Molecular Genetic Detection of Minimal Metastatic and Residual Disease in Ewing’s Tumors

2000 ◽  
pp. 185-195
Author(s):  
B. Dockhorn-Dworniczak ◽  
K. L. Schäfer ◽  
M. Paulussen ◽  
S. Ahrens ◽  
W. Winkelmann ◽  
...  
Keyword(s):  
Residual Disease ◽  
Molecular Genetic ◽  
Genetic Detection

Molecular genetic detection of Xp21 muscular dystrophy carriers in Cyprus

1994 ◽  
Vol 48 (8-9) ◽  
pp. 355-358 ◽  
Author(s):  
K. Christodoulou ◽  
P. Ioannou ◽  
L. Middleton
Keyword(s):  
Muscular Dystrophy ◽  
Molecular Genetic ◽  
Genetic Detection

scholarly journals HUMAN PAPILLOMAVIRUS AS AN EPIGENETIC COFACTOR OF THE DEVELOPMENT OF SEVERAL EPITHELIAL NON-MELANOCYTIC SKIN NEOPLASMS (LITERATURE REVIEW)

2019 ◽  
Vol 22 (5-6) ◽  
pp. 138-148
Author(s):  
Avad Zhaber Mahmud Zhaber ◽  
E. S Snarskaya
Keyword(s):  
Human Papillomavirus ◽  
Molecular Genetic ◽  
Cumulative Effect ◽  
Skin Neoplasms ◽  
Biological Data ◽  
Detection Methods ◽  
Human Papillomavirus Infection ◽  
Papillomavirus Infection ◽  
Genetic Detection

In recent decades, interest in the role of human papillomavirus (HPV) has been steadily increasing, which can be attributed both to the evolution of molecular genetic detection methods and to the widespread of this viral infection in the population. Epidemiological and molecular biological data suggest that HPV genus beta can cause the development of a number of epithelial non-melanocytic neoplasms of the skin. However, this relationship has not yet been fully studied. Possibly, human papillomavirus infection should be considered from the perspective of co-carcinogenesis with the cumulative effect of UV irradiation, which is indirectly indicated by the predominant localization of elements in open areas of the skin and the high risks of their malignant transformation.

scholarly journals Clonal hematopoiesis and measurable residual disease assessment in acute myeloid leukemia

Blood ◽  
2020 ◽  
Vol 135 (20) ◽  
pp. 1729-1738 ◽  
Author(s):  
Robert P. Hasserjian ◽  
David P. Steensma ◽  
Timothy A. Graubert ◽  
Benjamin L. Ebert
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Hematopoietic Cell Transplantation ◽  
Residual Disease ◽  
Molecular Genetic ◽  
Disease Assessment ◽  
Clonal Hematopoiesis ◽  
Myeloid Neoplasm ◽  
Measurable Residual Disease ◽  
Acute Myeloid

Abstract Current objectives regarding treatment of acute myeloid leukemia (AML) include achieving complete remission (CR) by clinicopathological criteria followed by interrogation for the presence of minimal/measurable residual disease (MRD) by molecular genetic and/or flow cytometric techniques. Although advances in molecular genetic technologies have enabled highly sensitive detection of AML-associated mutations and translocations, determination of MRD is complicated by the fact that many treated patients have persistent clonal hematopoiesis (CH) that may not reflect residual AML. CH detected in AML patients in CR includes true residual or early recurrent AML, myelodysplastic syndrome or CH that is ancestral to the AML, and independent or newly emerging clones of uncertain leukemogenic potential. Although the presence of AML-related mutations has been shown to be a harbinger of relapse in multiple studies, the significance of other types of CH is less well understood. In patients who undergo allogeneic hematopoietic cell transplantation (HCT), post-HCT clones can be donor-derived and in some cases engender a new myeloid neoplasm that is clonally unrelated to the recipient’s original AML. In this article, we discuss the spectrum of CH that can be detected in treated AML patients, propose terminology to standardize nomenclature in this setting, and review clinical data and areas of uncertainty among the various types of posttreatment hematopoietic clones.

scholarly journals Molecular genetic detection of female carriers of protan defects

1998 ◽  
Vol 38 (21) ◽  
pp. 3365-3369 ◽  
Author(s):  
Pamela M Kainz ◽  
Maureen Neitz ◽  
Jay Neitz
Keyword(s):  
Molecular Genetic ◽  
Genetic Detection ◽  
Female Carriers

scholarly journals Comparison of molecular genetic methods of detection of mutations in the CALR gene in myeloproliferative disorders

2019 ◽  
Vol 6 (2) ◽  
pp. 48-54
Author(s):  
L. A. Kesaeva ◽  
A. Yu. Bulanov ◽  
Yu. P. Finashutina ◽  
V. V. Tikhonova ◽  
O. N. Solopova ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Sanger Sequencing ◽  
Molecular Genetic ◽  
Melting Curve ◽  
Curve Analysis ◽  
Melting Curve Analysis ◽  
Chain Reaction ◽  
Genetic Detection ◽  
Polymerase Chain ◽  
Calr Mutations

Molecular genetic detection of CALR gene somatic mutations is required for myeloproliferative neoplasms diagnosis and treatment according to the novel WHO clinical recommendations. CALR mutations are found in approximately 25–35 % cases of essential thrombocythemia and primary myelofibrosis and they are associated with benign clinical outcome. In this study we have compared sensitivity and selectivity of seve ral different options of CALR mutation molecular genetic detection in blood samples of 379 CMD patients and 17 healthy donors. Among methods compared in our study there have been conventional polymerase chain reaction with electrophoretic detection, real-time quantitative polymerase chain reaction, direct Sanger sequencing of polymerase chain reaction fragments and polymerase chain reaction high resolution melting curve analysis. By means of melting curve analysis CALR mutations have been found in 97 (25.5 %) patients, whereas in the cases of Sanger sequencing and polymerase chain reaction there have been 87 (23.0 %) and 84 (22.1 %) CALR mutation positive patients respectively.

Cytogenetic Risk Groups and Minimal Residual Disease Are Strong Prognostic Factors for Post-Transplant Outcome in Patients with Acute Myeloid Leukaemia and Myelodysplastic Syndrome

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4482-4482
Author(s):  
Olga Blau ◽  
Katja Graul ◽  
Annette Sindram ◽  
Eckhard Thiel ◽  
Igor Wolfgang Blau
Keyword(s):  
High Risk ◽  
Residual Disease ◽  
Molecular Genetic ◽  
Intermediate Risk ◽  
Consolidation Therapy ◽  
Reduced Intensity Conditioning ◽  
Myeloablative Conditioning ◽  
Minimal Residual ◽  
Reduced Intensity ◽  
Acute Myeloid

Abstract Abstract 4482 Allogeneic stem cell transplantation (alloSCT) is a curative treatment option for patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). Relapse after alloSCT is still a major cause for the treatment failure. Molecular genetic (FLT3, NPM1 mutations) and cytogenetic risk-categories have an important impact on the prognosis of patients undergoing alloSCT. However, it has been shown that there is a closely relationship between the level of minimal residual disease (MRD) and relapse after alloSCT in leukemia patients. We analyzed 140 AML/MDS patients transplanted at our institution. We examined the contribution of cytogenetic aberrations and molecular genetic markers detected prior alloSCT to survival, relapse, and mortality after transplantation. Furthermore, we analyzed MRD status after consolidation therapy and in post-transplant period. We classified molecular genetic/cytogenetic status before alloSCT into 2 groups: low-risk: good and intermediate-risk karyotype, FLT3-wt, NPM1-mutated cases and high-risk: adverse-risk cytogenetic, FLT3-ITD mutated cases. A good risk karyotype was present in 8 patients; an intermediate risk in 56 patients, whereas 76 patients had a poor cytogenetic risk. 51 patients were treated with standard myeloablative conditioning regiments prior to alloSCT, 73 patients received reduced intensity conditioning and 16 non-myeloablative conditioning. 40 patients had a matched-related donor and 100 patients had a matched-unrelated donor. Overall survival (OS) in the group of patients with low cytogenetic risk was 839 days as compared with 613 days in high-risk group. The low risk cohort also showed a lower relapse (33% vs. 51%, p<0,03) and mortality rate (20% vs. 71%, p<0,003). We analyzed MRD status in all patients after consolidation therapy. MRD negative patients are characterized by favorable prognosis as compared with MRD positive patients, OS 87% vs. 53%, p<0,001. We conclude that risk-stratification combining molecular genetics and cytogenetics aberrations at the time of diagnosis with post-consolidation MRD status improve identification of high-risk category of patients. New treatment strategies are needed to overcome poor outcome of high risk AML patients, for instance, immunotherapy options like prophylactic DLI, shorter and modified immunosuppression, specific reduced intensity conditioning or new drugs like tyrosine kinase inhibitors. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia †

2001 ◽  
Vol 86 (2) ◽  
pp. 283-287 ◽  
Author(s):  
A Urwyler ◽  
T Deufel ◽  
T McCarthy ◽  
S West
Keyword(s):  
Malignant Hyperthermia ◽  
Molecular Genetic ◽  
Genetic Detection

scholarly journals Diagnostics and treatment challenges of Ph-like acute lymphoblastic leukemia: a description of 3 clinical cases

2018 ◽  
Vol 90 (7) ◽  
pp. 110-117
Author(s):  
K I ZARUBINA ◽  
E N PAROVICHNIKOVA ◽  
G A BASKHAEVA ◽  
A E KRASILNIKOVA ◽  
O A GAVRILINA ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Residual Disease ◽  
Lymphoblastic Leukemia ◽  
Molecular Genetic ◽  
Biological Properties ◽  
Diverse Group ◽  
Blood Disorders ◽  
Selective Treatment ◽  
Genetic Techniques ◽  
Clinical Cases

B-cell acute lymphoblastic leukemia (B-ALL) is a diverse group of malignant blood disorders both with regard to the biological properties of the tumor and to therapeutic approaches. Immunophenotyping, molecular genetic techniques, whole-genome sequencing characterize B-ALL as a very diverse group for sensitivity to chemotherapy and prognosis. We present three clinical cases of patients with B-ALL and expected good response to standard therapy, in whom standard protocol treatment failured: refractoriness, persistence of minimal residual disease (MRD), and progression (MRD increase). The remission in these patients was achieved after chemotherapy change to immunological targeted therapy. Nowadays a unified therapeutic approach to all primary patients of the B-ALL is considered generally outdated. Great efforts are carrying out to develop molecular genetic classifications. The molecular dissection of subtypes of B-ALL goes on, and new protocols for selective treatment with targeting are clearly outlined for each subtype of B-ALL.

scholarly journals Pathways to false positive diagnoses using molecular genetic detection methods; Phytophthora cinnamomi a case study

2017 ◽  
pp. fnx009 ◽  
Author(s):  
Manisha Kunadiya ◽  
Diane White ◽  
William A. Dunstan ◽  
Giles E. St ◽  
J. Hardy ◽  
...  
Keyword(s):  
False Positive ◽  
Phytophthora Cinnamomi ◽  
Molecular Genetic ◽  
Detection Methods ◽  
Genetic Detection
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