RESUMEN
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.
Asunto(s)
Cromosomas , Linfoma/genética , Translocación Genética , Adulto , Anciano , Anciano de 80 o más Años , Aberraciones Cromosómicas , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 13 , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 17 , Cromosomas Humanos Par 2 , Cromosomas Humanos Par 21 , Cromosomas Humanos Par 9 , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mitosis/genética , Cromosoma YRESUMEN
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.
Asunto(s)
Trombocitemia Esencial/complicaciones , Enfermedades Vasculares/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Humanos , Masculino , Análisis Multivariante , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Enfermedades Vasculares/etiologíaRESUMEN
Two cases of acute non-lymphoblastic leukaemia (ANLL), subtypes M1 and M5b, are presented. Both of them showed the 9q-interstitial deletion as the only abnormality. From our observations and others found in the literature it can be inferred that such abnormality might be a primary finding in ANLL, related to an unfavourable prognosis, regardless the morphological subtype.
Asunto(s)
Cromosomas Humanos Par 9 , Leucemia Mieloide Aguda/genética , Eliminación de Secuencia , Anciano , Femenino , Humanos , MasculinoRESUMEN
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.
Asunto(s)
Aberraciones Cromosómicas/genética , Leucemia Linfocítica Crónica de Células B/genética , Leucemia Prolinfocítica/genética , Adulto , Trastornos de los Cromosomas , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 7 , Femenino , Humanos , Hibridación in Situ , Cariotipificación , Masculino , Persona de Mediana Edad , Translocación GenéticaRESUMEN
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.
Asunto(s)
Aneuploidia , Leucemia Mieloide Aguda/genética , Anciano , Anciano de 80 o más Años , Humanos , Inmunofenotipificación , Hibridación in Situ , Cariotipificación , Masculino , Persona de Mediana EdadRESUMEN
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.
Asunto(s)
Aberraciones Cromosómicas , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/mortalidad , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Humanos , Lactante , Cariotipificación , Masculino , Persona de Mediana Edad , PronósticoAsunto(s)
Síndrome de Down , Leucemia Monocítica Aguda/genética , Anciano , Anciano de 80 o más Años , Humanos , MasculinoRESUMEN
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.
Asunto(s)
Leucemia de Células Pilosas/genética , Leucemia Linfocítica Crónica de Células B/genética , Leucemia de Células Plasmáticas/genética , Leucemia Prolinfocítica/genética , Linfoma Folicular/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Cariotipificación , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Bulky mediastinal involvement in Hodgkin disease (HD) is usually considered an adverse prognostic factor. Patients treated with radiotherapy alone (RT) or chemotherapy alone (CT) have a high relapse rate. The combined chemotherapy plus radiotherapy is the therapy of choice. The objective of the present study was to report our results and complications in the treatment of 28 patients with HD with bulky mediastinal involvement. MATERIALS AND METHODS: A retrospective analysis was made of a series of 28 patients with bulky mediastinal disease treated in our hospital from 1973-1993, with RT, CT or combined therapy. The overall survival rate and free of disease, the presence of residual mass, as well as therapy toxicity were studied. RESULTS: The overall remission rate was 85.7%. The overall survival rates and free of disease were 76% and 78% at 19 years. Five patients died due to progression of disease, and one due to pulmonary toxicity. Neither heart disease nor secondary neoplasms were documented. CONCLUSION: Our results, in agreement with those reported in literature, support the combined therapy, chemotherapy plus radiotherapy, as the therapy of choice for patients with HD and bulky mediastinal involvement.
Asunto(s)
Enfermedad de Hodgkin/terapia , Neoplasias del Mediastino/terapia , Adolescente , Adulto , Terapia Combinada , Femenino , Enfermedad de Hodgkin/mortalidad , Humanos , Masculino , Neoplasias del Mediastino/mortalidad , Persona de Mediana Edad , Inducción de Remisión , Estudios Retrospectivos , Tasa de SupervivenciaAsunto(s)
Biomarcadores de Tumor/análisis , Antígeno Ca-125/análisis , Leucemia Linfocítica Crónica de Células B/sangre , Leucemia Prolinfocítica/sangre , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/biosíntesis , Antígeno Ca-125/biosíntesis , Epitelio/metabolismo , Epitelio/patología , Resultado Fatal , Humanos , Leucemia Linfocítica Crónica de Células B/patología , Leucemia Prolinfocítica/patologíaRESUMEN
PURPOSE: In situ hybridization (ISH) is an efficient tool for detecting chromosomal abnormalities in haemopoietic malignancies. Structural and numerical changes typical of most pathological entities can be detected using chromosome-specific probes on interphase or metaphase cells by means of this technique. PATIENTS AND METHODS: In this report we present chromosome analysis combining conventional cytogenetics with ISH in 121 patients affected with different haematological diseases. We have studied 92 patients with B-chronic lymphoproliferative disorders (B-CLPD), 11 myelodysplastic syndromes (MDS), 17 acute nonlymphocytic leukaemias (ANLL), 1 acute lymphocytic leukaemia and 1 aplastic anaemia. The ISH was carried out with two kind of biotin-labeled probes: a) 8 and 12 centromeric alpha satellite probes and b) whole painting chromosome (WPC) library probes from all the chromosomes except numbers 10, 16, 21, X and Y. RESULTS: The cytogenetic analysis of B-CLPD has been hampered by several problems. These leukaemic cells have very low spontaneous mitotic activity and the cell response to mitogens is often poor, unpredictable and variable. Even so, an extra chromosome 12 (+ 12) is one of the most frequent abnormal karyotypes reported. ISH and chromosome 12 specific biotinylated alpha satellite DNA probe was applied in 84 patients with B-CLPD. Among 50 patients with typical chronic lymphocytic leukaemia (CLL) the ISH studies showed two signals of hybridization in the 50 cases. By conventional cytogenetics 9 out of 18 atypical CLL showed chromosomal abnormalities and 7 of them trisomy 12. ISH detected trisomy 12 in 11 of these cases. Trisomy 8 is the most frequent karyotypic change in MDS and ANLL. Cytogenetic results revealed a clear extra copy of chromosome 8 in 13 cases. In all of these trisomic cases, the presence of trisomy 8 clone was confirmed by ISH. ISH revealed trisomy 8 not detected by conventional cytogenetics in 7 cases. The yield of trisomy is much higher with the ISH technique than with conventional cytogenetics. Finally, conventional cytogenetics combined with CISS (chromosomal in situ suppression) hybridization was performed in 15 patients affected with different haematological diseases showing structural aberrations, complex karyotypes or marker chromosomes. CONCLUSIONS: Our results show that ISH can detect both numerical and structural chromosome changes with high specificity and reliability. The fact that chromosome spreads of very poor quality can now be included in such analysis is the decisive advantage of this approach.
Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos/ultraestructura , Neoplasias Hematológicas/patología , Hibridación in Situ , Células Madre Neoplásicas/ultraestructura , Biotina , Centrómero/ultraestructura , Sondas de ADN , Femenino , Neoplasias Hematológicas/clasificación , Neoplasias Hematológicas/genética , Humanos , Interfase , Masculino , MetafaseRESUMEN
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.
Asunto(s)
Aberraciones Cromosómicas , Mieloma Múltiple/genética , Anciano , Anciano de 80 o más Años , Bandeo Cromosómico , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
The cytogenetic studies performed on 7 patients diagnosed of Sezary's syndrome are reported. The chromosomal study was made after 72 hours of culture of phytohaemagglutinin-stimulated peripheral blood. The 7 patients had abnormal karyotypes, the numeral alterations involving chromosomes 10 and 13, whereas the structural abnormalities affected chromosomes 1, 2, 4, 6 and 14. The large-cell variant has been associated with tetraploidy and the small-cell variant with diploidy, but this fact was not confirmed in the present series.
Asunto(s)
Aberraciones Cromosómicas , Trastornos de los Cromosomas , Síndrome de Sézary/genética , Adulto , Anciano , Femenino , Humanos , Cariotipificación , Masculino , Persona de Mediana Edad , PloidiasRESUMEN
Despite the initial description, more than 30 years ago, of an erythroblastic island (EI), little is known about the mechanisms of union and interaction between the different cells of this anatomical and functional bone marrow structure. The observation of entire Els is extremely uncommon in normal bone marrow aspirates because of their dispersion during spread. A case report is described in which a 73-year-old woman, diagnosed 20 years ago with polycythaemia vera, showed multiple Els in a bone marrow aspirate. Their immunophenotyping revealed deficiency of several integrins. The ultrastructural study indicated a marked erythroblastic rophalocytosis. A hypothesis is suggested in view of these observations.
Asunto(s)
Eritroblastos/ultraestructura , Policitemia Vera/patología , Anciano , Examen de la Médula Ósea , Femenino , HumanosRESUMEN
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.
Asunto(s)
Trastornos Cerebrovasculares/etiología , Trombocitosis/complicaciones , Adulto , Anciano , Trastornos Cerebrovasculares/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recuento de Plaquetas , Trombocitosis/diagnóstico , Trombocitosis/fisiopatologíaRESUMEN
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.
Asunto(s)
Células Precursoras Eritroides/patología , Megacariocitos/patología , Trombocitemia Esencial/sangre , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Recuento de Células Sanguíneas , Células Cultivadas , Ensayo de Unidades Formadoras de Colonias , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trombocitemia Esencial/patología , Trombocitosis/sangre , Trombocitosis/patologíaRESUMEN
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).