scholarly journals Cytogenetic abnormalities in patients with hematological malignancies in Lahore city, Pakistan

2023 ◽  
Vol 83 ◽  
Author(s):  
U. A. Awan ◽  
N. Farooq ◽  
A. Sarwar ◽  
H. M. S. Jehangir ◽  
M. S. Hashmi ◽  
...  

Abstract Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross-sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.

Blood ◽  
1990 ◽  
Vol 76 (12) ◽  
pp. 2565-2571 ◽  
Author(s):  
A Rambaldi ◽  
M Terao ◽  
S Bettoni ◽  
ML Tini ◽  
R Bassan ◽  
...  

Abstract The levels of leukocyte alkaline phosphatase (LAP) messenger RNA (mRNA) are evaluated in B and T lymphocytes, monocytes, and polymorphonuclear cells (PMNs), and this transcript is found to be present only in PMNs. Precursors of the myelomonocytic pathway, represented by leukemic cells isolated from several cases of chronic myelogenous leukemia (CML) in its stable and blastic phase and acute myelogenous leukemia (AML), are devoid of LAP transcript. These data support the notion that LAP is a marker of the granulocyte terminal differentiation. Despite the absence of LAP mRNA in both the myeloid and the lymphoid precursors, nuclear run-on experiments show constitutive transcription of the LAP gene in leukemic cells obtained from AML, CML, as well as acute lymphoblastic leukemia (ALL) and B-cell chronic lymphocytic leukemia (B-CLL). In CML and in chronic myelo-monocytic leukemia (CMML) PMNs, granulocyte colony- stimulating factor (G-CSF) specifically accumulates LAP mRNA without showing a substantial increase in the rate of transcription of the LAP gene. Once increased by G-CSF, LAP mRNA is very stable, showing a half- life of more than 4 hours in the presence of actinomycin-D. G-CSF is suggested to play a pivotal role in the modulation of LAP transcript in PMNs.


Author(s):  
Paul Takam Kamga ◽  
Riccardo Bazzoni ◽  
Giada Dal Collo ◽  
Adriana Cassaro ◽  
Ilaria Tanasi ◽  
...  

Notch and Wnt signaling are highly conserved intercellular communication pathways involved in developmental processes, such as hematopoiesis. Even though data from literature support a role for these two pathways in both physiological hematopoiesis and leukemia, there are still many controversies concerning the nature of their contribution. Early studies, strengthened by findings from T-cell acute lymphoblastic leukemia (T-ALL), have focused their investigation on the mutations in genes encoding for components of the pathways, with limited results except for B-cell chronic lymphocytic leukemia (CLL); in because in other leukemia the two pathways could be hyper-expressed without genetic abnormalities. As normal and malignant hematopoiesis require close and complex interactions between hematopoietic cells and specialized bone marrow (BM) niche cells, recent studies have focused on the role of Notch and Wnt signaling in the context of normal crosstalk between hematopoietic/leukemia cells and stromal components. Amongst the latter, mesenchymal stromal/stem cells (MSCs) play a pivotal role as multipotent non-hematopoietic cells capable of giving rise to most of the BM niche stromal cells, including fibroblasts, adipocytes, and osteocytes. Indeed, MSCs express and secrete a broad pattern of bioactive molecules, including Notch and Wnt molecules, that support all the phases of the hematopoiesis, including self-renewal, proliferation and differentiation. Herein, we provide an overview on recent advances on the contribution of MSC-derived Notch and Wnt signaling to hematopoiesis and leukemia development.


2021 ◽  
Vol 8 (11) ◽  
pp. 1842
Author(s):  
Naveen Gandla ◽  
Sheela A. Bharani ◽  
Tushar P. Shah

Background: In an era of advance science of modern technologies, many diseases are diagnosed and excluded rapidly and now Fever of Unknown Origin (FUO) has been redefined for any fever of 380C lasting for more than 7 days without any clear cause. The aetiology varies according to different geographical regions, socioeconomical status, age, prevalence of resistance to antimicrobial drugs and genetic susceptibility.Methods: It was a descriptive cross sectional, hospital-based study, carried out on 150 children from August 2018 to May 2020. All cases in the age group of 2 months to 18 years with fever of >38.0°C, lasting for more than 7 days without a clear source were included.Results: The mean age of presentation was 5.8 years±Standard Deviation of 3.7 years with male to female ratio was 1.4:1. Nearly half of the cases, presented with the duration of fever between 8-14 days. Enteric fever in 52%, tuberculosis in 13.3% and acute lymphoblastic leukemia (ALL) in 8.5% were three common etiologies found in this study. Amongst all cases of FUO, infective causes were seen in 113 (75.3%) followed by malignancies in 15(10%) cases. In 10 (6.7%) cases, cause could not be established.Conclusions: Enteric fever and tuberculosis were the leading etiologies from infective subgroup of FUO. ALL was the commonest cause from malignancies sub group. FUO presenting with low haemoglobin, platelet is a pointer towards malignancy. Occurrence of FUO with infectious diseases and malignancies was found in younger age group as compared to connective tissue diseases. 


Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 5337-5337 ◽  
Author(s):  
Zisis Kontoninas ◽  
Georgia D Kaiafa ◽  
Zoi Saouli ◽  
Christos G Savopoulos ◽  
Didangelos Triantafyllos ◽  
...  

Abstract Purpose: Τo estimate the incidence of abnormal values of tumor markers CA 15-3, CA125, CA19-9 and CEA at diagnosis and relapse/deterioration or remission of patients with hematological malignancies. Also, correlating them with the burden of disease at diagnosis and relapse/deterioration or remission of the above diseases. Material-methods: Studied 268 patients, aged 16-95 years, who suffered from 14 hematological malignancies: myelodysplastic syndromes (MDS), idiopathic thrombocytosis, polycythemia vera, primary myelofibrosis, chronic myelogenous leukemia (CML), Hodgkin's and Non- Hodgkin's(NHL) lymphomas, chronic lymphocytic leukemia (CLL), multiple myeloma (M.M.), acute myelogenous leukemia (AML), acute lymphocytic leukemia (ALL), mastocytosis, hairy cell leukemia and hypereosinophilic syndrome. Tumor markers were determined by electrochemiluminescence immunoassay method, based on the principle of double immunofluorescence conducted by analyzer Hitachi Modular E170, subunit Elecsys. Results: Tumor marker CA15-3 showed pathological values at diagnosis of hematological malignancies, except MDS and AML, which correlate with high disease burden at diagnosis of essential thrombocytosis(p <0,05), polycythemia vera(p <0.05) and NHL(p <0,001). Tumor marker CA125 had abnormal values at diagnosis of NHL and M.M, which correlate with high disease burden at diagnosis of NHL(p <0,01). CA19-9 and CEA showed no pathological values at diagnosis of hematological malignancies. CA15-3 showed pathological values at relapse/ deterioration of hematological malignancies, except for AML and ALL. These values correlate with the degree of relapse/deterioration of MDS(p <0,001), idiopathic thrombocytosis(p <0,01), lymphoma Hodgkin's(p <0,05), NHL(p <0,001) and CLL (p <0,01). CA125 showed pathological values at relapse/deterioration of M.M, NHL and CLL. These values correlate with the degree of relapse/deterioration of NHL(p <0,01) and CLL(p <0,05). CEA had pathological values at relapse/deterioration of M.M. CA19-9 had no significant findings at relapse/deterioration of hematological malignancies. Pathological values of CA15-3 decreased to normal levels during the remission of hematological malignancies, apart from MDS, primary myelofibrosis and AML. Decline of these values correlate with the degree of remission of Hodgkin's lymphomas(p <0,05), NHL(p <0,001), CLL(p <0,01) and idiopathic thrombocytosis (p <0,01). Pathological values of CA125 decreased to normal levels during the remission of M.M, NHL and CLL. Decline of these values correlate with the degree of remission of NHL(p <0,01) and CLL(p <0,05). CA19-9 and CEA had no significant findings at remission of hematological malignancies. Conclusions: CA15-3 is a surrogate marker at diagnosis of hematological malignancies, other than MDS and AML. It can determine relapse/deterioration or remission in idiopathic thrombocytosis, MDS, NHL, Hodgkin's lymphomas and CLL. CA125 is a surrogate marker at diagnosis of NHL and M.M. It can determine relapse/deterioration or remission in NHL and CLL. CEA can help detect relapse/ deterioration in M.M. CA19-9 has no value in diagnosing and monitoring of hematological malignancies. Further studies in this area will likely bring new knowledge about tumor markers and their utility in current practice. Disclosures No relevant conflicts of interest to declare.


Blood ◽  
1964 ◽  
Vol 23 (2) ◽  
pp. 239-249 ◽  
Author(s):  
WILLIAM R. BRONSON ◽  
MARY H. MCGINNISS ◽  
EDWARD E. MORSE

Abstract A change in blood group was discovered in a group O boy with acute lymphocytic leukemia. Fifty-six per cent of his red cells were of group AB 6 weeks after he received white cell-rich plasma from a group AB donor with chronic myelogenous leukemia. It is concluded that hematopoietic cells in the peripheral blood of the donor survived and divided in the recipient, and were then rejected 6 weeks after transfusion. Factors favoring the acceptance of the graft, consideration of the type of cell or cells that proliferated, and the relation of this finding to recently published reports of survival of cells containing the Ph1 chromosome are discussed.


Author(s):  
M.J. Ahearn ◽  
G.S. Yee ◽  
J.M. Trujillo

Intranuclear "mitochondrion-like" bodies have been described in the neoplastic cells of both the Sezary syndrome and mycosis fungoides. (2) These cytoplasmic structures are hypothesized to be trapped in the nucleus during mitotic division and to represent another example of the abnormalities of the Sezary cell.We have recently observed identical nuclear inclusions in lymphoblasts from pediatric acute lymphocytic leukemia (ALL) patients, Figs. 1 and 2. In each instance, the malignant cells represent an abnormal variant of thymus-derived lymphocytes. They display a common feature in the pronounced maturation asynchrony between the nucleus and the cytoplasm. Our continuing studies of ALL blasts have revealed the presence of an apparent longitudinal and cross-sectional presentation of the "mitochondrionlike" body, Fig. 3. In this conformation, the similarity between the structure's outer membranes and the double-walled nuclear membrane becomes apparent.


2020 ◽  
Vol 23 (4) ◽  
pp. 295-303
Author(s):  
Jing Lu ◽  
YuHang Zhang ◽  
ShaoPeng Wang ◽  
Yi Bi ◽  
Tao Huang ◽  
...  

Aim and Objective: Leukemia is the second common blood cancer after lymphoma, and its incidence rate has an increasing trend in recent years. Leukemia can be classified into four types: acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), chronic lymphocytic leukemia (CLL), and chronic myelogenous leukemia (CML). More than forty drugs are applicable to different types of leukemia based on the discrepant pathogenesis. Therefore, the identification of specific drug-targeted biological processes and pathways is helpful to determinate the underlying pathogenesis among such four types of leukemia. Methods: In this study, the gene ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways that were highly related to drugs for leukemia were investigated for the first time. The enrichment scores for associated GO terms and KEGG pathways were calculated to evaluate the drugs and leukemia. The feature selection method, minimum redundancy maximum relevance (mRMR), was used to analyze and identify important GO terms and KEGG pathways. Results: Twenty Go terms and two KEGG pathways with high scores have all been confirmed to effectively distinguish four types of leukemia. Conclusion: This analysis may provide a useful tool for the discrepant pathogenesis and drug design of different types of leukemia.


Blood ◽  
1983 ◽  
Vol 61 (3) ◽  
pp. 429-434 ◽  
Author(s):  
M Peracchi ◽  
L Lombardi ◽  
AT Maiolo ◽  
F Bamonti-Catena ◽  
V Toschi ◽  
...  

Abstract Plasma and urine levels of cyclic adenosine 3′,5′-monophosphate (cAMP) and of cyclic guanosine 3′,5′-monophosphate (cGMP) were measured in 35 normal subjects, in 24 patients with nonneoplastic diseases (iron deficiency anemia, peptic ulcer, and cholelithiasis), and in 50 leukemic patients. The leukemic group included patients with acute lymphoblastic leukemia, acute myelogenous leukemia, chronic lymphocytic leukemia, and chronic myelogenous leukemia. All patients were recently diagnosed and untreated, except for 5 patients with blastic transformation of chronic myelogenous leukemia who had been previously treated. There were no significant differences in plasma and urine cyclic nucleotide levels between normal subjects and patients with nonneoplastic diseases. In leukemic patients, plasma and urine cAMP levels were similar to those of normal subjects, whereas plasma and urine cGMP levels were markedly elevated. There were no significant differences in cGMP values between the various types of leukemia. After starting treatment, plasma cyclic nucleotide levels were periodically measured in 21 of the patients with acute leukemia; cGMP levels were normalized in all the 16 subjects who attained complete remission, whereas both cAMP and cGMP levels were apparently unaffected in the patients who did not respond to treatment. This suggests that plasma or urine cGMP could be used as an additional parameter to monitor the patient's response to treatment.


Author(s):  
Maja Ptasiewicz ◽  
Paweł Maksymiuk ◽  
Renata Chałas

A number of systemic diseases including hematological disorders have manifestations in the oral cavity region. These manifestations may often represent early signs of the underlying hematopoietic disease and occur frequently in leukemia. Despite the fact that leukemia has long been known to be associated with oral health deterioration, the available literature on this topic consists mostly of case reports, without data to conclude these. The aim of the study was to assess dentition state in leukemic patients during one cycle of chemotherapy and its correlation with blood parameters. The study included 102 adults treated because of leukemia at the Clinic of Haemato-Oncology and Bone Marrow Transplantation at the university hospital in Lublin, Poland. The sample group consisted of 51 women and 51 men aged 22 to 72 (54.07 ± 10.33) with following diagnoses: Acute myelogenous leukemia (AML)—55 patients (53.92%), Chronic lymphocytic leukemia (CLL)—17 patients (16.67%), Acute lymphoblastic leukemia (ALL)—16 patients (15.69%), Chronic myelogenous leukemia (CML)—10 patients (9.80%), Acute promyelocytic leukemia (APL) —3 patients (2.94%), Chronic hairy cell leukemia (HCL)—1 patient (0.98%). DMFT index was used to assess dentition state. After the cycle of chemotherapy, their dentition state changed in terms of decayed, missing and filled teeth and correlated with hematological parameters. Adult patients with leukemia have high dental treatment needs, and high number of missing teeth; thus, a comprehensive and fast dental treatment is necessary to avoid systemic complications and ensure better quality of life.


Blood ◽  
1990 ◽  
Vol 76 (12) ◽  
pp. 2565-2571 ◽  
Author(s):  
A Rambaldi ◽  
M Terao ◽  
S Bettoni ◽  
ML Tini ◽  
R Bassan ◽  
...  

The levels of leukocyte alkaline phosphatase (LAP) messenger RNA (mRNA) are evaluated in B and T lymphocytes, monocytes, and polymorphonuclear cells (PMNs), and this transcript is found to be present only in PMNs. Precursors of the myelomonocytic pathway, represented by leukemic cells isolated from several cases of chronic myelogenous leukemia (CML) in its stable and blastic phase and acute myelogenous leukemia (AML), are devoid of LAP transcript. These data support the notion that LAP is a marker of the granulocyte terminal differentiation. Despite the absence of LAP mRNA in both the myeloid and the lymphoid precursors, nuclear run-on experiments show constitutive transcription of the LAP gene in leukemic cells obtained from AML, CML, as well as acute lymphoblastic leukemia (ALL) and B-cell chronic lymphocytic leukemia (B-CLL). In CML and in chronic myelo-monocytic leukemia (CMML) PMNs, granulocyte colony- stimulating factor (G-CSF) specifically accumulates LAP mRNA without showing a substantial increase in the rate of transcription of the LAP gene. Once increased by G-CSF, LAP mRNA is very stable, showing a half- life of more than 4 hours in the presence of actinomycin-D. G-CSF is suggested to play a pivotal role in the modulation of LAP transcript in PMNs.


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