Impact of KIT D816 mutation on salvage therapy in relapsed acute myeloid leukemia with t(8;21) translocation / 中华血液学杂志

Objective: To evaluate the impact of KIT D816 mutation on the salvage therapy in relapsed acute myeloid leukemia (AML) with t(8;21) translocation. Method: The characteristics of the first relapsed AML with t(8;21) translocation from 10 hospitals were retrospectively collected, complete remission (CR(2)) rate after one course salvage chemotherapy and the relationship between KIT mutation and CR(2) rate was analyzed. Results: 68 cases were enrolled in this study, and 30 cases (44.1%) achieved CR(2). All patients received KIT mutation detection, and KIT D816 mutation was identified in 26 cases. The KIT D816 positive group had significantly lower CR(2) compared with non-KIT D816 group (23.1% vs 57.1%, χ(2)=7.559, P=0.006), and patients with longer CR(1) duration achieved significantly higher CR(2) than those with CR(1) duration less than 12 months (74.1% vs 31.9%, χ(2)=9.192, P=0.002). KIT D816 mutation was tightly related to shorter CR(1) duration. No significant difference of 2 years post relapse survival was observed between KIT D816 mutation and non-KIT D816 mutation group. Conclusion: KIT D816 mutation at diagnosis was an adverse factor on the salvage therapy in relapsed AML with t(8;21) translocation, significantly related to shorter CR1 duration, and can be used for prediction of salvage therapy response. KIT D816 mutation could guide the decision-making of salvage therapy in relapsed AML with t(8;21) translocation.

Impact of KIT D816 mutation on salvage therapy in relapsed acute myeloid leukemia with t(8;21) translocation / 中华血液学杂志

Objective@#To evaluate the impact of KIT D816 mutation on the salvage therapy in relapsed acute myeloid leukemia (AML) with t(8;21) translocation. @*Method@#The characteristics of the first relapsed AML with t(8;21) translocation from 10 hospitals were retrospectively collected, complete remission (CR2) rate after one course salvage chemotherapy and the relationship between KIT mutation and CR2 rate was analyzed. @*Results@#68 cases were enrolled in this study, and 30 cases (44.1%) achieved CR2. All patients received KIT mutation detection, and KIT D816 mutation was identified in 26 cases. The KIT D816 positive group had significantly lower CR2 compared with non-KIT D816 group (23.1% vs 57.1%, χ2=7.559, P=0.006), and patients with longer CR1 duration achieved significantly higher CR2 than those with CR1 duration less than 12 months (74.1% vs 31.9%, χ2=9.192, P=0.002). KIT D816 mutation was tightly related to shorter CR1 duration. No significant difference of 2 years post relapse survival was observed between KIT D816 mutation and non-KIT D816 mutation group. @*Conclusion@#KIT D816 mutation at diagnosis was an adverse factor on the salvage therapy in relapsed AML with t(8;21) translocation, significantly related to shorter CR1 duration, and can be used for prediction of salvage therapy response. KIT D816 mutation could guide the decision-making of salvage therapy in relapsed AML with t(8;21) translocation.

Piebaldism: a clinical survey and mutation analysis in a pedigree / 中华皮肤科杂志

Objective To investigate the clinical features of and gene mutations in a Chinese Han pedigree with piebaldism. Methods Clinical data were collected with informed consent from a pedigree with piebaldism, processed and documented. A clinical genetic analysis was conducted and pedigree chart was drawn. Genomic DNA was extracted from the peripheral blood of 14 patients and 40 unaffected individuals in the family as well as 50 unrelated human controls, and subjected to the amplification of 21 exons and flanking sequences of the KIT gene by PCR. Sequence analysis was performed by Mutation SurveyorTM. Results There were 73 members in the family, and of them, 14 were diagnosed with piebaldism according to typical clinical features. Piebaldism was inherited in an autosomal dominant pattern in this family. A heterozygous 4-base insertion mutation 1900insATGA in exon 13 of KIT gene was identified in all the 14 affected family members, which resulted in a frame-shift mutation at codon 634 and produced a premature translation termination codon. This mutation was undetected in either the unaffected family members or unrelated controls. Up to the time of this writing, this mutation had not been previously reported. Conclusion The novel mutation 1900insATGA in the KIT gene may be the cause of clinical phenotype of piebaldism in the family.

Testes bioquímico (albumina e proteína de ligação da vitamina D) e molecular (gene KIT) para detecção de marcadores genéticos para pelagem tobiana em cavalos pampa e paint / Biochemical (albumin and vitamin D-binding protein) and molecular (KIT gene) tests for detection of genetic markers for tobiano coat color in pampa and paint horses

Foram utilizados 159 cavalos Pampa, registrados na Associação Brasileira dos Criadores de Cavalo Pampa, e um grupo-controle, de 32 cavalos da raça Paint, ambos os grupos provenientes de plantéis de diferentes regiões brasileiras, com o objetivo de comparar os testes bioquímico e molecular para detecção de marcadores genéticos para pelagem tobiana em cavalos Pampa. Houve diferença significativa (P<0,001) entre os testes bioquímico e molecular, nos cavalos Pampa, mas o mesmo fato não ocorreu com os da raça Paint. Os resultados mostraram que o marcador molecular (KIT) foi mais eficiente na identificação dos prováveis cavalos homozigotos do que os marcadores bioquímicos albumina (Al) e proteína de ligação da vitamina D (Gc), em ambas as raças.

In this study, 159 Pampa horses, registered at the Associação Brasileira dos Criadores de Cavalo Pampa, and a control group of 32 Paint horses, both coming from herds located in different Brazilian regions, were used to compare biochemical and molecular tests for detection of genetic markers for the Tobiano coat color pattern in Pampa horses. Difference (P<0.001) between biochemical and molecular tess in Pampa horses was observed, but not for the Paint horses. The results showed that the molecular marker (KIT) was more efficient to identify the probable homozygous dominant horses than the biochemical markers albumin (Al) and vitamin D-binding Protein (Gc), in both breeds.