Numerous genetic abnormalities which can not be identified by cytogenetic detection (e.g., gene mutations, gene expression abnormalities) have been gradually found, which means that the further molecular classification of AML (acute myeloid leukemia) with distinctive prognosis have arrived. For example, mutations of the transcription factor (CCAAT enhancer binding factor alpha, C/EBPalpha) or nucleophosmin-1 (NPM1) may predict better prognosis, whereas partial tandem duplications of the MLL gene (MLL-PTD), internal tandem duplications of FLT3 (FLT3-ITD) or mutations of WT1 gene confer worse prognosis. This review focuses on the features and relationship of these genetic abnormalities, as well as their influence on the prognosis of AML.
Humans ; Leukemia, Myeloid, Acute ; diagnosis ; genetics ; Prognosis

Aged ; Humans ; Leukemia, Myeloid, Acute ; diagnosis ; therapy

Granulocytic sarcoma is a rare extramedullary tumor composed of immature granulocytic precursors. Usually, granulocytic sarcoma is seen in association with acute myeloid leukemia, or other myeloproliferative disorders. Rarely, it may manifest as a primary presentation before the onset of systemic disease in acute myeloid leukemia. The clinical suspicion of granulocytic sarcoma based on imaging findings is important for the management of the patient especially when systemic disease of acute myeloid leukemia is not confirmed as in our case. We report the MR findings of a granulocytic sarcoma in the left leg mimicking hemorrhagic abscess in a patient with acute myeloid leukemia. We believe that MRI can be a helpful diagnostic method of making a differential diagnosis of granulocytic sarcoma in a patient with leukemia, and this can be done by analyzing the signal intensity and the enhancement pattern.
Abscess ; Diagnosis, Differential ; Humans ; Leg ; Leukemia ; Leukemia, Myeloid, Acute ; Myeloproliferative Disorders ; Sarcoma, Myeloid

The granulocytic sarcoma is a rare tumor and occurs primarily in patients with acute myelogenous leukemia (AML). The granulocytic sarcoma can arise before, concurrent with, or following acute myeloid leukemia. This tumor can be rarely represented as the initial presentation of acute myeloid leukemia without any signs or symptoms of leukemia. Granulocytic sarcoma, rarely, can also occur in unexpected regions, including the head and neck. This tumor is very often misdiagnosed as a malignant lymphoma which leads to inappropriate treatment and poor outcome. Therefore, clinical, histopathological and immumohistochemical findings should be evaluated before any diagnosis of malignant lymphoma. We report, with a brief review of literature, a case of granulocytic sarcoma presenting as a head and neck neoplasm.
Diagnosis ; Head* ; Humans ; Leukemia ; Leukemia, Myeloid, Acute ; Lymphoma ; Neck* ; Sarcoma, Myeloid*

Acute myeloid leukemia (AML) is a group of diseases with a conspicuous heterogeneity. Following the development of cytogenetics, multiple reproducible chromosome aberrations have been discovered in AML, many of which not only are diagnostic markers for specific AML subtypes but also significant prognostic factors for determining complete remission (CR), relapse risk, and overall survival (OS). However, with the foundation of available chromosome analysis, a large group of acute myeloid leukemia (AML) patients, 40% to 49% of adults and 25% of children had not been found abnormality of chromosome karyotype under microscope. These so-called cytogenetically normal acute myeloid leukemia (CN-AML) patients have usually been classified in an intermediate-risk prognostic category. Nevertheless, the outcome of the CN-AML patients are varied in clinical studies, likely because there exist diverse gene mutations in these patients according to recent researches. Those mutations at the molecular level, on basis of which AML could be further classified, are significantly associated with CN-AML patients and offer potential targets for specific therapeutic studies. The review focuses on research advances abroad in this field including gene mutations suggesting bad prognosis such as FMS-related tyrosine kinase 3 gene mutation, Baalc gene and ETS-related gene hyperexpression, Wilms' tumor gene mutation and other gene mutations as well as gene mutations suggesting good prognosis such as nucleophosmin gene mutation, mixed lineage leukemia-partial tandem duplication, CCAAT/enhancer-binding protein α gene mutation.
Cytogenetics ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; diagnosis ; genetics ; Prognosis

BACKGROUND: The findings of dysplastic features in haemopoietic cells in de novo acute myeloid leukemia(AML) is defined as AML with trilineage myelodysplasia(AML/TMDS). These cases have been reported accounting for 10-5% of de novo AML. The rate of complete remission(CR) in AML/TMDS to conventional chemotherapy is poor and relapse occur much earlier than in patients without dysplastic features. TMDS features are also observed during remission and termed this de novo AML with myelodysplastic remission marrow(AML/MRM). Recent report described that TMDS during remission was more closely related to prognosis than dysplastic features at diagnosis. We investigated the incidence of AML/TMDS and AML/MRM and evaluated the impending role of dysplasia in prognosis. METHOD: Ninety-ive patients with de novo AML from March 1994 to December 1998 were enrolled according to the FAB classifiction. To determine AML/TMDS and AML/MRM, we used Brito-abapulle's criteria and Kazuhiro's criteria. Prognosis was aalysed by the means of disease free survival(DFS) and overall survival(OS). RESULTS: Nine(9.5%) patients had AML/TMDS and it was 7.7%, 17.2%, 50% of patients with M2, M4 and M6. CR rate was 44.4% for TMDS patients compared to 76.7% for patients without TMDS(p<0.05). AML/TMDS also showed significantly shorter DFS and OS. The incidence of AML/MRM was higher in the group of AML/TMDS(44.4%) compared to AML without TMDS(8.1%) but was not related to prognosis. CONCLUSION: We concluded that the presence of TMDS in de novo AML exerts a negative effect on the ability to achieve CR and in the prognosis. But the MRM has no significance to predict poor prognosis and early relapse.
Diagnosis ; Drug Therapy ; Humans ; Incidence ; Leukemia, Myeloid, Acute* ; Prognosis ; Recurrence

BACKGROUND: The findings of dysplastic features in haemopoietic cells in de novo acute myeloid leukemia(AML) is defined as AML with trilineage myelodysplasia(AML/TMDS). These cases have been reported accounting for 10-5% of de novo AML. The rate of complete remission(CR) in AML/TMDS to conventional chemotherapy is poor and relapse occur much earlier than in patients without dysplastic features. TMDS features are also observed during remission and termed this de novo AML with myelodysplastic remission marrow(AML/MRM). Recent report described that TMDS during remission was more closely related to prognosis than dysplastic features at diagnosis. We investigated the incidence of AML/TMDS and AML/MRM and evaluated the impending role of dysplasia in prognosis. METHOD: Ninety-ive patients with de novo AML from March 1994 to December 1998 were enrolled according to the FAB classifiction. To determine AML/TMDS and AML/MRM, we used Brito-abapulle's criteria and Kazuhiro's criteria. Prognosis was aalysed by the means of disease free survival(DFS) and overall survival(OS). RESULTS: Nine(9.5%) patients had AML/TMDS and it was 7.7%, 17.2%, 50% of patients with M2, M4 and M6. CR rate was 44.4% for TMDS patients compared to 76.7% for patients without TMDS(p<0.05). AML/TMDS also showed significantly shorter DFS and OS. The incidence of AML/MRM was higher in the group of AML/TMDS(44.4%) compared to AML without TMDS(8.1%) but was not related to prognosis. CONCLUSION: We concluded that the presence of TMDS in de novo AML exerts a negative effect on the ability to achieve CR and in the prognosis. But the MRM has no significance to predict poor prognosis and early relapse.
Diagnosis ; Drug Therapy ; Humans ; Incidence ; Leukemia, Myeloid, Acute* ; Prognosis ; Recurrence

China ; Guidelines as Topic ; Humans ; Leukemia, Myeloid, Acute ; diagnosis ; therapy

Acute myeloid leukemia (AML) is a rare type of childhood acute leukemia, which has a worse prognosis than childhood acute lymphoblastic leukemia. Over the past decade, significant progress has been made in the treatment of childhood AML and the 5-year event-free survival rate may be as high as 70% in developed countries. This survival improvement is largely attributable to risk-stratified treatments, therapies tailored to individual patients based on the biological characteristics of the disease, and continuously improving supportive care. An accurate diagnosis is the prerequisite for risk stratification, prognostic evaluation and therapeutic decision making. How to reduce early mortality and thus improve overall survival, how to implement appropriate supportive treatment to reduce treatment-associated complications, and how to reduce treatment-related mortality are the key to the improvement of therapies for childhood acute myeloid leukemia.
Child ; Humans ; Leukemia, Myeloid, Acute ; diagnosis ; drug therapy ; genetics ; mortality ; Leukemia, Promyelocytic, Acute ; drug therapy ; genetics

A rare case of spinal epidural granulocytic sarcoma preceding acute myelogenous leukemia is described. A 21 years old female patient was presented with acute paraparesis. An emergency decompressive laminectomy with removal of mass was performed. The final pathological diagnosis was granulocytic sarcoma. Her neurological symptoms and signs were improved after operation. This rare tumor should be considered in the differential diagnosis of an epidural mass with cord compression in patients with or without acute leukemia, because early diagnosis followed by appropriate combined chemotherapy and radiation may obviate surgical intervention and eventually prevent leukemic transformation.
Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Early Diagnosis ; Emergencies ; Female ; Humans ; Laminectomy ; Leukemia ; Leukemia, Myeloid, Acute ; Paraparesis* ; Sarcoma, Myeloid* ; Young Adult