scholarly journals Recurrence of a t(8;21)-Positive Acute Myeloid Leukemia in the Form of a Granulocytic Sarcoma Involving Cranial Bones: A Diagnostic and Therapeutic Challenge

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Ambra Di Veroli ◽  
Alessandro Micarelli ◽  
Mariagiovanna Cefalo ◽  
Eleonora Ceresoli ◽  
Daniela Nasso ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Molecular Level ◽  
Fusion Gene ◽  
Granulocytic Sarcoma ◽  
African Origin ◽  
Molecular Abnormalities ◽  
Immature Myeloid Cells ◽  
Previously Treated ◽  
Acute Myeloid

Granulocytic sarcoma (GS) is a rare extramedullary solid tumor defined as an accumulation of myeloblasts or immature myeloid cells. It can cooccur with or precede the acute myeloid leukemia (AML) as well as following treated AML. The incidence of GS in AML patients is 3–8% but it significantly rises in M2 FAB subtype AML. This variety of AML harbors t(8;21) in up to 20–25% of cases (especially in children and black ones of African origin) and, at a molecular level, it is characterized by the generation of a fusion gene known as RUNX1-RUNX1T1. Approximately 10% of M2 AML patients will develop GS, as a consequence, the t(8;21) and the relative transcript represent the most common cytogenetic and molecular abnormalities in GS. FLT3-ITD mutation was rarely described in AML patients presenting with GS. FLT3 ITD is generally strongly associated with poor prognosis in AML, and is rarely reported in patients with t(8;21). GS presentation is extremely variable depending on organs involved; in general, cranial bones and sinus are very rarely affected sites. We report a rare case of GS occurring as a recurrence of a previously treated t(8;21), FLT3-ITD positive AML, involving mastoid bones and paravertebral tissues.

Granulocytic sarcoma of mesentery in acute myeloid leukemia with CBFB/MYH11 fusion gene but not inv(16) chromosome: Case report and review of literature

2006 ◽  
Vol 30 (8) ◽  
pp. 1053-1057 ◽  
Author(s):  
Atsushi Fujieda ◽  
Kazuhiro Nishii ◽  
Tomoki Tamaru ◽  
Shoichiro Otsuki ◽  
Kazuhiko Kobayashi ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Case Report ◽  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Granulocytic Sarcoma ◽  
Review Of Literature ◽  
Acute Myeloid

Mediastinal Myeloid Sarcoma with TP53 Mutation Preceding Acute Myeloid Leukemia with a PICALM-MLLT10 Fusion Gene

2018 ◽  
Vol 140 (2) ◽  
pp. 97-104 ◽  
Author(s):  
Leslie Naesens ◽  
Helena Devos ◽  
Friedel Nollet ◽  
Lucienne Michaux ◽  
Dominik Selleslag
Keyword(s):  
Acute Myeloid Leukemia ◽  
Case Report ◽  
Myeloid Leukemia ◽  
Tp53 Mutation ◽  
Metabolic Response ◽  
Fusion Gene ◽  
Granulocytic Sarcoma ◽  
Myeloid Sarcoma ◽  
Tumor Mass ◽  
Acute Myeloid

Introduction: Myeloid sarcoma (MS), previously known as granulocytic sarcoma or chloroma, is a rare neoplastic condition defined as a tumor mass consisting of myeloblasts or immature myeloid cells occurring at an extramedullary site. Clinical presentation is diverse and determined by a tumor mass effect or local organ dysfunction. Case Report: We report the case of a 25-year-old previously healthy male with rapidly progressive shortness of breath. A chest CT scan demonstrated a heterogenous anterosuperior mediastinal mass with pleural and pericardial invasion. A diagnosis of MS with both myeloid and lymphoid characteristics was made by pathologic, morphologic, and immunophenotypic investigation. Next generation analysis revealed a pathogenic TP53 mutation (c.1035_1036insCT, p.Glu346Leufs*25). After 4 cycles of chemotherapy only a partial metabolic response and tumor size reduction was obtained. A pretransplant bone marrow biopsy revealed the progression of disease to acute myeloid leukemia. Cytogenetic analysis demonstrated a t(10; 11)(p12;q21). Fluorescence in situ hybridization confirmed the presence of a PICALM-MLLT10 fusion gene. Conclusion: MS with a mediastinal localization is rare and often misdiagnosed as malignant lymphoma. Acute leukemia harboring a PICALM-MLLT10 fusion gene is characterized by a mixed T cell and myeloid phenotype. The rearrangement is a rare recurrent translocation associated with specific clinical features, as illustrated in this case report.

scholarly journals Combined use of interferon alpha-1b, interleukin-2, and thalidomide to reverse the AML1-ETO fusion gene in acute myeloid leukemia

2021 ◽  
Author(s):  
Ruihua Mi ◽  
Lin Chen ◽  
Haiping Yang ◽  
Yan Zhang ◽  
Jia Liu ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Interferon Alpha ◽  
Myeloid Leukemia ◽  
Clinical Medicine ◽  
Fusion Gene ◽  
Interleukin 2 ◽  
Effective Rate ◽  
Dose Administration ◽  
Combined Use ◽  
Acute Myeloid

AbstractThis study aims to explore the effect of the ITI (interferon alpha-1b, thalidomide, and interleukin-2) regimen on the AML1-ETO fusion gene in patients with t(8;21) acute myeloid leukemia (AML) who were in hematologic remission but positive for the AML1-ETO fusion gene. From September 2014 to November 2020; 20 patients with AML (15 from The Affiliated Cancer Hospital of Zhengzhou University, 4 from The First Affiliated Hospital; and College of Clinical Medicine of Henan University of Science and Technology, and 1 from Anyang District Hospital) with hematological remission but AML1-ETO fusion gene positivity were treated with different doses of the ITI regimen to monitor changes in AML1-ETO fusion gene levels. Twenty patients were treated with a routine dose of the ITI regimen, including 13 males and 7 females. The median patient age was 38 (14–70 years). The fusion gene was negative in 10 patients after 1 (0.5 ~ 8.6) month, significantly decreased in 4 patients after 2.8 (1 ~ 6) months, increased in 4 patients, and unchanged in 2 patients. The 4 patients with elevated levels of the fusion gene were treated with an increased dose of the ITI regimen, and all four patients became negative, for a total effective rate of 90%. The ITI regimen reduces AML1-ETO fusion gene levels in patients with AML who are in hematologic remission but are fusion gene–positive. Improvement was observed in patients’ response to a higher dose administration, and patients tolerated the treatment well.

scholarly journals The specific distribution pattern of IKZF1 mutation in acute myeloid leukemia

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Xiang Zhang ◽  
Xuewu Zhang ◽  
Xia Li ◽  
Yunfei Lv ◽  
Yanan Zhu ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Lymphoblastic Leukemia ◽  
Genetic Alteration ◽  
Missense Mutations ◽  
Nonsense Mutations ◽  
Specific Distribution ◽  
Aggressive Clinical Course ◽  
Acute Myeloid

Abstract IKZF1 belongs to the IKAROS family of transcription factors, and its deletion/mutation frequently affects acute lymphoblastic leukemia. In acute myeloid leukemia, IKZF1 deletion has been demonstrated recurrent, but whether IKZF1 mutation also exists in AML remained largely unknown. Herein, we analyzed the IKZF1 mutation in AML. In our cohort, the frequency of IKZF1 mutation was 2.6% (5/193), and 5 frameshift/nonsense mutations as well as 2 missense mutations were identified in total. Molecularly, IKZF1 mutation was absent in fusion gene-positive AML, but it was demonstrated as the significant concomitant genetic alteration with SF3B1 or bi-alleleCEBPA mutation in AML. Clinically, two IKZF1, PTPN11 and SF3B1-mutated AML patients exhibited one aggressive clinical course and showed primary resistant to chemotherapy. Furthermore, we confirmed the recurrent IKZF1 mutation in AML with cBioPortal tool from OHSU, TCGA and TARGET studies. Interestingly, OHSU study also showed that SF3B1 mutation was the significant concomitant genetic alteration with IKZF1 mutation, indicating their strong synergy in leukemogenesis. In conclusion, IKZF1 mutation recurrently affected AML.

scholarly journals Ocular Granulocytic Sarcoma: A Case Report and Literature Review of Ocular Extramedullary Acute Myeloid Leukemia

2013 ◽  
Vol 13 (1) ◽  
pp. 93-96 ◽  
Author(s):  
Maro Ohanian ◽  
Gautam Borthakur ◽  
Alfonso Quintas-Cardama ◽  
Michael Mathisen ◽  
Jorge E. Cortés ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Case Report ◽  
Literature Review ◽  
Myeloid Leukemia ◽  
Granulocytic Sarcoma ◽  
Acute Myeloid

Granulocytic Sarcoma of Bladder in an 18-mo-old Child with Acute Myeloid Leukemia

2014 ◽  
Vol 81 (10) ◽  
pp. 1118-1119
Author(s):  
C. G. Delhi Kumar ◽  
V. Thilagavathy ◽  
Thirunavukkarasu Arun Babu
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Granulocytic Sarcoma ◽  
Acute Myeloid

scholarly journals A Dynamic Model of PI3K/AKT Pathways in Acute Myeloid Leukemia

2018 ◽  
Vol 2018 ◽  
pp. 1-9 ◽  
Author(s):  
Yudi Ari Adi ◽  
Fajar Adi-Kusumo ◽  
Lina Aryati ◽  
Mardiah S. Hardianti
Keyword(s):  
Mathematical Model ◽  
Acute Myeloid Leukemia ◽  
Numerical Simulations ◽  
Signaling Pathways ◽  
Myeloid Leukemia ◽  
Akt Signaling ◽  
Dimensional System ◽  
First Order ◽  
Immature Myeloid Cells ◽  
Acute Myeloid

Acute myeloid leukemia (AML) is a malignant hematopoietic disorder characterized by uncontrolled proliferation of immature myeloid cells. In the AML cases, the phosphoinositide 3-kinases (PI3K)/AKT signaling pathways are frequently activated and strongly contribute to proliferation and survival of these cells. In this paper, a mathematical model of the PI3K/AKT signaling pathways in AML is constructed to study the dynamics of the proteins in these pathways. The model is a 5-dimensional system of the first-order ODE which describes the interaction of the proteins in AML. The interactions between those components are assumed to follow biochemical reactions, which are modelled by Hill’s equation. From the numerical simulations, there are three potential components targets in PI3K/AKT pathways to therapy in the treatment of AML patient.

How I treat acute myeloid leukemia

Blood ◽  
2010 ◽  
Vol 116 (17) ◽  
pp. 3147-3156 ◽  
Author(s):  
Jacob M. Rowe ◽  
Martin S. Tallman
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Allogeneic Transplantation ◽  
Malignant Cell ◽  
Current Approach ◽  
Molecular Abnormalities ◽  
The Past ◽  
Survival Pathways ◽  
Large Populations ◽  
Acute Myeloid

AbstractMore than one quarter of a million adults throughout the world are diagnosed annually with acute myeloid leukemia (AML). Despite considerable progress during the past 3 decades in the therapy of AML, two-thirds of young adults and 90% of older adults still die of their disease. The reported median age has increased over the past few decades, mostly because of a greater willingness of physicians to diagnose and treat older patients, and now is 72 years. The greatest challenge is in this age group. However, much improvement in therapy is needed for all adults with AML. Recent advances in allogeneic transplantation, a better understanding of prognostic factors, and development of targeted agents have only modestly improved overall outcome when large populations of patients are considered. Although an explosion in knowledge about the molecular pathogenesis of AML has outpaced treatment advances, such insights hold promise for the development of new therapies directed at specific molecular abnormalities that perturb malignant cell survival pathways. The current approach in 2010 to the management of this disease is presented through a discussion of illustrative cases.

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