1.Genetic analysis of a case of B-acute lymphoblastic leukaemia with double Philadelphia chromosomes and double derivative chromosome 9s.
Xuxi ZHANG ; Youwen QIN ; Zhaoqiang FU ; Bingyao ZHANG ; Mengya SU ; Chuxian ZHAO ; Chun WANG
Chinese Journal of Medical Genetics 2023;40(2):242-246
OBJECTIVE:
To explore the genetic basis for a rare case of acute B-lymphocytic leukemia (B-ALL) with double Philadelphia chromosomes (Ph) and double derivative chromosome 9s [der(9)].
METHODS:
A patient with double Ph and double der(9) B-ALL who presented at Shanghai Zhaxin Intergrated Traditional Chinese and Western Medicine Hospital in June 2020 was selected as the subject. Bone marrow morphology, flow cytometry, G-banding karyotyping, fluorescence in situ hybridization (FISH), genetic testing and chromosomal microarray analysis (CMA) were used to analyze bone marrow samples from the patient at various stages.
RESULTS:
At initial diagnosis, the patient's bone marrow morphology and flow immunotyping have both supported the diagnosis of B-ALL. G-banded karyotyping of the patient indicated double Ph, in addition with hyperdiploid chromosomes involving translocations between chromosomes 9 and 22. BCR-ABL1 fusion gene was positive. Genetic testing at the time of recurrence revealed presence of a heterozyous c.944C>T variant in the kinase region of the ABL1 gene. FISH showed a signal for ABL1-BCR fusion on both chromosome 9s. CMA showed that the mosaicism homozygosity ratio of chromosome 9 was about 40%, and the mosaicism duplication ratio of chromosome 22 was about 43%.
CONCLUSION
Since both der(9) homologs were seen in 40% of cells, the possible mechanism for the double der(9) in this patient may be similar to that of double Ph, which might have resulted from non-disjunction during mitosis in the Ph chromosome-positive cell clone.
Humans
;
Philadelphia Chromosome
;
In Situ Hybridization, Fluorescence/methods*
;
China
;
Chromosome Aberrations
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics*
;
Translocation, Genetic
;
Fusion Proteins, bcr-abl/genetics*
;
Chromosomes, Human, Pair 9/genetics*
3.Prognostic analysis of children with Philadelphia chromosome-like acute lymphoblastic leukemia common genes.
Wan Di HU ; Bai LI ; Shu Fang SU ; Yu Feng LIU ; Wei LIU ; Wen Lin ZHANG ; Wen Li ZUO ; Run Hong YU
Chinese Journal of Pediatrics 2023;61(5):446-452
Objective: To summarize the clinical data and prognosis of children with Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) common genes. Methods: This was a retrospective cohort study.Clinical data of 56 children with Ph-like ALL common gene cases (Ph-like ALL positive group) treated from January 2017 to January 2022 in the First Affiliated Hospital of Zhengzhou University, Henan Children's Hospital, Henan Cancer's Hospital and Henan Provincial People's Hospital were collected, 69 children with other high-risk B cell acute lymphoblastic leukemia (B-ALL) at the same time and the same age were selected as the negative group. The clinical characteristics and prognosis of two groups were analyzed retrospectively. Comparisons between groups were performed using Mann-Whitney U test and χ2 test. Kaplan-Meier method was used for survival curve, Log-Rank test was used for univariate analysis, and the Cox regression model was used for multivariate prognosis analysis. Results: Among 56 Ph-like ALL positive patients, there were 30 males and 26 females, and 15 cases were over 10 years old. There were 69 patients in Ph-like ALL negative group. Compared with the negative group, the children in positive group were older (6.4 (4.2, 11.2) vs. 4.7 (2.8, 8.4) years), and hyperleukocytosis (≥50×109/L) was more common (25% (14/56) vs. 9% (6/69)), the differences were statistically significant (both P<0.05). In the Ph-like ALL positive group, 32 cases were positive for IK6 (1 case was co-expressed with IK6 and EBF1-PDGFRB), 24 cases were IK6-negative, of which 9 cases were CRLF2 positive (including 2 cases with P2RY8-CRLF2, 7 cases with CRLF2 high expression), 5 cases were PDGFRB rearrangement, 4 cases were ABL1 rearrangement, 4 cases were JAK2 rearrangement, 1 case was ABL2 rearrangement and 1 case was EPOR rearrangement. The follow-up time of Ph-like ALL positive group was 22 (12, 40) months, and 32 (20, 45) months for negative group. The 3-year overall survival (OS) rate of positive group was significantly lower than the negative group ((72±7) % vs. (86±5) %, χ2=4.59, P<0.05). Compared with the 24 IK6-negative patients, the 3-year event free survival (EFS) rate of 32 IK6 positive patients was higher, the difference was statistically significant ((88±9) % vs. (65±14) %, χ2=5.37, P<0.05). Multivariate Cox regression analysis showed that the bone marrow minimal residual disease (MRD) not turning negative at the end of first induction (HR=4.12, 95%CI 1.13-15.03) independent prognostic risk factor for patient with Ph-like ALL common genes. Conclusions: Children with Ph-like ALL common genes were older than other high-risk B-ALL patients at diagnosis, with high white blood cells and lower survival rate. The bone marrow MRD not turning negative at the end of first induction were independent prognostic risk factor for children with Ph-like ALL common gene.
Male
;
Female
;
Humans
;
Child
;
Prognosis
;
Philadelphia Chromosome
;
Retrospective Studies
;
Receptor, Platelet-Derived Growth Factor beta/genetics*
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy*
;
Neoplasm, Residual
4.Introduction of legislation of disciplinary system for acupuncturists in various states in the United States: taking Ohio and other 11 states as examples.
Yu-Yang YANG ; Jia JIANG ; Jing REN ; Jing-Yuan LIU ; Yu-Chen FU ; Ni NI ; Bo-Yuan ZHANG
Chinese Acupuncture & Moxibustion 2022;42(8):923-926
With 12 representative states such as Ohio and Illinois as examples, the disciplinary system for acupuncturists in the United States is introduced. The disciplinary system mainly covers several aspects such as the subject of the implementation, the types of illegal acts, the form of disciplinary responsibility, and the hearing procedure. The acupuncture industry association has the responsibility of disciplinary action in most states. Corresponding disciplinary measures will be taken depending on the illegal activities of acupuncturists according to the types of illegal practice specified by each state. The hearing procedure provides procedural guarantee for the subsequent rights protection activities of acupuncturists.
Acupuncture
;
Acupuncture Therapy/methods*
;
Ohio
;
United States
5.Effect of Philadelphia Chromosome Karyotype and Allogeneic Hematopoietic Stem Cell Transplantation on Patients with Acute Lymphoblastic Leukemia.
Yang WANG ; Xiao-Man XU ; Min ZHANG ; Hui WANG
Journal of Experimental Hematology 2022;30(5):1397-1406
UNLABELLED:
AbstractObjective: To explore the effect of Philadelphia chromosome karyotype (Ph) and allogeneic hematopoietic stem cell transplantation (allo-HSCT) on the treatment of acute lymphoblastic leukemia (ALL).
METHODS:
The data of 429 patients with all from January 2012 to December 2020 were retrospectively analyzed. According to the results of cytogenetic karyotype analysis, they were divided into Ph+ group (n=64), Ph- monomeric karyotype (MK) group (n=53) and Ph- NMK group (n=312). According to the treatment plan, they were divided into allo-HSCT group (n=236) and non-allo-HSCT group (n=193). The effects of karyotype and allo-HSCT on the short-term and long-term outcomes of all patients were analyzed.
RESULTS:
Among the 429 patients, 6 (1.40%) died during induction therapy, 60 (13.99%) had no response, 363 (84.62%) achieved complete remission (CR) and 287 (66.90%) achieved minimal residual disease negative (MRD-). There was no significant difference in short-term efficacy (CR%, CR1%, MRD-%) among Ph+ group, Ph- MK group and Ph- non-MK group (P>0.05). The median OS was 6.9 months (95% CI: 4.6-8.2 months) for 60 unresponsive patients and 39.8 months (95% CI: 28.6-45.9 months) for 363 CR patients. There was no significant difference in the long-term efficacy [5-year cumulative recurrence rate (CIR%), disease-free survival rate (DFS%) and overall survival rate (OS%) among Ph- group, Ph- MK group and Ph- non-MK group (P>0.05). Among 429 patients, 55.01% (236/429) underwent allo-HSCT. The short-term efficacy (CR%, MRD-%) and long-term efficacy (CIR%, DFS%, OS%)] of patients with allo-HSCT after more than 2 consolidation cycles were better than those of patients with non-allo-HSCT (P<0.05). For the three subgroups of Ph+ group, Ph- MK group and Ph- non-MK group, the short-term and long-term efficacy of allo-HSCT patients was better than that of non-allo-HSCT patients. Multivariate logistic regression analysis showed that liver/spleen/lymph node enlargement was a risk factor for CIR, DFS and OS, with adjusted or of 1.23 (95% CI: 1.08-2.78, P=0.032), 1.21 (95% CI: 1.03-2.34, P=0.038) and 1.25 (95% CI: 1.08-2.97, P=0.028), respectively. No transplantation was a risk fator for CIR, DFS, OS. The adjusted or were 2.34 (95% CI: 1.18-5.39, P<0.001), 2.15 (95% CI: 1.10-4.34, P<0.001) and 2.28 (95% CI: 1.09-4.11, P<0.001), respectively.
CONCLUSION
Karyotype (Ph+/- and MK/non-MK) seems to have no effect on the short-term and long-term efficacy of all patients; allo-HSCT can affect the short-term and long-term efficacy of all patients and improve their prognosis; liver/spleen/lymph node enlargement and non-implementation of allo-HSCT treatment strategy are the risk factors for poor prognosis of all patients.
Acute Disease
;
Hematopoietic Stem Cell Transplantation
;
Humans
;
Karyotype
;
Philadelphia Chromosome
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy*
;
Prognosis
;
Retrospective Studies
6.Analysis of the Different Therapeutic Effects in 21 Ph
Shu-Chun WANG ; Ye GUO ; Xiao-Juan CHEN ; Xiao-Ming LIU ; Min RUAN ; Wen-Yu YANG ; Li ZHANG ; Yao ZOU ; Yu-Mei CHEN ; Xiao-Fan ZHU
Journal of Experimental Hematology 2021;29(1):38-42
OBJECTIVE:
To analyze the outcomes of the children suffered from philadelphia chromosome positive acute lymphoblastic leukemia (Ph
METHODS:
21 cases of firstly diagnosed Ph
RESULTS:
Among 21 patients, 17 were male and 4 were female with a median age of 8 years old (range, 4-12 years), the median follow-up time was 30 moths (range, 10-133 months). All the patients were treated with chemotherapy induced by the high-risk project of CCLG-ALL 2008. Among 14 patients treated with TKI plus chemotherapy, nine patients achieved complete remission. During 3 months after treatment, patients without complete molecular response or with the second complete remission and intensity desire of transplantation were treated with allo-HSCT, among 9 patients with allo-HSCT, six patients achieved long term survival.
CONCLUSION
At TKI era, TKI combined with strong chemotherapy can make Ph
Aged
;
Child
;
Female
;
Hematopoietic Stem Cell Transplantation
;
Humans
;
Infant
;
Male
;
Philadelphia Chromosome
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy*
;
Protein Kinase Inhibitors
;
Retrospective Studies
7.Biological and socioeconomic factors as moderator in relationship between leisure-time physical activity and cardiometabolic risk in adolescents from southern Brazil.
Ana Paula SEHN ; Debora TORNQUIST ; Luciana TORNQUIST ; Javier BRAZO-SAYAVERA ; Cézane Priscila REUTER
Environmental Health and Preventive Medicine 2021;26(1):90-90
BACKGROUND:
Given the important repercussions that sociodemographic factors can have on physical activity, especially in the field of leisure, and cardiometabolic risk, it seems relevant to analyze the implications of these variables on the relationship between physical activity in leisure time (LTPA) and cardiometabolic risk. In this sense, the present study aims to verify the moderating role of biologic and socioeconomic factors in the relationship between LTPA and cardiometabolic risk in adolescents in southern Brazil.
METHODS:
Cross-sectional study that included 1596 adolescents selected at random (58.2% girls), aged between 10 and 17 years. LTPA, biological and socioeconomic factors were assessed using a self-reported questionnaire and the cardiometabolic risk score (total cholesterol/HDL-c ratio, triglycerides, fasting glucose, systolic blood pressure, and waist circumference, considering the participant's age and sex) was included as an outcome. Associations and moderations were tested by multiple linear regression models.
RESULTS:
It was observed a positive interaction of LTPA and sex (p = 0.048) and LTPA and school system (p = 0.037), and negative interaction of LTPA and skin color (p = 0.040), indicating that these factors were moderators in the relationship between LTPA and clustered cardiometabolic risk score (cMetS) in adolescents. A reduction in cardiometabolic risk was observed according to the increase in weekly minutes of LTPA among boys, non-white adolescents, and students from municipal schools.
CONCLUSIONS
The association between LTPA and cardiometabolic risk was moderated by sex, skin color, and school system in adolescents from southern Brazil.
Adolescent
;
Age Factors
;
Brazil/epidemiology*
;
Cardiometabolic Risk Factors
;
Child
;
Cross-Sectional Studies
;
Effect Modifier, Epidemiologic
;
Exercise
;
Female
;
Humans
;
Leisure Activities
;
Male
;
Sex Factors
;
Skin Pigmentation
;
Socioeconomic Factors
8.The Risk Factors of Thrombosis in Patients with Philadelphia Chromosome-negative Myeloproliferative Neoplasms.
Yi-Fan ZHAO ; Shao-Ze LIN ; Xue BAI ; Xue-Yang XING ; Hong-Fang TAO ; Yong-Zhong SU
Journal of Experimental Hematology 2021;29(6):1869-1874
OBJECTIVE:
To investigate the overview of thrombosis in myeloproliferative neoplasms(MPN) patients, and to explore the risk factors of thrombosis at diagnosis and during follow-up.
METHODS:
The clinical data of 388 MPN patients treated in our hospital were collected. The patients were followed up by outpatient and phone. The risk factors of thrombosis were analyzed by statistical methods.
RESULTS:
Among 388 MPN patients, 161 patients (41.49%) showed thromboses at diagnosis or during follow-up. Among them, 92.55% were arterial thromboses, 146 cases (96.27%) were complicated with thromboses at diagnosis, and 36 cases (11.46%) showed newly thromboses or progression of previous thromboses among the 314 received full follow-up patients. Age (P<0.001, HR:1.033, 95%CI:1.016-1.051), JAK2V617F mutation (P=0.037, HR:1.72, 95%CI: 1.033-2.862), hypertension (P<0.001, HR:2.639, 95%CI:1.659-4.197) and hyperlipidemia (P<0.001, HR:2.659, 95%CI:1.626-4.347) were the independent risk factors affecting thrombosis at diagnosis of the patients. During the follow-up, age (P=0.016, HR:1.032, 95%CI: 1.006-1.059) and previous thrombosis history (P=0.019, HR:2.194, 95%CI: 1.135-4.242) were the independent risk factors affecting the progression of thrombosis at different sites or on the basis of the previous thrombosis in the patients.
CONCLUSION
Patients with advanced age, JAK2V617F mutation or complicated with hypertension and hyperlipidemia shows a higher risk of thrombosis at diagnosis, while the patients with advanced age or previous thrombosis history shows a higher risk of progression of thrombosis during the follow-up.
Humans
;
Myeloproliferative Disorders/genetics*
;
Neoplasms
;
Philadelphia Chromosome
;
Risk Factors
;
Thrombosis
9.Clinical outcome of pediatric and young adult subclinical varicoceles: a single-institution experience.
Patricia S CHO ; Richard N YU ; Harriet J PALTIEL ; Matthew A MIGLIOZZI ; Xiaoran LI ; Alyssia VENNA ; David A DIAMOND
Asian Journal of Andrology 2021;23(6):611-615
Subclinical varicocele represents an abnormality of veins of the pampiniform plexus on scrotal ultrasound (US) without a clinically palpable varicocele. Its significance remains unclear. While guidelines do not recommend surgical intervention, clinical management is variable. As there is limited information on long-term outcome of subclinical varicoceles due to challenges in diagnosis and management, we performed a single-institution, retrospective review of patients from October 1999 to October 2014 with subclinical varicocele and with available US studies reviewed by a single radiologist. Subclinical varicocele was defined as dilation of the pampiniform venous plexus on US involving ≥2 vessels with diameter >2.5 mm, without clinical varicocele on physical examination or prior inguinal surgery. Thirty-six of 98 patients identified were confirmed as having a subclinical varicocele and analyzed. The mean age at initial visit was 15.5 years, with a mean follow-up of 26.5 months. The majority were right-sided (69.4%, n = 25), usually with a contralateral clinical varicocele. Testicular asymmetry (>20% volume difference of the affected side by testicular atrophy index formula) was assessed in 9 patients with unilateral subclinical varicocele without contralateral clinical or subclinical varicocele and observed in 1 patient. Of 17 patients with follow-up, 3 (17.6%) progressed to clinical varicocele without asymmetric testicular volume, as most remained subclinical or resolved without surgery. In our experience, subclinical varicoceles appeared unlikely to progress to clinical varicoceles, to affect testicular volume, or to lead to surgery. Although our study is limited in numbers and follow-up, this information may aid clinical management strategies and guide future prospective studies.
Adolescent
;
Boston
;
Child
;
Humans
;
Male
;
Physical Examination/methods*
;
Prospective Studies
;
Retrospective Studies
;
Treatment Outcome
;
Varicocele/therapy*
;
Young Adult
10.Analysis of the development trend and severity of the COVID-19 panidemic in the global world.
Journal of Peking University(Health Sciences) 2021;53(3):536-542
OBJECTIVE:
To analyze the recent severity of COVID-19 in various countries.
METHODS:
Data were ollected on the epidemic situation of COVID-19 in various countries as of January 16, 2021, and the scale and overall trend of the epidemic were retrospectively described; combined with the recent trend of newly confirmed cases, from January 10 to 16 (the 54th week) and the newly confirmed cases indexes, such as the number and incidence density the severity of the epidemic was classified. Feasible suggestions were put forward based on the variation of the virus, actual data of vaccine research and development and possible existence in many countries.
RESULTS:
Up to January 16, 2021, there were 92 510 419 confirmed cases worldwide; 4 849 301 new confirmed cases were confirmed in the 54th week, and they were still growing. Among all the continents, the cumulative number of confirmed cases in Europe, North America, and Asia has exceeded 21 million, and the number of new confirmed cases in a single week in North America, South America and Asia were all increasing. Among the countries, the cumulative number of confirmed cases in 18 countries including the United States, India, and Brazil was more than 1 million, accounting for 77.04% of the total number of cumulative confirmed cases in the world. Eleven countries including the United States, Brazil, France, Spain, Colombia, The United Kingdom, Russia, Germany, South Africa, Italy, and India are at higher risk of the epidemic; The United States, Brazil, France, Spain, and Colombia were still experiencing new confirmed cases and increasing status, the risk of the epidemic was greater. Novel coronavirus mutates frequently, up to February 2021, there had been 3 931 mutant genotypes in the world. At the same time, a total of 11 vaccines were successfully launched, however we were still facing some troubles, such as the global shortage of vaccines, the public's willingness to vaccinate needed to be improved, and equity in the distribution of vaccines.
CONCLUSION
The global epidemic situation is still getting worse, with repeated epidemics in all the continents and countries, and has not been fundamentally controlled. At the continent level, North America, South America, and Europe have the most severe epidemics; at the national level, The United States, Brazil, France, Spain, Colombia and other countries have higher epidemic risks. Focusing on the severely affected countries will help bring the global epidemic under control as soon as possible. Under the premise of ensuring the safety and effectiveness of the vaccines, it is a key and feasible direction to improve the yield and vaccination rate of the vaccines, shorten the onset time of the vaccines and prolong the immune persistence.
Asia
;
Brazil
;
COVID-19
;
Europe
;
France
;
Humans
;
India
;
Italy
;
North America
;
Retrospective Studies
;
SARS-CoV-2
;
Spain
;
United Kingdom
;
United States

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