BACKGROUND The mixed lineage leukemia(MLL)-eleven-nineteen lysine-rich leukemia(ELL)fusion gene is a rare occurrence among the various MLL fusion genes.We present the first case in which myeloid sarcoma(MS)was the onl...BACKGROUND The mixed lineage leukemia(MLL)-eleven-nineteen lysine-rich leukemia(ELL)fusion gene is a rare occurrence among the various MLL fusion genes.We present the first case in which myeloid sarcoma(MS)was the only manifestation of adult MLL-ELL-positive acute myeloid leukemia(AML).CASE SUMMARY We report a case of a 33-year-old male patient who was admitted in June 2022 with a right occipital area mass measuring approximately 7 cm×8 cm.Blood work was normal.The patient underwent right occipital giant subscalp mass excision and incisional flap grafting.Immunohistochemistry was positive for myeloperoxidase,CD43 and CD45 and negative for CD3,CD20,CD34,and CD56.The bone marrow aspirate showed hypercellularity with 20%myeloblasts.Flow cytometry showed that myeloblasts accounted for 27.21%of the nucleated cells,which expressed CD33,CD38,and CD117.The karyotype was 46,XY,t(11,19)(q23;p13.1),-12,+mar/46,XY.Next-generation sequencing showed a fusion of MLL exon 7 to exon 2 of ELL.A diagnosis of MLL-ELL-positive AML(M2 subtype)with subcutaneous MS was made.CONCLUSION MLL-ELL-positive AML with MS is a rare clinical entity.Additional research is needed to elucidate the molecular mechanisms of the pathogenesis of MS.展开更多
Primary pulmonary leiomyosarcoma （LMS） is a very unusual tumor.Although LMS has well-known metastatic potential,cutaneous metastasis is a remarkably uncommon.Exposure to cytotoxic agents could lead to ＂therapy-rela...Primary pulmonary leiomyosarcoma （LMS） is a very unusual tumor.Although LMS has well-known metastatic potential,cutaneous metastasis is a remarkably uncommon.Exposure to cytotoxic agents could lead to ＂therapy-related myeloid neoplasm＂ （t-MN）.Starting from 2008,the World Health Organization （WHO） has adopted the term to cover the spectrum of malignant diseases previously known as therapy-related acute myeloid leukemia （t-AML）,therapy-related myelodysplastic syndrome （t-MDS） and therapy-related myelodysplastic/myelo-proliferative neoplasm （t-MDS/MPN）.We described the onset of t-MDS and progression to t-AML in one case diagnosed as primary pulmonary LMS with cutaneous metastasis.This patient achieved complete remission （CR） after three courses of IA regimen chemotherapy （idarubicin 5 mg/d,d 1-3;cytarabine 100 mg/d,d 1-5） and 1 course of HA chemotherapy regimen （homoharringtonine 3 mg/d,d 1-3;cytarabine 100 mg/d,d 1-7）.This case presents the natural course of therapy-related neoplasm and provides therapeutic experience for t-AML.展开更多
Acute myeloid leukemia （AML） M4Eo type is a hematological malignancy with abnormal eosinophilia, which is often accompanied by inv（16）. The Ets variant gene 6 （ETV6）, mapped to 12p13, is an ETS family transcript...Acute myeloid leukemia （AML） M4Eo type is a hematological malignancy with abnormal eosinophilia, which is often accompanied by inv（16）. The Ets variant gene 6 （ETV6）, mapped to 12p13, is an ETS family transcription factor that is essential for hematopoietic processes,l The ETV6 gene-involved chromosomal translocations have been found in many hematological malignancies characterized by fusing to a number of different partner genes; mainly coding for tyrosine kinases or transcription factors which are important for the initiation, progress and prognosis of disease.2 In particular, the ETV6 gene has been reported to be fused to ABL in acute lymphocytic leukemias （ALL）,3 and chronic myeloid leukemia （CML）.4 However, there have been few domestic reports of ETV6 fusion genes, especially in cases of acute leukemia. We investigated 3 cases of AML-M4Eo patients using Split-signal Fluorescence in situ hybridization （FISH） and found one case with a translocation between 12p13 and lq25 co-occurring with an inv（16）. The ETV6/ARG （ABL-related gene） fusion transcript was confirmed by reverse transcriptase-polymerase （RT-PCR）. This is the report of ARG chain reaction involvement in a translocation in a human malignancy.展开更多
目的:分析急性髓系白血病(AML)跨系抗原表达的临床特征及其预后意义,以便对此类患者进行预后分层,为建立个体化的治疗提供指导。方法:用流式细胞术对227例初发AML患者(M3除外)进行免疫分型,以CD7^-CD56^-CD19^-的AML为对照,比较CD7^+组...目的:分析急性髓系白血病(AML)跨系抗原表达的临床特征及其预后意义,以便对此类患者进行预后分层,为建立个体化的治疗提供指导。方法:用流式细胞术对227例初发AML患者(M3除外)进行免疫分型,以CD7^-CD56^-CD19^-的AML为对照,比较CD7^+组、CD56^+组、CD19^+组及对照组间的临床特征、治疗反应和生存情况。结果:CD56^+AML、CD7^+AML和CD19^+AML检出率分别为15.9%、25.1%和11.0%。3个组的发病年龄,原始细胞比例,白细胞计数,血红蛋白含量,血小板计数,MDS继发的AML分布与对照组无统计学差异。CD56^+AML首次化疗后完全缓解(CR)率和累积CR率均低于对照组(20.0%vs 58.1%,P=0.0099;73.3%vs 87.5%,P=0.04),取得CR的中位时间长于对照组(118 d vs 46 d,P=0.04),无进展生存期(PFS)和总体生存期(OS)低于对照组(245 d vs 580 d,P=0.037;494 dvs 809 d,P=0.04)。CD19^+AML首次化疗后CR率、累积CR率均高于对照组(75.0%vs 58.1%,P=0.46;100%vs 87.5%,P=0.02),取得CR的中位时间明显少于对照组(28 d vs 46 d,P=0.02),PFS及OS较对照组有延长趋势(P=0.13;P=0.07),至末次随访中位PFS及OS尚未达到。CD7^+AML首次化疗后CR率、累积CR率、取得CR中位时间与对照组比较均未取得统计学差异(53.1%vs 58.1%,P=0.67;87.1%vs 87.5%,P=0.44;50 d vs 46 d,P=0.44),PFS和OS与对照组比也无差异。结论:CD56^+AML患者治疗反应差,诱导缓解后易复发,总体生存期短,应在治疗之初选择更强的化疗方案或联合多种治疗手段,并缩短该类患者的MRD检测周期,以期早期发现残留白血病细胞并早期干预。CD19^+AML患者治疗反应好,不易复发,总体生存期长,对此类患者应避免过度治疗。异常表达CD7抗原不是AML预后不良因素。展开更多
基金Supported by Scientific Research Project of Anhui Provincial Health Commission,No.AHWJ2021b005.
文摘BACKGROUND The mixed lineage leukemia(MLL)-eleven-nineteen lysine-rich leukemia(ELL)fusion gene is a rare occurrence among the various MLL fusion genes.We present the first case in which myeloid sarcoma(MS)was the only manifestation of adult MLL-ELL-positive acute myeloid leukemia(AML).CASE SUMMARY We report a case of a 33-year-old male patient who was admitted in June 2022 with a right occipital area mass measuring approximately 7 cm×8 cm.Blood work was normal.The patient underwent right occipital giant subscalp mass excision and incisional flap grafting.Immunohistochemistry was positive for myeloperoxidase,CD43 and CD45 and negative for CD3,CD20,CD34,and CD56.The bone marrow aspirate showed hypercellularity with 20%myeloblasts.Flow cytometry showed that myeloblasts accounted for 27.21%of the nucleated cells,which expressed CD33,CD38,and CD117.The karyotype was 46,XY,t(11,19)(q23;p13.1),-12,+mar/46,XY.Next-generation sequencing showed a fusion of MLL exon 7 to exon 2 of ELL.A diagnosis of MLL-ELL-positive AML(M2 subtype)with subcutaneous MS was made.CONCLUSION MLL-ELL-positive AML with MS is a rare clinical entity.Additional research is needed to elucidate the molecular mechanisms of the pathogenesis of MS.
文摘Primary pulmonary leiomyosarcoma （LMS） is a very unusual tumor.Although LMS has well-known metastatic potential,cutaneous metastasis is a remarkably uncommon.Exposure to cytotoxic agents could lead to ＂therapy-related myeloid neoplasm＂ （t-MN）.Starting from 2008,the World Health Organization （WHO） has adopted the term to cover the spectrum of malignant diseases previously known as therapy-related acute myeloid leukemia （t-AML）,therapy-related myelodysplastic syndrome （t-MDS） and therapy-related myelodysplastic/myelo-proliferative neoplasm （t-MDS/MPN）.We described the onset of t-MDS and progression to t-AML in one case diagnosed as primary pulmonary LMS with cutaneous metastasis.This patient achieved complete remission （CR） after three courses of IA regimen chemotherapy （idarubicin 5 mg/d,d 1-3;cytarabine 100 mg/d,d 1-5） and 1 course of HA chemotherapy regimen （homoharringtonine 3 mg/d,d 1-3;cytarabine 100 mg/d,d 1-7）.This case presents the natural course of therapy-related neoplasm and provides therapeutic experience for t-AML.
文摘Acute myeloid leukemia （AML） M4Eo type is a hematological malignancy with abnormal eosinophilia, which is often accompanied by inv（16）. The Ets variant gene 6 （ETV6）, mapped to 12p13, is an ETS family transcription factor that is essential for hematopoietic processes,l The ETV6 gene-involved chromosomal translocations have been found in many hematological malignancies characterized by fusing to a number of different partner genes; mainly coding for tyrosine kinases or transcription factors which are important for the initiation, progress and prognosis of disease.2 In particular, the ETV6 gene has been reported to be fused to ABL in acute lymphocytic leukemias （ALL）,3 and chronic myeloid leukemia （CML）.4 However, there have been few domestic reports of ETV6 fusion genes, especially in cases of acute leukemia. We investigated 3 cases of AML-M4Eo patients using Split-signal Fluorescence in situ hybridization （FISH） and found one case with a translocation between 12p13 and lq25 co-occurring with an inv（16）. The ETV6/ARG （ABL-related gene） fusion transcript was confirmed by reverse transcriptase-polymerase （RT-PCR）. This is the report of ARG chain reaction involvement in a translocation in a human malignancy.
文摘目的:分析急性髓系白血病(AML)跨系抗原表达的临床特征及其预后意义,以便对此类患者进行预后分层,为建立个体化的治疗提供指导。方法:用流式细胞术对227例初发AML患者(M3除外)进行免疫分型,以CD7^-CD56^-CD19^-的AML为对照,比较CD7^+组、CD56^+组、CD19^+组及对照组间的临床特征、治疗反应和生存情况。结果:CD56^+AML、CD7^+AML和CD19^+AML检出率分别为15.9%、25.1%和11.0%。3个组的发病年龄,原始细胞比例,白细胞计数,血红蛋白含量,血小板计数,MDS继发的AML分布与对照组无统计学差异。CD56^+AML首次化疗后完全缓解(CR)率和累积CR率均低于对照组(20.0%vs 58.1%,P=0.0099;73.3%vs 87.5%,P=0.04),取得CR的中位时间长于对照组(118 d vs 46 d,P=0.04),无进展生存期(PFS)和总体生存期(OS)低于对照组(245 d vs 580 d,P=0.037;494 dvs 809 d,P=0.04)。CD19^+AML首次化疗后CR率、累积CR率均高于对照组(75.0%vs 58.1%,P=0.46;100%vs 87.5%,P=0.02),取得CR的中位时间明显少于对照组(28 d vs 46 d,P=0.02),PFS及OS较对照组有延长趋势(P=0.13;P=0.07),至末次随访中位PFS及OS尚未达到。CD7^+AML首次化疗后CR率、累积CR率、取得CR中位时间与对照组比较均未取得统计学差异(53.1%vs 58.1%,P=0.67;87.1%vs 87.5%,P=0.44;50 d vs 46 d,P=0.44),PFS和OS与对照组比也无差异。结论:CD56^+AML患者治疗反应差,诱导缓解后易复发,总体生存期短,应在治疗之初选择更强的化疗方案或联合多种治疗手段,并缩短该类患者的MRD检测周期,以期早期发现残留白血病细胞并早期干预。CD19^+AML患者治疗反应好,不易复发,总体生存期长,对此类患者应避免过度治疗。异常表达CD7抗原不是AML预后不良因素。
