To be noted that NUP98 gene was found rearranged but HOXC genes were not tested or neither NUP98 nor HOX genes were tested in 5 cases (Roulston et al., 1998; and Kobzev et al., 2004 are identical cases), all of which were treatment-related MDS or AML (t-MDS or t-AML): a 9 mths old boy, 3 female patients aged 39 yrs, 41 yrs and 55 yrs, and one other male patient (Roulston et al., 1998; Nishiyama et al., 1999; Wong et al., 1998; Masuya et al., 2002; Kobzev et al., 2004; Schmidt-Hieber et al., 2010). Previous diseases were Hodgkins disease in 2 cases, AML and breast cancer in one case each.
As noted by La Starza et al., 2009, a NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) can occur without HOXC cluster gene involvement.

All the 7 cases with NUP98/HOXC hybrid gene were de novo acute myeloid leukemia: one AML without maturation (M1), four AML with maturation (M2), one acute myelomonocytic leukaemia (M4) and one acute monoblastic/monocytic leukaemia (M5b).

Sex ratio was 2M/2F in HOXC11 cases and 0M/3F in HOXC13 cases; more cases are needed to determine if this discrepancy is coincidental/stochastic. Patients were aged 14, 22, 40 and 41 yrs in HOXC11 cases and 47, 57, 59 yrs in HOXC13 cases

Two cases were in complete remission (5 mths+, NA), and four cases were reported to have died (8 mths, 8mths, 19 mths, NA).

The NUP98 breakpoint was between exon 11 and 12 in three HOXC11 cases (Gu et al., 2003), and between exon 14 and 15 in the other HOXC11 case (Taketani et al., 2002). It was found between exon 15 and 16 in two HOXC13 cases (La Starza et al., 2003; Panagopoulos et al., 2003). The HOXC11 breakpoint was between exon 1 and 2 (Gu et al., 2003), or in exon 1 (Taketani et al., 2002). The HOXC13 breakpoint was between exon 1 and 2 (La Starza et al., 2003; Panagopoulos et al., 2003).

fuses the N-term NUP98 to the C-term of HOXC11 or HOXC13. This correspond to 469 aa or 628 aa from NUP98 in the HOXC11 cases and 715 aa in the HOXC13 cases fused to 77 aa from HOX11 (Gu et al., 2003), or 120 aa from HOX13 (Taketani et al., 2002).

NUP98/HOXC11

NUP98/HOXC13

t(11;12)(p15;q13) with NUP98 and HOXC11 involvement has been described in 4 cases(Taketani et al., 2002; Gu et al., 2003), and with NUP98 and HOXC13 involvement in 3 additional cases (La Starza et al., 2003; Panagopoulos et al., 2003; Tosic et al., 2009).