PubMed Health⌕ Search

Biomedical subjects

J Sans-Sabrafen

Publications and source records attributed to J Sans-Sabrafen.

At least 19 recordsLinked to original sources
PubMed1999

Translocation (11;14)(q13;q32) and preferential involvement of chromosomes 1, 2, 9, 13, and 17 in mantle cell lymphoma.

We have studied 13 cases of histologically confirmed mantle cell lymphomas (MCL) combining cytological-immunological features with conventional cytogenetics and in situ hybridization (ISH) techniques. Peripheral blood smears and lymph node biopsies expressed the typical mantle zone pattern with alpha B-cell phenotype. Most of the cases (11 of 13) had lymphomatous cells in the peripheral blood. Chromosome analysis was carried out on lymphoid cells from peripheral blood and/or lymph node biopsies. Phytohemagglutinin (PHA) and phorbol 12-myristate 13 acetate (TPA) were used as mitogens. Biotin-labeled libraries of whole chromosomes implicated in complex karyotypes were used to improve their interpretation. Clonal chromosome abnormalities were found in 10 of 13 patients (77%); 7 of these had a complex abnormality. The most frequent recurrent structural abnormalities were: t(11;14)(q13;q32), involvement of chromosome 1 (der[1], del[1], dup[1]), chromosome 2 (del[2], der[2]), chromosome 9 (der[9], -9), chromosome 13 (add[13], t[13q]), and chromosome 17 (add[17], der[17], t[17q]). The most frequent numerical abnormalities were monosomy 21 and loss of the Y chromosome.

Adult↗
PubMed1999

Major vascular complications in essential thrombocythemia: a study of the predictive factors in a series of 148 patients.

To determine the clinicohematological factors predictive for the appearance of major vascular complications (MVC) in patients with essential thrombocythemia (ET), 148 consecutive such patients were retrospectively assessed for the development of MVC during a median follow-up of 58.5 months. Seventy-seven patients had vascular risk factors, and 37 a history of MVC at ET diagnosis. Forty-nine MVC were registered in 33 patients during the follow-up period. The actuarial probability of MVC was 27% at 6 years in the whole series, 35.6% for patients above 60 years, and 21.4% for patients younger than 60 years, whereas only one of the 36 patients younger than 45 years had MVC. At multivariate analysis, age >60 years, history of major ischemia and hypercholesterolemia were the variables associated with an increased MVC risk. These results suggest that all ET patients above 60 years should be treated, whereas in younger patients treatment decisions should be primarily based on the existence of risk factors for MVC.

Adolescent↗
PubMed1998

Two new cases of near-tetraploidy in adult acute myeloid leukemia.

Tetraploid or near-tetraploid karyotype has been described rarely in hematologic neoplasms. Herein we report two new cases of adult acute myeloblastic leukemia, M0 and M1 FAB subtypes that showed near-tetraploid clones that were studied with conventional cytogenetics and in situ hybridization (ISH). We compare our new cases with those previously reported.

Aged↗
PubMed1998

[Cytogenetic study of 93 myelodysplastic syndromes].

BACKGROUND: We describe the cytogenetic results of 93 patients with myelodysplastic syndromes (MDS). The main object of this report is to analyze the prognostic value of the karyotype in patients with MDS, in relation to the evolution to acute leukemia and the survival time. PATIENTS AND METHODS: Cytogenetic studies were performed in 93 untreated cases of MDS between 1985 and 1994. Overall survival and the evolution to acute leukemia were analyzed. RESULTS: Among 93 patients who were examined at the time of diagnosis, 40 had an abnormal karyotype (43%). The highest frequency of chromosome abnormalities was observed in refractory anaemia with excess of blasts (RAEB) (65.7%) and RAEB in transformation (RAEB-t) (40%) and the lowest in refractory anaemia with ringed sideroblasts (RARS) (10%). The chromosomes most frequently involved were: 5, 7, 8, 11, 12 and 17. No relationship was found between FAB subtypes and the type of chromosomal abnormalities. In respect to the prognosis, an abnormal karyotype, and a complex karyotype were related with a higher frequency of evolution to acute leukemia. A model based on karyotype could divide patients in two groups: poor prognosis (patients with an abnormal karyotype, with involvement of chromosome 7, trisomy 8 or with a complex karyotype), and a good prognosis (patients with normal karyotype). CONCLUSIONS: The cytogenetic studies are very useful in the study of MDS for their clinical implications.

Adolescent↗
PubMed1998

Cytogenetic abnormalities in three patients with B-cell prolymphocytic leukemia.

We present the cytological features, conventional cytogenetics, and in situ hybridization (ISH) findings of three cases of B-cell prolymphocytic leukemia (B-PLL). The diagnosis was made according to the French-American-British (FAB) criteria. We considered a diagnosis of B-PLL when a predominance (> 50%) of lymphoid cells with coarse chromatin but prominent central nucleoli and more abundant cytoplasm than typical chronic lymphocytic leukemia (CLL) cells were present. B-PLL express strong SIg, B-cell antigens, and reactivity with the monoclonal antibody FMC7. Chromosome analysis was carried out on lymphoid cells from peripheral blood and, in one patient, from lymph node. The phytohemagglutinin (PHA) mitogen was used. ISH was performed with two types of probes: the biotin-labeled chromosome 12-specific alpha satellite DNA probe to detect trisomy 12, and biotin-labeled libraries of whole chromosomes 1, 7, and 14. Clonal chromosome abnormalities were found in all three patients; in one, a complex karyotype was observed. The most frequent recurrent abnormality was trisomy 12. Our results suggest that PLL usually presents with cytogenetic abnormalities. The finding of translocation (11;14) is noteworthy; chromosomes 1 and 3 are also involved.

Adult↗
PubMed1997

Cytogenetic studies in seventy-six cases of B-chronic lymphoproliferative disorders.

The results of cytogenetic studies are reported in 76 patients with B-chronic lymphoproliferative disorders (B-CLPD): 60 patients with chronic lymphocytic leukemia (CLL), six with follicular lymphoma in leukemic phase (FLLP), five with splenic B-cell lymphoma with villous lymphocytes (SLVL), two with chronic prolymphocytic leukemia (CPL), two with hairy cell leukemia (HCL), and one with plasma cell leukemia (PCL). PHA (phytohemagglutinin), PWM (pokeweed mitogen), LPS (lipopolysaccharide from Escherichia Coli), TPA (phorbol 12-myristate acetate), IL6 (interleukin 6), and DxS (dextran sulfate) were used as mitogens. Mitoses were obtained in 75 cases. Clonal aberrations could be demonstrated in 34 cases (44%). In CLL, classical type, chromosomes 6, 11, and 13 were more frequently involved, whereas trisomy 12 was frequently found in CLL mixed-cell type, in FLLP, and CPL. In SLVL the deletion del(7)(q32) is noteworthy and miscellaneous chromosome abnormalities in the remaining patients were observed. Regarding the efficiency of mitogens, PHA turned to be the most effective in obtaining metaphases and in detecting clonal chromosomal aberrations.

Adult↗
PubMed1996

Cytogenetic abnormalities in 13 patients with multiple myeloma.

Cytogenetic analysis was successfully performed in 45 consecutive multiple myeloma (MM) patients. Cytogenetic abnormalities were observed in 13 of 45 patients (29%). Eleven patients showed numerical changes and 9 showed structural abnormalities in chromosomes 5, 9, 11, 14, 15, and 19 were most frequently gained. Structural abnormalities preferentially involved chromosomes 6, 13, and 14.

Aged↗
PubMed1995

Ischemic stroke as first manifestation of essential thrombocythemia. Report of six cases.

BACKGROUND: Ischemic stroke as a presenting sign of essential thrombocythemia has been infrequently reported. We describe six patients in whom cerebrovascular disease was the first manifestation of this myeloproliferative disease. A positive endogenous megakaryocyte and/or erythroid colony growth from blood was a diagnostic criterion of essential thrombocythemia in patients with platelets counts lower than 600 x 10(9)/L. CASE DESCRIPTIONS: These six patients represented 0.54% of all patients with first stroke, 42.8% of all hematologic disorders associated with stroke, and 12.5% of all patients with essential thrombocythemia diagnosed from 1986 to 1992 at our institution. Eleven acute cerebrovascular accidents (6 transient ischemic attacks, 5 definitive cerebral infarcts) were registered. Mean time from ischemic stroke to diagnosis of essential thrombocythemia was 4.5 months (range, 1 to 12 months). The mean platelet count was 597 x 10(9)/L (range, 414 to 760 x 10(9)/L). Four patients had platelets counts lower than 600 x 10(9)/L. All patients had circulating erythroid progenitors, megakaryocytic progenitors, or both. CONCLUSIONS: Ischemic stroke as a presenting manifestation of essential thrombocythemia is probably underrecognized. The diagnosis of thrombocythemia should not be excluded on the basis of platelet counts lower than 600 x 10(9)/L. The availability of in vitro culture of hematopoietic progenitors from peripheral blood makes it possible to diagnose early and atypical cases.

Adult↗
PubMed1995

Endogenous megakaryocyte and erythroid colony formation from blood in essential thrombocythaemia.

The in vitro cultures of haematopoietic progenitors have been reported to be useful in the diagnosis of myeloproliferative disorders since the so-called endogenous erythroid and megakaryocyte colony formation has, in most studies, been found in these diseases. In order to know their value as diagnostic criteria in essential thrombocythaemia (ET) we have studied megakaryocyte (with and without phytohaemagglutinin-stimulated leucocyte conditioned medium) and erythroid (with and without erythropoietin) colony formation in vitro by progenitors from blood in 60 patients with ET and in ten with reactive thrombocytosis (RT) using the methyl-cellulose assay. Out of 60 ET patients endogenous megakaryocyte colony growth was observed in 38 (63%) and endogenous erythroid growth in 42 (70%). None of the patients with RT or any of the controls showed either type of endogenous growth. Fifty-five (91%) of the patients with ET showed megakaryocyte and/or erythroid endogenous colony formation whereas five (9%) did not have any kind of endogenous colonies, although cultures were performed sequentially. In conclusion, a positive endogenous megakaryocyte and/or erythroid colony growth from blood is a frequent and characteristic finding in ET patients and should be used as a useful marker in this disease.

Adolescent↗
PubMed1994

[Primary testicular lymphoma. A report of 3 cases].

The cases of three patients with primary testicular lymphoma, Ann Arbor IAE stage with the ages of 74, 72 and 60 years are presented. Histologic results demonstrated 2 cases of intermediate grade of malignancy and 1 of low grade. Immunohistochemical analysis for epithelial antigens was negative and the measurement of the serum levels of alpha-fetoprotein and beta-HCG was normal. LDH and beta-2-microglobulin were also normal. Chemotherapy was performed and the three patients remain alive and free of disease at 65, 32 and 19 months following diagnosis. The therapeutic results of the most important series were reviewed with the conclusion that treatment should be intensive, including orchiectomy plus chemotherapy even in apparently localized cases. The complementary role of radiotherapy is also discussed.

Aged↗
PubMed1994

Cytogenetic studies in five patients with Sézary syndrome.

A cytogenetic study was performed in five patients with Sézary syndrome. Metaphases were obtained from a phytohemagglutinin-stimulated lymphocyte culture. The five patients showed abnormal karyotypes. The chromosomes preferentially involved in numerical aberrations were chromosomes 10 (monosomy) and 13 (monosomy); involved in structural changes were chromosomes 1, 2, 4, 6, and 14. In our series, all patients showed progression of the disease.

Aged↗
PubMed1994

Congenital dyserythropoietic anemia type II: morphological characterization of the erythroid colonies (BFU-E) from the bone marrow and peripheral blood of two patients.

The numerical and morphological findings of erythroid burst colonies from the peripheral blood and bone marrow of two patients with congenital dyserythropoietic anemia type II (CDA-II) are described. In both patients there was an increase of medullary and peripheral BFU-E that was explained by a compensating mechanism against the destruction of erythrocytes. In most of the colonies normal and abnormal erythroblasts co-existed. The ultrastructural analysis of erythroblasts showed, as in vivo, bi- and multinuclearity, autophagic vacuoles, and aberrant membranes that sometimes gave rise to the double-membrane appearance. These abnormalities were found in both patients simultaneously in the blood and bone marrow. These findings point to defective erythroid stem cells. The clinical expression of the disease may depend partly on the ratio of normal to abnormal erythroid colonies.

Adult↗
PubMed1994

Burkitt's type translocation in multiple myeloma.

We report a case of multiple myeloma with a t(8;22)(q24;q11) found during the progression of the disease. The relation between the association of a Burkitt's type translocation with cytological characteristic features is presented. To our knowledge, there is no report of a multiple myeloma with t(8;22)(q24;11).

Aged↗