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1.
Pathol Biol (Paris) ; 55(1): 59-72, 2007 Feb.
Artículo en Francés | MEDLINE | ID: mdl-16690228

RESUMEN

A cytological, immunophenotypical and cytogenetical study of 136 chronic B-cell proliferations (93 CLL, 43 B-cell lymphomas) was led in order to precise diagnosis and to characterize and appreciate chromosomal rearrangements. In this series, mainly selected on blood lymphocytosis criteria, B-CLL were twice more frequent than small B-cell lymphomas. Probes used revealed cryptic abnormalities, which remained unknown by conventional cytogenetics (CC). The frequency of clonal abnormalities (CC and FISH) was 74.8% for this series, with 74.4% for lymphomas and 75.3% for CLL, mainly of Binet stage A (69 A, 13 B, 1 C, 10 unspecified). Proportion was 88.4% in A stages and 84.6% in B stages. In CLL, 13q14 cryptic deletions and translocations were widely majority, 14q32 translocations and trisomy 12 being predominant in lymphoma series. Interphase FISH study of non-clonal metaphasic abnormalities with locus-specific probes often revealed unrecognised clones.


Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos/genética , Leucemia Linfocítica Crónica de Células B/genética , Linfoma de Células B/genética , Aneuploidia , Cromosomas Humanos/ultraestructura , Cromosomas Humanos Par 13/genética , Cromosomas Humanos Par 13/ultraestructura , Células Clonales/patología , Estudios de Cohortes , Femenino , Humanos , Inmunofenotipificación , Hibridación Fluorescente in Situ , Cariotipificación , Leucemia Linfocítica Crónica de Células B/patología , Linfoma de Células B/patología , Trastornos Linfoproliferativos/genética , Masculino , Estadificación de Neoplasias , Eliminación de Secuencia
2.
Cancer Genet Cytogenet ; 163(2): 113-22, 2005 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-16337853

RESUMEN

Chromosomal abnormalities of erythroleukemia (EL) are often described as complex and unspecific. A retrospective study of 75 EL defined following the WHO classification was performed by the Groupe Francophone de Cytogénétique Hématologique (GFCH) in order to reexamine the cytogenetics of this infrequent leukemia subtype. Clonal chromosomal abnormalities were found in 57 patients (76%), distributed in 4 subgroups according to their ploidy status: pseudodiploid (16%), hypodiploid (47%), hyperdiploid (19%), and 18% mixed cases associating 2 different clones (hypodiploid+hyperdiploid) or (pseudodiploid+hyperdiploid). Complex rearrangements and hypodiploid chromosome number were widely dominant (50%). Partial or entire monosomies represented 56% of abnormalities. Chromosomes 5 and 7 were the most frequently involved (41 and 33 times, respectively), followed by chromosomes 8, 16, and 21 (19 times each). Unbalanced abnormalities were more frequent than balanced. All these kinds of abnormalities were observed in de novo as well as in secondary EL. Four out of 7 cases of "pure erythroid" leukemia were associated with a BCR-ABL fusion. Lastly, no chromosome abnormality specific to EL could be established. However, the large overlap of chromosomal abnormality patterns of EL (pure erythroid form excepted) and refractory anemia with excess of blasts in transformation (RAEB-t) favors the hypothesis of similarities between these 2 hematologic disorders.


Asunto(s)
Aberraciones Cromosómicas , Leucemia Eritroblástica Aguda/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Cromosomas Humanos , Humanos , Persona de Mediana Edad , Ploidias , Estudios Retrospectivos , Análisis de Supervivencia
3.
Eur J Intern Med ; 16(8): 598-600, 2005 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-16314244

RESUMEN

The association of sarcoidosis with hematological malignancies is a well-known phenomenon. To our knowledge, we report the first case involving sarcoidosis and acute promyelocytic leukemia (APL) t(15;17)(q22;q12-21). The major interest lies in the chronology of the two diseases: the APL demonstrated an unusual smoldering evolution, suggesting that pre-existing sarcoidosis may have a non-fortuitous immunological impact on leukemic clone proliferation.

5.
Ann Biol Clin (Paris) ; 62(5): 513-20, 2004.
Artículo en Francés | MEDLINE | ID: mdl-15355801

RESUMEN

Although the French-American-British (FAB) morphologic classification of myeloid malignancies has been accepted for many years, the important advances in cytogenetic, immunophenotype and genetic fields needed to be integrated in an updated approach using all the available informations. Thus, the World Health Organization (WHO) Classification of haematopoietic malignancies not only incorporates morphology, immunophenotype, cytogenetic and molecular features, but also ensures to be clinically useful. This collaborative project has begun in 1995 and has been published in 2001. The proposed WHO classification is less a disruption with regard to the FAB classification than an updated revision where morphology is always important. These review emphasises the modifications proposed in the new WHO classification concerning the myeloid disorders.


Asunto(s)
Leucemia Mieloide/clasificación , Leucemia Mieloide/diagnóstico , Enfermedad Aguda , Enfermedad Crónica , Humanos , Síndromes Mielodisplásicos/clasificación , Síndromes Mielodisplásicos/diagnóstico , Trastornos Mieloproliferativos/clasificación , Trastornos Mieloproliferativos/diagnóstico
6.
Leukemia ; 18(8): 1340-6, 2004 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-15190256

RESUMEN

Imatinib mesylate (Gleevec), an inhibitor of the BCR-ABL tyrosine kinase, was introduced recently into the therapy of chronic myeloid leukemia (CML). Several cases of emergence of clonal chromosomal abnormalities after therapy with imatinib have been reported, but their incidence, etiology and prognosis remain to be clarified. We report here a large series of 34 CML patients treated with imatinib who developed Philadelphia (Ph)-negative clones. Among 1001 patients with Ph-positive CML treated with imatinib, 34 (3.4%) developed clonal chromosomal abnormalities in Ph-negative cells. Three patients were treated with imatinib up-front. The most common cytogenetic abnormalities were trisomy 8 and monosomy 7 in twelve and seven patients, respectively. In 15 patients, fluorescent in situ hybridization with specific probes was performed in materials archived before the initiation of imatinib. The Ph-negative clone was related to previous therapy in three patients, and represented a minor pre-existing clone that expanded after the eradication of Ph-positive cells with imatinib in two others. However, in 11 patients, the new clonal chromosomal abnormalities were not detected and imatinib may have had a direct effect. No myelodysplasia was found in our cohort. With a median follow-up of 24 months, one patient showed CML acceleration and two relapsed.


Asunto(s)
Aberraciones Cromosómicas , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Leucemia Mieloide Crónica Atípica BCR-ABL Negativa/genética , Leucemia Mieloide Crónica Atípica BCR-ABL Negativa/patología , Piperazinas/uso terapéutico , Pirimidinas/uso terapéutico , Adulto , Anciano , Aneuploidia , Benzamidas , Cromosomas Humanos Par 7 , Cromosomas Humanos Par 8 , Células Clonales/patología , Femenino , Humanos , Mesilato de Imatinib , Incidencia , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos
7.
Can J Physiol Pharmacol ; 82(2): 140-5, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-15052295

RESUMEN

The utilization of high linear energy transfer (LET) radiations, such as fast neutrons or carbon ions (hadrontherapy), offers promising perspectives in radiotherapy. While it is well known that by combining radiotherapy and chemotherapy, important therapeutic advantages can be obtained to cure cancer, there have been, so far, very few investigations on the effects of treatments combining an irradiation with high-LET particles and cancer drugs. The present study was therefore undertaken to examine the effects of exposure to 65 MeV fast neutrons combined with cisplatin in a murine T cell lymphoma (RDM4) in vitro. The cells were irradiated at doses ranging from 2 to 8 Gy without or with addition of cisplatin shortly before the irradiation, at concentrations between 0.3 and 12.5 micro M. These treatments were applied concomitantly. Proliferation and apoptosis were assessed at different time intervals thereafter. The combination of irradiation with cisplatin was found to be more cytotoxic than either treatment alone. Furthermore, the cytotoxicity induced by this cotreatment resulted not only from apoptosis but also from other forms of cell death.


Asunto(s)
Antineoplásicos/farmacología , Cisplatino/farmacología , Neutrones Rápidos , Animales , Apoptosis/efectos de los fármacos , Apoptosis/efectos de la radiación , División Celular/efectos de los fármacos , División Celular/efectos de la radiación , Línea Celular Tumoral , Relación Dosis-Respuesta a Droga , Relación Dosis-Respuesta en la Radiación , Citometría de Flujo , Linfoma de Células T , Ratones , beta-Galactosidasa/metabolismo
8.
Leuk Lymphoma ; 44(10): 1793-5, 2003 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-14692535

RESUMEN

We report the case of a 30-year-old HIV-infected man admitted for a meningeal syndrome and a zoster rash. The CSF had cytological features suggesting a primary CNS lymphoma (PCNSL). The large lymphoid cells had a fine chromatin with nucleoli, a basophilic cytoplasm with azurophilic granules and high mitotic activity. Several arguments demonstrated the viral origin of the meningitis: the large lymphoid cells were of T origin with no evidence of clonal TCR gamma gene rearrangement. The PCR was positive for Varicella-Zoster Virus (VZV) and EBV DNA. Clinical evolution was favorable under acyclovir. We should be cautious in the differential diagnosis between viral meningitis and PCNSL.


Asunto(s)
Neoplasias del Sistema Nervioso Central/virología , Herpes Zóster/diagnóstico , Herpesvirus Humano 3/patogenicidad , Linfoma Relacionado con SIDA/virología , Meningitis Viral/diagnóstico , Adulto , Neoplasias del Sistema Nervioso Central/líquido cefalorraquídeo , Neoplasias del Sistema Nervioso Central/diagnóstico , ADN Viral/líquido cefalorraquídeo , Diagnóstico Diferencial , Infecciones por Virus de Epstein-Barr/líquido cefalorraquídeo , Infecciones por Virus de Epstein-Barr/virología , Ganciclovir/uso terapéutico , Herpes Zóster/líquido cefalorraquídeo , Herpes Zóster/fisiopatología , Herpesvirus Humano 3/aislamiento & purificación , Herpesvirus Humano 4/aislamiento & purificación , Humanos , Linfoma Relacionado con SIDA/líquido cefalorraquídeo , Linfoma Relacionado con SIDA/diagnóstico , Masculino , Reacción en Cadena de la Polimerasa
9.
Leukemia ; 16(12): 2417-22, 2002 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-12454747

RESUMEN

The orphan homeobox gene HOX11L2 was previously found to be transcriptionally activated as a result of the t(5;14)(q35;q32) translocation in three T-ALL cases. We now tested by RT-PCR Hox11L2 expression in 23 consecutive cases of T-ALL (15 children aged 0.8-14 years, eight adults aged 17-55 years) and as control 13 B-ALL patients from a single institution. Hox11L2 expression was undetectable in all patients with B-ALL, nor in adults with T-ALL. Nine children (60% of the cases), all boys, expressed Hox11L2. Blast cells from most of the latter patients carried surface CD1a, CD10 and not CD34 antigens, in contrast to the other children. FISH, M-FISH and IPM-FISH analysis failed to detect a t(5;14)(q35;q32) in one of them, which suggests a possible distinct genetic mechanism in Hox11L2 expression induction. Hence, Hox11L2 expression seems to be the most frequent abnormality in childhood T-ALL to date, comparable to the t(12;21) in child B-ALL.


Asunto(s)
Proteínas de Homeodominio/genética , Leucemia-Linfoma de Células T del Adulto/genética , Proteínas Oncogénicas/genética , Adolescente , Adulto , Factores de Edad , Anciano , Antígenos CD/análisis , Estudios de Casos y Controles , Niño , Preescolar , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 5 , Femenino , Regulación de la Expresión Génica , Humanos , Inmunofenotipificación , Incidencia , Lactante , Leucemia-Linfoma de Células T del Adulto/mortalidad , Masculino , Proteínas Proto-Oncogénicas , Estudios Retrospectivos , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Supervivencia , Tasa de Supervivencia , Translocación Genética
10.
Leukemia ; 16(1): 7-12, 2002 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-11840257

RESUMEN

We report three cases of T-ALL in which conventional cytogenetic analysis yielded normal karyotypes, but for which a new M-FISH technique (IPM-FISH) was able to detect a translocation. For these patients this technique highlighted a new, recurring and cryptic translocation t(5;14)(q35;q32) in childhood T-ALL which might be phenotypically restricted. The most innovative part of this technique is the use of interspersed polymerase chain reaction (IRS-PCR) painting probes that show an R-band pattern simultaneous with the combinatorial labeling. Contrary to the DOP-PCR, IRS-PCR-derived probes provide stronger hybridization signals at the telomeric ends that potentially increase the possibility of detecting cryptic translocations. All the IPM-FISH findings were validated by FISH with whole chromosome painting and unique sequence probes. These results demonstrate the efficient use of IPM-FISH as an improved, single-step method for the identification of cryptic chromosomal abnormalities. This new IPM-FISH technique is a good tool to display cryptic chromosomal abnormalities.


Asunto(s)
Pintura Cromosómica/métodos , Cromosomas Humanos Par 14/ultraestructura , Cromosomas Humanos Par 5/ultraestructura , Leucemia-Linfoma de Células T del Adulto/genética , Translocación Genética , Niño , Preescolar , Cromosomas Humanos Par 14/genética , Cromosomas Humanos Par 5/genética , Sondas de ADN , Humanos , Cariotipificación , Leucemia-Linfoma de Células T del Adulto/patología , Masculino , Fenotipo , Reacción en Cadena de la Polimerasa/métodos , Telómero/genética , Telómero/ultraestructura
11.
Hematol J ; 1(4): 250-3, 2000.
Artículo en Inglés | MEDLINE | ID: mdl-11920198

RESUMEN

INTRODUCTION: Flow cytometry analysis of peripheral blood cells is a simple and reliable method for establishing the diagnosis of paroxysmal nocturnal hemoglobinuria. The behavior of the clone may vary; increasing or diminishing over time but prospective study of such variations have not been reported so far. MATERIALS AND METHODS: We report herein the results of a prospective follow-up study of 25 patients. Our aims were twofold: first, to evaluate the behavior of the clone (using flow cytometry) over the time; and second, to evaluate if such variations could predict the occurrence of complications or could be used as a tool for monitoring the residual disease after bone marrow transplantation. RESULTS: It was found that flow cytometry can be used to specifically follow the residual disease post allogeneic marrow transplantation in four patients, and that even without transplantation the defective clone can significantly decrease or even disappear (three patients). CONCLUSION: We found that most of the patients did have significant change in the amount of affected cells during more than three years, and that an increased size of the clone poorly predicted the occurrence of complications.


Asunto(s)
Anemia Aplásica/patología , Glicosilfosfatidilinositoles/deficiencia , Hemoglobinuria Paroxística/patología , Adulto , Anemia Aplásica/sangre , Anemia Aplásica/complicaciones , Anemia Aplásica/tratamiento farmacológico , Anemia Aplásica/terapia , Suero Antilinfocítico/uso terapéutico , Recuento de Células Sanguíneas , Trasplante de Médula Ósea , Células Clonales/patología , Terapia Combinada , Ciclosporina/uso terapéutico , Femenino , Citometría de Flujo , Estudios de Seguimiento , Hemoglobinuria Paroxística/sangre , Hemoglobinuria Paroxística/complicaciones , Hemoglobinuria Paroxística/tratamiento farmacológico , Hemoglobinuria Paroxística/terapia , Humanos , Inmunosupresores/uso terapéutico , Inmunoterapia , Masculino , Proteínas de la Membrana/deficiencia , Proteínas de la Membrana/genética , Persona de Mediana Edad , Embarazo , Complicaciones Hematológicas del Embarazo/sangre , Complicaciones Hematológicas del Embarazo/patología , Estudios Prospectivos , Linfocitos T , Trasplante Homólogo
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