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46,XX males with SRY gene translocation: cytogenetics and molecular characterization
PurposeXX male syndrome also known as De la Chapelle syndrome/Testicular Disorder of Sex Development (DSD) is a rare genetic abnormality, identified...
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Chronic myeloid leukemia: cytogenetics and molecular biology’s part in the comprehension and management of the pathology and treatment evolution
BackgroundChronic myelogenous leukemia (CML) is a type of blood cancer that affects hematopoietic stem cells and is often characterized by the...
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Cytogenetics analysis as the central point of genetic testing in acute myeloid leukemia (AML): a laboratory perspective for clinical applications
Chromosomal abnormalities in acute myeloid leukemia (AML) have significantly contributed to scientific understanding of its molecular pathogenesis,...
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The complex karyotype in hematological malignancies: a comprehensive overview by the Francophone Group of Hematological Cytogenetics (GFCH)
Karyotype complexity has major prognostic value in many malignancies. There is no consensus on the definition of a complex karyotype, and the...
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Multiple myeloma with high-risk cytogenetics and its treatment approach
Despite substantial advances in anti-myeloma treatments, early recurrence and death remain an issue in certain subpopulations. Cytogenetic...
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Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome
BackgroundWAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’...
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Diagnostic and prognostic molecular pathology of lymphoid malignancies
With the explosion in knowledge about the molecular landscape of lymphoid malignancies and the increasing availability of high throughput techniques,...
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Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
Genomic analyses have redefined the molecular subgrou** of pediatric acute lymphoblastic leukemia (ALL). Molecular subgroups guide...
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In-depth molecular analysis of lymphomas with lymphoplasmacytic differentiation may provide more precise diagnosis and rational treatment allocation
We performed a molecular analysis of formalin-fixed paraffin embedded and decalcified bone marrow trephine biopsies of 41 patients with a B-cell...
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Molecular ontogeny underlies the benefit of adding venetoclax to hypomethylating agents in newly diagnosed AML patients
The clinical impact of molecular ontogeny in acute myeloid leukemia (AML) was defined in patients treated with intensive chemotherapy. In a cohort of...
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Clinical practice guidelines for molecular tumor marker, 2nd edition review part 2
In recent years, rapid advancement in gene/protein analysis technology has resulted in target molecule identification that may be useful in cancer...
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Molecular genetics and management of world health organization defined atypical chronic myeloid leukemia
Atypical chronic myeloid leukemia (CML) is a rare BCR::ABL1 -negative hematopoietic stem cell disease characterized by granulocytic proliferation and...
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Hypomethylating agents plus modified priming regimens compared with venetoclax-based regimens based on molecular characteristics for newly diagnosed patients with acute myeloid leukemia: a multi-center cohort study
Venetoclax (VEN)-based regimens are the standard of care for elderly or unfit patients with newly diagnosed (ND) acute myeloid leukemia (AML). Some...
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Late relapse of chronic myeloid leukemia after allogeneic bone marrow transplantation points to KANSARL (KANSL1::ARL17A) alteration: a case report with insights on the molecular landscape
Chronic myeloid leukemia is a myeloproliferative neoplasm characterized by the presence of the Philadelphia chromosome and the consequent BCR::ABL1...
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FLT3 inhibitors as MRD-guided salvage treatment for molecular failure in FLT3 mutated AML
Patients with FLT3 -mutated AML have a high relapse rate and suboptimal outcomes. Many have co-mutations suitable for measurable residual disease...