Detection of NPM1 exon 12 mutations and FLT3 – internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia

Tan, Angela YC; Westerman, David A; Carney, Dennis A; Seymour, John F; Juneja, Surender; Dobrovic, Alexander

doi:10.1186/1756-8722-1-10

Table 1 Patient demographics and list of NPM1 and FLT3-ITD mutations detected

From: Detection of NPM1 exon 12 mutations and FLT3 – internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia

#	Age	Sex*	FAB	Prior Disease†	HRM – NPM1‡	Seq – NPM1§	HRM – FLT3- ITD	Seq-FLT3-ITD\|
1	64	M	M1	Nil	Normal	Neg	Normal	Neg
2	63	M	M6	MDS	Normal	Neg	Normal	Neg
3	36	M	M2	Nil	Normal	Neg	Normal	Neg
4	69	M	basophilic leukemia	RAEB-T	Normal	Neg	Normal	Neg
5	68	M	M2	Nil	Normal	Neg	Normal	Neg
6	81	M	M5	Nil	Aberrant	860_863dup TCTG	Aberrant	1754_1798dup
7	19	M	M2	Nil	Normal	Neg	Normal	Neg
8	68	M	M6	Nil	Normal	Neg	Normal	Neg
9	72	M	M4	CMML	Normal	Neg	Normal	Neg
10	58	F	M2	Nil	Aberrant	860_863dup TCTG	Normal	Neg
11	66	F	M4/5	MDS transformed	Aberrant	860_863dup TCTG	Normal	Neg
12	51	F	M4	Nil	Aberrant	860_863dup TCTG	Normal	Neg
13	42	F	M2	MDS/pelvic chloroma	Normal	Neg	Normal	Neg
14	53	M	M4	Nil	Aberrant	860_863dup TCTG	Normal	Neg
15	59	F	M1	Nil	Aberrant	860_863dup TCTG	Aberrant	1811_1837dup 1838_1867ins
16	69	M	M1	Nil	Normal	Neg	Normal	Neg
17	52	M	M1	MDS	Normal	Neg	Normal	Neg
18	74	M	M1	Nil	Normal	Neg	Normal	Neg
19	66	M	M0	ca prostate	Aberrant	860_863dupTCTG	Aberrant	1715A>G
20	52	M	M1	MDS	Normal	Neg	Normal	Neg
21	75	M	M1	MDS	Normal	Neg	Normal	Neg
22	56	M	M0	NHL on TX	Normal	Neg	Normal	Neg
23	18	F	M1	Nil	Normal	Neg	Normal	Neg
24	73	M	M4	Nil	Normal	Neg	Normal	Neg
25	56	F	M1	therapy related	Normal	Neg	Normal	Neg
26	53	F	M4	Nil	Aberrant	860_863dup TCTG	Normal	Neg
27	64	M	M0	MDS	Normal	Neg	Normal	Neg
28	63	F	M5a	Nil	Aberrant	861_864ins CTGC	Normal	Neg
29	71	F	M5b	MDS transformed	Aberrant	860_863dup TCTG	Aberrant	1754_1789dup
30	89	F	M6	Nil	Normal	Neg	Normal	Neg
31	28	F	M4	Nil	Normal	Neg	Normal	Neg
32	69	F	basophilic leukemia	Nil	Normal	Neg	Normal	Neg
33	36	F	M5b	Nil	Normal	Neg	Aberrant	1783_1812dup
34	54	M	M1	Nil	Normal	Neg	Normal	Neg
35	52	M	M1	Nil	Normal	Neg	Normal	Neg
36	82	M	M4	Nil	Normal	Neg	Aberrant	1786G>C 1787_1818dup
37	68	M	M5b	CMML	Normal	Neg	Normal	Neg
38	61	F	M4	Nil	Aberrant	860_863dup TCTG	Normal	Neg
39	49	M	M4	Nil	Normal	Neg	Aberrant	ins ? bp ¶\|
40	83	F	M1	Nil	Aberrant	860_863dup TCTG	Normal	Neg
41	72	F	M4	CMML	Normal	Neg	Normal	Neg
42	57	M	M4	Nil	Normal	Neg	Normal	Neg
43	42	M	M1	Nil	Normal	Neg	Aberrant	1741_1831dup 1832_1842ins
44	49	M	M6	Nil	Normal	Neg	Normal	Neg

† MDS = myelodysplastic syndrome; RAEB-T = refractory anemia with excess of blasts in transformation; CMML = chronic myelomonocytic leukemia; Ca prostate = prostate cancer; NHL = Non-Hodgkin lymphoma.
‡Normal = normal melt profile, Aberrant = abnormal melt profile.
§Neg = no mutation detected in the sequence; numbering according to NPM1 reference sequence NM_002520.5
| Numbering according to FLT3 reference sequence NM_004119.2 (5'UTR not included)
¶ The size of the internal tandem duplication could not be determined due to the low levels of mutant peaks in the sequence,

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ISSN: 1756-8722

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