TABLE 2

FROM:

Cryptic insertion and translocation or nondividing leukemic cells disclosed by FISH analysis in infant acute leukemia with discrepant molecular and cytogenetic findings

N Watanabe, H Kobayashi, O Ichiji, M A Yoshida, A Kikuta, Y Komada, I Sekine, Y Ishida, Y Horiukoshi, Y Tsunematsu, M Yano, H Nakadate and Y Kaneko

Table 2. Clinical findings, karyotypes and the MLL status in 13 acute leukemia infants with discrepancy between cytogenetic and Southern blot findings

				Methods used to detect 11q23/MLL rearrangements
				Southern blot	FISH a
Patient No.	Age/sex	FAB	Karyotype		Interphase	Metaphase	RT–PCR	Interpretation after FISH analysis
Group B: MLL-R/11q23 translocation
296	8m/M	L1	46,XY	R	R (68%)	N (0/4)	Not detected	Leukemic cells were not dividing
942	3d/M	L1	46,XY	R	R (77%)	N (0/5)	Not detected	Leukemic cells were not dividing
1856	7m/M	L1	46,XY	R	R (90%)	N (0/10)	Not detected	Leukemic cells were not dividing
2151	8m/F	M5b	46,XX	R	R (12%)	N (0/20)	Not detected	Leukemic cells were not dividing
2155	9m/F	L1	46,XX	R	R (77%)	N (0/10)	Not detected	Leukemic cells were not dividing
1477	5m/F	M5b	46,XX	R	R (96%)	R (7/10)	Not detected	46,XX,inv ins(10;11)(p12;q23q23)
2054	2m/F	L1	46,XX	R	R (86%)	R (8/10)	MLL–AF4	46,XX,ins(4;11)(q21;q23q23)
1494	2m/F	M5	46,XX,t(6;19)(q21;p13)	R	R (49%)	R (8/10)	Not detected	46,XY,t(6;19)(q21;p13),t(11;19)(q23;p13)
2134	8m/M	M4	46,XY,-1,der(11)t(1;11)(q21;q13),+mar	R	R (74%)	R (10/10)	MLL–AF1q	46,XY,der(11)t(1;11)(11pter11q13::11q2311q23::1q21
								1qter),der(1)t(1;11)(1p121q21::11q2311q25::1p12
								1p32::11q1311q23::1p321pter)
M201	9m/M	M4	46,XY,-1,der(11)t(1;11)(q21;q13),+mar	R	ND	ND	MLL–AF1q	46,XY,der(11)t(1;11)(11pter11q13::11q2311q23::1q21
								1qter), der(1)t(1;11)(1p121q21::11q2311q25::1p12
								1p32::11q1311q23::1p321pter)
1982	1m/F	L1	47,XX,+6,add(17)(q21)	R	N (0.5%)	NM	Not detected	Partial tandem duplication of MLL?
Group C: MLL-G/11q23 translocation
2060	9m/M	M5a	48,XY,+8,t(11;19)(q23;q13),+mar	G	N (0%)	N (0/20)	ND	Breakpoint is distal to the MLL locus
331	6m/M	L1	46,XY,t(4;11)(q21;q23)	G	R (43%)	N (0/10)	Not detected	Breakpoint may be located inside the MLL locus, but outside of its bcr

 m, months; d, days; R, rearranged; G, germline; N, not rearranged; ND, not done; NM, no metaphase cells; bcr, breakpoint cluster region.

^a In all, 200 cells were counted for interphase FISH analysis, and 4–20 cells were counted for metaphase FISH analysis.