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. 2013 Sep;27(9):1943-6.
doi: 10.1038/leu.2013.179. Epub 2013 Jun 14.

Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies

I Gómez-Seguí, H Makishima, A Jerez, K Yoshida, B Przychodzen, S Miyano, Y Shiraishi, H D Husseinzadeh, K Guinta, M Clemente, N Hosono, M A McDevitt, A R Moliterno, M A Sekeres, S Ogawa, J P Maciejewski

Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies

I Gómez-Seguí et al. Leukemia. 2013 Sep.
No abstract available

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Conflict of interest statement

CONFLICT OF INTEREST

The authors declare no conflict of interest.

Figures

Figure 1.
Figure 1.
Functional domains of RIT1, location of mutations and amplifications. Mutations are located in conserved sites among species. Amino acids in which a mutation was found are shown in a red rectangle. Sanger sequencing of tumor and CD3+ fraction of the two index cases with RIT1 mutations. GTP-binding domains appear in green, whereas Switch effector domains appear in blue, both with codifying amino acids. RIT1 is located at 1q22 (red bar). Blue bars show the amplified region in each patient.
Figure 2.
Figure 2.
(a) Relative RIT1 expressions in patients with mutations, amplifications or wild-type gene. (b) Clinical distribution of RIT1 anomalies in myeloid neoplasms. (c) Survival curve of patients with MDS or MDS/MPN diagnosis with and without RIT1 abnormalities. (d) Molecular associations of Ras mutants in a cohort of patients studied by whole-exome sequencing, that appeared to be mutually exclusive with themselves and other mutations in genes of signaling pathways and to be related to mutations in genes involved in epigenetic regulation.
See this image and copyright information in PMC

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