scholarly journals Acquired aplastic anemia associated with trisomy eight converting into acute myeloid leukemia

2017 ◽  
Vol 9 (03) ◽  
pp. 207-209
Author(s):  
Sumit Grover ◽  
Amit Kumar Dhiman ◽  
Bhavna Garg ◽  
Neena Sood ◽  
Vikram Narang
Keyword(s):  
Aplastic Anemia ◽  
Myeloid Leukemia ◽  
Immunosuppressive Treatment ◽  
Promyelocytic Leukemia ◽  
Trisomy 8 ◽  
Hematopoietic Stem ◽  
Haematopoietic Cells ◽  
Cytogenetic Studies ◽  
Hypoplastic Marrow

AbstractAplastic anemia (AA) is nowadays considered to be a clonal disorder arising from a defective hematopoietic stem cell developing after a generalized insult to bone marrow. Immunosuppressive treatment (IST) of AA causes suppression of the target dominant population of haematopoietic cells allowing the defective non targeted clones to expand. This may give rise to acute leukemia. Cytogenetic studies for chromosomal aberrations such as trisomy and monosomy may help in detecting such conversions. We present a case of acquired AA in a 60-year-old male presenting with pancytopenia and hypoplastic marrow treated with antithymocyte globulin, converting into myelodysplastic syndrome and later on acute promyelocytic leukemia after being in remission for 4 years. The patient was found to have trisomy 8 on fluorescence in situ hybridization and karyotyping.

scholarly journals Routes of Clonal Evolution into Complex Karyotypes in Myelodysplastic Syndrome Patients with 5q Deletion

2018 ◽  
Vol 19 (10) ◽  
pp. 3269 ◽  
Author(s):  
Simone Feurstein ◽  
Kathrin Thomay ◽  
Winfried Hofmann ◽  
Guntram Buesche ◽  
Hans Kreipe ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Myeloid Leukemia ◽  
Clonal Evolution ◽  
Suppressor Gene ◽  
Trisomy 8 ◽  
Multicolor Fish ◽  
Catastrophic Event ◽  
Evolution And Development ◽  
Gene Tp53

Myelodysplastic syndrome (MDS) can easily transform into acute myeloid leukemia (AML), a process which is often associated with clonal evolution and development of complex karyotypes. Deletion of 5q (del(5q)) is the most frequent aberration in complex karyotypes. This prompted us to analyze clonal evolution in MDS patients with del(5q). There were 1684 patients with low and intermediate-risk MDS and del(5q) with or without one additional cytogenetic abnormality, who were investigated cytogenetically in our department, involving standard karyotyping, fluorescence in situ hybridization (FISH) and multicolor FISH. We identified 134 patients (8%) with aspects of clonal evolution. There are two main routes of cytogenetic clonal evolution: a stepwise accumulation of cytogenetic events over time and a catastrophic event, which we defined as the occurrence of two or more aberrations present at the same time, leading to a sudden development of highly complex clones. Of the 134 patients, 61% underwent a stepwise accumulation of events whereas 39% displayed a catastrophic event. Patients with isolated del(5q) showed significantly more often a stepwise accumulation of events rather than a catastrophic event. The most frequent aberrations in the group of stepwise accumulation were trisomy 8 and trisomy 21 which were significantly more frequent in this group compared to the catastrophic event group. In the group with catastrophic events, del(7q)/-7 and del(17p)/-17 were the most common aberrations. A loss of 17p, containing the tumor suppressor gene TP53, was found significantly more frequent in this group compared to the group of stepwise accumulation. This leads to the assumption that the loss of TP53 is the driving force in patients with del(5q) who undergo a sudden catastrophic event and evolve into complex karyotypes.

scholarly journals Secondary CNL after SAA reveals insights in leukemic transformation of bone marrow failure syndromes

2020 ◽  
Vol 4 (21) ◽  
pp. 5540-5546
Author(s):  
Laurent Schmied ◽  
Patricia A. Olofsen ◽  
Pontus Lundberg ◽  
Alexandar Tzankov ◽  
Martina Kleber ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Aplastic Anemia ◽  
Myeloid Leukemia ◽  
Bone Marrow Failure ◽  
Driver Mutations ◽  
Leukemic Transformation ◽  
Hematopoietic Stem ◽  
Bone Marrow Failure Syndromes ◽  
Proinflammatory Responses ◽  
Stem And Progenitor Cells

Abstract Acquired aplastic anemia and severe congenital neutropenia (SCN) are bone marrow (BM) failure syndromes of different origin, however, they share a common risk for secondary leukemic transformation. Here, we present a patient with severe aplastic anemia (SAA) evolving to secondary chronic neutrophilic leukemia (CNL; SAA-CNL). We show that SAA-CNL shares multiple somatic driver mutations in CSF3R, RUNX1, and EZH2/SUZ12 with cases of SCN that transformed to myelodysplastic syndrome or acute myeloid leukemia (AML). This molecular connection between SAA-CNL and SCN progressing to AML (SCN-AML) prompted us to perform a comparative transcriptome analysis on nonleukemic CD34high hematopoietic stem and progenitor cells, which showed transcriptional profiles that resemble indicative of interferon-driven proinflammatory responses. These findings provide further insights in the mechanisms underlying leukemic transformation in BM failure syndromes.

scholarly journals Matched unrelated donor hematopoietic stem cell transplantation - our results

2017 ◽  
Vol 70 (suppl. 1) ◽  
pp. 63-65
Author(s):  
Marija Elez ◽  
Lavinika Atanaskovic ◽  
Svetlana Mirosavljevic ◽  
Gordana Ostojic ◽  
Biljana Todoric-Zivanovic ◽  
...  
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Stem Cell Transplantation ◽  
Aplastic Anemia ◽  
Cell Transplantation ◽  
Hematopoietic Stem Cell ◽  
Myeloid Leukemia ◽  
Unrelated Donor ◽  
Matched Unrelated Donor ◽  
Hematopoietic Stem

Introduction. Allogeneic stem-cell transplantation is only potentially curative therapy for variety of hematology malignancies, such as acute and chronic leukemia, myelodisplastic syndrome and aplastic anemia, but also promising treatment option for other disorders. If we know that only 25% of patients have an human leukocyte antigen identical sibling donor, it is obvious that matched unrelated donor hematopoietic stem cell transplantation is an alternative for the rest of the patients. Material and Methods. Since 2013, matched unrelated donor hematopoietic stem cell transplantation has been performed routinely in the Military Medical Academy. Results. We hereby present the outcome after 77 procedures in 75 patients. Considering primary diseases, 35 patients had acute myeloid leukemia, 25 patients had acute lymphoid leukemia, 5 patients had chronic myeloid leukemia, 9 patients had myelodisplastic syndrome and we performed the transplant on 1 patient with chronic lymphocyte leukemia, 1 patient with aplastic anemia and 1 patient with T lymphoblastic lymphoma. Conclusion. It is difficult to make clear conclusions based on this heterogeneous group of patients, but it seems that these results are encouraging. Future research will be performed to evaluate matched unrelated donor and identical sibling hematopoietic stem cell transplantation in the homogenous groups with respect to primary diseases.

scholarly journals A Special Fluorescent In Situ Hybridization Technique to Study Peripheral Blood and Assess the Effectiveness of Interferon Therapy in Chronic Myeloid Leukemia

Blood ◽  
1998 ◽  
Vol 92 (7) ◽  
pp. 2315-2321 ◽  
Author(s):  
Ismael Buño ◽  
William A. Wyatt ◽  
Alan R. Zinsmeister ◽  
Jeanne Dietz-Band ◽  
Richard T. Silver ◽  
...  
Keyword(s):  
Bone Marrow ◽  
In Situ Hybridization ◽  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Residual Disease ◽  
Hybridization Technique ◽  
Interphase Nuclei ◽  
Cytogenetic Studies ◽  
Blood Specimens

Abstract Using a highly sensitive fluorescence in situ hybridization method with probes for BCR and ABL1 (D-FISH), we studied 37 paired sets of bone marrow and blood specimens, collected within 24 to 96 hours of each other, from 10 patients before and during treatment for chronic myeloid leukemia (CML). The normal range for 500 interphase nuclei was ≤4 (≤0.8%) nuclei based on 10 bone marrow and 10 blood specimens from normal individuals. The percentage of neoplastic nuclei was usually lower in blood than bone marrow. However, changes in the percentage of neoplastic nuclei in blood and bone marrow tracked closely over the course of therapy and with the results of quantitative cytogenetic studies on bone marrow. This result indicates that D-FISH is useful to test blood from patients with CML to monitor therapy. Moreover, by analysis of 6,000 nuclei with D-FISH, residual disease was identified in bone marrow and blood for patients in complete cytogenetic remission. Consequently, D-FISH analyses of interphase nuclei from blood could substitute for Q-cytogenetic studies on bone marrow. Thus, it may not be necessary to collect bone marrow samples so frequently to monitor therapy in CML.

High frequency of trisomy 8 in acute promyelocytic leukemia: A fluorescence in situ hybridization study

1997 ◽  
Vol 97 (2) ◽  
pp. 161-164 ◽  
Author(s):  
Mario Sessarego ◽  
Giuseppina Fugazza ◽  
Enrico Balleari ◽  
Roberto Bruzzone ◽  
Alberto Ballestrero ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Acute Promyelocytic Leukemia ◽  
High Frequency ◽  
Promyelocytic Leukemia ◽  
Hybridization Study ◽  
Trisomy 8

scholarly journals Aplastic Anemia induced by Nivolumab before a Treatment of Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia

Biodiscovery ◽  
2019 ◽  
Vol 22 ◽  
Author(s):  
Wenhan Cheng ◽  
Bryan Jackson
Keyword(s):  
T Cells ◽  
Acute Myeloid Leukemia ◽  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Stem Cell Transplantation ◽  
Aplastic Anemia ◽  
Cell Transplantation ◽  
Myeloid Leukemia ◽  
Hematopoietic Stem ◽  
Acute Myeloid

As an Immune checkpoint blockade therapy (ICB), nivolumab has demonstrated efficacy in Acute Myeloid Leukemia (AML) and various other malignancies. Nivolumab is used as an anti-programmed cell death 1 (PD-1) agent. The toxicities are observed in more than 10% of patients, because of its ability, anti-PD-1 will upregulate the activity of T-cells. Over-activated T-cells will cause immune-related adverse events such as Aplastic Anemia (AA). Here, we present a case of an over 60-years old male patient with AML, and the possibility for him to receive an allogeneic hematopoietic stem cell transplantation (allo-HSCT). The patient was treated with nivolumab and subsequently developed AA. As an additional consideration, we will also discuss whether allo-HSCT is transplantable when AA is performed during the treatment of AML.

Myeloid Sarcoma of the Urinary Bladder and Epididymis as a Primary Manifestation of Acute Myeloid Leukemia With inv(16)

2006 ◽  
Vol 130 (6) ◽  
pp. 862-866 ◽  
Author(s):  
Samer Z. Al-Quran ◽  
Adriana Olivares ◽  
Pei Lin ◽  
Tanya W. Stephens ◽  
L. Jeffrey Medeiros ◽  
...  
Keyword(s):  
Myeloid Leukemia ◽  
Lower Urinary Tract ◽  
Myeloid Sarcoma ◽  
Tissue Sections ◽  
Myeloid Neoplasm ◽  
Cytogenetic Studies ◽  
High Index Of Suspicion ◽  
Acute Myeloid ◽  
Lower Urinary

Abstract Myeloid sarcoma (MS) of the lower urinary tract is rare. We describe a 47-year-old man with hematuria, who was subsequently found to have MS involving bladder and epididymis. The neoplasm was composed predominantly of blasts that expressed CD68, CD117, myeloperoxidase, and lysozyme, with occasional immature eosinophils. Although blood and bone marrow examinations showed no morphologic evidence of leukemia, conventional cytogenetic studies of marrow demonstrated inv(16)(p13q22) in 4 of 20 metaphases; fluorescence in situ hybridization of the bladder neoplasm also showed inv(16). Following chemotherapy, the patient has been in complete remission for 32 months. In our literature review, we identified 7 cases of MS involving bladder, only 3 without evidence of an associated myeloid neoplasm in marrow, none with cytogenetic data. A high index of suspicion is required to establish the diagnosis of MS involving bladder. Cytogenetic analysis is useful for both demonstrating minimal marrow disease and classifying MS in paraffin-embedded tissue sections.

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