[Aplastic anemia in children: recent advances in diagnosis and treatment]

Area of Science:

• Pediatric Hematology
• Oncology
• Genetics

Background:

• Pediatric aplastic anemia (AA) is a rare bone marrow failure with unique diagnostic and treatment considerations compared to adult AA.
• Distinguishing acquired AA from inherited bone marrow failure syndromes is critical for appropriate management.
• Current survival rates for pediatric AA exceed 90% with established therapies.

Purpose of the Study:

• To review recent advancements in the diagnosis and treatment of pediatric aplastic anemia.
• To highlight the importance of genetic analysis in guiding treatment decisions.
• To discuss evolving hematopoietic cell transplantation (HCT) strategies for pediatric AA.

Main Methods:

• Review of current literature and recent data on pediatric aplastic anemia.
• Emphasis on diagnostic approaches including morphological evaluation and genetic analysis via next-generation sequencing.
• Analysis of therapeutic strategies, focusing on immunosuppressive therapy and hematopoietic cell transplantation (HCT).

Main Results:

• Genetic analysis, particularly next-generation sequencing, plays an increasingly vital role in diagnosis and treatment planning.
• Hematopoietic cell transplantation (HCT) has seen significant improvements, including better conditioning regimens and expanded donor options (matched unrelated donors, unrelated cord blood, haploidentical).
• Upfront HCT from matched unrelated donors is now a successful strategy.

Conclusions:

• Accurate diagnosis, incorporating genetic insights, is paramount for effective pediatric aplastic anemia management.
• Modernized HCT approaches have further enhanced survival and treatment outcomes.
• Considering long-term sequelae and hematopoietic recovery is essential when planning pediatric AA treatment.