Case Report: Haemopoietic stem cell transplantation in refractory paediatric RAS-associated lymphoproliferative...

Area of Science:

• Oncology
• Hematology
• Immunology

Background:

• RAS-associated lymphoproliferative disorder (RALD) is a rare orphan disease.
• It is characterized by acquired gain-of-function mutations in KRAS or NRAS.
• Autoimmune cytopenia is the most common presentation, often responsive to immunosuppression.

Purpose of the Study:

• To describe two cases of RALD with immunosuppression-refractory autoimmunity.
• To report outcomes of hematopoietic stem cell transplantation (HSCT) in these patients.
• To review existing literature on HSCT for RALD and evaluate targeted therapy.

Main Methods:

• Case report of two RALD patients with refractory autoimmunity.
• Hematopoietic stem cell transplantation (HSCT) performed on both patients.
• Literature review of HSCT in RALD and analysis of targeted MEK inhibitor therapy.

Main Results:

• Two RALD cases showed autoimmunity refractory to multiagent immunosuppression.
• Successful HSCT was performed, with insights into transplant complications and course.
• Literature review identified three additional HSCT cases, primarily for malignant transformation.
• Initial experience with MEK inhibitor therapy in RALD is reported.

Conclusions:

• RALD with refractory autoimmunity presents unique challenges.
• HSCT can be a viable option for recalcitrant cases, despite specific complications.
• Targeted therapy, such as MEK inhibitors, may play a role in the RALD treatment paradigm.