1.Diagnostic PICALM::MLLT10 fusion by transcriptome sequencing in acute myeloid leukemia and its clinical characteristics
Jing XIA ; Xiaohui HU ; Ye ZHAO ; Xiao MA ; Depei WU ; Suning CHEN ; Feng CHEN
Chinese Journal of Internal Medicine 2025;64(3):234-238
A retrospective analysis of clinical data of 8 patients with PICALM::MLLT10 (P/M) fusion gene-positive acute myeloid leukemia (AML) diagnosed by transcriptome sequencing (RNA-seq) at the First Affiliated Hospital of Soochow University from June 2017 to March 2023 was performed. Laboratory findings and treatment status were analyzed, and survival analysis was performed using the Kaplan-Meier method. The 8 patients included 5 males and 3 females, aged 16-35 years, with a median age of 27 years. The platelet count of patients was normal, and 3 patients had mild to moderate anemia. Extramedullary infiltration was present in all patients with clinical manifestations, including 5 patients with mediastinal masses, 2 patients with hepatosplenomegaly, 1 patient with central nervous system leukemia, and 1 patient with cervical lymph node enlargement. Karyotypical analysis revealed 7 patients with an abnormal karyotype, including 6 cases of complex karyotypes. Of these, 4 patients harbored the t(10;11) translocation. The complete remission rate of induction chemotherapy in the patients was 7/8, and 2 patients experienced early recurrence. All patients subsequently underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), The follow-up period ranged from 86 to 812 days, with a median of 330 days. Among the 8 patients, 3 survived and 5 died due to recurrence. Relapse and death only occurred in the P/M fusion gene-positive patients after transplantation. The overall survival rate at 1 year after transplantation was 37.5%. P/M +AML has the characteristics of young age at onset, normal platelet count, high incidence of extramedullary infiltration, and high proportion of complex karyotype. RNA-seq can significantly improve the detection rate of this disease type. Allo-HSCT can partially improve the prognosis of P/M +AML, and P/M positivity after transplantation can be a warning sign of recurrence, which is an important factor affecting survival.
2.Clinical characteristics and prognostic analysis of newly diagnosed acute myeloid leukemia with critical illness
Peiqi LIANG ; Meng GAO ; Yan XIE ; Bingqing LI ; Qian LI ; Ziyi LIU ; Dong WANG ; Huiying QIU ; Suning CHEN ; Depei WU ; Jianhong FU
Chinese Journal of Hematology 2025;46(1):39-44
Objective:This study retrospectively analyzed the clinical characteristics of patients newly diagnosed with acute myeloid leukemia (AML) who were admitted to the hematology intensive care unit (HCU) with critical illness. It also examined factors associated with critical illness and early mortality in these patients.Methods:Clinical data were collected from 91 newly diagnosed AML patients admitted to the HCU of the Department of Hematology, First Affiliated Hospital of Soochow University, from October 2020 to 2024. Reasons for HCU admission, major therapeutic interventions, and risk factors for critical illness and early mortality were analyzed.Results:The median time from diagnosis to HCU admission was 3 days ( IQR: 3–9 days), and the median HCU stay was 10 days ( IQR: 3–23 days). Of the 91 patients, 71 were admitted to the HCU before induction chemotherapy, while 20 were transferred to the HCU after its initiation. The leading causes of HCU admission were pulmonary infection (78.0% ), respiratory failure (44.0% ), hepatic insufficiency (28.6% ), renal insufficiency (27.5% ), disseminated intravascular coagulation (DIC; 25.3% ), and sepsis (23.1% ). Median Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE Ⅱ) and SOFA scores at HCU admission were 14 ( IQR: 11–18) and the median Sepsis Related Organ Failure Assessment (SOFA) score was 7 ( IQR: 4, 10). Major HCU interventions included vasoactive drugs, noninvasive and invasive mechanical ventilation, continuous renal replacement therapy, therapeutic leukocyte clearance, and cardiopulmonary resuscitation. Among patients receiving induction chemotherapy, the composite complete remission rate was 65.4%, and the overall remission rate was 88.5%. Thirty-five (38.5% ) patients died within 28 days of HCU admission. Independent risk factors for 28-day mortality were DIC ( OR=9.350, 95% CI 1.999–43.745, P=0.005), sepsis ( OR=6.817, 95% CI 1.571–29.582, P=0.010), and cardiac insufficiency ( OR=12.281, 95% CI 2.385–63.254, P=0.003) . Conclusion:The main reason for HCU admission in newly diagnosed critically ill AML patients was pulmonary infection. Nearly 40% of patients experisenced early death, and DIC, sepsis, and heart failure were factors influencing early mortatlity.
3.Clinical analysis of six eosinophilia cases with L?effler endocarditis as the main clinical feature
Ma Ya' NAN ; Suning CHEN ; Bingyuan ZHOU ; Xiaofei YANG
Chinese Journal of Hematology 2025;46(9):854-859
To improve the understanding of L?effler endocarditis, we retrospectively analyzed six patients with eosinophilia, predominantly characterized by L?effler endocarditis, who were treated at the First Affiliated Hospital of Soochow University from January 2019 to October 2024. Among the 6 patients, 5 were male, with a median age of 45.5 years (31–77 years). All patients demonstrated increased white blood cell count and eosinophil count in peripheral blood. Clinical symptoms and imaging examination were considered as L?effler endocarditis, and two cases were complicated by cerebral infarction. Fusion gene testing was completed in five patients, with cases 4 and 5 demonstrating FIP1L1::PDGFRA fusion gene positivity, and case 6 with TLS::ERG (+) acute myeloid leukemia. Two patients with FIP1L1::PDGFRA positivity achieved rapid remission after imatinib treatment. Case 6 experienced symptom relief after glucocorticoids and hydroxyurea treatment, followed by complete remission after chemotherapy with the cytarabine (20 mg q12 h × 14 days), idarubicin (5 mg on days 2–12 every other day), and G-CSF (adjusted based on blood counts) regimen. After 8 months, the patient underwent allogeneic hematopoietic stem cell transplantation but died 1 year post-transplantation due to disease relapse complicated by infection. The remaining three patients demonstrated improvement after glucocorticoid treatment. Except for case 6, the other patients were still alive, with case 4 relapsing at 28 months after imatinib discontinuation and relieved after treatment re-initiation.
4.Impact of donor characteristics on prognosis for myelodysplastic syndromes after haplo-identical transplantation: a retrospective study
Hong WANG ; Xueqian LI ; Qingyuan WANG ; Jiaqian QI ; Huiying QIU ; Chengcheng FU ; Xiaowen TANG ; Miao MIAO ; Ying WANG ; Suning CHEN ; Changgeng RUAN ; Depei WU ; Yue HAN
Chinese Journal of Hematology 2025;46(11):1026-1031
Objective:To evaluate the impact of donor characteristics on the prognosis of myelodysplastic syndrome (MDS) patients undergoing haplo-identical transplantation (HIDT) .Methods:A retrospective analysis of 203 MDS patients who received HIDT was conducted to evaluate how donor factors influenced transplant outcomes.Results:In MDS patients undergoing haploidentical transplantation, donors over 50 years were associated with higher EBV reactivation (2-year cumulative incidence 42.9% vs 22.0% for <50 years old; P=0.010). Female donors were linked to increased severe chronic GVHD compared with male donors (2-year incidence 11.9% vs 4.0% ; P=0.017). Additionally, 2-year overall survival (OS) was slightly lower with female donors than male donors (56.6% vs 69.7% ), but the difference was not statistically significant ( P=0.073). Donor-recipient blood type did not affect post-transplant OS or cumulative relapse rates. Donor-recipient kinship analysis revealed that child donors, compared to haploidentical sibling or parent donors, had lower rates of grade Ⅱ–Ⅳ acute GVHD (27.2% vs 45.7% vs 53.5%, P=0.007) and 2-year EBV reactivation (13.9% vs 29.3% vs 38.9%, P=0.001). For donors under 20 years, donor gender did not significantly affect 2-year OS ( P=0.913), relapse-free survival ( P=0.716), or 100-day incidence of grade Ⅱ–Ⅳ acute GVHD ( P=0.359) . Conclusion:For MDS patients undergoing HIDT, donors over 50 should be avoided. Male and child donors are preferred, while donor gender does not significantly affect outcomes if the donor is under 20 years old.
5.Clinical analysis of older patients with hematologic malignancies treated by allogeneic hematopoietic stem cell transplantation
Xin KONG ; Baoquan SONG ; Xiaowen TANG ; Shengli XUE ; Miao MIAO ; Yue HAN ; Ying WANG ; Jian ZHANG ; Suning CHEN ; Aining SUN ; Zhihong LIN ; Jun CHEN ; Feng CHEN ; Huiying QIU ; Depei WU
Chinese Journal of Geriatrics 2025;44(10):1376-1382
Objective:To investigates the efficacy and safety of allogeneic hematopoietic stem cell transplantation(allo-HSCT)in treating older patients(≥60 years old)with hematologic malignancies.Methods:We conducted a retrospective study involving 67 patients aged 60 years and above, diagnosed with malignant hematological diseases, who received allo-HSCT at the Clinical Research Centrer for Haematologic Diseases of the First Affiliated Hospital of Soochow University between June 2015 and March 2023.We collected pre-transplant data, including the patients' age, gender, pre-transplantation disease risk stratification, disease status, and the haematopoietic cell transplantation comorbidity index(HCT-CI). We retrospectively analyzed clinical data regarding treatment-related toxicity, infections, acute and chronic graft-versus-host disease(a/cGVHD), as well as recurrent and non-recurrent deaths, to estimate the overall survival(OS)rate and event-free survival (EFS)rate.Results:Sixty-seven patients were included in the study, comprising 55 males(82.1%)and 12 females(17.9%), with a median age of 63(61, 65) years .The cohort consisted of 42 cases of acute myeloid leukaemia, 22 cases of myelodysplastic syndromes, and 3 cases of acute lymphoblastic leukaemia.The Kaplan-Meier analysis showed that the 1-year OS and EFS rates were 62.9% and 59.2%, respectively, while the 2-year OS and EFS rates were 55.3% and 51.8%, respectively.The cumulative incidence of 1-year non-relapse mortality and relapse was 25.4% and 21.2%, respectively.A total of 13 patients developed grade Ⅱ-Ⅳ aGVHD, with a 1-year cumulative incidence of 22.0%, and 7 patients developed cGVHD requiring treatment.When stratified by age group, the OS rate was higher in patients aged 60~64 years compared to those aged ≥65 years; however, this difference was not statistically significant(Log-rank χ2=0.99, P=0.317). In contrast, when stratified by disease load, the OS rate was significantly higher in the complete remission(CR)group than in the non-CR group, with a statistically significant difference(Log-rank χ2=15.04, P<0.001). When stratified by donor type, the OS rate was higher in the human leukocyte antigens (HLA) allogeneic group compared to the haploinsufficiency group; however, the difference was not statistically significant(Log-rank χ2=2.71, P=0.100). Twenty-seven patients died at an average of 125 days (range 3-1 054 days) after HSCT.The causes of death included leukemia recurrence in 9 cases (33.3%), infection in 8 cases (29.6%), GVHD in 5 cases (18.5%), poor implantation in 3 cases (11.1%), multi-organ failure in 1 case (3.7%), and cerebrovascular accident in 1 case (3.7%). The results of multifactorial analysis indicated that a pre-transplant tumor load greater than 5% was an independent risk factor for OS after transplantation ( HR=4.59, 95% CI: 2.01-10.42, P<0.001)as well as for disease recurrence ( OR=13.11, 95% CI: 1.96-87.87, P=0.008). Additionally, the occurrence of infection was identified as an independent risk factor for non-recurrent death after transplantation( OR=3.95, 95% CI: 1.13 to 13.71, P=0.031). Conclusions:For patients aged 60 years or older with hematologic malignancies, HSCT can serve as a viable treatment option, particularly for those with refractory recurrence and high cytogenetic risk, as it has the potential to significantly enhance prognosis and increase both EFS and OS rates.
6.Enhancement of Microglial Phagocytosis by Scaffold Protein PDLIM5 and Its Role in Multiple Sclerosis
Hailian CHEN ; Yuge WANG ; Yu CUI ; Suning PING ; Yuan CHEN
Journal of Sun Yat-sen University(Medical Sciences) 2025;46(2):179-185
[Objective]To investigate the expression of scaffold protein PDLIM5 in multiple sclerosis(MS)patients and the mouse microglial cell line BV2,and to explore its effects on the phagocytosis of microglial cells.[Methods]Peripheral blood samples were collected from 24 MS patients and 6 healthy volunteers as controls.The expression levels of PDLIM5 were detected by real-time quantitative PCR.A neuroinflammation cell model was established by treating the mouse microglial cell line BV2 with lipopolysaccharide(LPS,1 μg/mL).The expression levels of PDLIM5 were measured by Western Blot.The effect of PDLIM5 expression on phagocytosis was analyzed by transfecting BV2 cells with PDLIM5 shRNA plasmids or PDLIM5 overexpression plasmids.[Results]Real-time quantitative PCR results showed that compared with the healthy control group,the expression level of PDLIM5 from the MS patients was significantly increased in monocytes[2.78(0.70-6.86)vs.0.54(0.39-1.51),P=0.036]and lymphocytes[1.62(0.90-2.26)vs.0.11(0.05-0.21),P<0.001].Western Blot results indicated that PDLIM5 expression was significantly upregulated in BV2 cells following LPS stimulation(P<0.05).Plasmid transfection experiments demonstrated that knockdown of PDLIM5 inhibited the phagocytic capacity of BV2 cells as measured by trypan blue uptake(P<0.05),while overexpression of PDLIM5 enhanced the phagocytic ability of BV2 cells(P<0.001).[Conclusion]Under neuroinflammatory conditions,PDLIM5 expression is elevated,and this upregulation promotes the phagocytosis of microglial cell.
7.Clinical characteristics and prognostic analysis of newly diagnosed acute myeloid leukemia with critical illness
Peiqi LIANG ; Meng GAO ; Yan XIE ; Bingqing LI ; Qian LI ; Ziyi LIU ; Dong WANG ; Huiying QIU ; Suning CHEN ; Depei WU ; Jianhong FU
Chinese Journal of Hematology 2025;46(1):39-44
Objective:This study retrospectively analyzed the clinical characteristics of patients newly diagnosed with acute myeloid leukemia (AML) who were admitted to the hematology intensive care unit (HCU) with critical illness. It also examined factors associated with critical illness and early mortality in these patients.Methods:Clinical data were collected from 91 newly diagnosed AML patients admitted to the HCU of the Department of Hematology, First Affiliated Hospital of Soochow University, from October 2020 to 2024. Reasons for HCU admission, major therapeutic interventions, and risk factors for critical illness and early mortality were analyzed.Results:The median time from diagnosis to HCU admission was 3 days ( IQR: 3–9 days), and the median HCU stay was 10 days ( IQR: 3–23 days). Of the 91 patients, 71 were admitted to the HCU before induction chemotherapy, while 20 were transferred to the HCU after its initiation. The leading causes of HCU admission were pulmonary infection (78.0% ), respiratory failure (44.0% ), hepatic insufficiency (28.6% ), renal insufficiency (27.5% ), disseminated intravascular coagulation (DIC; 25.3% ), and sepsis (23.1% ). Median Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE Ⅱ) and SOFA scores at HCU admission were 14 ( IQR: 11–18) and the median Sepsis Related Organ Failure Assessment (SOFA) score was 7 ( IQR: 4, 10). Major HCU interventions included vasoactive drugs, noninvasive and invasive mechanical ventilation, continuous renal replacement therapy, therapeutic leukocyte clearance, and cardiopulmonary resuscitation. Among patients receiving induction chemotherapy, the composite complete remission rate was 65.4%, and the overall remission rate was 88.5%. Thirty-five (38.5% ) patients died within 28 days of HCU admission. Independent risk factors for 28-day mortality were DIC ( OR=9.350, 95% CI 1.999–43.745, P=0.005), sepsis ( OR=6.817, 95% CI 1.571–29.582, P=0.010), and cardiac insufficiency ( OR=12.281, 95% CI 2.385–63.254, P=0.003) . Conclusion:The main reason for HCU admission in newly diagnosed critically ill AML patients was pulmonary infection. Nearly 40% of patients experisenced early death, and DIC, sepsis, and heart failure were factors influencing early mortatlity.
8.Clinical analysis of six eosinophilia cases with L?effler endocarditis as the main clinical feature
Ma Ya' NAN ; Suning CHEN ; Bingyuan ZHOU ; Xiaofei YANG
Chinese Journal of Hematology 2025;46(9):854-859
To improve the understanding of L?effler endocarditis, we retrospectively analyzed six patients with eosinophilia, predominantly characterized by L?effler endocarditis, who were treated at the First Affiliated Hospital of Soochow University from January 2019 to October 2024. Among the 6 patients, 5 were male, with a median age of 45.5 years (31–77 years). All patients demonstrated increased white blood cell count and eosinophil count in peripheral blood. Clinical symptoms and imaging examination were considered as L?effler endocarditis, and two cases were complicated by cerebral infarction. Fusion gene testing was completed in five patients, with cases 4 and 5 demonstrating FIP1L1::PDGFRA fusion gene positivity, and case 6 with TLS::ERG (+) acute myeloid leukemia. Two patients with FIP1L1::PDGFRA positivity achieved rapid remission after imatinib treatment. Case 6 experienced symptom relief after glucocorticoids and hydroxyurea treatment, followed by complete remission after chemotherapy with the cytarabine (20 mg q12 h × 14 days), idarubicin (5 mg on days 2–12 every other day), and G-CSF (adjusted based on blood counts) regimen. After 8 months, the patient underwent allogeneic hematopoietic stem cell transplantation but died 1 year post-transplantation due to disease relapse complicated by infection. The remaining three patients demonstrated improvement after glucocorticoid treatment. Except for case 6, the other patients were still alive, with case 4 relapsing at 28 months after imatinib discontinuation and relieved after treatment re-initiation.
9.Impact of donor characteristics on prognosis for myelodysplastic syndromes after haplo-identical transplantation: a retrospective study
Hong WANG ; Xueqian LI ; Qingyuan WANG ; Jiaqian QI ; Huiying QIU ; Chengcheng FU ; Xiaowen TANG ; Miao MIAO ; Ying WANG ; Suning CHEN ; Changgeng RUAN ; Depei WU ; Yue HAN
Chinese Journal of Hematology 2025;46(11):1026-1031
Objective:To evaluate the impact of donor characteristics on the prognosis of myelodysplastic syndrome (MDS) patients undergoing haplo-identical transplantation (HIDT) .Methods:A retrospective analysis of 203 MDS patients who received HIDT was conducted to evaluate how donor factors influenced transplant outcomes.Results:In MDS patients undergoing haploidentical transplantation, donors over 50 years were associated with higher EBV reactivation (2-year cumulative incidence 42.9% vs 22.0% for <50 years old; P=0.010). Female donors were linked to increased severe chronic GVHD compared with male donors (2-year incidence 11.9% vs 4.0% ; P=0.017). Additionally, 2-year overall survival (OS) was slightly lower with female donors than male donors (56.6% vs 69.7% ), but the difference was not statistically significant ( P=0.073). Donor-recipient blood type did not affect post-transplant OS or cumulative relapse rates. Donor-recipient kinship analysis revealed that child donors, compared to haploidentical sibling or parent donors, had lower rates of grade Ⅱ–Ⅳ acute GVHD (27.2% vs 45.7% vs 53.5%, P=0.007) and 2-year EBV reactivation (13.9% vs 29.3% vs 38.9%, P=0.001). For donors under 20 years, donor gender did not significantly affect 2-year OS ( P=0.913), relapse-free survival ( P=0.716), or 100-day incidence of grade Ⅱ–Ⅳ acute GVHD ( P=0.359) . Conclusion:For MDS patients undergoing HIDT, donors over 50 should be avoided. Male and child donors are preferred, while donor gender does not significantly affect outcomes if the donor is under 20 years old.
10.Clinical analysis of older patients with hematologic malignancies treated by allogeneic hematopoietic stem cell transplantation
Xin KONG ; Baoquan SONG ; Xiaowen TANG ; Shengli XUE ; Miao MIAO ; Yue HAN ; Ying WANG ; Jian ZHANG ; Suning CHEN ; Aining SUN ; Zhihong LIN ; Jun CHEN ; Feng CHEN ; Huiying QIU ; Depei WU
Chinese Journal of Geriatrics 2025;44(10):1376-1382
Objective:To investigates the efficacy and safety of allogeneic hematopoietic stem cell transplantation(allo-HSCT)in treating older patients(≥60 years old)with hematologic malignancies.Methods:We conducted a retrospective study involving 67 patients aged 60 years and above, diagnosed with malignant hematological diseases, who received allo-HSCT at the Clinical Research Centrer for Haematologic Diseases of the First Affiliated Hospital of Soochow University between June 2015 and March 2023.We collected pre-transplant data, including the patients' age, gender, pre-transplantation disease risk stratification, disease status, and the haematopoietic cell transplantation comorbidity index(HCT-CI). We retrospectively analyzed clinical data regarding treatment-related toxicity, infections, acute and chronic graft-versus-host disease(a/cGVHD), as well as recurrent and non-recurrent deaths, to estimate the overall survival(OS)rate and event-free survival (EFS)rate.Results:Sixty-seven patients were included in the study, comprising 55 males(82.1%)and 12 females(17.9%), with a median age of 63(61, 65) years .The cohort consisted of 42 cases of acute myeloid leukaemia, 22 cases of myelodysplastic syndromes, and 3 cases of acute lymphoblastic leukaemia.The Kaplan-Meier analysis showed that the 1-year OS and EFS rates were 62.9% and 59.2%, respectively, while the 2-year OS and EFS rates were 55.3% and 51.8%, respectively.The cumulative incidence of 1-year non-relapse mortality and relapse was 25.4% and 21.2%, respectively.A total of 13 patients developed grade Ⅱ-Ⅳ aGVHD, with a 1-year cumulative incidence of 22.0%, and 7 patients developed cGVHD requiring treatment.When stratified by age group, the OS rate was higher in patients aged 60~64 years compared to those aged ≥65 years; however, this difference was not statistically significant(Log-rank χ2=0.99, P=0.317). In contrast, when stratified by disease load, the OS rate was significantly higher in the complete remission(CR)group than in the non-CR group, with a statistically significant difference(Log-rank χ2=15.04, P<0.001). When stratified by donor type, the OS rate was higher in the human leukocyte antigens (HLA) allogeneic group compared to the haploinsufficiency group; however, the difference was not statistically significant(Log-rank χ2=2.71, P=0.100). Twenty-seven patients died at an average of 125 days (range 3-1 054 days) after HSCT.The causes of death included leukemia recurrence in 9 cases (33.3%), infection in 8 cases (29.6%), GVHD in 5 cases (18.5%), poor implantation in 3 cases (11.1%), multi-organ failure in 1 case (3.7%), and cerebrovascular accident in 1 case (3.7%). The results of multifactorial analysis indicated that a pre-transplant tumor load greater than 5% was an independent risk factor for OS after transplantation ( HR=4.59, 95% CI: 2.01-10.42, P<0.001)as well as for disease recurrence ( OR=13.11, 95% CI: 1.96-87.87, P=0.008). Additionally, the occurrence of infection was identified as an independent risk factor for non-recurrent death after transplantation( OR=3.95, 95% CI: 1.13 to 13.71, P=0.031). Conclusions:For patients aged 60 years or older with hematologic malignancies, HSCT can serve as a viable treatment option, particularly for those with refractory recurrence and high cytogenetic risk, as it has the potential to significantly enhance prognosis and increase both EFS and OS rates.

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