Asunto(s)
Anemia , Neutropenia , Niño , Humanos , Cobre , Neutropenia/etiología , Anemia/etiología , YeyunoRESUMEN
Haemolytic uraemic syndrome is an important cause of acute renal impairment in childhood. We review the incidence, and clinical and laboratory features of haemolytic uraemic syndrome in a Chinese population. Five patients were identified from 2006 to 2008. All patients were young children with associated invasive Streptococcus pneumoniae pulmonary infection. Serotypes 3, 14, and 19A were confirmed in four patients. The classical post-diarrhoeal form associated with Escherichia coli (O157:H7) infection was not seen. One patient died of acute respiratory failure. Streptococcus pneumoniae infection, as an associated condition in haemolytic uraemic syndrome, is important and relatively common in Chinese patients, especially among children. The acute clinical picture is similar to that reported in the western literature, except for an uncommon association with meningitis. The medium-term renal outcome of the Chinese population appears to be more favourable than the Caucasians. Widespread vaccination against Streptococcus pneumoniae may have resulted in changes in bacterial epidemiology and clinicians should be continuously aware of this severe disease. The use of washed blood components for transfusion in the acute stage requires further study.
Asunto(s)
Síndrome Hemolítico-Urémico/microbiología , Infecciones Neumocócicas/complicaciones , Streptococcus pneumoniae/aislamiento & purificación , Preescolar , China , Femenino , Estudios de Seguimiento , Humanos , Masculino , Infecciones Neumocócicas/microbiología , Insuficiencia Respiratoria/microbiología , Infecciones del Sistema Respiratorio/microbiología , Estudios Retrospectivos , Serotipificación , Índice de Severidad de la Enfermedad , Streptococcus pneumoniae/clasificaciónRESUMEN
BACKGROUND: Fetal haemoglobin (HbF) level modifies the clinical severity of HBB disorders. Intergenic variants of HBS1L-MYB on chromosome 6q23 have recently been shown to be a major quantitative trait locus (QTL) influencing HbF levels in normal Caucasian adults. METHODS: A unique and well-characterised cohort of 238 Chinese subjects with beta-thalassaemia trait was used to conduct a single-nucleotide polymorphism (SNP) association study for HbF level. RESULTS: Within this locus, 29 trait-associated SNPs in a non-coding 56 kb segment were identified. They were divided into five linkage disequilibrium (LD) blocks in the Chinese participants. CONCLUSIONS: The data independently validate for the first time the significance of the HBS1L-MYB intergenic region in regulating HbF expression in a separate ethnic group that has a high prevalence of beta-thalassaemia. Functional studies to unravel the biological significance of this region in regulating HbF production is clearly indicated, which may lead to new strategies to modify the disease course of severe HBB disorders.
Asunto(s)
Cromosomas Humanos Par 6/genética , ADN Intergénico/genética , Hemoglobina Fetal/metabolismo , Regulación de la Expresión Génica , Sitios de Carácter Cuantitativo/genética , Talasemia beta/genética , Adolescente , Anciano , Anciano de 80 o más Años , Niño , Preescolar , China , Estudios de Cohortes , Femenino , Hemoglobina Fetal/genética , Humanos , Lactante , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Adulto JovenAsunto(s)
Enfermedad Injerto contra Huésped/inmunología , Antígenos HLA/inmunología , Trasplante de Hígado/efectos adversos , Resultado Fatal , Enfermedad Injerto contra Huésped/diagnóstico , Prueba de Histocompatibilidad , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos XRESUMEN
Clinical outcome and mutations of 96 core-binding factor acute myeloid leukemia (AML) patients 18-60 years old were examined. Complete remission (CR) after induction was 94.6%. There was no significant difference in CR, leukemia-free-survival (LFS) and overall survival (OS) between t(8;21) (N=67) and inv(16) patients (N=29). Univariate analysis showed hematopoietic stem cell transplantation at CR1 as the only clinical parameter associated with superior LFS. Next-generation sequencing based on a myeloid gene panel was performed in 72 patients. Mutations in genes involved in cell signaling were associated with inferior LFS and OS, whereas those in genes involved in DNA methylation were associated with inferior LFS. KIT activation loop (AL) mutations occurred in 25 patients, and were associated with inferior LFS (P=0.003) and OS (P=0.001). TET2 mutations occurred in 8 patients, and were associated with significantly shorter LFS (P=0.015) but not OS. Patients negative for KIT-AL and TET2 mutations (N=41) had significantly better LFS (P<0.001) and OS (P=0.012) than those positive for both or either mutation. Multivariate analysis showed that KIT-AL and TET2 mutations were associated with inferior LFS, whereas age ⩾40 years and marrow blast ⩾70% were associated with inferior OS. These observations provide new insights that may guide better treatment for this AML subtype.
Asunto(s)
Factores de Unión al Sitio Principal/genética , Factores de Unión al Sitio Principal/metabolismo , Proteínas de Unión al ADN/genética , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/metabolismo , Mutación , Proteínas Proto-Oncogénicas c-kit/metabolismo , Proteínas Proto-Oncogénicas/genética , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Terapia Combinada , Metilación de ADN , Análisis Mutacional de ADN , Proteínas de Unión al ADN/metabolismo , Dioxigenasas , Femenino , Trasplante de Células Madre Hematopoyéticas/métodos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Leucemia Mieloide Aguda/mortalidad , Leucemia Mieloide Aguda/terapia , Masculino , Persona de Mediana Edad , Pronóstico , Proteínas Proto-Oncogénicas/metabolismo , Proteínas Proto-Oncogénicas c-kit/genética , Transducción de Señal , Análisis de Supervivencia , Translocación Genética , Trasplante Homólogo , Adulto JovenRESUMEN
Hyperdiploidy sometimes is found in mycosis fungoides-Sézary syndrome, but its diagnostic significance remains undefined. We report an unusual case of Sézary syndrome manifesting with leukemic large cell transformation. Conventional karyotypic analysis showed the presence of a near-tetraploid neoplastic clone. With dual-color cytometric analysis, we showed that the large Sézary cells were near-tetraploid with a DNA index of 1.86, thereby demonstrating a direct relationship between cell size and ploidy. Comparative genomic hybridization further showed chromosomal imbalances that were not revealed on conventional karyotyping. Our findings suggest that hyperdiploidy may be a marker of large cell transformation, so that when this karyotypic abnormality is found in mycosis fungoides-Sézary syndrome, a search for such a complication is indicated.
Asunto(s)
Transformación Celular Neoplásica , Linfoma de Células B Grandes Difuso/patología , Micosis Fungoide/patología , Neoplasias Primarias Múltiples/patología , Síndrome de Sézary/patología , Neoplasias Cutáneas/patología , Anciano , Núcleo Celular/ultraestructura , Aberraciones Cromosómicas , Trastornos de los Cromosomas , Citometría de Flujo , Humanos , Cariotipificación , Linfoma de Células B Grandes Difuso/genética , Masculino , Micosis Fungoide/genética , Neoplasias Primarias Múltiples/genética , Hibridación de Ácido Nucleico , Ploidias , Síndrome de Sézary/genética , Neoplasias Cutáneas/genéticaRESUMEN
We report a case of acute myelocytic leukemia without maturation exhibiting a novel t(2;3)(q31;p13). Conventional cytogenetics showed the concomitant occurrence of a single metaphase with 47,XX,+8. Nevertheless, interphase cytogenetics by fluorescence in situ hybridization using a chromosome 8 alpha-satellite DNA probe showed that the percentage of cells with three hybridization signals was within the control range.
Asunto(s)
Cromosomas Humanos Par 2/genética , Cromosomas Humanos Par 3/genética , Leucemia Mieloide Aguda/genética , Translocación Genética/genética , Femenino , Humanos , Cariotipificación , Persona de Mediana EdadRESUMEN
We report a middle-aged female with an 11-year history of nonprogressive pancytopenia and severely hypoplastic marrow with minimal morphologic dysplasia. A diagnosis of hypoplastic myelodysplastic syndrome (MDS) was made because of the finding of a persistent clonal abnormality, del(13)(q12q14), and the subsequent demonstration of a single Auer rod-containing blast in the peripheral blood smear. The case illustrates the problems in the differentiation between aplastic anemia and hypoplastic MDS.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 13/genética , Síndromes Mielodisplásicos/diagnóstico , Síndromes Mielodisplásicos/genética , Adulto , Médula Ósea/patología , Femenino , Humanos , Cariotipificación , Megacariocitos/patología , Síndromes Mielodisplásicos/patologíaRESUMEN
Cytogenetic biclonality is a rare occurrence in chronic lymphocytic leukemia. A 59-year-old man was diagnosed to have B-cell chronic lymphocytic leukemia with typical morphology and immunophenotype (CD5+, CD19+, and CD23+). However, karyotypic analysis of the small lymphocytes showed the presence of two distinct unrelated clones, including one with inv(14).
Asunto(s)
Aberraciones Cromosómicas/patología , Cromosomas Humanos Par 13 , Cromosomas Humanos Par 14 , Leucemia Linfoide/patología , Anciano , Bandeo Cromosómico , Trastornos de los Cromosomas , Inversión Cromosómica , Células Clonales , Humanos , Leucemia Linfoide/genética , MasculinoRESUMEN
A 33-year-old man was found to have stage IV diffuse large cell lymphoma with visceral, cutaneous, and central nervous system involvement. Although examination of the posttreatment bone marrow failed to show morphologic evidence of lymphoma involvement, cytogenetic study of the marrow mononuclear cells showed the presence of a clonal abnormality t(9;10)(q32;q22), a hitherto undescribed chromosomal abnormality in diffuse large B-cell lymphoma.
Asunto(s)
Médula Ósea/patología , Cromosomas Humanos Par 10/genética , Cromosomas Humanos Par 9/genética , Linfoma de Células B/genética , Linfoma de Células B/patología , Translocación Genética , Adulto , Mapeo Cromosómico , Humanos , Cariotipificación , Masculino , Reacción en Cadena de la PolimerasaRESUMEN
An 84-year-old female presenting with proptosis and hyperviscosity syndrome was found to have Waldenström macroglobulinemia. Karyotypic analysis showed structural chromosomal abnormalities involving both homologous chromosomes 6 with a deleted 6q at q21-q23 and a complex three-break rearrangement in the t(6;13;21)?(q21;q14;q11). A literature review suggests that deletions of chromosome 6 at 6q21 are associated with lymphoplasmacytoid differentiation and IgM production in B-cell chronic lymphoproliferative disorders.
Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 6 , Macroglobulinemia de Waldenström/genética , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Macroglobulinemia de Waldenström/sangre , Macroglobulinemia de Waldenström/diagnósticoRESUMEN
The occurrence of trisomy 4 or trisomy 10 as the sole chromosomal abnormality in acute myeloid leukemia (AML) is very rare, the reported frequency being less than 1%. We describe two cases of AML-M2 with concomitant trisomy 4 and trisomy 10, a hitherto undescribed phenomenon. They showed two unusual features, including immunoreactivity for CD56 and a short-lived but rapidly progressive myelodysplastic phase preceding the appearance of frank leukemia. These findings raise the possibility that AML with concommitant trisomy 4 and trisomy 10 may constitute a distinctive subtype of AML.
Asunto(s)
Cromosomas Humanos Par 10/genética , Cromosomas Humanos Par 4/genética , Leucemia Mieloide/genética , Trisomía , Enfermedad Aguda , Adulto , Bandeo Cromosómico , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Persona de Mediana EdadRESUMEN
A 71-year-old male was found to have chronic lymphocytic leukemia. Cytogenetic study of the leukemic lymphocytes shows a 46,XY,der(8;15)+15. The der(8;15) is a novel chromosomal abnormality in human malignancies. The resulting loss of 8p and trisomy 15q are both unusual chromosomal changes in chronic lymphocytic leukemia.
Asunto(s)
Cromosomas Humanos Par 15 , Cromosomas Humanos Par 8 , Leucemia Linfocítica Crónica de Células B/genética , Translocación Genética , Anciano , Humanos , Cariotipificación , MasculinoRESUMEN
A 37-year-old woman that presented with cervical lymphadenopathy and leukocytosis was found to have precursor T-lymphoblastic leukemia (T-ALL). Cytogenetic study of the leukemic cells showed a 46,XX, t(1;22)(p34;q13) karyotype. The t(1;22)(p34;q13) is a novel chromosomal abnormality in human malignancies and is probably a variant form of the t(1;14)(p34;q11) found in precursor T-ALL.
Asunto(s)
Cromosomas Humanos Par 1 , Leucemia Linfoide/genética , Translocación Genética , Adulto , Cromosomas Humanos Par 22 , Femenino , Humanos , CariotipificaciónRESUMEN
De novo acute myeloid leukemia with trilineage myelodysplasia (AML/TMDS) is an uncommon form of leukemia characterized by a dyshematopoietic picture accompanying the acute leukemia, a poor response to induction chemotherapy, and a tendency to relapse with pure myelodysplastic syndrome. Cytogenetic information on this entity is scarce, although some cases have been reported to be associated with t(7;11)(p15;p15). A 41-year-old woman who had a history of radiotherapy for breast cancer presented with AML/TMDS and was found to have a unique t(11;12)(p15;q13) abnormality.
Asunto(s)
Cromosomas Humanos Par 11 , Cromosomas Humanos Par 12 , Leucemia Mieloide Aguda/genética , Síndromes Mielodisplásicos/genética , Translocación Genética , Adulto , Femenino , HumanosRESUMEN
A 19-year-old man with Ph-positive chronic granulocytic leukemia developed lymphoblastic transformation. Cytogenetic evolution was observed, with an abnormal clone showing i(17q) together with the t(9;22). Chronic phase of the chronic granulocytic leukemia were re-established with systemic chemotherapy, which also led to disappearance of the clone with i(17q). However, the acute lymphoblastic leukemia relapsed after 6 weeks, with the emergence of a phenotypically and genetically identical but cytogenetically distinctive clone. Our findings suggest that cytogenetic evolution in transformed chronic granulocytic leukemia reflects only the instability of the blastic clones, and may not determine its phenotypic differentiation.
Asunto(s)
Deleción Cromosómica , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/inmunología , Leucemia Mielógena Crónica BCR-ABL Positiva/patología , Activación de Linfocitos/genética , Translocación Genética , Adulto , Crisis Blástica/genética , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 17 , Cromosomas Humanos Par 3 , Células Clonales , Humanos , Cariotipificación , Masculino , RecurrenciaRESUMEN
Deletion of chromosome Xq23 has been reported in a number of solid tumors, including soft tissue sarcoma, malignant melanoma, astrocytoma, and adenocarcinoma. The deleted Xq often occurs in a setting of very complex karyotypic changes. A similar abnormality has also been described in rare cases of acute myeloid leukemia (AML) but in no other hematologic malignancies. In this study, we report the occurrence of del(X)(q23) in two cases of AML.
Asunto(s)
Deleción Cromosómica , Leucemia Mieloide/genética , Cromosoma X , Enfermedad Aguda , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Persona de Mediana EdadRESUMEN
Cytogenetically-unrelated clones are infrequently seen in hematologic malignancies, and are particularly uncommon in acute lymphoblastic leukemia. We report a case of T-cell acute lymphoblastic leukemia with L2 morphology which demonstrated three cytogenetically distinct clones: 46,XY,t(2;9)(p21;q34)/46,XY,del(6)(q21q23)/47,XX,+8. Interphase cytogenetic analysis by fluorescence in situ hybridization (FISH) confirmed the presence of trisomy 8 in a significant proportion of lymphoblasts, while reverse transcription-polymerase chain reaction (RT-PCR) did not show the presence of BCR/ABL fusion. This is the first report describing the occurrence of cytogenetic triclonality in de novo T-cell acute lymphoblastic leukemia.
Asunto(s)
Aberraciones Cromosómicas , Análisis Citogenético , Leucemia-Linfoma de Células T del Adulto/genética , Niño , Cromosomas Humanos Par 2 , Cromosomas Humanos Par 6 , Cromosomas Humanos Par 8 , Cromosomas Humanos Par 9 , Eliminación de Gen , Duplicación de Gen , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Translocación GenéticaRESUMEN
A 39-year-old man was diagnosed as having acute myeloblastic leukemia with maturation (AML-M2). Cytogenetic studies revealed 45,X,-Y,t(8;20)(q22;q13)[21]/46,XY[3]. Molecular analysis of the marrow mononuclear cells by reverse transcription-polymerase chain reaction with nested AML1 and ETO primers showed amplification of the AML1/ETO fusion transcript, thus confirming that the chromosomal aberration was in fact a masked t(8;21), i.e., variant t(8;20;21)(q22;q13;q22).
Asunto(s)
Leucemia Mieloide Aguda/patología , Proteínas Proto-Oncogénicas , Adulto , Bandeo Cromosómico , Cromosomas Humanos Par 20 , Cromosomas Humanos Par 21 , Cromosomas Humanos Par 8 , Subunidad alfa 2 del Factor de Unión al Sitio Principal , Proteínas de Unión al ADN/genética , Humanos , Leucemia Mieloide Aguda/genética , Masculino , Proteína 1 Compañera de Translocación de RUNX1 , Factores de Transcripción/genética , Translocación GenéticaRESUMEN
12q13 abnormalities have been reported to be associated with a variety of benign and malignant solid tumors. Recently, they have been shown to be a nonrandom karyotypic change in acute myeloid leukemia. We report a case of de novo acute myeloid leukemia with trilineage myelodysplasia showing t(12;17)(q13;q23) as the sole chromosomal abnormality. A review of the literature indicates that 12q13 translocation in acute myeloid leukemia is often associated with concomitant dysmyelopoietic changes. There is also evidence to suggest that 12q13 translocation occurs more frequently in acute myeloid leukemia with a prior history of mutagenic exposure or karyotypic indicators of secondary leukemia.