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1.
Chinese Journal of Medical Genetics ; (6): 1334-1339, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1009299

RESUMO

OBJECTIVE@#To explore the clinical and laboratory characteristics of hematological tumors with different types of abnormalities in platelet derived growth factor β (PDGFRβ) gene.@*METHODS@#A retrospective analysis was carried out on 141 patients with abnormal long arm of chromosome 5 (5q) and comprehensive medical history data from Changhai Hospital Affiliated to Naval Medical University from 2009 to 2020, and their clinical data were collected. R-banding technique was used for chromosomal karyotyping analysis for the patient's bone marrow, and fluorescence in situ hybridization (FISH) was used to detect the PDGFRβ gene. The results of detection were divided into the amplification group, deletion group, and translocation group based on FISH signals. The three sets of data column crosstabs were statistically analyzed, and if the sample size was n >= 40 and the expected frequency T for each cell was >= 5, a Pearson test was used to compare the three groups of data. If N < 40 and any of the expected frequency T for each cell was < 5, a Fisher's exact test is used. Should there be a difference in the comparison results between the three sets of data, a Bonferroni method was further used to compare the data.@*RESULTS@#In total 98 patients were detected to have PDGFRβ gene abnormalities with the PDGFRβ probe, which yielded a detection rate of 69.50% (98/141). Among these, 38 cases (38.78%) had PDGFRβ gene amplifications, 57 cases (58.16%) had deletions, and 3 (3.06%) had translocations. Among the 98 cases, 93 were found to have complex karyotypes, including 37 cases from the amplification group (97.37%, 37/38), 55 cases from the deletion group (96.49%, 55/57), and 1 case from the translocation group (33.33%, 1/3). Analysis of three sets of clinical data showed no significant gender preponderance in the groups (P > 0.05). The PDGFRβ deletion group was mainly associated with myeloid tumors, such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) (P < 0.001). The PDGFRβ amplification group was more common in lymphoid tumors, such as multiple myeloma (MM) (P < 0.001). The PDGFRβ translocation group was also more common in myelodysplastic/myeloproliferative tumors (MDS/MPN).@*CONCLUSION@#Tumors with PDGFRβ gene rearrangement may exhibit excessive proliferation of myeloproliferative tumors (MPN) and pathological hematopoietic changes in the MDS, and have typical clinical and hematological characteristics. As a relatively rare type of hematological tumor, in addition to previously described myeloid tumors such as MPN or MDS/MPN, it may also cover lymphoid/plasma cell tumors such as multiple myeloma and non-Hodgkin's lymphoma.


Assuntos
Humanos , Relevância Clínica , Neoplasias Hematológicas/genética , Hibridização in Situ Fluorescente , Mieloma Múltiplo , Síndromes Mielodisplásicas , Estudos Retrospectivos , Translocação Genética
2.
Chinese Journal of Cancer Biotherapy ; (6): 265-268, 2000.
Artigo em Chinês | WPRIM | ID: wpr-412401

RESUMO

Objective: To explore whether gancyclovir (GCV) can inhibit the proliferation and induce the erythro-differ-entiation of the K562 human myeloid leukemia cell line. Methods: 562 cells were cultured with GCV for 4 days to detect cellular changes cloning efficiency, benzidine-positive rate, flow eytometry analysis, and telomerase activity. Results: When 562 cells grew in the medium containing GCV, the cellular growth and division were gradually suppressed,growth fracture decreased and further differentiation towards the cell producing hemoglobins was found. Conclusion: GCVcan inhibit proliferation and induce erythro-differentiation of K562 cells.

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