Genetic basis for iMCD-TAFRO

Oncogene. 2020 Apr;39(15):3218-3225. doi: 10.1038/s41388-020-1204-9. Epub 2020 Feb 12.

Abstract

TAFRO syndrome, a clinical subtype of idiopathic multicentric Castleman disease (iMCD), consists of a constellation of symptoms/signs including thrombocytopenia, anasarca, fever, reticulin fibrosis/renal dysfunction, and organomegaly. The etiology of iMCD-TAFRO and the basis for cytokine hypersecretion commonly seen in iMCD-TAFRO patients has not been elucidated. Here, we identified a somatic MEK2P128L mutation and a germline RUNX1G60C mutation in two patients with iMCD-TAFRO, respectively. The MEK2P128L mutation, which has been identified previously in solid tumor and histiocytosis patients, caused hyperactivated MAP kinase signaling, conferred IL-3 hypersensitivity and sensitized the cells to various MEK inhibitors. The RUNX1G60C mutation abolished the transcriptional activity of wild-type RUNX1 and functioned as a dominant negative form of RUNX1, resulting in enhanced self-renewal activity in hematopoietic stem/progenitor cells. Interestingly, ERK was heavily activated in both patients, highlighting a potential role for activation of MAPK signaling in iMCD-TAFRO pathogenesis and a rationale for exploring inhibition of the MAPK pathway as a therapy for iMCD-TAFRO. Moreover, these data suggest that iMCD-TAFRO might share pathogenetic features with clonal inflammatory disorders bearing MEK and RUNX1 mutations such as histiocytoses and myeloid neoplasms.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Castleman Disease / genetics*
  • Castleman Disease / pathology
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • DNA Mutational Analysis
  • Humans
  • Lymph Nodes / pathology
  • MAP Kinase Kinase 2 / genetics*
  • MAP Kinase Signaling System / genetics
  • Male
  • Young Adult

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human
  • MAP2K2 protein, human
  • MAP Kinase Kinase 2

Supplementary concepts

  • Multi-centric Castleman's Disease