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miR-103-3p regulates the differentiation of bone marrow mesenchymal stem cells in myelodysplastic syndrome

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BIOCELL 2023年第1期47卷 133-141页

作者： NINGYU LI XIAOFANG CHEN SUXIA GENG PEILONG LAI LISI HUANG MINMING LI XIN HUANG CHENGXIN DENG YULIAN WANG JIANYU WENG XIN DU School of Medicine South China University of TechnologyGuangzhou510006China Department of Hematology Guangdong Provincial People’s HospitalGuangdong Academy of Medical SciencesGuangzhou510080China Department of Hematology Guangzhou First People’s HospitalSchool of MedicineSouth China University of TechnologyGuangzhou510180China

The pathogenesis of myelodysplastic syndrome(MDS)may be related to the abnormal expression of microRNAs(miRNAs),which could influence the differentiation capacity of mesenchymal stem cells(MSCs)towards adipogenic and osteogenic *** this study,exosomes from bone marrow plasma were successfully extracted and *** of miR-103-3p expression in exosomes isolated from BM in 34 MDS patients and 10 controls revealed its 0.52-fold downregulation in patients with MDS compared with controls(NOR)and was downregulated 0.55-fold in MDS-MSCs compared with *** of MDS-MSCs with the miR-103-3p mimic improved osteogenic differentiation and decreased adipogenic differentiation in vitro,while inhibition of miR-103-3p showed the opposite results in ***,the expression of miR-103-3p decreases in MDS BM plasma and MDS-MSCs,significantly impacting MDS-MSCs *** miR-103-3p mimics may boost MDS-MSCs osteogenic differentiation while weakening lipid differentiation,thereby providing possible target for the treatment of MDS pathogenesis.

关键词： myelodysplastic syndrome Mesenchymal stem cells miR-103-3p Osteogenic differentiation Adipogenic differentiation

Successful treatment in one myelodysplastic syndrome patient with primary thrombocytopenia and secondary deep vein thrombosis:A case report

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World Journal of Clinical Cases 2022年第14期10卷 4640-4647页

作者： Wen-Bin Liu Jian-Xiong Ma Hong-Xuan Tong Department of Hematology The First Affiliated Hospital of Zhejiang Chinese Medical UniversityHangzhou 310006Zhejiang ProvinceChina The Second Clinical Medical College Zhejiang Chinese Medical UniversityHangzhou 320000Zhejiang ProvinceChina Institute of Basic Theory for Chinese Medicine China Academy of Chinese Medical SciencesBeijing 100700China

BACKGROUND The contradictory process of coagulation and anticoagulation maintains normal physiological function,and platelets(PLTs)play a key role in hemostasis and *** severe thrombocytopenia and deep vein thrombosis(DVT)occur simultaneously,the physician will be confronted with a great challenge,especially when interventional thrombectomy *** SUMMARY We describe a 52-year-old woman who suffered from myelodysplastic syndrome with severe thrombocytopenia and protein S deficiency with right lower extremity *** this patient,the treatment of DVT was associated with numerous contradictions due to severe thrombocytopenia,especially when interventional thrombectomy was not ***,fondaparinux sodium effectively alleviated the thrombus status of the patient and gradually decreased the D-dimer *** addition,no increase in bleeding was *** application of eltrombopag stimulated the maturation and differentiation of megakaryocytes and increased the peripheral blood PLT *** clinical symptoms of DVT in the right lower extremities in this patient significantly *** patient resumed daily life activities,and the treatment effects were independent of PLT *** This is a contradictory and complex case,and fondaparinux sodium and eltrombopag may represent a good choice for the treatment of DVT in patients with severe thrombocytopenia.

关键词： Thrombocytopenia Deep vein thrombosis Fondaparinux sodium Thrombophilia myelodysplastic syndrome Eltrombopag Case report

Del(5q) and inv(3) in myelodysplastic syndrome: A rare case report

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World Journal of Clinical Cases 2022年第11期10卷 3601-3608页

作者： Hai-Ping Liang Xing-Chun Luo Ya-Li Zhang Bei Liu The First Clinical Medical College Lanzhou UniversityLanzhou 730000Gansu ProvinceChina Department of Hematology The First Affiliated HospitalLanzhou UniversityLanzhou 730000Gansu ProvinceChina

BACKGROUND Del(5q)is the most common molecular event in myelodysplastic syndrome(MDS),accounting for 10%-15%of ***(3)is an adverse cytogenetic abnormality observed in less than 1%of MDS *** studies have reported the coexistence of del(5q)and inv(3)in ***,the pathological mechanism,treatment strategy and prognosis of this subtype need to be *** SUMMARY A 66-year-old woman was admitted to the hospital due to chest tightness and shortness of *** clinical assessments with laboratory examinations,the patient was diagnosed with MDS containing both del(5q)and inv(3).Considering the deletion of chromosome 5q,we first treated the patient with *** drug resistance arose,we tried azacitidine,and the patient had a short ***,the patient refused treatment with haematopoietic stem cell transplantation and died of severe infection four months *** MDS patients with del(5)and inv(3)have a poor *** may achieve short-term remission for such patients.

关键词： myelodysplastic syndrome Del(5q) Inv(3) Lenalidomide Azacitidine Case report

Platelet Doubling After First Decitabine Cycle Predicts Response and Survival of myelodysplastic syndrome Patients

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Current Medical Science 2022年第1期42卷 77-84页

作者： Ping-fan LU Li-nan DENG Fan-kai MENG Ying WANG Min XIAO Deng-ju LI Department of Hematology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:Although the effect of decitabine on myelodysplastic syndrome(MDS)has been demonstrated,merely a proportion of patients respond to therapy,and no well-recognized predictors have been *** study was conducted to investigate the effectiveness of decitabine in real-world clinical practice,and determine the predictive factors of response and overall survival(OS)in MDS patients.

关键词： platelet doubling decitabine response survival myelodysplastic syndrome

Tuberculosis-induced aplastic crisis and atypical lymphocyte expansion in advanced myelodysplastic syndrome:A case report and review of literature

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World Journal of Clinical Cases 2023年第19期11卷 4713-4722页

作者： Xiao-Yun Sun Xiao-Dong Yang Jia Xu Nuan-Nuan Xiu Bo Ju Xi-Chen Zhao Department of Hematology The Central Hospital of Qingdao West Coast New AreaQingdao 266555Shandong ProvinceChina

BACKGROUND myelodysplastic syndrome(MDS)is caused by malignant proliferation and ineffective *** somatic mutations and increased apoptosis,necroptosis and pyroptosis lead to the accumulation of earlier hematopoietic progenitors and impaired productivity of mature blood *** increased percentage of myeloblasts and the presence of unfavorable somatic mutations are signs of leukemic hematopoiesis and indicators of entrance into an advanced *** marrow cellularity and myeloblasts usually increase with disease ***,aplastic crisis occasionally occurs in advanced *** SUMMARY A 72-year-old male patient was definitively diagnosed with MDS with excess blasts-1(MDS-EB-1)based on an increase in the percentages of myeloblasts and cluster of differentiation(CD)34+hematopoietic progenitors and the identification of myeloid neoplasm-associated somatic mutations in bone marrow *** patient was treated with hypomethylation therapy and was able to maintain a steady disease state for 2 *** the treatment process,the advanced MDS patient experienced an episode of progressive pancytopenia and bone marrow *** the aplastic crisis,the bone marrow was infiltrated with sparsely distributed atypical ***,the leukemic cells *** analysis revealed that the atypical lymphocytes expressed a high frequency of CD3,CD5,CD8,CD16,CD56 and CD57,suggesting the activation of autoimmune cytotoxic T-lymphocytes and natural killer(NK)/NKT cells that suppressed both normal and leukemic *** serum levels of inflammatory cytokines,including interleukin(IL)-6,interferon-gamma(IFN-γ)and tumor necrosis factor-alpha(TNF-α),confirmed the deranged type I immune *** morphological and immunological signature led to the diagnosis of severe aplastic anemia secondary to large granule lymphocyte *** tuberculosis was suspected upon radiological examinations in the s

关键词： myelodysplastic syndrome Aplastic crisis Atypical lymphocyte Leukemic cell regression CD56+lymphocyte expansion Disseminated tuberculosis Case report

Flared inflammatory episode transforms advanced myelodysplastic syndrome into aplastic pancytopenia:A case report and literature review

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World Journal of Clinical Cases 2023年第17期11卷 4105-4116页

作者： Bo Ju Nuan-Nuan Xiu Jia Xu Xiao-Dong Yang Xiao-Yun Sun Xi-Chen Zhao Department of Hematology The Central Hospital of Qingdao West Coast New AreaQingdao 266555Shandong ProvinceChina

BACKGROUND myelodysplastic syndrome(MDS)is a hematological neoplasm,and an increase in myeloblasts is representative of leukemic hematopoiesis in advanced *** MDS usually exhibits deranged autoimmunity resembling that of aplastic anemia(AA),whereas advanced MDS is characterized by a phenotype of immune *** can be normo/hyperplastic or ***,bone marrow cellularity and myeloblasts increase with disease *** from advanced MDS to AA-like syndrome with leukemic cell regression has not previously been *** SUMMARY A middle-aged Chinese woman had a 4-year history of *** months prior to admission,the patient developed gradually worsening fatigue and performance *** leukocytopenia further *** was diagnosed with MDS with excess blasts-2 based on increased bone marrow cellularity and an increased percentage of myeloblasts on marrow and blood smears,an increased percentage of cluster of differentiation(CD)34+CD33+progenitors in immunotyping analysis,a normal karyotype in cytogenetic analysis,and the identification of somatic mutations in CBL,KMT2D and NF1 in molecular ***,neutropenia was the predominant hematological abnormality,with mild anemia and thrombocytosis,and the degree of fatigue was far more severe than the degree of *** the following months,the patient experienced several febrile *** antibiotic treatments were able to control the febrile episodes,but the elevated inflammatory indices *** hematological parameters dramatically fluctuated with the waxing and waning of the inflammatory *** recurrent flares of the inflammatory condition,agranulocytosis and severe anemia developed,with mild *** the patient’s hospitalization,computed tomography(CT)scans revealed the presence of extensive inflammatory lesions involving the lungs,mediastinum,pleura,gastrointestinal tract,peritoneum and urinary tract,

关键词： myelodysplastic syndrome Aplastic anemia Inflammatory stress Leukemic cell regression Antileukemic Case report

Neutrophilic Panniculitis Associated With myelodysplastic syndrome/Myeloproliferative Neoplasm:A Case Report and Literature Review

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International Journal of Dermatology and Venereology 2023年第3期6卷 168-171页

作者： Alexa J.Cohen Laura K.Gleason Safiyyah A.Bhatti Neda Nikbakht Department of Dermatology and Cutaneous Biology Thomas Jefferson UniversityPhiladelphiaPA 19107USA Department of Hematology&Oncology Thomas Jefferson UniversityPhiladelphiaPA 19107USA

Introduction:Neutrophilic panniculitis(NP)is a rare subtype of neutrophilic dermatosis,a group of neutrophilrich inflammatory skin disorders that can present in association with myeloid *** is defined by the presence of a neutrophilic infiltrate in the fat lobules of the subcutis in the absence of either infection or *** herein describe a 65-year-old woman with a recent diagnosis of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndrome(MDS/MPN)who abruptly developed painful,pruritic nodules consistent with *** presentation:A 65-year-old woman with MDS/MPN presented for evaluation of painful and pruritic nodules on her upper and lower extremities.A biopsy revealed a lobular neutrophilic infiltrate in the subcutis without evidence of microorganisms or *** patient was diagnosed with NP and treated with oral *** 1 month of treatment,she reported complete resolution of the ***:Similar to other neutrophilic dermatoses,NP may arise in association with hematologic malignancies of myeloid origin,such as MDS/MPN.A literature review revealed that most cases of NP associated with MDS occur after the onset of MDS and respond to systemic corticosteroids,not *** should be ruled out before initiating treatment with systemic ***:Although the mechanism is still unknown,it is important for clinicians to be aware that NP is associated with MDS;thus,hematological malignancies should be investigated on diagnosis of *** diagnosed,NP is easily treated and has an excellent response to systemic corticosteroids.

关键词： neutrophilic panniculitis myelodysplastic syndrome neutrophilic dermatoses

De novo myelodysplastic syndrome in a Rothmund-Thomson syndrome patient with novel pathogenic RECQL4 variants

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Blood Science 2023年第2期5卷 125-130页

作者： Chuanhe Jiang Hao Zhang Chuxian Zhao Luxiang Wang Xiaoxia Hu Zengkai Pan National Research Center for Translational Medicine State Key Laboratory of Medical GenomicsShanghai Institute of HematologyRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Shanghai Zhaxin Traditional Chinese&Western Medicine Hospital Shanghai 200435China Collaborative Innovation Center of Hematology Shanghai Jiao Tong University School of MedicineShanghai 200025China

Rothmund-Thomson syndrome(RTS)is a rare autosomal-recessive disorder with clinical features consisting of rash,poikiloderma,sparse hair,short stature,juvenile cataracts,skeletal abnormalities,and cancer *** studies involving detection of pathogenic RECQL4 variants provide the diagnostic *** was found in two-thirds RECQL4-mutated RTS patients,while hematological malignancies were rarely *** variant diversity of RECQL4 gene has not been fully identified and mutations associated with hematologic malignancies are not well *** this study,we presented a pedigree of RTS from a Chinese family,among which the proband was diagnosed with de novo myelodysplastic syndrome(MDS).Comprehensive medical examination and chromosome karyotyping were performed on the *** exome sequencing(WES)was performed on the proband,his sister and his *** familial cosegregation of sequence variants derived from WES was conducted by polymerase chain reaction–based Sanger *** of candidate RECQL4 mutants were done by in silico analysis to assess *** novel RECQL4 germline variants,including c.T274C,c.G3014A,and c.G801C,were identified by WES and validated by Sanger *** of conformation indicated that the structural stability of human RECQL4 protein was largely affected with these *** co-occurring U2AF1 p.S34F and TP53 p.Y220C mutations might contribute to the development of *** study expands the mutational spectrum of RECQL4 and provides underlying molecular mechanism for the development of MDS in RTS patients.

关键词： myelodysplastic syndrome Pedigree RECQL4 Rothmund-Thomson syndrome Whole Exome Sequencing

Evaluation of new IPSS-Molecular model and comparison of different prognostic systems in patients with myelodysplastic syndrome

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Blood Science 2023年第3期5卷 187-195页

作者： Jiale Ma Yan Gu Yanhui Wei Xuee Wang Peixuan Wang Chunhua Song Zheng Ge Department of Hematology Zhongda HospitalSchool of MedicineSoutheast UniversityInstitute of Hematology Southeast UniversityNanjing 210009China Department of Hematology Xuzhou Central HospitalXuzhou 221009China Hershey Medical Center Pennsylvania State University Medical CollegeHersheyPAUSA Division of Hematology The Ohio State University Wexner Medical Centerthe James Cancer HospitalColumbusOHUSA

A risk-adapted treatment strategy is of crucial importance in patients with myelodysplastic syndromes(MDS).Previous risk prognostic scoring systems did not integrate molecular *** new IPSS-Molecular(IPSS-M)model,combing genomic profiling with hematologic and cytogenetic parameters,was recently developed to evaluate the associations with leukemia-free survival(LFS),leukemic transformation,and overall survival(OS).However,it has not yet been widely validated in *** study aims to further validate the prognostic power of IPSS-M based on real-world data and to compare the prognostic value of different scoring systems in patients with ***-M Web calculator was used to calculate a tailored IPSS-M score of the enrolled patient(N=255),and the risk category was defined *** next compared the IPSS-M prognostic power to that of IPSS,IPSS-R,and *** found that IPSS-M risk classification was statistically significant for 3-year OS and *** with other tools,IPSS-M was superior in sensitivity and accuracy for 3-year OS and *** mapping C-index between IPSS-R and IPSS-M categories resulted in improved discrimination across the OS,but not LFS and leukemic *** result of different treatment options indicated that allogeneic hematopoietic stem cell transplantation(allo-HSCT)can result in a better OS than those without *** conclusion,IPSS-M was a valuable tool for risk stratification compared with other risk prognostic scoring ***,more studies should be conducted to explore the appropriate treatment options for different groups stratified by IPSS-M.

关键词： IPSS-Molecular myelodysplastic syndrome prognostic models