scholarly journals Acute myeloid leukemia mmicking an Ewing’s sarcoma family tumor: A clinical case

2021 ◽  
Vol 58 (4) ◽  
pp. 24-28
Author(s):  
S. BAITUROVA ◽  
K. OMAROVA ◽  
R. BORANBAEVA ◽  
G. ABDILOVA ◽  
O. PANKOVA ◽  
...  

Relevance: M6 variant of acute myeloid leukemia is extremely rare in pediatric practice. The diverse clinical manifestations of erythroid leukemia complicate the timely diagnosis of this group of diseases. Purpose: to describe a clinical case of congenital erythroid leukemia with multiple lesions of soft tissues and the skeletal system with complications in the form of the convulsive disorder, presented as a tumor of the Ewing’s sarcoma family, diagnosed at the Research Center of Pediatrics and Pediatric Surgery (Almaty, the Republic of Kazakhstan). Results: The presented clinical case demonstrated challenges in diagnosing and treating young patients with multiple life-threatening tumor lesions. The need to develop molecular genetic studies and expand diagnostic capabilities is an integral part of treating oncohematological diseases. Conclusion: The presented clinical case is of great interest due to its rareness. This case confirms the need to conduct all diagnostic manipulations to assess the process prevalence and choose and conduct molecular genetic studies on all examination and treatment stages.

Author(s):  
Terezinha J. Marques Salles ◽  
Márcia B. Costa ◽  
Vera L. L. Morais ◽  
Romualdo J. Filho ◽  
Mario H. Magalhães ◽  
...  

2011 ◽  
Vol 126 (2) ◽  
pp. 76-78 ◽  
Author(s):  
Stephen V. Liu ◽  
Susan Zneimer ◽  
Amir Tahbaz ◽  
Dan Douer

Author(s):  
J. F. Lesesve ◽  
P. Schneider ◽  
I. Dolgopolov ◽  
C. Bastard ◽  
B. Lenormand ◽  
...  

2011 ◽  
Vol 29 (20) ◽  
pp. 2758-2765 ◽  
Author(s):  
Christoph Röllig ◽  
Martin Bornhäuser ◽  
Christian Thiede ◽  
Franziska Taube ◽  
Michael Kramer ◽  
...  

Purpose The current European LeukemiaNet (ELN) recommendations for acute myeloid leukemia (AML) propose a new risk reporting system, integrating molecular and cytogenetic factors and subdividing the large heterogenous group of intermediate-risk patients into intermediate-I (IR-I) and intermediate-II (IR-II). We assessed the prognostic value of the new risk classification in a large cohort of patients. Patients and Methods Complete data for classification were available for 1,557 of 1,862 patients treated in the AML96 trial. Patients were assigned to the proposed genetic groups from the ELN recommendations, and survival analyses were performed using the Kaplan-Meier method and log-rank test for significance testing. Results The median age of all patients was 67 years. With a median follow-up of 8.3 years, significant differences between all risk categories were observed in patients age ≤ 60 years regarding the time to relapse, relapse-free survival, and overall survival (OS). Patients in the IR-II group had a better prognosis than patients in the IR-I group. The median OS times in young patients with favorable risk (FR), IR-I, IR-II, and adverse risk (AR) were 5.3, 1.1, 1.6, and 0.5 years, respectively. Separate analyses in the age group older than 60 years revealed significant differences between FR, AR, and IR as a whole, but not between IR-I and IR-II. Conclusion In younger patients with AML, the ELN classification seems to be the best available framework for prognostic estimations to date. Caution is advised concerning its use for prospective treatment allocation before it has been prospectively validated. In elderly patients, alternative prognostic factors are desirable for further risk stratification of IR.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ismael F. Alarbeed ◽  
Abdulsamad Wafa ◽  
Faten Moassass ◽  
Bassel Al-Halabi ◽  
Walid Al-Achkar ◽  
...  

Abstract Background Approximately 30% of adult acute myeloid leukemia (AML) acquire within fms-like tyrosine kinase 3 gene (FLT3) internal tandem duplications (FLT3/ITDs) in their juxtamembrane domain (JMD). FLT3/ITDs range in size from three to hundreds of nucleotides, and confer an adverse prognosis. Studies on a possible relationship between of FLT3/ITDs length and clinical outcomes in those AML patients were inconclusive, yet. Case presentation Here we report a 54-year-old Arab male diagnosed with AML who had two FLT3-ITD mutations in addition to NPM1 mutation. Cytogenetic approaches (banding cytogenetics) and fluorescence in situ hybridization (FISH) using specific probes to detect translocations t(8;21), t(15;17), t(16;16), t(12;21), and deletion del(13q)) were applied to exclude chromosomal abnormalities. Molecular genetic approaches (polymerase chain reaction (PCR) and the Sanger sequencing) identified a yet unreported combination of two new mutations in FLT3-ITDs. The first mutation induced a frameshift in JMD, and the second led to a homozygous substitution of c.1836T>A (p.F612L) also in JMD. Additionally a NPM1 type A mutation was detected. The first chemotherapeutic treatment was successful, but 1 month after the initial diagnosis, the patient experienced a relapse and unfortunately died. Conclusions To the best of our knowledge, a combination of two FLT3-ITD mutations in JMD together with an NPM1 type A mutation were not previously reported in adult AML. Further studies are necessary to prove or rule out whether the size of these FLT3-ITDs mutations and potential other double mutations in FLT3-ITD are correlated with the observed adverse outcome.


2016 ◽  
Vol 29 (6) ◽  
pp. 411-418 ◽  
Author(s):  
Veronika Janečková ◽  
Lukáš Semerád ◽  
Ivana Ježíšková ◽  
Dana Dvořáková ◽  
Martin Čulen ◽  
...  

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