Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report

摘要

a Key clinical laboratory findings with age-specific reference intervals. Abnormal values are in bold. b Sanger sequencing of KRAS from DNA extracted from healthy control, patient blood, and a patient buccal swab. This identified a somatic variant in KRAS ({"type":"entrez-nucleotide","attrs":{"text":"NM_004985.5","term_id":"1621309831","term_text":"NM_004985.5"}}NM_004985.5:c.37G > T(p.G13C)) originally discovered by whole exome sequencing on DNA derived from blood. c AMG 510 is a selective KRAS p.G12C inhibitor. AMG-510 binding to p.G13C KRAS was modelled using the crystallographic data of covalently-bound AMG-510 and p.G12C KRAS from PDB 6OIM [10]. The p.G13C substitution were introduced using Coot [11]. Cysteine substitution in position 12 instead of 13 of KRAS would likely affect covalent bond formation in the P2 pocket