Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and hepatocellular carcinoma

Figures & data

Table I. Primer sequences used for PCR amplification of individual exons of PHF6.

Exon	Sense primer sequences (5′–3′)	Antisense primer sequences (5′–3′)	Product length (bp)
2	CTTAAAGTGGCATTCTAAAGG	TTTCAAGGTCTCTGTTGCT	205
3	CCATTTAAATTTGACATCTT	AGGCAGAAATACCAACTT	206
4	TTTGTCGTTTTGCTGTAG	CCCAAAGAAAGTATTATTGTT	207
5	AGTGAATTGGGTGAAGTGTA	AAACGTGGCTAAATGATGT	161
6	TTTAAGCAGCTGATTTAGAAGAA	ATGGTGCAACAAAAGTAAGAAT	219
7	TTTTTCTTTTACATTTGCAGAGA	ATTGGGCTTAAAAGAACCAT	190
8	TTTCCTGCATTTTTCTTCTCTA	AAAGCAGCAAATCAAGTGTAAT	179
9	GAAATACGGCTTACGATTAT	GTTTAGGGAAATAGACAACTGT	205
10	TTTTGAGATTTTTGTCTTTC	TCCCATATAATTAACTTTCATAC	183

Figure 1. Representative SSCP and DNA sequencing of PHF6 gene in the cancers. SSCP (A–C) and DNA sequencing analysis (D–F) of PHF6 gene from a T-ALL, an AML and a HCC in cancer (Lane T) and normal tissues (Lane N). A–C. The arrows in lane T indicate aberrant bands as compared with SSCP of normal tissues (lane N). D–F. DNA sequencing of the aberrant SSCP bands in A, B and C show four base insertions in D (c.90_91insCCCG), one base duplication in E (c.27dupA) and a substitution of a base in F (c.673C > T), respectively.

Table II. Summary of PHF6 mutations.

Case #	Type of cancer	Age/sex	Other features	Location	Nucleotide change (predicted amino acid change)
CLEU2	T-ALL	F/12	NOTCH1 mutation (+) JAK1 mutation (−)	Exon 2	c.90_91insCCCG (p.L31PfsX6)
CLEU3	T-ALL	M/9	NOTCH1 mutation (+) JAK1 mutation (−)	Intron 9	c.968 + 2T_968 + 5GdelTAAG (undetermined)
CLEU4	T-ALL	M/8	NOTCH1 mutation (−) JAK1 mutation (−)	Exon 7	c.653_667delGGGAGGAAGAAAATGinsCCCTTTAAAGGGA (p.G218AfsX3)
LEU23	T-ALL	M/35	NOTCH1 mutation (+) JAK1 mutation (−)	Exon 8	c.735M736dupTT (p.S246FfsX34)
LEU120	T-ALL	M/18	NOTCH1 mutation (+) JAK1 mutation (+)	Exon 7	c.673C > T (p.R225X)
LEU136	T-ALL	M/18	NOTCH1 mutation (+) JAK1 mutation (+)	Exon 4	c.267_268insTTAGGACC (p.A90LfsX10)
LEU146	T-ALL	M/39	NOTCH1 mutation (−) JAK1 mutation (−)	Exon 9	c.902dupA (p.Y301X)
LEU237	T-ALL	F/37	NOTCH1 mutation (+) JAK1 mutation (−)	Intron 9	c.968 + 1G > A (undetermined)
LEU22	AML	M/48	Acute monocytic leukemia	Exon 2	c.83_101delGTGGACAGTTACTAATATCinsAT (P.C28YfsX2)
LEU122	AML	M/60	AML minimally differentiated	Exon 2	c.27dupA (p.K9RfsX12)
HCC32	HCC	M/53	Edmondson grade III HBV infection (+)	Exon 7	c.673C > T (p.R225X)