1.Diagnosis of adult Philadelphia chromosome-like acute lymphoblastic leukemia by fluorescence in situ hybridization
Dainan LIN ; Qiuli LI ; Xianjun HE ; Huan LI ; Libin LIAO ; Han HE ; Lingling ZHOU ; Zhen LI ; Xiaoli LIU ; Qifa LIU ; Hongsheng ZHOU ; Rui CAO
Chinese Journal of Hematology 2020;41(9):749-755
Objective:To establish a screening system of adult Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) by fluorescence in situ hybridization (FISH) .Method:Based on the genetic characteristics of Ph-like ALL, FISH probes were designed for ABL1, ABL2, JAK2, EPOR, CRLF2, CSF1R, PDGFRB, and P2RY8 gene breakpoints, which were used to screen Ph-like ALL in B-ALL patients without BCR-ABL1, ETV6-RUNX1, MLL, and E2A gene arrangement. Furthermore, it was analyzed in combination with flow immunophenotype, next-generation sequencing for targeted gene mutations, and RNA sequencing (RNA-seq) .Results:A total of 189 adult B-ALL patients diagnosed in Nanfang Hospital from January 2016 to April 2019 were enrolled in this study. Using FISH and/or PCR, BCR-ABL1, ETV6-RUNX1, MLL, or E2A arrangement was detected in 83 of them, and Ph-like ALL was detected by FISH in the other 106, resulting in the presence of typical gene arrangements of Ph-like ALL in 12 patients (11.3% , 12/106) . Validated by RNA-seq, the sensitivity and specificity of FISH for Ph-like ALL were 71.4% and 95.8% , respectively. After further analysis with immunophenotype, targeted gene mutations, and RNA-seq, 14 (13.2% , 14/106) were diagnosed with Ph-like ALL.Conclusion:This data shows high specificity of FISH for identification of Ph-like ALL and combining immunophenotype and sequencing technology can improve the diagnostic system.
2.Correlations of medial femoral condyle subchondral insufficiency fracture with medial meniscus injury pattern and extrusion
Ying QIN ; Zhixi LI ; Baochen WEI ; Zhensong SHI ; Xiaolan LIU ; Qiuli HAN
Chinese Journal of Medical Imaging Technology 2024;40(9):1405-1409
Objective To observe the correlations of subchondral insufficiency fracture(SIF)of medial femoral condyle with medial meniscus injury pattern and medial meniscus extrusion(MME).Methods Data of 36 patients with clinically confirmed unilateral medial femoral condyle SIF were retrospectively analyzed.The patients were divided into low-grade and high-grade groups according to SIF grade.Cartilage injury,medial meniscus injury and MME were compared between groups,and the correlations of SIF grade with cartilage injury,osteonecrosis volume(OV)and MME were analyzed.Cartilage injury grade,OV and MME were compared between groups,and the correlations were explored.Results There were 18 cases in each group.The percentage of cartilage injury grade Ⅲ-Ⅳ,OV and MME value(the distance between the vertical line of medial meniscus and the vertical line of tibial plateau cartilage)in high-grade group were greater than those in low-grade group(all P<0.05).Significant difference of injury grades of meniscus posterior horn was found between groups(P=0.007).SIF grade was positively correlated with cartilage injury grade,OV and MME value(rs=0.710,0.765,0.540,all P≤0.01).MME value was positively correlated with meniscal injury degree and tear range(rs=0.502,0.520,both P<0.01).There were 4,19 and 13 cases with 0,1 and 2 grade MME,respectively,and significant differences of cartilage injury grades,OV and MME values were found among different MME grades(all P<0.05).MME value was positively correlated with cartilage injury grade and OV(rs=0.451,0.579,both P<0.01).Conclusion In SIF patients,OV and cartilage injury were both correlated with medial meniscus injury pattern and MME.