i(7)(q10) in myeloid malignancies

2017-08-01   Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; annaadria@yahoo.com

Abstract

Isochromosome of the long arm of chromosome 7 is a known chromosomal abnormality in hematological malignancies that may be found in patients with Shwachman-Diamond syndrome, hepatosplenic T-cell lymphoma and acute lymphoblastic leukemia. In myeloid malignancies, i(7)(q10) may be found in acute myeloid leukemias and chronic myeloproliferative disorders, either as a solely anomaly or more frequently as a secondary anomaly associated with other additional anomalies.

Clinics and Pathology

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 Downs 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 Downs 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/AgeDiseaseKaryotype
1F/67RARS46,XX,i(7)(q10)
2F/50RARS46,XX,i(7)(q10)/46,idem,i(17)(q10)
3MCML46,XY,i(7)(q10),t(9;22)(q34;q11)
4M/5RAEB48,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
5M/6MDS46,XY,i(7)(q10)
6M/5MDS46,XY,i(7)(q10)/46,XY,del(20)(q11)      Shwachman-Diamond syndrome
7M/55CML46,XY,i(7)(q10),t(9;22)(q34;q11)
8MCML46,XX,i(7)(q10),t(9;22)(q34;q11)
9M/48CML46,XY,i(7)(q10),t(9;22)(q34;q11)
10M/67ET48,XY,+8,+21/46,XY,i(7)(q10)
11M/49CML92,XXYY,i(7)(q10)x2,t(9;22)(q34;q11)x2
12F/42MDS46,XX,i(7)(q10)/46,idem,del(11)(q14)      Fanconi anemia
13F/53IF48,XX,del(5)(q13q31),i(7)(q10),+8,add(11)(p15)      PDGFRB
14M/10CML46,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/ AgeDiseaseKaryotype
1F/12AML-M246,XX,i(7)(q10)
2M/19AML-M446,XY,i(7)(q10)
3M/0AML-M247,XY,i(7)(q10),+21c
4F/40AML-M246,XX,i(7)(q10) / 46,XX,del(1)(q?),i(7)(q10)
5M/2AML-M547,XY,i(7)(q10),der(14)t(1;14)(q23;q32),+21
6F/12AML-M145,XX,-4,i(7)(q10),-11,add(13)(q?),del(20)(q?),+21c
7MAML-M746,XY,inv(3)(q21q26),i(7)(q10)
8M/31AML-M147,XY,+X,i(7)(q10),t(11;19)(q23;p13)
9M/1AML-M747,XY,der(4)t(1;4)(q32;q34),i(7)(q10),+21c/47,idem,der(7)i(7)(q10)del(7)(q11q21)
10F/7AML46,XX,t(11;18)(q23;p11)/46,idem,i(7)(q10)
11M/72AML-M746,XY,inv(3),i(7)(q10)
12F/2AML-M747,XX,i(7)(q10),+der(11)t(11;14)(p13;q11),-14,+21/47,idem,dup(1)(q21q24)
13M/1AML-M747,XY,der(5)t(1;5)(q31;p14),+21c/47,idem,i(7)(q10)
14M/3AML-M547,XY,i(7)(q10),+21c
15F/0AML-M5 46,XX,i(7)(q10)
16F/61AML-M246,XX,inv(4)(p?q?),i(7)(q10)
17F/86AML82-83,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?)
18MAML69,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
19F/69AML46,XX,del(5)(q13q31)/46,idem,i(7)(p10),i(7)(q10)/46,idem,del(12)(p11)
20MAML48,XY,i(7)(q10),+8,dup(8)(p11p23)x2,+21
21M/43APL46,XY,i(7)(q10),t(11;17)(q23;q21)
22M/76AML-M747,XY,+1,add(3)(q21),i(7)(q10),+der(12)t(12;21)(p11;q?)x2,-21
23M/11AML-M146,XY,t(10;17)(p15;q21)/46,idem,i(7)(q10)
24F/1AML-M747,XX,der(4)t(1;4)(q23;p15),inv(9)(p11q13)c,+21c/47,XX,i(7)(q10),inv(9)c,+21c
25F/1AML-M747,XX,+2,i(7)(q10)
26M/71AML-M651-54,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
27M/49AML-M046,XY,i(7)(q10)
28F/45APL48-49,XX,+X,+del(5)(q13q33)x2,i(7)(q10),ins(17;15)(q12;q22q22)x2,der(22)t(1;22)(q22;q10)
29M/1AML-M747,XY,i(7)(q10),+21c
30F/67AML-M488-92,XXXX,-7,i(7)(q10)x2,-9,del(9)(q31),+1-3mar,inc
31M/0AML-M747,XY,i(7)(q10),+21c
32M/1AML-M047,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
33M/1AML-M747,XY,der(3)t(3;3)(p25;p10),i(7)(q10),der(17)t(1;17)(q25;q25),+21c
34M/5AML-M048,XY,der(1)add(1)(p32)dup(1)(q21q26),del(3)(q21q26),i(7)(q10),del(16)(q22q24),+21,+21c
35MAML-M747,XY,add(5)(p15),i(7)(q10),add(11)(p11),+21
36M/56AML-M146,XY,add(1)(p36),i(7)(q10)
37M/1AML-M647,XY,i(7)(q10),+21c
38F/1AML-M746,XX,i(7)(q10),der(9)t(1;9)(q25;q34),-16,add(19)(q13),+21c
39F/71AML46,XX,t(3;8)(q26;q24)/46,idem,del(7)(p11p15)/45,idem,i(7)(q10)
40M/1AML-M747,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.

Prognosis

May depend on chronic versus acute disease and the presence of other karyotypic anomalies; likely unfavorable in association with disease progression and/or complex karyotypes.

Result of the Chromosomal Anomaly

Oncogenesis

Isochromosome of the long arm of chromosome 7 is a nonrandom chromosome anomaly in myeloid malignancies including acute myeloid leukemias, chronic myeloid leukemia, myelodysplastic syndromes and myeloproliferative neoplasms. Usually observed as an additional anomaly or is part of complex karyotypes, indicating involvement of genes from chromosome 7 in disease progression. i(7)(q10) results in a loss of the short arm (7p) and duplication of the long arm (7q) leading to a single copy of 7p and three copies of 7q resulting in genomic unbalances. The gain of genes on 7q as a result of isochromosome formation may play a significant role in the pathogenesis while loss of tumor suppressor gene or genes from 7p might be a required cooperating event.

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Summary

Atlas Image
Figure 1. Partial karyotypes showing i(7)(q10) (A). Fluorescence in situ hybridization with Vysis LSI D7S486 (7q31) SpectrumOrange/ Vysis CEP 7 SpectrumGreen probe (Downers Grove, IL) hybridizing to bands 7q11 and 7q31, demonstrated 3 copies of the long arm of chromosome 7 (red signal) (B). Hybridization with Vysis whole chromosome 7 probe showing the normal and the i(7)(q10) chromosome (green) (C).

Citation

Adriana Zamecnikova

i(7)(q10) in myeloid malignancies

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1244/i(7)(q10)-in-myeloid-malignancies