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1.  Choroidal and adnexal extranodal marginal zone B-cell lymphoma: presentation, imaging findings, and therapeutic management in a series of nine cases 
Eye  2013;27(7):828-835.
To describe the clinical and imaging presentation, pitfalls in the diagnosis of choroidal extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT), as well as the therapeutic management and prognosis.
A retrospective case review of nine choroidal MALT lymphomas was performed. Initial clinical presentation and imaging findings of these histologically confirmed cases of lymphoma were analyzed. Treatment methods, time to diagnosis, systemic work-up, and treatment prognosis were assessed.
Initial presentation was essentially blurred vision. The features described on examination were: anterior and posterior scleritis, iridocyclitis, choroidal infiltration, and exudative retinal detachment. Fluorescein and indocyanine green angiography as well as ultrasonography and optic coherence tomography provided arguments in favor of the diagnosis. Biopsy sites included conjunctiva, Tenon's capsule, deep scleral tissue, episclera, lacrimal gland, and choroid. Treatment mostly consisted of a combination of chemotherapy and radiotherapy. The mean time to diagnosis was 12 months.
Owing to the insidious onset of these tumors and their ability to simulate other conditions, the diagnosis is commonly delayed. The prognosis is generally good and treatment is effective in the case of localized lymphoma.
PMCID: PMC3709394  PMID: 23598677
choroid; extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue; MALT
2.  Rapid Emergence of Echinocandin Resistance during Candida kefyr Fungemia Treatment with Caspofungin 
Echinocandin drugs are widely used for the treatment of candidemia. Resistance is considered rare, and only a few cases of breakthrough candidiasis in patients receiving echinocandin have been reported worldwide. We report here for the first time a Candida kefyr isolate that acquired echinocandin resistance very rapidly after the initiation of caspofungin treatment for candidemia. We characterized the FKS gene mutation responsible for the resistance via the comparison of isolates sampled before and during treatment.
PMCID: PMC3632960  PMID: 23439642
3.  Waldenström's macroglobulinemia harbors a unique proteome where Ku70 is severely underexpressed as compared with other B-lymphoproliferative disorders 
Blood Cancer Journal  2012;2(9):e88-.
Waldenström's macroglobulinemia (WM) is a clonal B-cell lymphoproliferative disorder (LPD) of post-germinal center nature. Despite the fact that the precise molecular pathway(s) leading to WM remain(s) to be elucidated, a hallmark of the disease is the absence of the immunoglobulin heavy chain class switch recombination. Using two-dimensional gel electrophoresis, we compared proteomic profiles of WM cells with that of other LPDs. We were able to demonstrate that WM constitutes a unique proteomic entity as compared with chronic lymphocytic leukemia and marginal zone lymphoma. Statistical comparisons of protein expression levels revealed that a few proteins are distinctly expressed in WM in comparison with other LPDs. In particular we observed a major downregulation of the double strand repair protein Ku70 (XRCC6); confirmed at both the protein and RNA levels in an independent cohort of patients. Hence, we define a distinctive proteomic profile for WM where the downregulation of Ku70—a component of the non homologous end-joining pathway—might be relevant in disease pathophysiology.
PMCID: PMC3461705  PMID: 22961060
Waldenström macroglobulinemia; proteomics; 2D-electrophoresis; XRCC6
4.  Systemic vasculitis with bilateral perirenal haemorrhage in chronic myelomonocytic leukaemia 
Annals of the Rheumatic Diseases  2000;59(5):390-393.
The cases of two patients with chronic myelomonocytic leukaemia associated with periarteritis nodosa-like, antineutrophil cytoplasmic antibody negative, systemic vasculitis, are reported.
  A 61 year old man was admitted with fever, diffuse myalgia, and abdominal pain. Blood and bone marrow examination showed chronic myelomonocytic leukaemia. Vasculitis of the gall bladder was responsible for acalculous cholecystitis. A massive spontaneous bilateral perirenal haemorrhage occurred. A 73 year old woman with chronic myelomonocytic leukaemia had been followed up for one year when unexplained fever occurred. Two months after the onset of fever, sudden abdominal pain was ascribed to spontaneous bilateral renal haematoma related to bilateral renal arterial aneurysms. Neuromuscular biopsy showed non-necrotising periarteriolar inflammation.
  To our knowledge, systemic vasculitis has never been reported in chronic myelomonocytic leukaemia. In our two cases a non-random association is suggested because (a) chronic myelomonocytic leukaemia is a rare myelodysplastic syndrome, (b) spontaneous bilateral perirenal haematoma is not a usual feature of periarteritis nodosa.

PMCID: PMC1753140  PMID: 10784523
5.  Cytotoxic T cell response against the chimeric p210 BCR-ABL protein in patients with chronic myelogenous leukemia. 
Journal of Clinical Investigation  1998;101(10):2290-2296.
Human chronic myelogenous leukemia (CML) is characterized by a translocation between chromosomes 9 and 22 that results in a BCR-ABL fusion gene coding for chimeric proteins. The junctional region of the BCR-ABLb3a2 molecule represents a potential leukemia-specific antigen which could be recognized by cytotoxic T lymphocytes (CTL). In fact, we identified a junctional nonapeptide (SSKALQRPV) which binds to HLA-A2.1 molecules. This peptide, as well as those binding to HLA-A3, -A11, and -B8 molecules (previously identified by others), elicits primary CTL responses in vitro from PBLs of both healthy donors and CML patients. Such CTL recognize HLA-matched, BCR-ABL-positive leukemic cells, implying efficient natural processing and presentation of these junctional peptides. Specific CTL were found at high frequency in 5 of 21 CML patients, suggesting that these epitopes are, to some extent, immunogenic in vivo during the course of the disease. These peptides could be useful for the development of specific immunotherapy in CML patients.
PMCID: PMC508817  PMID: 9593785
6.  How to manage Waldenstrom's macroglobulinemia 
Leukemia  2013;27(4):762-772.
Waldenstrom's macroglobulinemia (WM) is very distinct from other indolent lymphoma subtypes: by definition it is accompanied by a monoclonal IgM gammopathy; it presents always with bone marrow infiltration and often with clinical symptoms such as neuropathy or hyperviscosity. These disease characteristics and the frequently advanced age of the WM patient pose a major challenge to the treating clinician even today. Recently, there has been not only substantial progress in our understanding of the biology of WM, but we have also significantly improved our tools to prognostify and to treat patients with this disease. This review summarizes our current knowledge about WM and aims at offering a guideline for the clinical management of patients with this lymphoma subtype, covering questions on how to manage diagnosis, prognostification and treatment based on the most recent data.
PMCID: PMC3626020  PMID: 23385376
Waldenstrom's macroglobulinemia; diagnosis; prognostification; treatment

Results 1-6 (6)