scholarly journals Atypical Chronic Myelogenous Leukemia, BCR-ABL1 Negative: Diagnostic Criteria and Treatment Approaches

2021 ◽  
Vol 11 ◽  
Author(s):  
Panagiotis T. Diamantopoulos ◽  
Nora-Athina Viniou
Keyword(s):  
Diagnostic Criteria ◽  
Molecular Characterization ◽  
Chronic Myelogenous Leukemia ◽  
Myeloproliferative Neoplasm ◽  
Review Article ◽  
Myelogenous Leukemia ◽  
Molecular Profile ◽  
Leukemic Transformation ◽  
The Past

Atypical chronic myelogenous leukemia (aCML), BCR/ABL1 negative is a rare myelodysplastic/myeloproliferative neoplasm, usually manifested with hyperleukocytosis without monocytosis or basophilia, organomegaly, and marked dysgranulopoiesis. In this review, we will discuss the classification and diagnostic criteria of aCML, as these have been formulated during the past 30 years, with a focus on the recent advances in the molecular characterization of the disease. Although this entity does not have a definitive molecular profile, its molecular characterization has contributed to a better understanding and more accurate classification and diagnosis of aCML. At the same time, it has facilitated the identification of adverse prognostic factors and the stratification of patients according to their risk for leukemic transformation. What is more, the molecular characterization of the disease has expanded our therapeutic choices, thoroughly presented and analyzed in this review article.

Chronic Myelogenous Leukemia Presenting as a Secondary Malignancy After BCR-ABL1-negative B-lymphoblastic Leukemia/Lymphoma in a Pediatric Patient

2017 ◽  
Vol 20 (1) ◽  
pp. 58-62
Author(s):  
Gheorghe Popa ◽  
Cristina Blag ◽  
Horatiu Olteanu
Keyword(s):  
Complete Remission ◽  
Pediatric Patient ◽  
Chronic Myelogenous Leukemia ◽  
Pediatric Population ◽  
Lymphoblastic Leukemia ◽  
Myeloproliferative Neoplasm ◽  
Myelogenous Leukemia ◽  
Secondary Malignancy ◽  
Pediatric Malignancy ◽  
Pathologic Features

Chronic myelogenous leukemia, BCR-ABL1 positive (CML) is a rare myeloproliferative neoplasm in children and presents even less often as a secondary malignancy in the pediatric population. Below, we report a patient with Philadelphia-negative B-lymphoblastic leukemia/lymphoma, who developed CML several years after achieving complete remission, and summarize the existing literature on the clinical and pathologic features of CML as a secondary pediatric malignancy.

scholarly journals Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases

2019 ◽  
Vol 78 (11) ◽  
pp. 980-992 ◽  
Author(s):  
Aušrinė Areškevičiūtė ◽  
Helle Broholm ◽  
Linea C Melchior ◽  
Anna Bartoletti-Stella ◽  
Piero Parchi ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Prion Disease ◽  
Prion Diseases ◽  
The Past ◽  
Disease Biology ◽  
Fresh Frozen ◽  
Jakob Disease ◽  
Disease Subtypes ◽  
Codon 129

Abstract The purpose of this study was to perform an updated reclassification of all definite prion disease cases with available fresh-frozen samples referred to the Danish Reference Center over the past 40 years, putting a special emphasis on the molecular characterization of novel disease subtypes. Investigation of the Danish prion diseases cohort revealed rare sporadic Creutzfeldt-Jakob disease cases with mixed subtypes and subtypes with previously uncharacterized white matter plaques, a new case of sporadic fatal insomnia, and 3 novel mutations, including 2 large octapeptide repeat insertions, and a point mutation in the prion protein gene. The evaluation of methionine and valine distribution at codon 129 among the prion disease patients in the cohort revealed the increased prevalence of methionine homozygotes compared to the general population. This observation was in line with the prevalence reported in other Caucasian prion disease cohort studies. Reclassification of the old prion diseases cohort revealed unique cases, the molecular characterization of which improves prion diseases classification, diagnostic accuracy, genetic counseling of affected families, and the understanding of disease biology.

scholarly journals RECENT APPROACHES OF SOLID DISPERSION: A NEW CONCEPT TOWARD ORAL BIOAVAILABILITY SABITRI BINDHANI* , SNEHAMAYEE MOHAPATRA

2018 ◽  
Vol 11 (2) ◽  
pp. 72 ◽  
Author(s):  
Sabitri Bindhani ◽  
Snehamayee Mohapatra
Keyword(s):  
Solid Dispersion ◽  
Relative Bioavailability ◽  
Review Article ◽  
Water Soluble ◽  
Advanced Technology ◽  
Minimum Level ◽  
Bioavailability Enhancement ◽  
The Past ◽  
Poorly Soluble

 Solid dispersion (SD) has been a major advanced technology in overcoming dissolution and bioavailability problem of poorly soluble compounds. Formulation of SD in water-soluble carrier has becoming more researched over the past four decades for solubility and relative bioavailability enhancement. By reduction of the size of the drug particle to the minimum level which will enhance drug wettability and ultimately bioavailability will be definitely improved. This review article elaborates recent advanced technology and characterization of SDs and also discusses the problems and their solution for the development of better formulations.

Tet2 Loss Accelerates The Myeloproliferative Neoplasm (MPN) Phenotype Of Jak2V617F Knockin Mice But Is Insufficient To Cause Leukemic Transformation

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4095-4095
Author(s):  
Edwin Chen ◽  
Lawrence J Breyfogle ◽  
Rebekka K. Schneider ◽  
Luke Poveromo ◽  
Ross L. Levine ◽  
...  
Keyword(s):  
Gene Expression ◽  
Bone Marrow ◽  
Conflicts Of Interest ◽  
Myeloproliferative Neoplasms ◽  
Myeloproliferative Neoplasm ◽  
Conditional Knockout ◽  
The Other ◽  
Myelogenous Leukemia ◽  
Leukemic Transformation ◽  
The Impact

Abstract TET2 mutations are early somatic events in the pathogenesis of acute myeloid leukemia (AML), myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPN) and are one of the most common genetic lesions found in these diseases. In MPN, TET2 mutations are enriched within more advanced disease phenotypes such as myelofibrosis and leukemic transformation and often co-occur with the JAK2V617F mutation, which is present in the majority of MPN patients. We have developed and characterized a Jak2V617F conditional knockin mouse (Jak2VF/+), the phenotype of which closely recapitulates the features of human MPN. To determine the impact of Tet2 loss on Jak2V617F-mediated MPN, we crossed Tet2 conditional knockout mice with Jak2VF/+ knockin and Vav-Cre transgenic mice and backcrossed the compound mutant animals. We then characterized the effects of heterozygous and homozygous loss of Tet2 on the phenotype of Jak2VF/+ mice. We assessed peripheral blood counts, histopathology, hematopoietic differentiation using flow cytometry, colony formation and re-plating capacity. We also evaluated the effects of Tet2 loss on the transcriptome of the HSC compartment using gene expression microarrays and on HSC function using competitive bone marrow transplantation assays. Similar to Jak2VF/+/VavCre+ mice, Tet2+/-/Jak2VF/+/VavCre+ and Tet2-/-/Jak2VF/+/VavCre+ mice develop leukocytosis, elevated hematocrits (HCT) and thrombocytosis. Tet2-/-/Jak2VF/+/VavCre+ mice demonstrate enhanced leukocytosis and splenomegaly compared to the other groups. All groups demonstrate myeloid expansion, erythroid hyperplasia and megakaryocytic abnormalities consistent with MPN in the bone marrow and spleen, while more prominent myeloid expansion and megakaryocytic morphological abnormalities are observed in Tet2-/-/Jak2VF/+/VavCre+ mice as compared to the other groups. Notably, we do not see the development of acute myelogenous leukemia (AML) in Tet2-/-/Jak2VF/+/VavCre+ mice at 6 months. We see enhanced expansion of lineagelowSca1+cKithigh (LSK) cells (enriched for HSC) most prominently in the spleens of Tet2+/-/Jak2VF/+/VavCre+ and Tet2-/-/Jak2VF/+/VavCre+ mice as compared to Jak2VF/+/VavCre+ mice. In colony forming assays, we find that Tet2-/-/Jak2VF/+/VavCre+ LSK cells have enhanced re-plating activity compared to Jak2VF/+/VavCre+ LSK cells and that Tet2-/-/Jak2VF/+/VavCre+ LSK cells form more colonies that Tet2-/-/Jak2+/+/VavCre+ cells. Gene expression analysis demonstrates enrichment of a HSC self-renewal signature inTet2-/-/Jak2VF/+/VavCre+ LSK cells. Concordant with this, we find that Tet2-/-/Jak2VF/+/VavCre+ LSK cells have enhanced competitive repopulation at 16 weeks as compared to Jak2VF/+/VavCre+ and Tet2+/-/Jak2VF/+/VavCre+ LSK cells. In aggregate these findings demonstrate that Tet2 loss promotes disease progression in MPN but is insufficient to drive full leukemic transformation. Disclosures: No relevant conflicts of interest to declare.

scholarly journals CHARACTERISTIC OF CHRONIC MYELOGENOUS LEUKEMIA PATIENTS AT THE POLYCLINIC OF ONCOLOGY, DR. SOETOMO GENERAL ACADEMIC HOSPITAL, SURABAYA, INDONESIA IN 2017

2020 ◽  
Vol 30 (1) ◽  
pp. 27
Author(s):  
M. Rifqi Wiyono ◽  
Siprianus Ugroseno Yudho Bintoro ◽  
Yetti Hernaningsi
Keyword(s):  
Chronic Myelogenous Leukemia ◽  
Peripheral Blood ◽  
Blood Smear ◽  
Myeloproliferative Neoplasm ◽  
Peripheral Blood Smear ◽  
The United States ◽  
Chromosome 9 ◽  
Myelogenous Leukemia ◽  
Academic Hospital ◽  
Giant Platelets

Background: Chronic myelogenous leukemia (CML) is a myeloproliferative neoplasm because of the reciprocal translocation of chromosome 22 to chromosome 9. In the United States, the incidence of CML is 1.9 cases per 100,000 people. Whereas in Indonesia, there is no specific national data on CML prevalence, especially regarding the clinical profile, even though the cancer cases reach 1.4 per 1,000 population. Objective: To evaluate the characteristics and clinical features of CML patients in Dr. Soetomo General Academic Hospital, Surabaya, Indonesia. Materials and Methods: This was a cross-sectional descriptive study with data from the medical records of CML patients in 2017 at Dr. Soetomo General Academic Hospital, Surabaya, Indonesia. The sample in this study was CML patients with positive Breakpoint Clusters Region- Abelson (BCR-ABL), having a minimum age of 18 years and equipped with epidemiological data, complete blood count data, and peripheral blood smear data. Results: Thirty-three patients met the study criteria. The sample was predominantly male, with a ratio of 1.06 : 1 to female patients with a median age of 40 years. Spleno-megaly was found in 87.9% of the patients. The average results of leukocyte, platelet, and hemoglobin counts were 254.58 x 103/μL, 557 x 103/μL, and 9.55 g/dL. From the results of peripheral blood smear obtained normochromic normocytic anisopoikilo-cytosis erythrocyte (57.6%), all patients had a profile of increased leukocytes with blast presence in 97% of the patients, and 51.5% had a profile of an increase in platelets and the discovery of giant platelets in 33.3% of the patients. Conclusion: The sample was predominantly male with the highest incidence at a younger age range of 21-30 years. The clinical characteristics showed high leukocytosis with various stage of maturation and a tendency to develop grade 2 normocytic normochromic anemia and thrombo-cytosis was found in the patients.

Medulloblastoma

2018 ◽  
Author(s):  
Robert North ◽  
Ganesh Rao
Keyword(s):  
Diagnostic Criteria ◽  
Molecular Characterization ◽  
Survival Rates ◽  
Clinical Behavior ◽  
Pathological Classification ◽  
Clinical Scenarios ◽  
Tumor Types ◽  
Classification And Treatment ◽  
Brain Malignancy

Medulloblastoma is the most common brain malignancy in children. This chapter details the current diagnostic criteria, pathological classification, and treatment paradigms. Recent molecular characterization of medulloblastoma has revealed significant variations in clinical behavior of different tumor types. While the treatments for medulloblastoma are generally quite successful, with 5 year survival rates approaching 80%, the responsiveness of each subtype to treatment varies. The authors cover common clinical scenarios along with management pearls and key references.

Molecular characterization of tumors meeting diagnostic criteria for the non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)

2019 ◽  
Vol 474 (3) ◽  
pp. 341-351 ◽  
Author(s):  
Christopher Pool ◽  
Vonn Walter ◽  
Darrin Bann ◽  
David Goldenberg ◽  
James Broach ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Molecular Characterization ◽  
Thyroid Neoplasm ◽  
Non Invasive ◽  
Nuclear Features
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