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Pan-myeloid Differentiation of Human Cord Blood Derived CD34+ Hematopoietic Stem and Progenitor Cells
Published on: August 9, 2019
A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease
Eline J M Bertrums1,2, Arjan Buijs3, Martine van Grotel1
1Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Abstract:
Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).32 Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisomy 21 are rare, and recurrent genetic aberrations that aid in clinical decision-making are scarcely described. We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31.1-5q31.3 and 8q23.2q24).
Insights
Transient myeloproliferative disorder (TMD) is a rare leukemia in newborns. This study details a TMD case without trisomy 21, revealing novel genetic deletions that could aid diagnosis.
Area of Science:
- Hematology
- Pediatric Oncology
- Genetics
Background:
- Transient myeloproliferative disorder (TMD) is a leukemia primarily affecting newborns.
- In Down syndrome, TMD is known as transient abnormal myelopoiesis (TAM).
- Transient myeloproliferative disorder cases lacking trisomy 21 are uncommon, with few described genetic aberrations.
Observation:
- A patient with transient myeloproliferative disorder (TMD) but without trisomy 21 or GATA1 mutation was analyzed.
- Single-nucleotide polymorphism analysis was performed on the leukemic blasts.
Findings:
- A novel, combined submicroscopic deletion was identified in the patient's leukemic blasts.
- The deletion spans chromosomal regions 5q31.1-5q31.3 and 8q23.2q24.
Implications:
- This finding expands the understanding of genetic alterations in TMD beyond trisomy 21.
- The identified novel deletion may serve as a potential biomarker for specific TMD subtypes.
- Further research into these genetic aberrations could improve diagnostic and clinical decision-making for TMD.
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