MLL-PTD in a 13-year-old patient with blast phase myeloproliferative neoplasm: A case report

Zhipeng He1, Bixin Wang, Lili Chen

  • 1Department of Hematology, Union Hospital, Fujian Medical University, Fujian Institute of Hematology, Fujian Provincial Key Laboratory of Hematology, Fuzhou, China.

Medicine
|November 16, 2018
PubMed
Abstract

Insights

Partial tandem duplications of the MLL gene (MLL-PTD) may drive leukemic transformation in myeloproliferative neoplasm (MPN) to acute myeloid leukemia (AML). Allogeneic stem cell transplant is a potential treatment for MPN-AML with MLL-PTD.

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Myeloproliferative neoplasms (MPN) carry an increasing risk of transformation to acute myeloid leukemia (AML).
  • Post-MPN AML exhibits poor clinical outcomes, necessitating research into underlying mechanisms and treatments.
  • Partial tandem duplications of the MLL gene (MLL-PTD) are known in de novo AML but not previously reported in MPN blast phase.

Observation:

  • This study details a patient with JAK2V617F positive MPN who developed JAK2V617F negative acute monocytic leukemia.
  • The patient presented with fatigue and splenomegaly, indicative of MPN progression.

Findings:

  • MLL-PTD was identified during the progression of JAK2V617F positive MPN to JAK2V617F negative AML.
  • The patient underwent chemotherapy and allogeneic hematopoietic stem cell transplantation (Allo-SCT).
  • Despite achieving complete remission twice, the patient experienced two relapses, with a relapse-free survival of only 3 months, and died approximately 24 months post-diagnosis.

Implications:

  • MLL-PTD may represent a novel mechanism in MPN blast phase and aid in diagnosing post-MPN AML.
  • Allo-SCT could be a viable therapeutic option for post-MPN AML harboring MLL-PTD.
  • Further research into novel therapeutic strategies is crucial for improving outcomes in this patient population.

Related Concept Videos

Data Reporting and Recording01:24

Data Reporting and Recording

Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
5.4K
Carbon-13 (¹³C) NMR: Overview01:10

Carbon-13 (¹³C) NMR: Overview

Carbon-13 is a naturally occurring NMR-active isotope of carbon with a low natural abundance of 1.1%. In contrast, carbon-12 is the most abundant isotope of carbon with zero nuclear spin. Therefore, it is NMR inactive. The gyromagnetic ratio of carbon-13 is smaller than that of protons. As a result, carbon-13 resonance is about 6000 times weaker than proton resonance. For a given magnetic field strength, the resonance frequency of carbon-13 is about one-fourth of the resonance frequency for...
7.7K
Phase Diagrams02:39

Phase Diagrams

A phase diagram combines plots of pressure versus temperature for the liquid-gas, solid-liquid, and solid-gas phase-transition equilibria of a substance. These diagrams indicate the physical states that exist under specific conditions of pressure and temperature and also provide the pressure dependence of the phase-transition temperatures (melting points, sublimation points, boiling points). Regions or areas labeled solid, liquid, and gas represent single phases, while lines or curves represent...
50.2K
Phase Transitions02:31

Phase Transitions

Whether solid, liquid, or gas, a substance's state depends on the order and arrangement of its particles (atoms, molecules, or ions). Particles in the solid pack closely together, generally in a pattern. The particles vibrate about their fixed positions but do not move or squeeze past their neighbors. In liquids, although the particles are closely spaced, they are randomly arranged. The position of the particles are not fixed—that is, they are free to move past their neighbors to...
23.2K
Types of Reports I: Hands-off Report01:25

Types of Reports I: Hands-off Report

A hand-off report, also known as a change-of-shift report, is a crucial nursing process that ensures the smooth transition of patient care responsibilities between nursing staff.
Following are the key components and categories of hand-off reports:
Purpose and Process:
1.5K
Inductance: Single-Phase And Three-Phase Line01:28

Inductance: Single-Phase And Three-Phase Line

Understanding the inductance of transmission lines is crucial for efficient design and operation in electrical power systems. This discussion delves into the inductance characteristics of single-phase two-wire and three-phase three-wire transmission lines with equal phase spacing.
Single-Phase Two-Wire Line:
A single-phase line consists of two solid cylindrical conductors, denoted as x and y. Each conductor carries phasor currents ix and iy, respectively. Given that the sum of these currents is...
628