Construction of a model for early identification of spotted fever and severe fever with thrombocytopenia syndrome / 预防医学

Objective@#To construct a model for clinical identification of spotted fever (SF) and severe fever with thrombocytopenia syndrome (SFTS), so as to provide insights into early identification of SF and SFTS.@*Methods@#The clinical data of laboratory-confirmed SF and SFTS patients in secondary and tertiary hospitals in Lu'an City, Anhui Province from May 2017 to May 2021 were retrieved from Chinese Disease Prevention and Control Information System. Factors affecting SF were identified using a logistic regression model, and the model for early identification of SF and SFTS was created. The model fitting effect was evaluated using Hosmer-Lemeshow test, and the value of the model for identification of SF and SFTS was evaluated using the area under the receiver operating characteristic curve (AUC).@*Results@#Data of 62 SF cases and 115 SFTS cases were included. Multivariable logistic regression analysis showed that rash (β=5.994), C-reactive protein (β=4.409), white blood cell (β=-3.176) and platelet (β=-3.234) were included in the model, which were scored 6, 4, -3 and -3, with a total score ranging from -5 to 10. Hosmer-Lemeshow test revealed a high model fitting effect (χ2=3.245, P=0.662). The AUC of the model was 0.992, and the sensitivity and specificity were 0.935 and 0.991 if the cutoff was 1.@*Conclusion@#A model for early identification of SF and SFTS that includes four variables of rash, C-reactive protein, white blood cell and platelet has been created, which has a high accuracy.

Risk factors for yersiniosis: a case-control study / 预防医学

Objective@#To investigate the risk factors for yersiniosis, so as to provide insights into prevention of yersiniosis.@*Methods@#The patients with yersiniosis admitted to the clinics in the surveillance site of Chengbei Township of Jin'an District and Chengnan Township of Yu'an District in Lu'an City from 2013 to 2021 were included as the case group, and the healthy family members matched to cases were selected as the family control group, while normal residents with a 1︰2 match in the same village, gender, and age difference within 5 years were included in the community control group. Participants' demographics, hand-washing and eating habits, living environment hygiene, poultry and livestock feeding were collected using questionnaire surveys, and factors affecting yersiniosis were identified using a multivariable conditional logistic regression model.@*Results@#There were 43 cases in the case group, with a median (interquartile range) age of 45 (34) years, 91 cases in the family control group, with a median (interquartile range) age of 36 (36) years and 86 cases in the community control group, with a median (interquartile range) age of 46 (34) years. Multivariable conditional logistic regression analysis showed that compared with the family control group, the habit of drinking unboiled water (OR=6.721, 95%CI: 1.765-25.588), and direct consumption of food stored in the refrigerator (OR=7.089, 95%CI: 1.873-26.829) were risk factors for yersiniosis in the case group; and compared with the community control group, not washing hands after contacting with poultry and livestock (OR=50.592, 95%CI: 2.758-927.997), habit of eating raw vegetables and fruits (OR=5.340, 95%CI: 1.022-27.887), direct consumption of food stored in the refrigerator (OR=19.973, 95%CI: 2.118-188.336), and unclean refrigerator (OR=12.692, 95%CI: 1.992-80.869) were risk factors for yersiniosis in the case group. Compared with the family and community control groups, not washing hands after contacting with poultry and livestock (OR=4.075, 95%CI: 1.427-11.637), habit of drinking unboiled water (OR=4.153, 95%CI: 1.331-12.957), habit of eating raw vegetables and fruits (OR=4.744, 95%CI: 1.609-13.993), and direct consumption of food stored in the refrigerator (OR=5.051, 95%CI: 1.773-14.395) were risk factors for yersiniosis in the control group.@*Conclusion@#Unhealthy habits such as eating raw vegetables and fruits, drinking unboiled water, direct consumption of food stored in the refrigerator, unclean refrigerator, and not washing hands after contacting poultry and livestock may increase the risk of yersiniosis.

Efficacy and safety of 0.05% atropine eye drops for retarding myopia progression in Chinese primary school students / 中国学校卫生

Objective@#To evaluate the efficacy and safety of 0.05% atropine eye drops for retarding myopia progression and ocular axial elongation in school children,and to provide a reference for the relevant prevention and control measures of myopia.@*Methods@#A total of 188 children with myopia were randomly assigned to the experimental group(93) or to the control group(95). During the phase (first 24 months) I,children received treatment in each eye once a day. During the phase II (from 25th to the 36th month),no treatment was given. Standardized eye examinations including spherical equivalent(SE),axial length(AL),intraocular pressure(IOP) and potential atropine-related side effect assessment were performed every 6 months.@*Results@#In phase I, the annual progression rates of equivalent spherical degree [(-0.35±0.21)D/year] and axial length [(0.11±0.07)mm/year] in the experimental group were significantly lower than those in the control group [(-0.83±0.26)D/year and (0.37±0.22)mm/year] (P<0.05). After withdrawal of atropine eye drops (phase II), the equivalent spherical degree progression rate [(-0.40±0.29)D/year] and axial length progression rate [(0.10±0.04)mm/year] in the experimental group were significantly lower than those in the control group [(0.73±0.40)D/year and (0.30±0.11)mm/year]. No serious adverse events associated with atropine were found during the follow up period. After the withdrawal of atropine, the pupil size, near visual acuity and adjustment gradually returned to the pre-treatment level.@*Conclusion@#0.05% atropine eye drops may not only maintain the efficacy and reduce potential side effects of atropine but also significantly increase the compliance of children,0.05% atropine is a safe and effective treatment for retarding myopic progression in moderate myopia.

Clinical characteristics and therapeutic effect of TP53 variant in patients with acute leukemia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and prognostic values of TP53 gene variant in patients with acute leukemia(AL).@*METHODS@#The clinical data of 44 newly diagnosed AL patients with TP53 variant detected by next generation sequencing (NGS) were analyzed retrospectively. Targeted sequencing technique containing 108 leukemia-related genes was used for variant analysis, and conventional R-banding technique was used for karyotype analysis. The clinical features, cytogenetics, gene variant, curative effect and survival of AL patients with TP53 gene variant were analyzed.@*RESULTS@#The median age of AML patients with TP53 gene variant (46 years) was higher than that of ALL patients (17.5 years), and the median number of bone marrow blasts (40.5%) was lower than the latter (89.2%), the differences were statistically significant (P< 0.01). A total of 28 cases of abnormal karyotype were detected, of which 25 cases were complex karyotype, 16 cases were monomeric karyotype, 14 cases had -17/17p-. The detection rates of TP53 in complex karyotype, monomeric karyotype and -17/17p- were 59.5%, 38.1% and 33.3%, respectively. Subgroup analysis showed that the detection rate of TP53 gene abnormalities in AML and ALL complex karyotypes was 73.1% and 40% respectively, the difference was statistically significant. A total of 41 TP53 gene variant types were found, and the median variant frequency was 43.58%. 75.6% variant was located in the DNA binding domain. The concomitant variant genes were mainly TET2 and IKZF1. Among 18 AML and 17 ALL patients who could be evaluated the curative effect, the CR rate of one course of treatment was 22.2% and 94.12% respectively, and the difference was statistically significant. The median RFS of 4 cases of AML with CR and 16 cases of ALL with CR were 174 and 246 days respectively, the difference was statistically insignificant. The median OS of AML and ALL was 20 and 375 days respectively, the difference was statistically significant.@*CONCLUSION@#The TP53 gene variant is associated with the complex karyotype of AML, but has no significant effect on ALL. The variant site of TP53 gene was mainly distributed in the DNA binding domain. The remission rate of AML with TP53 gene variant was lower than that of ALL. The prognosis of AL patients with TP53 gene variant is poor, so allogeneic hematopoietic stem cell transplantation should be performed as soon as possible to prolong the survival of the patients.

The genetic characteristics of BCR-ABL-negative myeloproliferative neoplasms / 中华内科杂志

Objective@#To explore the relationship between driver gene mutation (JAK2, MPL and CALR) and disease type in BCR-ABL negative myeloproliferative neoplasms (MPNs) including primary myeloid fibrosis (PMF), essential thrombocytosis (ET) and polycythemia vera (PV).@*Methods@#A total of 32 MPN related genes were detected by high-throughput sequencing in 156 MPN patients. The relationships between disease type and patients′ general performance, the characteristics of driver gene mutations, concomitant gene mutations were analyzed.@*Results@#In the population with JAK2 V617F positive mutation, the proportion of patients over 60 years old in PMF was higher than that with ET or PV. By high-throughput sequencing, 22 concomitant gene mutations were detected in 46 patients with JAK2, MPL or CALR mutations, including 4 (8.3%) in PV, 20 (29.4%) in ET, and 22 (55.0%) in PMF. DNMT3A mutation was detected only in patients with PV, while splicing factor related genes including SF3B1, SRSF2 and U2AF1 were only accompanied by PMF. According to the variation allele frequency (VAF) value of JAK2 V617F mutation, the VAF value associated with PV was the highest (68.15%), followed by PMF (37.7%) and ET (23%). However, there were significant differences in the incidence of JAK2 V617F homozygous among 3 different diseases. In patients with JAK2 mutation, the proportion of other gene mutations in PV and ET was significantly lower than that in PMF.@*Conclusions@#Under the condition of common driver gene mutations (JAK2, MPL and CALR), patients′ age, VAF value and homozygous state, concomitant gene mutations are closely related to different disease type. These correlations help to improve clinical understanding of disease characteristics and risk assessment.

Clonal heterogeneity and its prognostic significance in acute lymphoblastic leukemia / 中华内科杂志

Objective:To explore the characteristics and clinical significance of clonal heterogeneity in patients with acute lymphoblastic leukemia(ALL).Methods:From January 2016 to June 2019, 170 newly diagnosed ALL patients were enrolled in the Department of Hematology, Henan Cancer Hospital, including 93 males and 77 females, with a median age of 17 (2-80) years. Fifty-two ALL-related genes were detected by high-throughput sequencing technique. The clonal heterogeneity of mutations was analyzed according to the variant allele frequency (VAF) and the results of flow cytometry. The prognostic value of mutations was also evaluated.Results:Gene mutations were detected in 121 (71.2%, 121/170) patients, of which 2 or more clones were detected in 18 (52.9%, 18/34) T-cell acute lymphoblastic leukemia patients, while only 23 (16.9%, 23/136) B-cell acute lymphoblastic leukemia patients were positive of multiple mutations ( P<0.01).Gene mutation-related clonal heterogeneity analysis showed that 2 or more clones were frequent in patients with NOTCH1 mutations (13/19 patients) ( P<0.01). Event free survival (EFS) in patients with 3 or more clones was significantly lower than other patients (χ 2=10.330, P=0.016). Child ALL patients had similar result, that multiple clones predicted lower overall survival (OS) and EFS (OS: χ 2=7.974, P=0.047; EFS: χ 2=10.860, P=0.013). Conclusion:Clonal heterogeneity in ALL patients is closely related to the different origin of lymphocyte lineages and the age of onset, which may reveal the nature of the disease and predict the clinical outcome.

The genetic characteristics of BCR-ABL-negative myeloproliferative neoplasms / 中华内科杂志

Objective:To explore the relationship between driver gene mutation (JAK2, MPL and CALR) and disease type in BCR-ABL negative myeloproliferative neoplasms (MPNs) including primary myeloid fibrosis (PMF), essential thrombocytosis (ET) and polycythemia vera (PV).Methods:A total of 32 MPN related genes were detected by high-throughput sequencing in 156 MPN patients. The relationships between disease type and patients′ general performance, the characteristics of driver gene mutations, concomitant gene mutations were analyzed.Results:In the population with JAK2 V617F positive mutation, the proportion of patients over 60 years old in PMF was higher than that with ET or PV. By high-throughput sequencing, 22 concomitant gene mutations were detected in 46 patients with JAK2, MPL or CALR mutations, including 4 (8.3%) in PV, 20 (29.4%) in ET, and 22 (55.0%) in PMF. DNMT3A mutation was detected only in patients with PV, while splicing factor related genes including SF3B1, SRSF2 and U2AF1 were only accompanied by PMF. According to the variation allele frequency (VAF) value of JAK2 V617F mutation, the VAF value associated with PV was the highest (68.15%), followed by PMF (37.7%) and ET (23%). However, there were significant differences in the incidence of JAK2 V617F homozygous among 3 different diseases. In patients with JAK2 mutation, the proportion of other gene mutations in PV and ET was significantly lower than that in PMF.Conclusions:Under the condition of common driver gene mutations (JAK2, MPL and CALR), patients′ age, VAF value and homozygous state, concomitant gene mutations are closely related to different disease type. These correlations help to improve clinical understanding of disease characteristics and risk assessment.

Prognosis of clonal chromosomal abnormalities in Philadelphia negative metaphases cells in chronic myeloid leukemia with tyrosine kinase inhibitor therapy / 中华血液学杂志

Objective@#To investigate the characteristics and prognosis of clonal chromosomal abnormalities appearing in Philadelphia negative metaphases (CCA/Ph-) cells in chronic myeloid leukemia (CML) with tyrosine kinase inhibitor (TKI) therapy.@*Methods@#The clinical data of 30 cases with CCA/Ph- during TKI treatment in Henan Cancer Hospital from August 2007 to July 2017 were retrospectively analyzed. The univariate factor was analyzed by Kaplan-Meier method. Multiple-factor was analyzed by Cox proportional risk model.@*Results@#Of the 30 cases, 19 (63.3%) were males. At the first detection of CCA/Ph- the median age was 44 (rang 14-68) years old and the median treatment of TKI was 13 (rang 2-94) months. The clones proportion of first detected CCA/Ph-≥ 50% was found in 18 (60.0%) cases. TKI treatment for 3 months with BCR-ABLIS less than 10% was seen in 14 (46.7%) patients. 63.3% (19/30) of CCA/Ph- was transient (only one time) and 36.7% (11/30) was repeated (≥2 times) . Trisomy 8 dominant accounted for 60.0% (18/30) , -7/7q- for 13.3% (4/30) , loss of chromosome Y 6.7%. With a median of follow-up 50 months, 76.7% (23/30) cases were in complete cytogenetic response (CCyR) ; 63.3% (19/30) in major molecular response (MMR) , 43.3% (13/30) in undetectable minimal residual disease (UMRD) . The median event-free survival rate of (EFS) were 44 months, and 2-year and 5-year EFS were (82.1±7.3) % and (52.4±12.8) %, respectively. The median overall survival (OS) were 50 months, and 2-year and 5-year OS rates were (92.6±5.0) % and (77.2±14.7) %, respectively. Univariate analysis shows that the 2-year EFS of who in males, more than 2 times CCA/Ph-, BCR-ABLIS>10% at 3 months after TKI were significantly lower than women, transient CCA/Ph-, and BCR-ABLIS≤10% (P<0.05) . The 2-year OS rate in whom the occurrence frequency of CCA/Ph- more than twice was significantly lower than those with transient CCA/Ph- (P<0.05) . Multivariate analysis showed that CCA/Ph- was an independent risk factor (RR=4.741, 95%CI 1.21-18.571, P=0.018) for EFS in CML patients.@*Conclusion@#Trisomy 8, -7/7q-, and -Y were the most common CCA/Ph- during TKI treatment, with high clones proportion of ≥50%. CCA/Ph- mainly occurred transiently or was permanent occasionally. CCA/Ph- recurrence (≥2 times) was an independent risk factor for EFS and OS in CML with TKI.

The influence of additive clonal chromosome abnormalities in Ph negative cells on the efficacy of chronic myeloid leukemia / 中华内科杂志

Objective@#To investigate the influence of additional clonal chromosome abnormalities in Ph negative cells (CCA/Ph-) on the efficacy of chronic myeloid leukemia (CML) after tyrosine kinase inhibitors (TKI) treatment.@*Methods@#The clinical data of 28 CML patients with CCA/Ph- treated in Henan Cancer Hospital from July 2014 to December 2017 were analyzed retrospectively. The univariate analysis was carried out by Kaplan-Meier method. Multivariate analysis was done by Cox proportional risk model.@*Results@#A total of 28 CCA/Ph-patients were recruited including 17 males and 11 females with median age of 42.5 years old. The most common CCA/Ph-were trisomy 8 (60.7%), monosomy 7 (14.3%). 64.3% CCA/Ph-were transient and 35.7% recurrent (more than 2 times). Cytopenia in two or three lineages of peripheral blood was seen in 42.9% patients. As to the efficacy, 89.3% patients achieved major cytogenetic response (MCyR), 25% with major molecular response (MMR). The median follow-up time was 26.5 months. Treatment failure (TF) of TKI occurred in 32.1% patients with median duration of response 8 (1-41) months. Univariate analysis showed that TF rate was significantly correlated with the frequency of CCA/Ph-and cytopenia (all P<0.05). The MMR rate was also significantly correlated with cytopenia (P<0.05). Cytopenia of two lineages or pancytopenia was an independent risk factor related to MMR rate (RR=3.868, 95%CI 1.216-12.298, P=0.022) .@*Conclusions@#Cytopenia in CCA/Ph-appears to be an independent risk factor of MMR in CML patients with TKI treatment. The recurrent CCA/Ph-may link to higher treatment failure rate. Drug withdrawal or alternative strategy should be considered according to response and the ABL kinase mutations.

Analysis of chromosome karyotype characteristics in patients with chronic myeloid leukemia / 白血病·淋巴瘤

Objective To explore the characteristics of chromosome karyotypes in patients with chronic myeloid leukemia (CML),and to provide help to individualized treatment.Methods The date of chromosome karyotypes of 313 patients and FISH of 45 of these patients with CML excluding Ph chromosome negative (Ph-) after treatment were collected from January 2014 to June 2015.Karyotypes were detected by R-banding.Results In the 313 cases,307 cases (98.08 ％) were Ph chromosome positive (Ph+) and 6 cases (1.92 ％) were Ph-.In the Ph+ patients,288 cases (93.81％) were classical Ph+,and 19 cases (6.19 ％) were variant rearrangements.There were 48 cases (15.34 ％) with additional chromosome changes in all patients,including 41 cases (13.10 ％) with classical Ph+ and 7 cases (2.24 ％) with variant rearrangements.The most common additional chromosome changes were in the following order:+der(22) Ph (35.42 ％),+8 (33.33 ％) and +21 (12.50 ％).The most frequent pattern of combination was +der(22) combined with +8 (16.67 ％),followed by +8 combined with +21 (10.42 ％).The proportion of pure Ph+ patients in chronic phase was higher than that of advanced phase,but proportion of classical Ph+ patients with additional chromosome changes in chronic phase was lower than that in advanced phase (x2 =1 11.55,P ＜ 0.01).The proportions of chronic phase and advanced phase patients with simple variant rearrangements were not different from those with complex variant rearrangements (P =0.582).The results of FISH in 45 cases were all positive,including 5 cases with 2 GIR1Y.Conclusion Karyotype analysis can reveal the instability of genetic and the characteristics of disease progression by identifying the evolution of Ph,which provides the basis for clinical doctors to choose suitable treatment.

Clinical features and survival analysis of patients with CD56 expression in de- novo acute myeloid leukemia with t（8;21） / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the clinical features and survival of patients with CD56 expression in de- novo acute myeloid leukemia（AML）with t（8;21). .</p><p><b>METHODS</b>Clinical data of 82 de novo AML with t（8;21）who were newly diagnosed from Jan 2008 to Apr 2014 were analyzed retrospectively, 50 expressed CD56 and 32 not. Clinical characteristics and prognoses were compared between patients expressing and nonexpressing CD56.</p><p><b>RESULTS</b>There were no statistically significant differences in terms of age, gender, white blood cell count（WBC）, percentage of bone marrow blasts, extramedullary infiltration rate, the early mortality or the presence of additional cytogenetic abnormalities between CD56 + and CD56- groups（P＞0.05). The expressions of lymphatic antigens CD19 between CD56 + and CD56- groups showed significant difference （30.0% vs 53.1% , P=0.036). The complete remission and 3-year overall survival（OS）showed no significant differences between CD56+ and CD56-groups, while 3- year disease- free survival（DFS）showed significant differences（25.8% vs 46.9%, P=0.014). Multivariable analysis for DFS identified CD56 positivity as an independent predictor. DFS of who received allogeneic hematopoietic stem cell transplantation（HSCT）was better than those treated with intermediate- dose cytarabine/high dose cytarabine（IDAC）as postremission therapy.</p><p><b>CONCLUSION</b>The expression of CD56 in de-novo AML with t（8;21) appeared to be associated with poorer prognosis.</p>

Chromosome karyotype analysis of acute lymphocytic leukemia / 白血病·淋巴瘤

Objective To investigate the chromosome karyotype of acute lymphocytic leukemia (ALL) and its correlation with the clinical feature and efficacy.Methods The chromosomes of bone marrow/peripheral blood from 110 cases of patients with ALL were prepared after 24 hours culture,and G-banding were used to analyze karyotypes.Results Among 110 patients with ALL,71 cases (64.5 ％) had clonal chromsomal normalities,39 cases (35.5 ％) had clonal chromsomal abnormalities,24 cases (21.8 ％) had chromosome structural abnormalities,11 cases (10.0 ％) had chromosome number abnormalities,3 cases (2.7 ％) had chromosome number and structure abnormalities,one case had chromosomal abnormalities complex karyotype.Efficacy in patients with ALL with t(9;22) (q34;q11) was worse than the other patients (Fisher s exact text,P =0.045).There was no significant difference on efficacy between in adult ALL associated with t(9;22) (q34;q11) and in children with ALL (Fisher's exact text,P =0.506).Conclusion Chromosome karyotype of ALL patients is random,chromosomal translocations such as t(9;22)(q34;q1 1) and t(4;11) (q21;q23) have poorer treatment outcomes.

Detection of genomic abnormalities by interphase fluorescence in situ hybridization in multiple myeloma / 中华检验医学杂志

Objective To investigate the clinical significance of I-FISH for detection of genomic abnormalities in MM. Methods Twenty newly diagnosed MM patients(seven cases at stage Ⅰ , five cases at stage Ⅱ and eight cases at stage Ⅲ according to Bataille staging) were analyzed by combining the technique of CC (R-binding stain) and I-FISH [ including GLP13q14 (RBI gene), GLP17p13. 1 (P53 gene),GLP13q14. 3(D13S319) ,GLP1q21 ,GLP14q32(IgH gene) DNA sequence probes]. These two methods were compared for the detection rates of chromosomal and genomic abnormalities in MM and the association between genomic abnormalities and Bataille stages was also analyzed. Results CC examination showed only 1 case [5% (1/20) ] was found complex chromosomal abnormalities--46,XX,-2,del(3) (p21) ,add(6)(q26) ,der(10)(q26),der(14)(q32), + mar, inc[6]. While I-FISH assay showed that 12 cases [60%(12/20) ] were found genomic abnormalities. The frequencies of RB1, D13S319 and P53 were all 30%(6/20), and the frequencies of IgH gene and 1q21 were both 20% (4/20). The detection rate of the I-FISH was much higher than CC (χ2 = 9. 09, P = 0. 001) according to paired χ2 test. Of 20 patients,6 cases had RB1 gene abnormality, 1 case at stage Ⅰ , 2 cases at stage Ⅱ and 4 cases at stage Ⅲ. Of 20 patients, 6 cases had D13S319 gene abnormality, 2 cases at stage Ⅰ , 1 case at stage Ⅱ and 3 cases at stage Ⅲ. Of 20 patients, 6 cases in 20 had P53 gene abnormality, 2 cases at stage Ⅰ and 4 cases at stage Ⅲ. Of 20 patients, 4 cases had 1q21 gene abnormality, 2 cases at stage Ⅰ and 2 cases at stage Ⅲ. Of 20 patients, 4 cases had IGH gene abnormality, 1 case at stage Ⅰ and 3 cases at stage Ⅲ. Conclusion Ⅰ-FISH has higher detection rate for the genomic abnormalities in MM and can be used in detection of MM patients in different Bataille stages.

Clinical significance of detection of bcr-abl mRNA in chronic myeloid leukemia / 白血病·淋巴瘤

Objective To evaluate significance of the quantification of bcr-abl mRNA in diagnosis and therapy of chronic myeloid leukemia (CML),essentiality significance for monitoring minimal residual disease. Methods Bcr-abl mRNA of 518 CML patients were detected using real-time PCR. Results Expression of bcr-abl mRNA was gradually increased among blastic phase (BP) (12.6 %),accelerated phase (AP) (25.4 %) and chronic phase (CP) (57.2 %) (P<0.05). Quantification of bcr-abl mRNA was cut down gradually after allotransplantation in the patients and becomes normal after treatment for 6 months. But quantification of bcr-abl mRNA inpatients treated with imatinib mesylate became normal after 12 months. Conclusion Real-time PCR was reliable and can be used for diagnosis,monitoring the treatment outcome,detecting the minimal residual disease,and predicting blast crisis.

Detection of genomic abnormalities in chronic lymphocytic leukemia by fluorescence in situ hybridization / 中华检验医学杂志

Objective To investigate the value of panel fluorescence in situ hybridization (panel FISH)for detection of genomic aberrations in chronic lymphocytic leukemia(CLL). Methods Five types of fluorescein-labelled DNA probes including five sequence specific probes D13S25 for 13q14. 3, RB1, p53, ATM (11 q23)and centromeric probe for chromosome (CSP12) were used to perform fluorescence in situ hybridization assays in 17 patients with CLL. Its results were compared with that obtain by conventional cytogenetic (CC)examination. Results In 17 patients with CLL, CC examination showed that only one case (1/17) was found to have chromosomal abnormality that was simultaneous trisomies 3,8 and 18, whereas panel FISH assay showed that 10 cases (10/17) were found to have genomic aberrations including deletion of D13S25 in 4 cases,deletion of ATM in 2 cases,deletion of p53 in 1 case,deletion of D13S25 combined RB1 in 1 case and 1 case with a variety of abnormalities. Conclusions Panel FISH is a useful method for detection of genomic aberration in CLL If it is combined with CC,it can obviously enhance the detection rate of chromosomal abnormalities in CLL.