Molecular Diagnostic Testing for Hematopoietic Neoplasms

Hergott, Christopher B.; Kim, Annette S.

doi:10.1016/j.cll.2022.04.005

Cited by 12 publications

(11 citation statements)

References 135 publications

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“…During the past study period, advances in laboratory techniques have had a significant impact on the diagnosis and management of hematologic malignancies [ 34 , 35 ]. With the development of new technologies, such as next-generation sequencing, flow cytometry, and molecular genetics, it is now possible to identify specific genetic mutations and biomarkers that can be used to classify and prognosticate hematologic malignancies [ 36 ]. This 30-year time series shows significant hematologic malignancies and specific temporal features, and below we consider possible contributing factors to changes in morbidity and mortality.…”

Section: Discussionmentioning

confidence: 99%

Global burden of hematologic malignancies and evolution patterns over the past 30 years

Zhang,

Wu,

Wang

et al. 2023

Blood Cancer J.

104

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Hematologic malignancies are among the most common cancers, and understanding their incidence and death is crucial for targeting prevention, clinical practice improvement, and research resources appropriately. Here, we investigated detailed information on hematological malignancies for the period 1990–2019 from the Global Burden of Disease study. The age-standardized incidence rate (ASIR), the age-standardized death rate (ASDR), and the corresponding estimated annual percentage changes (EAPC) were calculated to assess temporal trends in 204 countries and territories over the past 30 years. Globally, incident cases of hematologic malignancies have been increasing since 1990, reaching 1343.85 thousand in 2019, but the ASDR for all types of hematologic malignancies has been declining. The ASDR for leukemia, multiple myeloma, non-Hodgkin lymphoma, and Hodgkin lymphoma were 4.26, 1.42, 3.19, and 0.34 per 100,000 population in 2019, respectively, with Hodgkin lymphoma showing the most significant decline. However, the trend varies by gender, age, region, and the country’s economic situation. The burden of hematologic malignancies is generally higher in men, and this gender gap decreases after peaking at a given age. The regions with the largest increasing trend in the ASIR of leukemia, multiple myeloma, non-Hodgkin lymphoma, and Hodgkin lymphoma were Central Europe, Eastern Europe, East Asia, and Caribbean, respectively. In addition, the proportion of deaths attributed to high body-mass index continued to rise across regions, especially in regions with high socio-demographic indices (SDI). Meanwhile, the burden of leukemia from occupational exposure to benzene and formaldehyde was more widespread in areas with low SDI. Thus, hematologic malignancies remain the leading cause of the global tumor burden, with growing absolute numbers but sharp among several age-standardized measures over the past three decades. The results of the study will inform analysis of trends in the global burden of disease for specific hematologic malignancies and develop appropriate policies for these modifiable risks.

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Section: Discussionmentioning

confidence: 99%

Global burden of hematologic malignancies and evolution patterns over the past 30 years

Zhang,

Wu,

Wang

et al. 2023

Blood Cancer J.

104

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“…The genomic landscape of B-lymphoblastic leukemia/lymphoma (B-ALL) is complex and has various key driver mutations, making it one of the most challenging entities to characterize [ 2 , 5 ]. SVs are detected in over 75% of B-ALL cases and can be divided into two main prognostic groups depending on whether the outcomes are good or poor, as summarized in Table 1 [ 5 ].…”

Section: Key Somatic Svs Important For Hematologic Malignancymentioning

confidence: 99%

“…Recurrent SVs in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) are associated with distinctive clinicopathological features and have prognostic significance [1,11,[21][22][23]. Those that are identified most commonly in AML are balanced SVs such as t(8;21) (q22;q22.1), inv(16)(p13.1q22) or t(16;16)(p13.1;q22), t(15;17)(q24.1;q21.2), and t(9;11)(p21.3;q23.3), which create fusion genes encoding chimeric proteins that contribute to leukemogenesis [2]. In MDS, recurrent SVs provide presumptive molecular evidence for diagnosis and have the strongest prognostic impact in the Revised International Prognostic Scoring System (R-IPSS) with cytogenetic risk classification [16].…”

Section: Myeloid Neoplasmsmentioning

confidence: 99%

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Genomic technologies for detecting structural variations in hematologic malignancies

Jang

2024

Blood Res.

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Genomic structural variations in myeloid, lymphoid, and plasma cell neoplasms can provide key diagnostic, prognostic, and therapeutic information while elucidating the underlying disease biology. Several molecular diagnostic approaches play a central role in evaluating hematological malignancies. Traditional cytogenetic diagnostic assays, such as chromosome banding and fluorescence in situ hybridization, are essential components of the current diagnostic workup that guide clinical care for most hematologic malignancies. However, each assay has inherent limitations, including limited resolution for detecting small structural variations and low coverage, and can only detect alterations in the target regions. Recently, the rapid expansion and increasing availability of novel and comprehensive genomic technologies have led to their use in clinical laboratories for clinical management and translational research. This review aims to describe the clinical relevance of structural variations in hematologic malignancies and introduce genomic technologies that may facilitate personalized tumor characterization and treatment.

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“…Over the past 30 years, advancements in lab technology have had a substantial effect on the diagnosis and treatment of leukemia (35)(36)(37). Specific gene mutations and biomarkers used for classifying and predicting leukemia have made significant contributions to the precision of diagnosis (38). Changes in diagnosis and definition have a certain impact on the burden of disease, such as the requirement of having more than 20% leukemic primitive cells within the bone marrow for the diagnosis of AML.…”

Section: Discussionmentioning

confidence: 99%

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Molecular Diagnostic Testing for Hematopoietic Neoplasms

Cited by 12 publications

References 135 publications

Global burden of hematologic malignancies and evolution patterns over the past 30 years

Global burden of hematologic malignancies and evolution patterns over the past 30 years

Genomic technologies for detecting structural variations in hematologic malignancies

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