Haematological & molecular profile of acute myelogenous leukaemia in India (original) (raw)
Related papers
Incidence of structural chromosomal anomalies in patients of acute myeloid leukemia in North Indians
IP Innovative Publication Pvt. Ltd., 2019
Introduction: Acute myeloid leukemia (AML) is a tumor of hematopoietic progenitors caused by acquired oncogenic mutations that impede differentiation, leading to the accumulation of immature myeloid blasts in the marrow. The single most important prognostic factor in AML is cytogenetics, which determine the prognosis and probability of relapse after treatment. Hence the cytogenetic analysis of AML patients plays a great role in prognosis and treatment. Materials and Methods: Karyogram of diagnosed patients of AML was prepared from bone marrow and peripheral blood. This study was conducted in the Cytogenetic Laboratory of the Department of Anatomy, King George’s Medical University, UP, Lucknow. Patients were screened in the Department of Pediatrics Medicine and the samples were collected from there. Observations and Results: We observed the frequency of chromosomal aberrations in different age groups and sex. Out of 22 successful cases 12 cases (54.54%) exhibited abnormal karyogram and 10 cases (45.45%) showed normal karyogram. Among total 22 cases, structural chromosomal abnormalities were observed in 11 cases (50%). Translocation was present in 9 cases (40.90%), p-arm abnormality on chromosome 19 (add 19p) was present in 1 case (4.54%) and q-arm abnormality on chromosome 16 (del 16q) was present in 1 case (4.54%). Discussion and Conclusion: Translocation was found to be the most common structural anomaly in AML. We observed translocation t(8;21) in 9.09% cases. Other translocation was t(9;22) which was found in 9.09% cases.t(9;11) was observed in 9.09% cases in our study. t(15;17) was noted in 4.54% case which was also noted by previous authors. In AML t(8;21), t(15;17), inv(16) has good prognosis, intermediate prognosis is seen in abnormal 11q23, while del5q), abnormal 3q, complex cytogenetic had poor prognosis. Keywords: Acute myeloid leukemia (AML), Karyogram, Chromosomal aberrations, Anomalies, Translocation
Haematology Journal of Bangladesh
Background: Cytogenetic analysis performed at diagnosis is considered to be the most important prognostic factor in AML. Objective: The purpose of this study was to observe the pattern of cytogenetic abnormalities in adult patients with de novo AML. Method: Total fifty-two newly diagnosed de novo AML patients were selected for the study. Six cytogenetic abnormalities including t(8;21), t(15;17), inv(16), BCR-ABL1, FLT3-ITD & NPM1 mutations were detected by Real-Time PCR. Results: In this study, 36 (69.2%) patients showed different cytogenetic abnormalities. The t(15;17) was found to be the most common. t(15;17), t(8;21) and inv(16) were found only in M3, M2 and M4 FAB subtypes, respectively. Significant association was found with increasing age and cytogenetic risk groups. BCR-ABL1 mutation showed significant relation with increased age. FLT3-ITD mutation showed significant association with increased WBC count and inv16 was significantly associated with relatively less bone marrow b...
International journal for research in applied sciences and biotechnology, 2020
Acute myeloid leukaemia (AML) is a highly malignant clonal hematopoietic disease caused by both inherited and acquired genetic alterations. Current AML classification and prognostic systems incorporate genetic information but are limited to known abnormalities that have previously been identified with the use of cytogenetics, array comparative genomic hybridization (CGH), gene-expression profiling, and the resequencing of candidate genes. At diagnosis, most patients with AML harbour at least 1 chromosome aberration in their marrow blasts. With the targeted cytogenetic therapy, 30% of the patients achieve long-term cure. At University Teaching Hospital(UTH) however, the current diagnostic approach of acute leukaemia involves mainly cytomorphology and occasional flow cytometry. The cytomorphological blast characterization is not enough to provide a critical determination of prognosis and developing a treatment plan. Most of the AML patients at UTH die within few months after diagnosis despite being put on chemotherapy. To characterize AML according to WHO 2008 revised classification in patients at the University Teaching Hospital. This was a descriptive cross-sectional study conducted to characterize acute myeloid leukaemia (AML) according to WHO 2008 revised classification in patients at the UTH. Patients with AML were simultaneously analyzed for the presence of 4 genetic abnormalities, PML/RARα for t(15;17), AML1/ETO for t(8;21), CBFβ/MYH11 for inv(16)/t(16;16) and rearrangements of the MLL gene for 11q23 abnormalities. AML was classified using the new World Health Organization (WHO) classification for haematologic malignancies. The techniques used were standardized according to the recommendations of the European BIOMED-1 Concerted Action. The overall frequency of leukemia displaying one of the four recurrent cytogenetic translocations were 13 cases (46.5%) of which PML/RARα transcript was present in six(6) patients (21.4%) (3 were bcr1, 1 bcr2 and 2 bcr3). The AML1/ETO fusion transcript was detected in only one(1) case (3.6%) with M2 morphology, but other cases with M2 morphology were negative. CBFβ/MYH11 transcript was present in 2 cases (7.1%) and some of them displaying M4Eo morphology. Finally, 4 cases (14.3%) showed rearrangements of the MLL gene. By contrast, the frequency of AML not otherwise characterized which was 15 cases (53.6%) increased with age (13% for 6-35years age group, 20% for 36-65years age group and 67% for above 66years age group). Our results differ from those reported from the United States and North/Central Europe, particularly regarding the incidence of t(15;17) and t(8;21) translocations. In Zambia the frequency of t(15;17) is higher while that of t(8;21) is lower. This supports the view that geographic variations in tumor-associated aberrations in hematologic malignancies exist. Our study showed that chromosomal alteration PML/RAR t(15,17) which was 21.4% ,was the commonest, whereas AML1/ETO t(8,21) which was 3.6%,was the least common among patients presenting at UTH, Lusaka, Zambia. Our study showed that
Asia-Pacific Journal …, 2004
The translocation (8;21)(q22;22) is one of the most common chromosomal aberrations seen in patients with acute myeloid leukaemia (AML), occuring in the frequency of 7 to 12 % of cases . The t(8; 21) results in the formation of a chimeric AML1/ETO transcript. The aim of this study was to detect AML1/ETO fusion transcript in patients with AML diagnosed in Universiti Sains Malaysia Hospital. RNA from 24 whole blood samples were extracted from these patients and subjected to RT-PCR using specific primers for AML1 and ETO genes. Four of these patients (16.7%) were found to have AML1/ETO fusion transcript. Morphologically 3 of them were classified as AML-M2 (FAB classification) and 1 was classified as AML-M1. Only one of those positive samples was sent for cytogenetic analysis and was found to have t (8;21). All 3 patients with AML-M2 had aberrant expression of CD19. Thus, RT-PCR detection of AML1/ETO may identify a subgroup of AML patients who carry a better prognosis.
American Journal of Hematology, 2005
Translocation 11q23 and MLL gene rearrangements are commonly observed in acute myeloid leukemia (AML) in association with the myelomonocytic or monocytic feature. We describe a case involving a 15-year-old patient with AML characterized by leukemic cells exhibiting translocation (11;17)(q23;q12–21) and MLL gene rearrangement. No fusion partner gene of the MLL gene was identified, including RARα(17q12) or AF17 (17q21); however, a partial tandem duplication of the MLL exon 11/exon 10 was detected in leukemic cells via a 3′RACE method for detection of unknown partner genes. The patient has been in remission for more than 2 years without hematopoietic stem cell transplantation. Am. J. Hematol. 80:46–49, 2005. © 2005 Wiley-Liss, Inc.
British Journal of Haematology, 2001
Demonstration of either the translocation t(15;17)(q22;q21) or the fusion of PML and RARa genes is regarded as diagnostic for acute myeloid leukaemia (AML) of FAB type M3, but has occasionally been seen in other FAB types. We present two such cases. Case 1 presented with FAB type M6 and a complex karyotype involving chromosomes 1, 2, 11 and 17. Bone marrow relapse of FAB type M3 followed autologous bone marrow transplantation. Subsequent marrow dysplasia and an M6 relapse were accompanied by a new cytogenetic clone involving chromosomes X, 2, 4, 6, 7 and 16. Fluorescence in situ hybridization (FISH) of metaphase chromosomes at diagnosis showed insertion of material from chromosome 17 into a`normal' 15 with juxtaposition of PML and RARa . Case 2 presented as AML M4 and relapsed as M3. Cytogenetic analysis at diagnosis and in relapse showed 46,XY,t(15;17)(q22;q11),del(16)(q22). FISH analysis showed this to be a three-way translocation involving chromosomes 15, 16 and 17 again with juxtaposition of PML and RARa . Reverse transcription-polymerase chain reaction (RT-PCR) revealed PML/RARa fusion at diagnosis, in remission and in first relapse. These examples strengthen the case for RT-PCR screening of all AML patients for these fusion genes.
CYTOLOGIA, 2004
Chromosomal abnormalities in 55 AML patients from Orissa (India) were studied. Of them, 12 patients had only abnormal metaphases (AA), 41 patients had both normal and abnormal metaphases (AN) and the rest 2 patients exhibited only normal metaphases (NN). Basing on the number of chromosome all the patients were classified into 5 subgroups like (1) normal diploidy with 46 chromosomes in 2 patients, (2) pseudodiploidy group with 46 chromosomes and some structural abnormalities in 4 patients, (3) hypodiploid group with Ͻ46 chromosomes in 37 patients, (4) hyperdiploidy-A group with 47 to 50 chromosomes in 8 patients and hyperdiploidy-B group with Ͼ50 chromosomes in 4 patients. Primary translocations like t(8, 21), t(1, 14), t(9, 22) were detected in 8, 1 and 7 patients respectively. In addition, secondary aberrations were also observed in 36 patients. These secondary aberrations were mostly unstable and nonclonal ones which were present singly or in various combinations. Maximum number of patients achieved complete remmission (CR) from AN subgroup (46.3%) hyperdiploidy-B group (100%), patients with t(8; 21) translocation (75%), patients with trisomy 22 and patients with no secondary aberrations. This study suggests that hyperdiploidy, t(8, 21), trisomy 8, presence of both normal and abnormal metaphases and absence of secondary aberrations are the favourable prognosticators while presence of only abnormal metaphases, presence of more than one secondary aberration, t(9, 22) translocation, hypodiploidy and monosomy 7 are unfavourable prognosticators. Key words Chromosome, Acute myeloid leukemia, Prognosis. Association of acquired clonal chromosomal abnormalities with the malignant cells of patients with leukemia, lymphoma and solid tumours has almost conclusively been established (Le Beau and Larson 1994, Heim and Mitelman 1995a, b). Morphologically and clinically distinct subsets of leukemia are found to have a number of specific chromosomal abnormalities (Rowley 1990, Le Beau 1997, Sato and Rowley 1998). So far 200 structural rearrangements as well as a number of numerical changes in the neoplastic cells have been reported (Sandberg 1990, Mitelman et al. 1994, Rabbits 1994, Heim and Mitelman 1995b). While carcinomas only represent approximately 27% of the karyotypic data, over 80 to 90% of leukemias have an abnormal karyotype (Le Beau 1997). Again, approximately 80% of patients with de novo acute myeloid leukemia (AML) are reported to have an abnormal karyotype (
Turk patoloji dergisi, 2017
Molecular genetic analysis of FLT3, NPM1, and CEBPA is already the standard of care in patients with acute myeloid leukaemia (AML) and represents the most frequent genetic alterations and important diagnostic and prognostic indicators. This study was undertaken to determine the frequency of FLT3 and NPM1 gene mutations in our institution and to characterize the association between gene mutations and haematological parameters as well as immunophenotypic features. Morphological, haematological and immunophenotypic characteristics of NPM1 and FLT3 mutations in 126 patients of de novo AML including adults and children were studied. Apart from the French American British (FAB) method for classification, blasts were assessed for cuplike morphology as per strict definition for cuplike nuclei, ≥10% blasts with nuclear invaginations ≥25% of the nuclear area. FLT3 mutation in 31/126 (25%) and NPM1 mutation was found in 17/126 (13.4%) of the AML patients. 6 (5%) samples were positive for both ...