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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Integrated genomics has identified a new AT/RT-like yet INI1-positive brain tumor subtype among primary pediatric embryonal tumors

Fig. 1

Identification of INI1(+) AT/RT-like cases among Taiwanese pediatric embryonal brain tumor cases. (a) Hematoxylin and eosin stain and INI1 stain of pediatric AT/RT and AT/RT-like cases, one with negative INI1 immunoreactivity (left) and one with positive INI1 immunoreactivity (right; anti-INI1, 400x). (b) Schematic representation of the results of INI1 gene sequencing. Patient A09 has only one mutated allele in the AT/RT: a single C deletion (in bold) was detected just before the INI1 stop codon (TAA; underlined). This resulted in a frame-shift mutation. In patient L01 with an INI1(+) AT/RT-like tumor, a single G insertion (in bold) was detected in the 3′UTR region of one INI1 allele. No protein abrogation was expected in this case. ORF indicates the open reading frame. (c) An examination of INI1 mRNA expression in tumor tissues by RT-PCR. (d) A PCA plot was drawn according to mRNAs that are differentially expressed between MB, AT/RT, and AT/RT-like cases (q < 10−5). INI1(+) AT/RT-like tumors have distinct mRNA expression profiles similar to those of AT/RTs and MBs. (e) Gene expression analysis of Taiwanese INI1(+) AT/RT-like cases and another published Caucasian MB data set. A PCA plot drawn according to the whole transcriptome again showed that INI1(+) AT/RT-like tumors were different from MBs and INI1(−) AT/RTs (A: Wnt subgroup; B: SHH subgroup; C: subgroup which expressed neuronal differentiation characteristic; D: subgroup which expressed neuronal and photoreceptor characteristic; E: subgroup which expressed photoreceptor characteristic and increased protein biosynthesis/cell cycle)

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