IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome.
Bottom Line: We report on a 24-year-old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma.We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues.This case is unique and supports the IDH2-dependent genetic pathway and second-hit model for gliomagenesis.
Affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.Show MeSH
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Mentions: Genomic DNA was extracted from formalin-fixed, paraffin-embedded tissue sections extracted by surgery using MightyAmp for FFPE (Takara Bio, Shiga, Japan) according to the manufacturer's instructions and with the informed consent of the patient. We performed mutation analyses of IDH1, IDH2 and TP53 genes (Data S1). We identified the IDH2 mutation (c.516G>T encoding R172S) in the enchondroma, hemangioma and anaplastic astrocytoma tissues, and the same IDH2-R172 mutation was detected in all these tissues (Fig.2a). Subsequently, the PCR products were subcloned into pCR4-TOPO vectors, and 14 clones (enchondroma), 17 clones (hemangioma) and 69 clones (astrocytoma) were sequenced to confirm the IDH2-R172S mutations (Data S1). As a result, 28.6% (4/14), 11.8% (2/17) and 2.9% (2/69) of each tissue, respectively, were shown to carry the IDH2-R172S mutation, although these percentages do not necessarily imply those of IDH2-R172S-possessing tumor cells (Fig.2b). Furthermore, missense mutations (562C>A encoding L188M and 1118A>G encoding K373R) of the TP53 gene were identified in the astrocytoma tissues, but not in the enchondroma or hemangioma tissues (Table1, Fig. S1).
Affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.