Expression of p190 BCR-ABL fusion gene in a patient with chronic myeloid leukemia

Carvalho, Paulo V. B.; Lourenço, Gustavo Jacob; Zocca, Maristela; Pagnano, Kátia Bórgia Barbosa; Lorand‐Metze, Irene; Souza, Cármino Antonio De; Lima, Carmen Sílvia Passos

doi:10.1590/s1516-84842003000300009

Cited by 4 publications

(3 citation statements)

References 5 publications

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“…This variant has been associated with monocytosis, 10 but there are also reports on pediatric patients with monocytosis and variant p210. 3 However, this case has no monocytosis, which concurs with the description by Carvalho et al 11 who reported a 62-year-old woman with p190 variant and no monocytosis. 11 It has been shown that the presence of certain specific BCR-ABL1 transcripts determine clinical response.…”

Section: Discussionsupporting

confidence: 90%

“…3 However, this case has no monocytosis, which concurs with the description by Carvalho et al 11 who reported a 62-year-old woman with p190 variant and no monocytosis. 11 It has been shown that the presence of certain specific BCR-ABL1 transcripts determine clinical response. Suttorp et al 12 documented in pediatric patients with CML and e14a2 (b3a2) transcript have a faster response to Imatinib in comparison to those who present with e13a2 (b2a2) variant.…”

Section: Discussionsupporting

confidence: 90%

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Variant p190 of the BCR-ABL1 gene in a pediatric patient with chronic myeloid leukemia

Angulo¹

2019

IJFCM

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Chronic myeloid leukemia is a clonal disease characterized by the overproduction of cells of the myeloid lineage, this entity affects mainly adults, describing a low frequency in the pediatric population. The development of the disease is due to the formation of the BCR-ABL1 fusion gene, the 190 kDa product being an infrequent finding. We present the case of an 11-year-old patient whose disease started 2 months before diagnosis, characterized by weight loss. Physical examination revealed parenchymal pallor and splenomegaly with an analytical test showing leukocytosis with the presence of myeloid precursors, for which morphological, cytogenetic and molecular study of bone marrow was performed. It was established the diagnosis of CML in chronic phase with the unusual presence of the transcript p190. Therefore, initial treatment with imatinib was indicated, showing a suboptimal response, being replaced by dasatinib, once a major molecular response was documented, a transplant of hematopoietic stem cells from a related compatible donor was scheduled. Currently the patient is 17 years old and molecular tests show that he is free of the disease.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 90%

Variant p190 of the BCR-ABL1 gene in a pediatric patient with chronic myeloid leukemia

Angulo¹

2019

IJFCM

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“…Em conseqüência, há depleção de nutrientes, o que compromete a diferenciação e maturação das células das linhagens eritrocíticas e linfocíticas da medula óssea. 3 A LMC é uma doença proliferativa do sistema hematopoiético, caracterizada pela expansão clonal de uma célulatronco primitiva e pluripotente, denominada stem cell, que tem a capacidade de se diferenciar em várias células do tecido sangüíneo. Ao diagnóstico, cerca de 90% dos pacientes apresentam um cariótipo marcador na maioria de suas metáfases em células de medula óssea: o cromossomo Ph.…”

Section: Introductionunclassified

Polimorfismo do gene tp53 no códon 72 em pacientes com suspeita de LMC

Hamú¹,

Oliveira²,

Silva³

et al. 2007

Rev. Bras. Hematol. Hemoter.

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A leucemia mielóide crônica (LMC) é uma doença proliferativa do sistema hematopoiético, caracterizada pela expansão clonal de uma célula-tronco primitiva e pluripotente denominada stem cell. Este tipo de leucemia está associado, em 90% dos casos, à translocação t(9;22)(q34;q11). Essa alteração cromossômica estrutural codifica para uma proteína quimérica BCR-ABL, que confere às células leucêmicas uma alta resistência à morte, independente do agente indutor desse processo. A proteína p53 é uma reguladora transcricional induzida por danos no DNA, fato que resulta na parada do ciclo celular com conseqüente ativação de mecanismos de reparo ou mesmo na indução à apoptose. As mutações no gene TP53 são as alterações genéticas mais comuns em tumores malignos humanos. O presente estudo teve como objetivo genotipar e determinar a freqüência alélica do polimorfismo do TP53 no códon 72 (arginina -Arg e prolina -Pro), em pacientes com suspeita de LMC, pela Reação em Cadeia da Polimerase. Desta forma, os resultados indicaram que 73,4% (23/30) dos pacientes apresentaram homozigose para arginina (Arg/Arg) e 26,6% (7/30) heterozigose (Arg/ Pro). Não foi encontrado nenhum paciente homozigoto para prolina (Pro/Pro). Os resultados obtidos sugerem que o polimorfismo do gene TP53 no códon 72 não é um fator de risco importante para a iniciação, promoção e progressão da LMC. Rev. bras. hematol. hemoter. 2007;29(4):346-350. Palavras-chave:Leucemia mielóide crônica; LMC; polimorfismo; TP53.

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Role of Methylenetetrahydrofolate Reductase (Mthfr), Glutathione S-transferases (Gsts M1 and T1) and Haptoglobin (Hp) Gene Polymorphisms in Susceptibility to Chronic Myeloid Leukemia (Cml)

Miranda-Vilela

Lordelo²

2013

J Hematol Thrombo Diseases

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Expression of p190 BCR-ABL fusion gene in a patient with chronic myeloid leukemia

Abstract: Expression of p190 BCR-ABL fusion gene in a patient with chronic myeloid leukemia Expressão do rearranjo gênico BCR-ABL com ponto de quebra na região menor do gene BCR em um paciente com leucemia mielóide crônica

Cited by 4 publications

References 5 publications

Variant p190 of the BCR-ABL1 gene in a pediatric patient with chronic myeloid leukemia

Variant p190 of the BCR-ABL1 gene in a pediatric patient with chronic myeloid leukemia

Polimorfismo do gene tp53 no códon 72 em pacientes com suspeita de LMC

Role of Methylenetetrahydrofolate Reductase (Mthfr), Glutathione S-transferases (Gsts M1 and T1) and Haptoglobin (Hp) Gene Polymorphisms in Susceptibility to Chronic Myeloid Leukemia (Cml)

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