| Disease |
Chronic myeloproliferative disorders, myelodysplastic syndromes, and acute myeloid leukemias (AML) |
| Epidemiology | 14 cases (10 males and 4 females, aged 5 to 67 years) were diagnosed with various chronic myeloproliferative disorders: 6 myelodysplastic syndrome (MDS) (Ref. in Table 1.), 6 chronic myeloid leukemia (CML), 1 essential thrombocythemia (ET) and 1 idiopathic myelofibrosis (IF) (Table 1).
There were 40 AML patients, with prevalence of acute megakaryoblastic leukemia (AML-M7) cases, diagnosed in 14 (Ref. in Table 2.), among them 8 diagnosed in patients with Down's syndrome (DS). The remaining AML cases were: 5 acute undifferentiated leukemia (AML-M0), 2 acute myeloblastic leukemia without maturation (FAB type M1), 4 acute myeloblastic leukemia with maturation (FAB type M2), 2 acute promyelocytic leukemia (FAB type M3), 2 acute myelomonocytic leukemia (FAB type M4), 3 acute monoblastic leukemia (FAB type M5), 2 acute erythroleukemia (FAB type M6) and 6 AML cases (Table 2).
35 male and 19 female patients aged 0 to 86 years (median 12 years); 25 patients were children aged 0 to 12 years ( median 1 years), among them 14 Down's syndrome patients aged 0 to 12 years (median 1 year); adult cases were 19 to 86 years old (median 55 years).
Table 1. i(7)(q10) in chronic myeloproliferative disorders and myelodysplastic syndromes
| | Sex/Age | Disease | Karyotype | | 1 | F/67 | RARS | 46,XX,i(7)(q10) | | 2 | F/50 | RARS | 46,XX,i(7)(q10)/46,idem,i(17)(q10) | | 3 | M | CML | 46,XY,i(7)(q10),t(9;22)(q34;q11) | | 4 | M/5 | RAEB | 48,XY,add(5)(p15),i(7)(q10),del(13)(q12q14),der(14)t(14;17)(p11;q11),+21,+mar/88-93,XXYY,+der(1)t(1;19)(p13;q11),del(2)(p22),add(4)(p16),i(7)(q10)x2,+8,del(13)x2,der(14) ,der(17)t(11;17)(q13;p13)x2 | | 5 | M/6 | MDS | 46,XY,i(7)(q10) | | 6 | M/5 | MDS | 46,XY,i(7)(q10)/46,XY,del(20)(q11) Shwachman-Diamond syndrome | | 7 | M/55 | CML | 46,XY,i(7)(q10),t(9;22)(q34;q11) | | 8 | M | CML | 46,XX,i(7)(q10),t(9;22)(q34;q11) | | 9 | M/48 | CML | 46,XY,i(7)(q10),t(9;22)(q34;q11) | | 10 | M/67 | ET | 48,XY,+8,+21/46,XY,i(7)(q10) | | 11 | M/49 | CML | 92,XXYY,i(7)(q10)x2,t(9;22)(q34;q11)x2 | | 12 | F/42 | MDS | 46,XX,i(7)(q10)/46,idem,del(11)(q14) Fanconi anemia | | 13 | F/53 | IF | 48,XX,del(5)(q13q31),i(7)(q10),+8,add(11)(p15) PDGFRB | | 14 | M/10 | CML | 46,XY,t(9;14)(q33;q32),t(9;22)(q34;q11)/46,idem,i(7)(q10) |
1. Labal de Vinuesa et al., 1987; 2. Larripa et al., 1987; 3. Werner et al., 1991; 4. Tien et al., 1994; 5. Dror et al., 1998; 6. Dror et al., 1998; 7. Nakayama et al., 1999; 8. Marktel et al., 2003; 9. Tanaka et al., 2004; 10. Ohyashiki et al., 2008; 11. Fabarius et al., 2011; 12. Quentin et al., 2011; 13. Arefi et al., 2012; 14. Nadal et al., 2012
Abbreviations: M, male; F, female; RARS, refractory anemia with ringed sideroblasts; CML, chronic myeloid leukemia; RAEB, refractory anemia with excess of blasts; MDS, myelodysplastic syndrome; ET, essential thrombocythemia; IF, idiopathic myelofibrosis.
Table 2. i(7)(q10) in acute myeloid leukemias
| | Sex/ Age | Disease | Karyotype | | 1 | F/12 | AML-M2 | 46,XX,i(7)(q10) | | 2 | M/19 | AML-M4 | 46,XY,i(7)(q10) | | 3 | M/0 | AML-M2 | 47,XY,i(7)(q10),+21c | | 4 | F/40 | AML-M2 | 46,XX,i(7)(q10) / 46,XX,del(1)(q?),i(7)(q10) | | 5 | M/2 | AML-M5 | 47,XY,i(7)(q10),der(14)t(1;14)(q23;q32),+21 | | 6 | F/12 | AML-M1 | 45,XX,-4,i(7)(q10),-11,add(13)(q?),del(20)(q?),+21c | | 7 | M | AML-M7 | 46,XY,inv(3)(q21q26),i(7)(q10) | | 8 | M/31 | AML-M1 | 47,XY,+X,i(7)(q10),t(11;19)(q23;p13) | | 9 | M/1 | AML-M7 | 47,XY,der(4)t(1;4)(q32;q34),i(7)(q10),+21c/47,idem,der(7)i(7)(q10)del(7)(q11q21) | | 10 | F/7 | AML | 46,XX,t(11;18)(q23;p11)/46,idem,i(7)(q10) | | 11 | M/72 | AML-M7 | 46,XY,inv(3),i(7)(q10) | | 12 | F/2 | AML-M7 | 47,XX,i(7)(q10),+der(11)t(11;14)(p13;q11),-14,+21/47,idem,dup(1)(q21q24) | | 13 | M/1 | AML-M7 | 47,XY,der(5)t(1;5)(q31;p14),+21c/47,idem,i(7)(q10) | | 14 | M/3 | AML-M5 | 47,XY,i(7)(q10),+21c | | 15 | F/0 | AML-M5 | 46,XX,i(7)(q10) | | 16 | F/61 | AML-M2 | 46,XX,inv(4)(p?q?),i(7)(q10) | | 17 | F/86 | AML | 82-83,XX,-X,der(X)t(X;8)(q11;q11),del(1)(p11),der(1)t(1;9)(q32;q12),add(3)(q11),del(3)(p14),der(3)t(3;5)(q21;q13),der(4;17)(q10;q10),-5, del(5)(q15q22)x2,add(7)(q32),i(7)(q10),-8,-8,del(8)(q22),-9,del(10)(q24) x2,del(11)(p13)x2,add(12)(p11),-13,?dup(13)(q33q14),-14,-15,-15,-16,add(19)(p13),+2r,+2mar/82-83,idem,del(12)(q?) | | 18 | M | AML | 69,XY,-X,+1,+i(2)(q10),add(3)(q?),-5,del(5)(q?),-7,i(7)(q10),-8,del(11)(q14q23),-12,-13,-15,-16,-17,+19 | | 19 | F/69 | AML | 46,XX,del(5)(q13q31)/46,idem,i(7)(p10),i(7)(q10)/46,idem,del(12)(p11) | | 20 | M | AML | 48,XY,i(7)(q10),+8,dup(8)(p11p23)x2,+21 | | 21 | M/43 | APL | 46,XY,i(7)(q10),t(11;17)(q23;q21) | | 22 | M/76 | AML-M7 | 47,XY,+1,add(3)(q21),i(7)(q10),+der(12)t(12;21)(p11;q?)x2,-21 | | 23 | M/11 | AML-M1 | 46,XY,t(10;17)(p15;q21)/46,idem,i(7)(q10) | | 24 | F/1 | AML-M7 | 47,XX,der(4)t(1;4)(q23;p15),inv(9)(p11q13)c,+21c/47,XX,i(7)(q10),inv(9)c,+21c | | 25 | F/1 | AML-M7 | 47,XX,+2,i(7)(q10) | | 26 | M/71 | AML-M6 | 51-54,X,del(X),+1,del(5),+del(5),+6,i(7)(q10),+8,t(11;19),t(12;15)(p13;q22),t(13;14)c,+14,+15, r(19),+20,+20,+21 | | 27 | M/49 | AML-M0 | 46,XY,i(7)(q10) | | 28 | F/45 | APL | 48-49,XX,+X,+del(5)(q13q33)x2,i(7)(q10),ins(17;15)(q12;q22q22)x2,der(22)t(1;22)(q22;q10) | | 29 | M/1 | AML-M7 | 47,XY,i(7)(q10),+21c | | 30 | F/67 | AML-M4 | 88-92,XXXX,-7,i(7)(q10)x2,-9,del(9)(q31),+1-3mar,inc | | 31 | M/0 | AML-M7 | 47,XY,i(7)(q10),+21c | | 32 | M/1 | AML-M0 | 47,XY,i(7)(q10),+21c / 47,XY,+1,der(1;8)(q10;q10),i(7)(q10),add(11)(q25),del(16)(q12),add(18)(p11),+21c/94,idemx2 | | 33 | M/1 | AML-M7 | 47,XY,der(3)t(3;3)(p25;p10),i(7)(q10),der(17)t(1;17)(q25;q25),+21c | | 34 | M/5 | AML-M0 | 48,XY,der(1)add(1)(p32)dup(1)(q21q26),del(3)(q21q26),i(7)(q10),del(16)(q22q24),+21,+21c | | 35 | M | AML-M7 | 47,XY,add(5)(p15),i(7)(q10),add(11)(p11),+21 | | 36 | M/56 | AML-M1 | 46,XY,add(1)(p36),i(7)(q10) | | 37 | M/1 | AML-M6 | 47,XY,i(7)(q10),+21c | | 38 | F/1 | AML-M7 | 46,XX,i(7)(q10),der(9)t(1;9)(q25;q34),-16,add(19)(q13),+21c | | 39 | F/71 | AML | 46,XX,t(3;8)(q26;q24)/46,idem,del(7)(p11p15)/45,idem,i(7)(q10) | | 40 | M/1 | AML-M7 | 47,XY,?del(11)(q23q23),+21/47,idem,i(7)(q10) |
1-2. Labal de Vinuesa et al., 1987; 3. Pui et al., 1987; 4. Iurlo et al., 1989; 5. Hayashi et al., 1990; 6. Bunin et al., 1991; 7. Levy et al., 1994; 8. Finke et al., 1994; 9. Martinez-Climent et al., 1995; 10. Roulston et al., 1995; 11. Secker-Walker et al., 1995; 12.Shikano et al., 1995; 13-14. Creutzig et al., 1996; 15.Cimino et al., 1997; 16. El-Rifai et al., 1997; 17. Andreasson et al., 1998; 18. Archimbaud et al., 1998; 19. Streubel et al., 1998; 20. Raimondi et al., 1999; 21. Grimwade et al., 2000; 22. Alvarez et al.,2001; 23. Shah et al., 2001; 24. Strehl et al., 2001; 25. Yamada et al., 2001; 26. Cigudosa et al 2003; 27. Roumier et al., 2003; 28. Tchinda et al., 2004; 29. Chang et al., 2005; 30. Bene et al., 2006; 31. Massey et al., 2006; 32. Wong et al., 2006; 33. Hama et al., 2008; 34. Hasle et al.,2008; 35. Radtke et al., 2009; 36. Duhoux et al., 2011; 37. Lundin et al., 2012; 38. Yoshida et al., 2013; 39. Xu et al., 2014; 40. Ono et al., 2015.
Abbreviations: M, male; F, female; AML-M2., acute myeloblastic leukemia with maturation; AML-M4, acute myelomonocytic leukemia; AML-M5; acute monoblastic leukemia; AML-M1, acute myeloblastic leukemia without maturation; AML-M7; acute megakaryoblastic leukemia; AML, acute myeloid leukemia; APL, acute promyelocytic leukemia; AML-M0; acute myeloblastic leukemia with minimal differentiation; AML-M6, acute erythroleukemia. |
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