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Related Concept Videos

Disorders of Leukocytes01:27

Disorders of Leukocytes

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Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
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Murine Model of Leukemia Relapse to Induction Chemotherapy for Acute Lymphoblastic Leukemia
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Familial acute lymphoblastic leukemia.

Takaya Moriyama1

  • 1Department of Pediatrics, Mie University Graduate School of Medicine.

[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|August 9, 2016
PubMed
Summary

Inherited genetic variations, particularly in PAX5 and ETV6, significantly increase acute lymphoblastic leukemia (ALL) susceptibility. This review highlights the need for targeted approaches for familial ALL cases and carriers.

Area of Science:

  • Genetics
  • Oncology
  • Hematology

Background:

  • Somatic genomic alterations are known drivers of acute lymphoblastic leukemia (ALL).
  • Genome-wide association studies (GWAS) increasingly identify inherited genetic variations (germline) linked to ALL susceptibility and onset.
  • Familial cases involving hematopoietic transcriptional factors (PAX5 and ETV6) suggest a higher prevalence of inherited predisposition than previously recognized.

Purpose of the Study:

  • To review the role of inherited genetic variants in familial acute lymphoblastic leukemia (ALL).
  • To focus on familial ALL associated with mutations in PAX5 and ETV6.
  • To emphasize the need for specific management strategies for familial ALL and carriers of these germline variants.

Main Methods:

  • Literature review focusing on familial ALL.

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  • Analysis of studies investigating germline mutations in PAX5 and ETV6.
  • Synthesis of current knowledge on genetic predisposition to ALL.
  • Main Results:

    • Germline variations in PAX5 and ETV6 are significant contributors to familial ALL.
    • Inherited genetic factors play a more substantial role in ALL etiology than previously assumed.
    • These genetic predispositions have lifelong implications for affected individuals and families.

    Conclusions:

    • Inherited genetic factors, especially mutations in PAX5 and ETV6, are crucial in familial ALL.
    • Lifelong management and targeted interventions are necessary for familial ALL cases and carriers.
    • Further research into germline predisposition is essential for improving ALL patient outcomes.