Myeloproliferative disorder in a patient with RIT1 -associated Noonan
syndrome: a case report and literature review
Abstract
Myeloproliferative disorder (MPD) is a rare complication in individuals
with Noonan syndrome (NS) and an RIT1 pathogenic variant; only
three cases have previously been reported. However, this condition can
be life-threatening. In the present case, a neonate with a massive
capillary leak and compromised general condition caused by aggressive
MPD, we employed cytoreductive chemotherapy using low-dose cytarabine,
which proved to be a valuable therapeutic intervention. For patients
presenting with suspected MPD and exhibiting features associated with NS
early in life, genetic testing that includes sequencing of RIT1
may confer significant benefits to diagnosis and disease management.