scholarly journals Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
M. Z. Rahman ◽  
L. Nishat ◽  
Z. A. Yesmin ◽  
L. A. Banu

With the advancement of medical genetics, particular emphasis is given on the genetic counseling worldwide. In Bangladesh, genetic counseling services are not yet developed. Acute myeloid leukemia (AML) is a malignant disease of the myeloid cells of bone marrow. Like other malignant diseases, it may result from a mutation in the DNA. A genetic counseling format will educate the AML patients and provide appropriate medical and emotional support. The aim of this descriptive cross-sectional study was to develop a genetic counseling format for adult Bangladeshi patients with AML. Taking this into account, a draft format was prepared by reviewing relevant documents available online which was later analyzed by an expert panel through a group discussion and thus a proposed format was developed. To make the format effective in the perspective of Bangladeshi population, the proposed format was applied in counseling, and thus a final format was developed in the English language. This format will educate the counselors, clinicians, and patients about the utility and importance of the genetic counseling and genetic tests. Also, the patients feel comfort regarding the whole counseling process and going for postcounseling treatments and advice. Though it is written in English, it may be translated into mother tongue for better communication during counseling.

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 1170
Author(s):  
Enass Abdul Kareem Dagher Al-Saadi ◽  
Marwa Ali Abdulnabi ◽  
Faris Hanoon Jaafar

Background: Acute leukemias (ALs) are a heterogeneous group of malignancies with various clinical, morphological, immunophenotypic, and molecular characteristics. Distinguishing between lymphoid and myeloid leukemia is often performed by flow cytometry. This study aimed to evaluate the immunophenotypic characterization and expression of immuno-markers in both acute myeloid leukemia (AML-M0) and acute T-cell lymphoblastic leukemia (T-ALL). Methods: A retrospective cross-sectional study was conducted in the Pathology Department/Teaching Laboratories/Medical City/Iraq and included all patients newly diagnosed with AL from 5 January to 10 December 2018. Immunophenotypic analysis was performed on bone marrow samples, freshly collected in EDTA tubes. Flow cytometry (Canto-2 BD) was used, with laser excitation of blue and red wavelengths. A panel of monoclonal antibodies (MoAbs) was used for diagnosis, using a SSC/CD45 gating strategy. Results: The study showed 41.6% of AML-M0 patients had no aberrant antigen expression, while 33.3%, 16.6%,  8.3%, and 8.3% had aberrant CD7, CD56, CD2, and CD19, respectively. In 16.6% of AML-M0 cases more than one aberrant antigen was expressed. With regard to T-ALL, 7.0% were pro-T type, 58.0% were pre-T, 13.0% were cortical, and 22.0% were mature-T type. In 55.5% of patients with T-ALL there was no aberrant antigen expression. Conclusion: We concluded that most patients with AML-M0 have no aberrant antigen expression. In patients with T-ALL, the pre-T type is most common, according to the European Group for the Immunological Classification of Leukemias (EGIL) classification. Patients with T-ALL also generally lack aberrant antigen expression.


2021 ◽  
Vol 14 (2) ◽  
pp. 181-184
Author(s):  
Eman Ali Elzain ◽  
Hiba BadrEldin Khalil

Acute myeloid leukemia (AML) is a malignancy of proliferative, clonal, abnormally differentiated cells of the hematopoietic system, described byevolution and genetic heterogeneity. Molecular genetics of AML regarding the prognosis of patients primarily representing by NPM1. NPM1 is a nucleolar protein that placed on chromosome 5q35.1 which transported between the nucleus and cytoplasm. It is concerned in multiple functions, including ribosomal protein assembly and transport, control of centrosome duplication, and regulation of the tumor suppressor ARF & p53. NPM1 mutations that relocalize NPM1 from the nucleus into the cytoplasm are associated with development of acute myeloid leukemia. The aim of this study was to determine the frequency and shed light on the prognostic value of NPM1 mutations among Sudanese patients with acute myeloid leukemia. A cross sectional study recruited 100 patients in this study clinically diagnosed firstly (not transformed from any other malignancy) as AML patients based on the diagnostic protocol concern radioisotopecentre of Khartoum (RICK) hospital; such as morphological identification, immunophenotyping analysis, and molecular genetics, Of the 100 AML patients, 54% were newly diagnosed and 46% were admitted by chemotherapy treatment and follow up. EDTA blood or bone marrow samples were collected from patients for performing CBC, hematological studies including FAB classification, PCR protocols and sequencing. Genomic DNA was extracted from all samples using guanidine method. NPM1 mutations detection, sequencing technique was done, then sequencing analysis by software (Mega 7 Software) revealed that there were no NPM1mutations in Sudanese AML patients. The Sudanese AML patients carry wild type NPM1.


2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Woldeteklehaymanot Kassahun ◽  
Girum Tesfaye ◽  
Lealem Gedefaw Bimerew ◽  
Diriba Fufa ◽  
Wondimagen Adissu ◽  
...  

Introduction. Leukemia is a heterogeneous group of hematological disorder which comprise several diverse and biologically distinct subgroups. Leukemia represents the 11th and 10th most frequent cause of cancer morbidity and mortality worldwide, respectively. Adequate data regarding the prevalence of leukemia are lacking in Ethiopia, particularly in the study area. This study is aimed to determine the prevalence of leukemia and associated factors among patients who have abnormal hematological parameters in Jimma Medical Center. Methodology. A facility-based cross-sectional study was conducted involving 332 patients who have abnormal hematological parameters. Complete blood count from venous blood was made with Sysmex autohematology analyzer (Sysmex XS-500i and XT-1800; Kobe, Japan). Peripheral blood morphology and bone marrow aspirate examination were done for each patient. Descriptive statistics for the prevalence of leukemia and multinomial logistic regression analysis to assess associated factors were executed with IBM SPSS version 25. Results. The prevalence of leukemia was 9.3%, while acute myeloid leukemia, Acute Lymphoid Leukemia, Chronic Myeloid Leukemia, Chronic Lymphoid Leukemia, Myelodysplastic Syndrome, and undifferentiated leukemia comprises 3.6%, 2.7%, 1.8%, 0.6%, and 0.3%, respectively. Older Age ( p = 0.019 ), being male ( p = 0.047 ), being anemic ( p = 0.03 ), and rural residency of a patient ( p = 0.044 ) were significantly associated with having acute myeloid leukemia. Conclusion. The prevalence of leukemia among patients who have abnormal hematological parameters in Jimma Medical Center is significant which needs further comprehensive investigations of the associated factors and predictors with more up to date diagnostic methods.


2018 ◽  
Vol 35 (11) ◽  
Author(s):  
Tarcila Santos Datoguia ◽  
Elvira Deolinda Rodrigues Pereira Velloso ◽  
Ricardo Helman ◽  
Juliane Garcez Musacchio ◽  
Marco Aurélio Salvino ◽  
...  

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e18528-e18528
Author(s):  
Sarah A. Buckley ◽  
Diana Jimenez-Sahagun ◽  
Megan Othus ◽  
Roland B. Walter ◽  
Stephanie Lee

e18528 Background: There is growing interest in quantifying quality of life (QOL) effects of acute myeloid leukemia (AML) therapy. As there are no AML-specific QOL instruments available, we conducted a cross-sectional study to elicit concepts for the development of such an instrument, the AML-QOL. Methods: Adults with AML at various time points during the course of participated in an open-ended interview and completed the FACT-G, -LEU, -BMT and the PROMIS-29 questionnaires in order to elicit concepts impacting QOL. In addition, patients were asked to quantify the degree to which each impacted their QOL on a 3-point scale (little, some, large impact). Positive concepts (i.e., sources of support) were included in the AML-QOL based on prevalence; negative concepts were included based on both prevalence and the percent of cases in which the concept had high impact on QOL. Results: Among 82 patients, commonly described positive concepts were family support (85%), maintaining a positive attitude (63%), friends or community (52%), and trust in the medical team (52%). Negative concepts with the highest prevalence and impact product are shown in the Table. After completing FACT and PROMIS, 22% of patients reported confusion with items querying functional status because of ambiguity between temporary functional restrictions (e.g., inability because of an inpatient stay) and functional limitations (e.g., inability due to weakness). Conclusions: Our interviews identified concepts most important to patients during AML therapy and allowed development of a 40-item survey that is now undergoing validation. [Table: see text]


2020 ◽  
Author(s):  
Eman Ali Elzain ◽  
Hiba BadrEldin Khalil

AbstractIntroductionAcute myeloid leukemia (AML) is a malignancy of proliferative, clonal, abnormally, or poorly differentiated cells of the hematopoietic system, characterized by clonal evolution and genetic heterogeneity (Döhner et al, 2015). The molecular genetics of AML regarding the prognosis of patients mainly representing by NPM1. NPM1 is a nucleolar protein that located on chromosome 5q35.1 which shuttles between the nucleus and cytoplasm. It is concerned in multiple functions, including ribosomal protein assembly and transport, control of centrosome duplication, and regulation of the tumor suppressor ARF & p53. NPM1 mutations that relocalize NPM1 from the nucleus into the cytoplasm are associated with development of acute myeloid leukemia (Garzon et al, 2008). The aim of this study was to determine the frequency and clarify the prognostic value of NPM1 mutations among Sudanese patients with acute myeloid leukemia.Materials and MethodsA cross sectional study recruited 100 patients in this study clinically diagnosed firstly (not transformed from any other malignancy) as AML patients based on the diagnostic protocol concern RICK hospital; such as morphological identification, immunophenotyping analysis, and molecular genetics, Of the 100 AML patients, 54% were newly diagnosed and 46% were admitted by chemotherapy treatment and follow up. EDTA blood or bone marrow samples were collected from patients for performing CBC, hematological studies including FAB classification, PCR protocols and sequencing. genomic DNA was extracted from all samples using guanidine method (Ding et al, 2008).ResultsNPM1 mutations detection, sequencing technique was done, and then sequencing analysis by software (Mega 7 Software) (Kumar et al, 2016) revealed that there were no NPM1mutations in Sudanese AML patients.ConclusionThe Sudanese AML patients carry wild type NPM1.


2018 ◽  
Vol 5 (2) ◽  
pp. 361
Author(s):  
Suresh Kumar Aparna ◽  
Murugesan Sharmila

Background: Acute myeloid leukemia (AML) is a heterogeneous disease, associated with a high diversity of phenotypes. The study was done with the aim to study about the aberrant phenotypes in acute myeloid leukemia cases and the correlation among the aberrant phenotypes and poor prognostic factors in acute myeloid leukemia.Methods: This cross sectional study was conducted on 35 cases of newly diagnosed AML according to the selection criteria at Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai for a period of 6 months. Immunophenotyping analysis by flow cytometry was done on fresh bone marrow aspirate or peripheral blood sample by applying Acute Leukemia Panel. The co-expression of different antigen markers on lymphocytes was analyzed.Results: Aberrant lymphoid markers were seen in 17 (49%) cases. 5 (14%) cases had lymphoid associated antigen expression alone. 3 (8%) cases had asynchronous antigen expression alone. 9 (27%) cases had both asynchronous antigen expression and lymphoid associated antigen expression which is of cases . In total, lymphoid associated antigen expression is seen in 41% of cases and asynchronous antigen expression in 35% of cases. CD3, CD19 (lymphoid associated antigen) and CD34+ CD15+ (asynchronous aberrant phenotype) were the most common equally expressed aberrant phenotypes, each in 7 cases. CD 3 was significantly more common in males (P=0.021) but in general there were no statistically significant association between adverse prognostic factors and aberrant phenotypic AML.Conclusions: CD19 and CD3 were the most commonly expressed lymphoid associated antigen. Most common asynchronous aberrant phenotype was CD34+CD15+. None of the aberrant phenotypic expression was not associated with poor risk factors in acute myeloid leukemia except for common expression of CD3 in males.


2019 ◽  
Vol 35 (5) ◽  
pp. 927-935 ◽  
Author(s):  
Bruno C. Medeiros ◽  
Bhavik J. Pandya ◽  
Anna Hadfield ◽  
James Pike ◽  
Samuel Wilson ◽  
...  

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