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Jordi Sans-Sabrafen

Publications and source records attributed to Jordi Sans-Sabrafen.

4 recordsLinked to original sources

Acute pseudobulbar palsy as the initial presentation of intravascular lymphomatosis.

We describe the case of a 76-year-old male patient who developed acute manifestations of pseudobulbar palsy without a history of stroke or vascular risk factors as the first manifestation of intravascular lymphomatosis. Neurological symptoms of acute pseudobulbar palsy appeared on the second postoperative day after transurethral prostatectomy for the treatment of prostatic hypertrophy. Intravascular lymphomatosis was diagnosed from microscopic findings and immunohistochemical staining of the surgical specimen. Chemotherapy was started, but the patient died due to sepsis secondary to bone marrow aplasia. Intravascular lymphomatosis should be considered a rare potential cause of acute pseudobulbar palsy.

Journal Article↗

Contribution of cytogenetics and in situ hybridization to the study of monoclonal gammopathies of undetermined significance.

Monoclonal gammopathies of undetermined significance (MGUS) are characterized by the presence of a monoclonal protein in serum in quite asymptomatic patients. Ten to 33% of MGUS patients eventually will develop overt multiple myeloma, but no single laboratory test exists that can predict changes toward a malignant evolution. The aim of the present study was to apply conventional cytogenetics, the MAC (morphology, antibody, chromosome) method and fluorescence in situ hybridization (FISH) techniques in a series of 50 MGUS patients and 4 "smoldering" multiple myeloma patients to test the usefulness of their approaches as predictive methodologies. All patients studied by conventional cytogenetics presented a normal karyotype independent of the culture conditions used. The MAC method revealed that all mitotic cells showing a normal karyotype were positive for anti-MOP7 or anti-CD3 in 12 patients studied. In addition, two of them presented a numerical abnormality detected by FISH. Using a FISH technique with direct labeled centromeric probes for chromosomes 3, 7, 11, and 18 we showed a numerical abnormality in eight of 35 patients (23%) with a normal karyotype. The common occurrence of MGUS and the fact that they may evolve toward lymphoproliferative disorders displays the importance of being able to identify laboratory results that are capable of predicting the evolution of these patients. In the literature, patients who presented an IgA peak of immunoglobulin type have been associated with a higher risk of evolving to a malignant condition. Our study shows the correlation of MGUS patients who presented monosomy 18 with the presence of an immunoglobulin peak of the IgA type. Prospective follow-up is needed to evaluate the clinical value of monosomy 18 as a predictive factor for defining a high risk of malignant transformation in MGUS patients.

Adult↗

Genetic characterization of the paraimmunoblastic variant of small lymphocytic lymphoma/chronic lymphocytic leukemia: A case report and review of the literature.

Paraimmunoblastic variant of small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL) is characterized by a diffuse proliferation of cells, called paraimmunoblasts, normally located on the pseudoproliferation centers. Patients usually present with multiple lymphadenopathies and a rapid and aggressive progression of the disease. We report a case with paraimmunoblastic variant of SLL/CLL genetically well-characterized by conventional cytogenetics, comparative genomic hybridization (CGH), IgH/BCL-1, IgH/BCL-2, and p53 fluorescent in situ hybridization (FISH) probes and polymerase chain reaction (PCR) for detection of IgH/BCL-2 translocation. A complex karyotype was found, with p53 deletion confirmed by CGH and FISH; however, no translocations involving either BCL-2 or BCL-1 and the immunoglobulin heavy chain gene were identified. A literature review shows only 20 previously reported cases, 6 of which involve genetic studies.

Aged↗