenting feature of occult myeloproliferation. We report the case of a young woman who presented with acute thrombosis in the right jugular vein and pulmonary embolism. Splenomegaly and myeloid proliferation with bone marrow fibrosis, in the absence of the criteria for typical myeloproliferative disorders, allowed a diagnosis of an atypical form of chronic myeloproliferative disorder. This form carries a high risk of thrombosis and venous thromboembolism can be the presenting feature, though the course is often indolent. Acute thrombosis in the right jugular vein has not been so far described in these subjects. The outcome of young people with myelofibrosis is unpredictable, but a normal level of hemoglobin and the absence of blast cells and constitutional symptoms at presentation identifies subjects with a low probability of rapid disease progression.