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1.
Cancer Genet Cytogenet ; 166(2): 163-5, 2006 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-16631474

RESUMEN

Myelodysplastic syndromes (MDS) are rare disorders in children. Molecular mechanisms underlying MDS in children are not yet completely understood. Considering the role of FMS and TP53 gene mutations in adult MDS patients, we analyzed mutations of these genes in a cohort of 35 children with MDS. Single-strand conformation polymorphism polymerase chain reaction analysis performed on FMS codon 969 and TP53 exons 5-9 showed no mutations in the analyzed sequences. Our results suggest that molecular mechanisms of MDS evolution in children are different from those in adults.


Asunto(s)
Genes fms/genética , Genes p53/genética , Mutación/genética , Síndromes Mielodisplásicos/genética , Preescolar , Codón/genética , Estudios de Cohortes , Análisis Mutacional de ADN , ADN de Neoplasias/genética , Exones/genética , Humanos , Polimorfismo Conformacional Retorcido-Simple
3.
Cancer Genet Cytogenet ; 154(2): 180-2, 2004 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-15474158

RESUMEN

In children, myelodysplastic syndromes (MDS) represent less then 10% of all hematological malignancies; consequently, molecular genetic studies dealing with this group of patients are scarce. We have analyzed 35 archival bone marrow samples of children with MDS for the presence of mutations in the first and second exons of the NRAS and KRAS2 genes. Mutations were detected with single-strand conformation polymorphism analysis in three patients. One patient harbored a mutation in the second exon of NRAS and two patients in the second exon of KRAS2. Sequencing was performed in two samples and novel mutations were found in both. One patient had a missense mutation in codon 45 of NRAS; the other had a silent mutation in codon 53 and a missense mutation in codon 55 of KRAS2.


Asunto(s)
Genes ras , Mutación , Síndromes Mielodisplásicos/genética , Niño , Femenino , Humanos , Masculino , Polimorfismo Conformacional Retorcido-Simple
4.
Eur J Haematol ; 72(1): 67-70, 2004 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-14962267

RESUMEN

Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG --> CCG) of beta-globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype. Extremely high level of Hb F and rather mild anemia in our patient could be partially explained by the presence of G gamma Xmn I polymorphism. This case of Hb Sabine, unlike all other reported to date, shows extremely severe thromboembolic complications. It is our opinion that the hypercoagulable state described in thalassemia is not the only factor responsible for this specific clinical state. The presence of MTHFR C677T mutation in heterozygous state found in our patient and unstable Hb Sabine molecules could contribute to development of thromboembolic phenomena. However, it remains unclear whether other factors participate in pathogenesis of the disease. In this paper we emphasize different genetic background of father and son both affected with Hb Sabine, but with markedly different severity of the disease.


Asunto(s)
Hemoglobinas Anormales , Hemoglobinuria/complicaciones , Trombosis Intracraneal/etiología , Secuencia de Bases , Encéfalo/patología , Hemoglobinas Anormales/genética , Humanos , Lactante , Trombosis Intracraneal/diagnóstico , Imagen por Resonancia Magnética , Masculino , Mutación Missense
5.
Srp Arh Celok Lek ; 131(1-2): 73-6, 2003.
Artículo en Serbio | MEDLINE | ID: mdl-14608868

RESUMEN

Beta-catenin is a glicoprotein which has an important role in cell-cell adhesion, as well as in cell signal transmission, in u regulation of gen expression and in interaction with axin and APC (adenomatous poliposis coli). Its oncogenic role in several types of carcinomas in human population is well known. It is very likely that beta-catenin as an protooncogen plays an important role in genesis of Wilms tumor. It is well known that in 15% Wilms tumors there are beta-catenin mutations, which indicates that there is a disorder in Wnt signal path that plays an important role in Wilms tumor genesis. The aim of our study was to investigate b-catenin expression in Wilms tumor, to compare it with the expression in normal renal tissue as well as to see if there is a positive correlation between b-catenin expression in Wilms tumor with tumor stage, histologic type and/or prognostic group.


Asunto(s)
Cadherinas/metabolismo , Proteínas del Citoesqueleto/metabolismo , Neoplasias Renales/metabolismo , Transactivadores/metabolismo , Tumor de Wilms/metabolismo , Humanos , beta Catenina
6.
Srp Arh Celok Lek ; 130(9-10): 323-8, 2002.
Artículo en Serbio | MEDLINE | ID: mdl-12577674

RESUMEN

Several reports have documented various forms of glomerular diseases in adults with myelodysplastic syndromes (MDS), but similar reports in children are lacking. We describe two children with MDS-associated with steroid-responsive nephrotic syndrome (NS). Patient 1, who had MDS with myelofibrosis, presented also hepatosplenomegaly, pancytopenia, chronic hepatitis, moderate proteinuria, hypocomplementamia and elevated ANA titer. During initial prednisone treatment proteinuria markedly diminished and partial but transient haematological improvement occurred. Relapse subsequently occurred that was manifested by overt NS and pancytopenia. High doses of prednisolone led to remission of the renal disease but haematological remission did not occur. Persisting pancytopenia and repeated infections terminated in sepsis, two years after the onset of MDS. Patient 2, who had refractory anaemia with clonal monosomy 19, manifested bowel disease, hepatosplenomegaly, anaemia and non-organic specific autoantibodies. Prednisone led to both clinical and haematological remission. Haematologic disease relapsed 12 months later, when nephrotic-range proteinuria, haematuria and mild azotaemia were also found. Corticosteroid treatment led to long-lasting renal and haematologic remission, maintained by a small dosage of prednisone. In both patients, renal biopsy findings were consistent with those seen in idiopathic NS. A Medline search disclosed 16 cases of glomerulopathy in the course of MDS in adult patients. Clinical features included NS, usually accompanied by renal insufficiency with either acute, chronic, or rapidly progressive glomerulonephritis. On biopsy, membranous nephropathy, crescentic or mesangial proliferative glomerulonephritis and AL amyloidosis, were found. We conclude: (1) that glomerular disease may be present and should be searched for in patients with MDS; (2) that MDS can be added to the list of rare conditions associated with corticosteroid-responsive NS in children.


Asunto(s)
Glucocorticoides/uso terapéutico , Síndromes Mielodisplásicos/complicaciones , Síndrome Nefrótico/complicaciones , Prednisona/uso terapéutico , Anemia Refractaria/complicaciones , Niño , Preescolar , Femenino , Humanos , Síndrome Nefrótico/diagnóstico , Síndrome Nefrótico/tratamiento farmacológico , Mielofibrosis Primaria/complicaciones
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