Myeloid sarcoma(MS)is a rare neoplasm characterized by the proliferation of immature myeloid precursor cells outside the bone marrow.The pathogenesis of MS is complex and not completely understood.Moreover,it develops...Myeloid sarcoma(MS)is a rare neoplasm characterized by the proliferation of immature myeloid precursor cells outside the bone marrow.The pathogenesis of MS is complex and not completely understood.Moreover,it develops in any extramedullary site of the body.In this editorial,we discuss the article published by Li et al,which presents a clinical case involving a 32-year-old man who exhibited gingival inflammation in the maxillary region.It was initially diagnosed as periodontal disease.However,clinical evaluation revealed a firm,grayishwhite mass which underscored the need for comprehensive diagnostics to distinguish MS from other oral conditions.This article emphasizes the different clinical presentations of similar case studies in the literature,and highlights the difficulty in diagnosing oral MS due to its rarity and variability in clinical manifestation.The treatment of MS depends on the clinical presentation,tumor location,and the patient's response to conventional therapies.The various therapeutic options currently available are analyzed and discussed.Early intervention and multidisciplinary management are crucial for improving treatment outcomes.Increased awareness and education about the various clinical presentations of MS lead to earlier diagnosis and timely treatment,thereby enhancing patients'survival and quality of life.Continued research is essential for optimizing therapeutic strategies and addressing the challenges presented by this rare neoplasm.展开更多
Therapy-related myeloid neoplasms are neoplastic processes arising as a result of chemotherapy, radiation therapy, or a combination of these modalities given for a primary condition. The disease biology varies based o...Therapy-related myeloid neoplasms are neoplastic processes arising as a result of chemotherapy, radiation therapy, or a combination of these modalities given for a primary condition. The disease biology varies based on the etiology and treatment modalities patients receive for their primary condition. Topoisomerase II inhibitor therapy results in balanced translocations. Alkylating agents, characteristically, give rise to more complex karyotypes and mutations in p53. Other etiologies include radiation therapy, high-dose chemotherapy with autologous stem cell transplantation and telomere dysfunction. Poor-risk cytogenetic abnormalities are more prevalent than they are in de novo leukemias and the prognosis of these patients is uniformly dismal. Outcome varies according to cytogenetic risk group. Treatment recommendations should be based on performance status and karyotype. An in-depth understanding of risk factors that lead to the development of therapy-related myeloid neoplasms would help developing risk-adapted treatment protocols and monitoring patients after treatment for the primary condition, translating into reduced incidence, early detection and timely treatment.展开更多
BACKGROUND Myeloid neoplasm(MN)with eosinophilia and rearrangement of platelet-derived growth factor receptor beta(PDGFRB)shows a good therapeutic response to imatinib in adults.MN is rarely found in children,and the ...BACKGROUND Myeloid neoplasm(MN)with eosinophilia and rearrangement of platelet-derived growth factor receptor beta(PDGFRB)shows a good therapeutic response to imatinib in adults.MN is rarely found in children,and the efficacy of imatinib on pediatric patients remain unclear.CASE SUMMARY We report 2 pediatric cases diagnosed with MN with eosinophilia and PDGFRB rearrangement who were treated with imatinib.Case 1 was a 1-year-old girl admitted to the hospital because of“abdominal distension with hyperleukocytosis for 3 mo”.She had leukocytosis,anemia,and eosinophilia(the absolute eosinophil count(AEC)was 8960/μL),and her fluorescence in situ hybridization(FISH)test revealed that PDGFRB rearrangement was detected in 70%of 500 interphase cells.Case 2 was a 2-year-old girl admitted to the hospital because of“recurrent fever and rashes for 1 mo”.Her blood cell count showed an AEC of 3540/μL.The FISH test revealed that PDGFRB rearrangement was detected in 71%of 500 interphase cells.Both patients were diagnosed as MN with eosinophilia and PDGFRB rearrangement.Imatinib was added into their treatment regimen.As expected,complete hematologic remission was achieved after 1 mo of treatment,and symptoms disappeared.CONCLUSION Although MN with eosinophilia and PDGFRB rearrangement usually occurs in adults,it can be found in children.The therapeutic benefits of imatinib in these 2 pediatric patients were consistent with its reported effects in adult patients.展开更多
The liver has a central role in metabolism,therefore,it is susceptible to harmful effects of ingested medications(drugs,herbs,and nutritional supplements).Druginduced liver injury(DILI)comprises a range of unexpected ...The liver has a central role in metabolism,therefore,it is susceptible to harmful effects of ingested medications(drugs,herbs,and nutritional supplements).Druginduced liver injury(DILI)comprises a range of unexpected reactions that occur after exposure to various classes of medication.Even though most cases consist of mild,temporary elevations in liver enzyme markers,DILI can also manifest as acute liver failure in some patients and can be associated with mortality.Herein,we briefly review available data on DILI induced by targeted anticancer agents in managing classical myeloproliferative neoplasms:Chronic myeloid leukemia,polycythemia vera,essential thrombocythemia,and myelofibrosis.展开更多
BACKGROUND The Janus kinase 2(JAK2) V617 F mutation is common in patients with breakpoint cluster region-Abelson1(BCR-ABL1)-negative myeloproliferative neoplasms,including polycythemia vera, essential thrombocythemia ...BACKGROUND The Janus kinase 2(JAK2) V617 F mutation is common in patients with breakpoint cluster region-Abelson1(BCR-ABL1)-negative myeloproliferative neoplasms,including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic myeloid leukemia(CML) patients. Here, we report a CML patient with both a BCR-ABL1 rearrangement and JAK2 V617 F mutation.CASE SUMMARY A 45-year-old Chinese woman was admitted to our department with a history of significant thrombocytosis for 20 d. Color Doppler ultrasound examination showed mild splenomegaly. Bone marrow aspiration revealed a karyotype of 46,XX, t(9;22)(q34;q11.2) in 20/20 metaphases by cytogenetic analysis,rearrangement of BCR-ABL1(32.31%) by fluorescent polymerase chain reaction(PCR) and mutation of JAK2 V617 F(10%) by PCR and Sanger DNA sequencing.The patient was diagnosed with CML and JAK2 V617 F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCRABL1(IS) was 0.143%, while the mutation rate of JAK2 V617 F rose to 15%.CONCLUSION Emphasis should be placed on the detection of JAK2 mutation when CML is diagnosed to distinguish JAK2 mutation-positive CML and formulate treatment strategies.展开更多
Acute myeloid leukemia(AML) is a genetically heterogeneous myeloid malignancy that occurs more commonly in adults, and has an increasing incidence, most likely due to increasing age. Precise diagnostic classification ...Acute myeloid leukemia(AML) is a genetically heterogeneous myeloid malignancy that occurs more commonly in adults, and has an increasing incidence, most likely due to increasing age. Precise diagnostic classification of AML requires clinical and pathologic information, the latter including morphologic, immunophenotypic, cytogenetic and molecular genetic analysis. Risk stratification in AML requires cytogenetics evaluation as the most important predictor, with genetic mutations providing additional necessary information. AML with normal cytogenetics comprises about 40%-50% of all AML, and has been intensively investigated. The currently used 2008 World Health Organization classification of hematopoietic neoplasms has been proposed to be updated in2016, also to include an update on the classification of AML, due to the continuously increasing application of genomic techniques that have led to major advances in our knowledge of the pathogenesis of AML. The purpose of this review is to describe some of these recent major advances in the diagnostic classification and risk stratification of AML.展开更多
BACKGROUND Epidermal growth factor receptor tyrosine kinase inhibitors(EGFR-TKIs)are tolerable drugs used for patients with EGFR-mutant advanced non-small cell lung cancer(NSCLC).Serious adverse reactions are uncommon...BACKGROUND Epidermal growth factor receptor tyrosine kinase inhibitors(EGFR-TKIs)are tolerable drugs used for patients with EGFR-mutant advanced non-small cell lung cancer(NSCLC).Serious adverse reactions are uncommon compared with cytotoxic drugs.CASE SUMMARY A 52-year-old man presented with general weakness and cytopenia.He had been taking erlotinib for 11 mo to treat NSCLC.The pathological diagnosis from the right upper lobe mass was adenocarcinoma with an EGFR mutation in exon 21(L858R).He had previously received paclitaxel/carboplatin,gemcitabin/vinorelbine chemotherapy,stereotactic radiosurgery for brain metastasis,and whole-brain radiotherapy as treatment for NSCLC.We diagnosed the patient with acute myeloid leukemia(AML).During the induction and consolidation chemotherapy for AML,the erlotinib was discontinued.When complete remission of the AML was achieved,since the lung masses were increased,pemetrexed/cisplatin for the NSCLC was initiated.After two cycles of chemotherapy,the cytopenia was prolonged.AML relapse occurred with the same karyotype.CONCLUSION Therapy-related acute myeloid neoplasm(t-MN)is a rare but fatal late complication.Although a patient may be taking EGFR-TKIs,the possibility of t-MN should be considered.Further studies are needed to determine whether EGFR-TKI usage is a predisposing factor for t-MN.展开更多
Background: Patients with stem cell myeloproliferative disorders have a particularly poor prognosis and limited treatment options, i.e. mainly aggressive chemotherapy or allogeneic stem cell transplantation. In 2004, ...Background: Patients with stem cell myeloproliferative disorders have a particularly poor prognosis and limited treatment options, i.e. mainly aggressive chemotherapy or allogeneic stem cell transplantation. In 2004, Chen et al. reported a patient presenting a t(8;13) (p11;q12) cytogenic anomaly who responded positively to treatment with PKC412 (midostaurin), an oral multi-targeted tyrosine kinase inhibitor. Here, we report a second case treated with the above-mentioned drug. Patient: A 71-year-old woman was diagnosed as having chronic myelogenous leukaemia with eosinophilia secondary to t(8;13) with FGFR1 involvement. Due to her age, an allogeneic stem cell transplantation was not possible. Treatment: A treatment combining aggressive chemotherapy and midostaurin was explored. The patient received one cycle of hyper-CVAD chemotherapy followed by maintenance therapy with midostaurin. A relapse occurred after six months, and she was treated with four more cycles of hyper-CVAD chemotherapy. The patient entered a complete clinical, haematological and cytogenetic remission. A maintenance therapy with midostaurin continued for four months until she developed a chemoresistant relapse followed by acute leukaemia. Conclusion: This is the second case of a t(8;13) myeloid and lymphoid neoplasm with FGFR1 abnormalities treated successfully with midostaurin. Midostaurin is administered orally, allows for outpatient care and in this case showed only occasional and minimal side effects. The combination of hyper-CVAD and midostaurin extended survival by 21 months without allogeneic transplantation. This case further supports the possibility of using midostaurin for the treatment of other diseases with FGFR1 dysregulations;however, specific clinical trials are needed to confirm this hypothesis.展开更多
文摘Myeloid sarcoma(MS)is a rare neoplasm characterized by the proliferation of immature myeloid precursor cells outside the bone marrow.The pathogenesis of MS is complex and not completely understood.Moreover,it develops in any extramedullary site of the body.In this editorial,we discuss the article published by Li et al,which presents a clinical case involving a 32-year-old man who exhibited gingival inflammation in the maxillary region.It was initially diagnosed as periodontal disease.However,clinical evaluation revealed a firm,grayishwhite mass which underscored the need for comprehensive diagnostics to distinguish MS from other oral conditions.This article emphasizes the different clinical presentations of similar case studies in the literature,and highlights the difficulty in diagnosing oral MS due to its rarity and variability in clinical manifestation.The treatment of MS depends on the clinical presentation,tumor location,and the patient's response to conventional therapies.The various therapeutic options currently available are analyzed and discussed.Early intervention and multidisciplinary management are crucial for improving treatment outcomes.Increased awareness and education about the various clinical presentations of MS lead to earlier diagnosis and timely treatment,thereby enhancing patients'survival and quality of life.Continued research is essential for optimizing therapeutic strategies and addressing the challenges presented by this rare neoplasm.
文摘Therapy-related myeloid neoplasms are neoplastic processes arising as a result of chemotherapy, radiation therapy, or a combination of these modalities given for a primary condition. The disease biology varies based on the etiology and treatment modalities patients receive for their primary condition. Topoisomerase II inhibitor therapy results in balanced translocations. Alkylating agents, characteristically, give rise to more complex karyotypes and mutations in p53. Other etiologies include radiation therapy, high-dose chemotherapy with autologous stem cell transplantation and telomere dysfunction. Poor-risk cytogenetic abnormalities are more prevalent than they are in de novo leukemias and the prognosis of these patients is uniformly dismal. Outcome varies according to cytogenetic risk group. Treatment recommendations should be based on performance status and karyotype. An in-depth understanding of risk factors that lead to the development of therapy-related myeloid neoplasms would help developing risk-adapted treatment protocols and monitoring patients after treatment for the primary condition, translating into reduced incidence, early detection and timely treatment.
文摘BACKGROUND Myeloid neoplasm(MN)with eosinophilia and rearrangement of platelet-derived growth factor receptor beta(PDGFRB)shows a good therapeutic response to imatinib in adults.MN is rarely found in children,and the efficacy of imatinib on pediatric patients remain unclear.CASE SUMMARY We report 2 pediatric cases diagnosed with MN with eosinophilia and PDGFRB rearrangement who were treated with imatinib.Case 1 was a 1-year-old girl admitted to the hospital because of“abdominal distension with hyperleukocytosis for 3 mo”.She had leukocytosis,anemia,and eosinophilia(the absolute eosinophil count(AEC)was 8960/μL),and her fluorescence in situ hybridization(FISH)test revealed that PDGFRB rearrangement was detected in 70%of 500 interphase cells.Case 2 was a 2-year-old girl admitted to the hospital because of“recurrent fever and rashes for 1 mo”.Her blood cell count showed an AEC of 3540/μL.The FISH test revealed that PDGFRB rearrangement was detected in 71%of 500 interphase cells.Both patients were diagnosed as MN with eosinophilia and PDGFRB rearrangement.Imatinib was added into their treatment regimen.As expected,complete hematologic remission was achieved after 1 mo of treatment,and symptoms disappeared.CONCLUSION Although MN with eosinophilia and PDGFRB rearrangement usually occurs in adults,it can be found in children.The therapeutic benefits of imatinib in these 2 pediatric patients were consistent with its reported effects in adult patients.
文摘The liver has a central role in metabolism,therefore,it is susceptible to harmful effects of ingested medications(drugs,herbs,and nutritional supplements).Druginduced liver injury(DILI)comprises a range of unexpected reactions that occur after exposure to various classes of medication.Even though most cases consist of mild,temporary elevations in liver enzyme markers,DILI can also manifest as acute liver failure in some patients and can be associated with mortality.Herein,we briefly review available data on DILI induced by targeted anticancer agents in managing classical myeloproliferative neoplasms:Chronic myeloid leukemia,polycythemia vera,essential thrombocythemia,and myelofibrosis.
文摘BACKGROUND The Janus kinase 2(JAK2) V617 F mutation is common in patients with breakpoint cluster region-Abelson1(BCR-ABL1)-negative myeloproliferative neoplasms,including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic myeloid leukemia(CML) patients. Here, we report a CML patient with both a BCR-ABL1 rearrangement and JAK2 V617 F mutation.CASE SUMMARY A 45-year-old Chinese woman was admitted to our department with a history of significant thrombocytosis for 20 d. Color Doppler ultrasound examination showed mild splenomegaly. Bone marrow aspiration revealed a karyotype of 46,XX, t(9;22)(q34;q11.2) in 20/20 metaphases by cytogenetic analysis,rearrangement of BCR-ABL1(32.31%) by fluorescent polymerase chain reaction(PCR) and mutation of JAK2 V617 F(10%) by PCR and Sanger DNA sequencing.The patient was diagnosed with CML and JAK2 V617 F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCRABL1(IS) was 0.143%, while the mutation rate of JAK2 V617 F rose to 15%.CONCLUSION Emphasis should be placed on the detection of JAK2 mutation when CML is diagnosed to distinguish JAK2 mutation-positive CML and formulate treatment strategies.
文摘Acute myeloid leukemia(AML) is a genetically heterogeneous myeloid malignancy that occurs more commonly in adults, and has an increasing incidence, most likely due to increasing age. Precise diagnostic classification of AML requires clinical and pathologic information, the latter including morphologic, immunophenotypic, cytogenetic and molecular genetic analysis. Risk stratification in AML requires cytogenetics evaluation as the most important predictor, with genetic mutations providing additional necessary information. AML with normal cytogenetics comprises about 40%-50% of all AML, and has been intensively investigated. The currently used 2008 World Health Organization classification of hematopoietic neoplasms has been proposed to be updated in2016, also to include an update on the classification of AML, due to the continuously increasing application of genomic techniques that have led to major advances in our knowledge of the pathogenesis of AML. The purpose of this review is to describe some of these recent major advances in the diagnostic classification and risk stratification of AML.
文摘BACKGROUND Epidermal growth factor receptor tyrosine kinase inhibitors(EGFR-TKIs)are tolerable drugs used for patients with EGFR-mutant advanced non-small cell lung cancer(NSCLC).Serious adverse reactions are uncommon compared with cytotoxic drugs.CASE SUMMARY A 52-year-old man presented with general weakness and cytopenia.He had been taking erlotinib for 11 mo to treat NSCLC.The pathological diagnosis from the right upper lobe mass was adenocarcinoma with an EGFR mutation in exon 21(L858R).He had previously received paclitaxel/carboplatin,gemcitabin/vinorelbine chemotherapy,stereotactic radiosurgery for brain metastasis,and whole-brain radiotherapy as treatment for NSCLC.We diagnosed the patient with acute myeloid leukemia(AML).During the induction and consolidation chemotherapy for AML,the erlotinib was discontinued.When complete remission of the AML was achieved,since the lung masses were increased,pemetrexed/cisplatin for the NSCLC was initiated.After two cycles of chemotherapy,the cytopenia was prolonged.AML relapse occurred with the same karyotype.CONCLUSION Therapy-related acute myeloid neoplasm(t-MN)is a rare but fatal late complication.Although a patient may be taking EGFR-TKIs,the possibility of t-MN should be considered.Further studies are needed to determine whether EGFR-TKI usage is a predisposing factor for t-MN.
文摘Background: Patients with stem cell myeloproliferative disorders have a particularly poor prognosis and limited treatment options, i.e. mainly aggressive chemotherapy or allogeneic stem cell transplantation. In 2004, Chen et al. reported a patient presenting a t(8;13) (p11;q12) cytogenic anomaly who responded positively to treatment with PKC412 (midostaurin), an oral multi-targeted tyrosine kinase inhibitor. Here, we report a second case treated with the above-mentioned drug. Patient: A 71-year-old woman was diagnosed as having chronic myelogenous leukaemia with eosinophilia secondary to t(8;13) with FGFR1 involvement. Due to her age, an allogeneic stem cell transplantation was not possible. Treatment: A treatment combining aggressive chemotherapy and midostaurin was explored. The patient received one cycle of hyper-CVAD chemotherapy followed by maintenance therapy with midostaurin. A relapse occurred after six months, and she was treated with four more cycles of hyper-CVAD chemotherapy. The patient entered a complete clinical, haematological and cytogenetic remission. A maintenance therapy with midostaurin continued for four months until she developed a chemoresistant relapse followed by acute leukaemia. Conclusion: This is the second case of a t(8;13) myeloid and lymphoid neoplasm with FGFR1 abnormalities treated successfully with midostaurin. Midostaurin is administered orally, allows for outpatient care and in this case showed only occasional and minimal side effects. The combination of hyper-CVAD and midostaurin extended survival by 21 months without allogeneic transplantation. This case further supports the possibility of using midostaurin for the treatment of other diseases with FGFR1 dysregulations;however, specific clinical trials are needed to confirm this hypothesis.
