scholarly journals HAEMATOLOGICAL DISORDERS

2018 ◽  
Vol 25 (06) ◽  
Author(s):  
Muhammad Ihtesham Khan ◽  
Neelam Ahmad ◽  
Syeda Hina Fatima

Objectives: To analyse the pattern of hematological disorders through bonemarrow aspiration, and to compare the final diagnoses with their referral diagnoses made by thereferring physicians.Study Design: Cross sectional descriptive study. Period: 1st January -2016to 30th December-2016. Setting: Department of Pathology, Khyber Teaching Hospital, Peshawar.Materials and Methods: 352 patients were included in the study. Bone marrow diagnosiswas recorded. Data was analysed by SPSS version 18 and results were drawn accordingly.Results: A total of 352 patients underwent bone marrow aspiration during the study period.About 15 patients had diluted bone marrow aspirates. So, they were excluded from the study.The remaining 337 patients were included in the study. The age of the study sample rangedfrom 9 months to 72 years (mean age 36 years ±17.8 SD). There were 185 (55%) male and151 (45%) females. Male to female ratio was 1.2:1. The commonest indication for bone marrowaspiration was “suspected malignancy”, which was suspected in 114(33.85) patients, followedby “pancytopenia”, which was seen in 69(20.55%) patients. About 69 (20.5%) patients werereferred for work up of anemia. Bicytopenia was seen in 69(20.5%). The bone marrow aspirationshowed that megaloblastic anemia was the commonest disorder observed in 37(10%) cases.Second common disorder was acute lymphoblastic leukemia, that was seen in 31 (9%) patients,followed by acute myeloid leukemia, which was seen in 26(7.7%) cases. Hemolytic anemia wasseen in 20 (15.9%) cases. Aplastic anemia was seen in 18 (5.3%) cases. Multiple myeloma andmononuclear infiltration was seen in 17 (5%) patients each. Anemia of chronic disorder wasseen in 16(4.7%) cases. Idiopathic Thrombocytopenic Purpura was seen in 12 (3.6%) patients.Iron deficiencyanemia was seen in 11 (3.3%) patients. Chronic Lymphocytic Leukemia wasseen in 10 (2.9), Mixed deficiency anemia in 9 (2.7%), Myelodysplasia in 6 (1.7%), Malaria in5(1.5%), and Niemann Pick in 4 (1.2%) patients. Gaucher disease and Visceral Leishmania wasseen in 2 (0.6%) patients each. Histiocyticlymphohistiocytosis and Chediak Hegashi syndromewas seen in 1 (0.3%) patients each. Conclusions: Megaloblastic anemia, Acute LymphoblasticLeukemia, Acute Myeloid Leukemia, Hemolytic Anemia and Aplastic Anemia are the commonhematological disorders in our set up. Bone marrow is a reliable procedure to diagnosishematological diseases when routine investigations fail to make diagnosis.

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Rui R. He ◽  
Zacharia Nayer ◽  
Matthew Hogan ◽  
Raymund S. Cuevo ◽  
Kimberly Woodward ◽  
...  

The presence of KMT2A/AFF1 rearrangement in B-lymphoblastic leukemia (B-ALL) is an independent poor prognostic factor and has been associated with higher rate of treatment failure and higher risk of linage switch under therapy. Blinatumomab has shown promising therapeutic results in refractory or relapsed B-ALL; however, it has potential risk of inducing lineage switch, especially in KMT2A/AFF1 rearranged B-ALL into acute myeloid leukemia and/or myeloid sarcoma. We report a 40-year-old female with KMT2A/AFF1-rearranged B-ALL that was refractory to conventional chemotherapy. Following administration of blinatumomab, she developed a breast mass proven to be myeloid sarcoma, in addition to bone marrow involvement by AML. Approximately six weeks after cessation of blinatumomab, a repeat bone marrow examination revealed B/myeloid MPAL.


Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 345-345
Author(s):  
Yingwei Lin ◽  
Christopher Slape ◽  
Zhenhua Zhang ◽  
Peter D. Aplan

Abstract The NUP98 gene is located at chromosome 11p15 and encodes the 98 kd component of the nuclear pore complex; this protein normally functions as a docking protein involved in nucleocytoplasmic transport. NUP98 is fused to at least 15 different partner genes by chromosomal translocation in a wide spectrum of hematological malignancies including acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), chronic myelogenous leukemia (CML), and pre-T lymphoblastic leukemia (pre-T LBL). Over half of the known NUP98 gene fusions involve fusions to a HOX family member; these fusions invariably retain the amino terminal FG repeats of NUP98 and the homeodomain DNA-binding region of the HOX partner. The NUP98-HOXD13 fusion was initially identified in a patient with MDS that subsequently transformed to erythroleukemia, and has subsequently been identified in AML M1 and M2 patients as well. To model this disease in vivo, we generated transgenic mice which expressed the NUP98-HOXD13 (NHD13) fusion from vav regulatory elements. The NHD13 transgene is ubiquitously expressed in hematopoietic tissues such as thymus, spleen, and bone marrow, and is not expressed in other tissues. Serial CBCs from clinically healthy mice aged 4–7 months demonstrated a progressive neutropenia, lymphopenia, anemia, and macrocytosis. Peripheral blood smears showed signs of dysplasia including giant platelets and hypersegmented neutrophils; bone marrow exam showed an increase number of dysplastic binucleate erythroblasts and increased apoptosis, consistent with a diagnosis of MDS. 10/10 (100%) of the NHD13 mice died of hematologic disease by 14 months of age; in contrast, none of the non-transgenic control littermates developed evidence of hematologic disease. We classified the hematologic diseases according to the Bethesda proposals. Three mice died with MDS, two mice had pre-T LBL, two had acute undifferentiated leukemia, one had megakaryocytic leukemia, one had myeloid leukemia with maturation, and one had both pre-T LBL and erythroid leukemia. The malignant blasts from mice with pre-T LBL showed monoclonal T-cell receptor B gene rearrangements and were positive for CD3, 4, and 8. The mouse with megakaryocytic leukemia had serial CBCs documenting a platelet count of 3.2 million/uL, rising to >15million/uL at the time of death. This mouse had CD41+ megakaryocytes and megakaryoblasts invading the liver and spleen, and an osteosclerotic bone marrow reminiscent of chronic idiopathic myelofibrosis (CIMF). The mouse with concurrent pre-T LBL and erythroid leukemia had replacement of the thymus and infiltration of the lung with T-lymphoblasts which had a clonal TCRB gene rearrangement; interestingly, the spleen, liver, and bone marrow of this mouse were invaded with erythroblasts that were negative for CD3 and TCRB gene rearrangements. We conclude that the NHD13 transgene consistently induces an MDS, of variable severity, in these mice. Some mice die of severe anemia due to MDS, and MDS transforms into an acute non-lymphoid leukemia in other mice. Still other mice die of pre-T LBL which we believe evolves in the thymus separately from the MDS. These data demonstrate that the NHD13 fusion gene is transforming in both lymphoid and myeloid cells.


1999 ◽  
Vol 17 (5) ◽  
pp. 1545-1545 ◽  
Author(s):  
Franco Aversa ◽  
Adelmo Terenzi ◽  
Alessandra Carotti ◽  
Rita Felicini ◽  
Roberta Jacucci ◽  
...  

PURPOSE: To eliminate the risk of rejection and lower the risk of relapse after T-cell–depleted bone marrow transplants in acute leukemia patients, we enhanced pretransplant immunosuppression and myeloablation. PATIENTS AND METHODS: Antithymocyte globulin and thiotepa were added to standard total-body irradiation/cyclophosphamide conditioning. Donor bone marrows were depleted ex vivo of T lymphocytes by soybean agglutination and E-rosetting. This approach was tested in 54 consecutive patients with acute leukemia who received transplants from HLA-identical sibling donors or, in two cases, from family donors mismatched at D-DR. No posttransplant immunosuppressive treatment was given as graft-versus-host disease (GVHD) prophylaxis. RESULTS: Neither graft rejection nor GVHD occurred. Transplant-related deaths occurred in six (16.6%) of 36 patients in remission and in seven (38.8%) of 18 patients in relapse at the time of transplantation. The probability of relapse was .12 (95% confidence interval [CI], 0 to .19) for patients with acute myeloid leukemia and .28 (95% CI, .05 to .51) for patients with acute lymphoblastic leukemia who received transplants at the first or second remission. At a median follow-up of 6.9 years (minimum follow-up, 4.9 years), event-free survival for patients who received transplants while in remission was .74 (95% CI, .54 to .93) for acute myeloid leukemia patients and .59 (95% CI, .35 to .82) for acute lymphoblastic leukemia patients. All surviving patients have 100% performance status. CONCLUSION: Adding antithymocyte globulin and thiotepa to the conditioning regimen prevents rejection of extensively T-cell–depleted bone marrow. Even in the complete absence of GVHD, the leukemia relapse rate is not higher than in unmanipulated transplants.


2002 ◽  
Vol 20 (24) ◽  
pp. 4655-4664 ◽  
Author(s):  
O. Ringdén ◽  
M. Labopin ◽  
A. Bacigalupo ◽  
W. Arcese ◽  
U.W. Schaefer ◽  
...  

PURPOSE: Several studies show that allogeneic peripheral blood stem cells (PBSCs) engraft more rapidly than bone marrow (BM). However, the data are inconsistent with regard to acute and chronic graft-versus-host disease (GVHD), relapse, transplant-related mortality (TRM), and leukemia-free survival (LFS). PATIENTS AND METHODS: Between January 1994 and December 2000, 3,465 adult patients (older than 15 years of age) were reported to the European Group for Blood and Marrow Transplantation Registry from 224 centers. Among acute myeloid leukemia (AML) patients, 1,537 patients received BM and 757 patients received PBSC. In acute lymphoblastic leukemia (ALL) patients, the corresponding figures were 826 versus 345 patients who were analyzed for engraftment, GVHD, TRM, relapse, LFS, and survival. RESULTS: In multivariate analysis, the recovery of neutrophils and platelets was faster with PBSC than with BM (P < .0001). Chronic GVHD was associated with PBSC in patients with AML (relative risk [RR], 2.11; 95% confidence interval, 1.66 to 2.7; P < .0001) and ALL (RR, 1.56; 95% confidence interval, 1.09 to 2.27; P = .02). PBSC versus BM in patients with AML or ALL was not significantly associated with acute GVHD, TRM, relapse, survival, or LFS. In multivariate analysis of patients with AML, factors significantly associated with improved LFS included first remission at transplant (P < .0001), promyelocytic leukemia (M3) versus other French-American-British types (P < .0001), and donor age below median 37 years (P = .02). In patients with ALL, first remission (P < .0001) and methotrexate included in the immunosuppressive regimen (P = .001) were associated with improved LFS. CONCLUSION: Allogeneic PBSC results in faster neutrophil and platelet engraftment and a higher incidence of chronic GVHD than BM. However, acute GVHD, TRM, relapse, survival, and LFS were similar in patients receiving PBSCs versus BM.


2020 ◽  
Vol 4 (2) ◽  
pp. 274-286 ◽  
Author(s):  
Oscar Brück ◽  
Olli Dufva ◽  
Helena Hohtari ◽  
Sami Blom ◽  
Riku Turkki ◽  
...  

Abstract The immunologic microenvironment in various solid tumors is aberrant and correlates with clinical survival. Here, we present a comprehensive analysis of the immune environment of acute myeloid leukemia (AML) bone marrow (BM) at diagnosis. We compared the immunologic landscape of formalin-fixed paraffin-embedded BM trephine samples from AML (n = 69), chronic myeloid leukemia (CML; n = 56), and B-cell acute lymphoblastic leukemia (B-ALL) patients (n = 52) at diagnosis to controls (n = 12) with 30 immunophenotype markers using multiplex immunohistochemistry and computerized image analysis. We identified distinct immunologic profiles specific for leukemia subtypes and controls enabling accurate classification of AML (area under the curve [AUC] = 1.0), CML (AUC = 0.99), B-ALL (AUC = 0.96), and control subjects (AUC = 1.0). Interestingly, 2 major immunologic AML clusters differing in age, T-cell receptor clonality, and survival were discovered. A low proportion of regulatory T cells and pSTAT1+cMAF− monocytes were identified as novel biomarkers of superior event-free survival in intensively treated AML patients. Moreover, we demonstrated that AML BM and peripheral blood samples are dissimilar in terms of immune cell phenotypes. To conclude, our study shows that the immunologic landscape considerably varies by leukemia subtype suggesting disease-specific immunoregulation. Furthermore, the association of the AML immune microenvironment with clinical parameters suggests a rationale for including immunologic parameters to improve disease classification or even patient risk stratification.


Blood ◽  
2017 ◽  
Vol 129 (12) ◽  
pp. 1680-1684 ◽  
Author(s):  
Stephen Starko Francis ◽  
Amelia D. Wallace ◽  
George A. Wendt ◽  
Linlin Li ◽  
Fenyong Liu ◽  
...  

Key Points CMV is prevalent in pretreatment bone marrow from childhood ALL and not in acute myeloid leukemia. In utero infection with CMV is a risk factor for ALL (OR = 3.71, P = .0016) and is more pronounced in Hispanics (OR = 5.90, P = .006).


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