Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3 Mutation

Area of Science:

• Genetics
• Oncology
• Pathology

Background:

• Rosai-Dorfman disease (RDD) commonly presents with lymphadenopathy.
• Somatic mutations in RAS/MAP kinase pathways are frequent in RDD, while germline mutations are rare.
• Histiocytosis/Lymphadenopathy Plus Syndrome is linked to SLC29A3 gene mutations.

Observation:

• A patient with RDD and exocrine pancreatic insufficiency was identified.
• This patient harbored a homozygous germline mutation in the SLC29A3 gene.
• The patient's RDD also showed a somatic mutation in lymphoid enhancer binding factor 1 (LEF1).

Findings:

• The study identified a rare homozygous germline SLC29A3 mutation in a patient with RDD and pancreatic insufficiency.
• The presence of both RDD and pancreatic insufficiency suggests a potential association with SLC29A3 mutations.
• A somatic LEF1 mutation was also observed in the RDD of this patient.

Implications:

• The concurrence of RDD and pancreatic insufficiency warrants investigation for SLC29A3 mutations.
• Additional case studies are required to validate the association between SLC29A3 mutations and this clinical presentation.
• The potential role of LEF1 mutations in the pathogenesis of Rosai-Dorfman disease requires further exploration.