Related Experiment Video
Updated: Jun 13, 2026
09:46
Megakaryocyte Differentiation and Platelet Formation from Human Cord Blood-derived CD34+ Cells
Published on: December 27, 2017
Derivative (1;18)(q10;q10) in essential thrombocythemia
Taichi Azuma1, Jun Yamanouchi, Katsuji Inoue
1First Department of Internal Medicine, Ehime University School of Medicine, Toon, Japan. ataichi@m.ehime-u.ac.jp
Cancer Genetics and Cytogenetics
|April 27, 2010
Summary
A rare chromosomal abnormality, derivative (1;18)(q10;q10), was found in a patient with essential thrombocythemia (ET). This case also showed a Janus Kinase 2 (JAK2) V617F mutation, offering new insights into ET pathogenesis.
Area of Science:
- Hematology
- Cytogenetics
- Molecular Biology
Background:
- Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by an elevated platelet count.
- The Janus Kinase 2 (JAK2) V617F mutation is a common driver mutation in ET.
- Chromosomal abnormalities can play a role in the development and progression of myeloid disorders.
Observation:
- A 75-year-old woman with essential thrombocythemia presented with a novel chromosomal abnormality: derivative (1;18)(q10;q10).
- Allele-specific polymerase chain reaction confirmed the presence of the JAK2 V617F mutation in the patient's platelets.
- The derivative (1;18)(q10;q10) abnormality has been previously identified in other myeloid disorders.
Findings:
- This study reports the first association of the derivative (1;18)(q10;q10) chromosomal abnormality with essential thrombocythemia.
- The co-occurrence of this specific chromosomal abnormality and the JAK2 V617F mutation in ET is a novel finding.
- The presence of the JAK2 mutation was confirmed specifically within the platelet compartment.
Implications:
- The etiological role of the derivative (1;18)(q10;q10) abnormality in essential thrombocythemia remains to be elucidated.
- This case highlights the potential for complex chromosomal rearrangements in ET beyond common mutations.
- Further research is needed to understand the combined impact of this chromosomal abnormality and JAK2 mutation on ET development and prognosis.
Related Concept Videos
01:15Differentiation of Common Myeloid Progenitor Cells
Common myeloid progenitors (CMPs) are oligopotent cells that can differentiate into granulocytes and macrophages. Granulocytes and macrophages are essential for protecting the body against bacterial, viral, or fungal infections. They migrate from the bone marrow into the circulating blood to reach specific tissue sites where they differentiate and help in immune surveillance. However, they survive only for a few days and must be continuously made available to the organism to maintain a robust...
01:30Anticoagulant Drugs: Low-Molecular-Weight Heparins
Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
01:24Disorders of Hemostasis
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
01:29Venous Thrombosis III: Interprofessional Care
Venous thrombosis requires effective prevention and treatment strategies to improve patient outcomes and reduce potential complications.Prevention StrategiesHealthcare providers must prioritize preventing venous thromboembolism (VTE) for all adult patients upon admission. Interventions depend on bleeding and thrombosis risk, medical history, current medications, diagnoses, planned procedures, and patient preferences. Patients on bed rest should change positions every two hours and, if not...
01:26The Derivative as a Function
A derivative quantifies how a function changes in response to variations in its input. It provides a localized rate of change, representing the slope of the tangent line to the function at any given point. When this process is applied systematically across the entire domain of the function, it yields a new function—the derivative function—which encodes the rate of change at every point. This concept is central to calculus and essential for understanding the behavior of dynamic systems in both...
01:18Anticoagulant Drugs: Vitamin K Antagonists and Direct Oral Anticoagulants
Oral anticoagulants are vital tools in preventing and treating blood clotting disorders. This diverse class of medications can be categorized as vitamin K antagonists, exemplified by warfarin, and direct thrombin inhibitors (DTIs), such as dabigatran, as well as factor Xa inhibitors, including rivaroxaban.
Warfarin, a prominent vitamin K antagonist family member, exerts its effect by inhibiting the enzyme VKORC1 (vitamin K epoxide reductase complex 1). By hindering this enzyme, warfarin...
Warfarin, a prominent vitamin K antagonist family member, exerts its effect by inhibiting the enzyme VKORC1 (vitamin K epoxide reductase complex 1). By hindering this enzyme, warfarin...