| Disease |
Acute lymphoblastic leukemia (ALL), virtually all cases display a B-cell phenotype (except 1 T-cell ALL described by Heerema et al., 1998). |
| Epidemiology | 34 patients (17 males and 17 females) aged 1 to 67 years (median 6 years); among them 17 patients were pediatric cases aged 1 to 16 years (median 4 years) (Privitera et al., 1992; Dastugue et al., 1992 ; Pui et al., 1993; Kempski et al., 1997; Heinonen et al., 1999; Silva et al., 2002; Chan et al., 2003; Kristensen et al., 2003; Russell et al., 2009; Lundin et al., 2014; Olsson et al., 2015; Liu et al., 2016). Up to half of these patients were Down syndrome (DS) cases (n=16) aged 1 to 13 years (Kalwinsky et al., 1990; Dastugue et al., 1992 ; Pui et al., 1993; Kempski et al., 1997; Heinonen et al., 1999; Mullighan et al., 2009; 2009; Russell et al., 2009; Lundin et al., 2014;). Adult patients were 20 to 59 years old (median 38 years) (from the known data) (Fuscaldo et al., 1981; Foa et al., 2003; Yamamoto et al., 2004; Chapiro et al., 2010; Eyre et al., 2012; Safavi et al., 2015; Yasuda et al., 2016) (Table 1).
Table 1. Clinical and karyotypic data of ALL patients with +X as a sole anomaly.
| | Sex/Age | Karyotype | | 1 | F/59 | 47,XX,+X | | 2 | M | 48,XY,+X,+21c | | 3 | F/4 | 48,XX,+X,+21c | | 4 | M/7 | 47,XY,+X/47,idem,add(11)(p15) | | 5 | M/2 | 48,XY,+X,+21c | | 6 | F/4 | 48,XX,+X,+21c | | 7 | M | 46,XY,+X,inv(9)c at relapse | | 8 | F/3 | 48,XX,+X,+21c | | 9 | M | 47,XY,+X | | 10 | F/3 | 48,XX,+X,+21c | | 11 | F/16 | 47,XX,+X/47,idem,i(17)(q10)/47,idem,dup(1)(q21q32) | | 12 | F/16 | 47,XX,+X | | 13 | M/21 | 48,XY,del(1)(p22),t(1;19)(q23p13),+mar/47,XY,+X | | 14 | F/6 | 47,XX,+X | | 15 | F/53 | 47,XX,+X at relapse | | 16 | M | 48,XY,+X,+21c PAR1 deletion, P2RY8-CRLF2 by RT-PCR | | 17 | M | 48,XY,+X,+21c | | 18 | F | 48,XX,+X,+21c | | 19 | F | 48,XX,+X,+21c/48,idem,i(17)(q10) | | 20 | M | 48,XY,+X,+21c | | 21 | M | 48,XY,+X,+21c | | 22 | M | 47,XY,+X | | 23 | M/4 | 48,XY,+X,+21c/49,idem,+17 | | 24 | F/5 | 48,XX,+X,+21c | | 25 | F/3 | 47,XX,+X | | 26 | F/8 | 47,XX,+X | | 27 | F/38 | 47,XX,+X | | 28 | M/22 | 47,XY,+X episomal amplification of NUP214-ABL1 | | 29 | M/13 | 48,XY,+X,+21c | | 30 | M/1 | 48,XY,+X,+21c | | 31 | F/2B | 47,XX,+X | | 32 | M/41 | 47,XY,+X | | 33 | F/4 | 47,XX,+X | | 34 | M/20 | 47,XY,+X |
Abbreviations: M, male; F, female
1. Fuscaldo et al., 1981; 2. Kalwinsky et al., 1990; 3. Dastugue et al., 1992; 4. Privitera et al., 1992; 5-6 Pui et al., 1993; 7. Chucrallah et al., 1995; 8. Kempski et al., 1997; 9. Heerema et al., 1998; 10. Heinonen et al., 1999; 11. Silva et al., 2002; 12. Chan et al., 2003; 13. Foa et al., 2003; 14. Kristensen et al., 2003; 15. Yamamoto et al., 2004; 16-22. Mullighan et al., 2009; 23-26. Russell et al., 2009; 27. Chapiro et al., 2010; 28. Eyre et al., 2012; 29-30. Lundin et al., 2014; 31. Olsson et al., 2015; 32. Safavi et al., 2015; 33. Liu et al., 2016; 34. Yasuda et al ., 2016. |
| Prognosis | +X as the sole anomaly may have not affect the prognosis in ALL patients and likely should be considered an indicator of low risk factor (Dastugue et al., 1992). |
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