| Disease |
Myeloid malignancies mainly. |
| Phenotype / cell stem origin |
6 patients were diagnosed with chronic myeloproliferative disorders (MPD): polycythemia vera (PV) 5 cases (Rege-Cambrin et al., 1991; Najfeld et al., 2002; Jacob et al., 2003; Sambani et al., 2005) and myelofibrosis (MF) 1 patient (Sambani et al., 2005). 1 patient was diagnosed with plasma cell leukemia (Heller et al., 2004) and 1 with (Mohamed et al., 2001) (Table 1). ).
Table 1. Reported patients with der(9)t(1;9)(q12;q12).
Ref | Sex/Age | Disease | Karyotype | 1. | F/53 | Polycythemia vera | 47,XX,del(5)(q14q32),+der(9)t(1;9)(q12;q12) | 2. | F/63 | Follicular lymphoma | 3. | M | Polycythemia vera | 46,XY,der(9)t(1;9)(q12;q12),+9 | 4. | F/60 | Polycythemia vera | 48,XX,+8,+der(9)t(1;9)(q12;q12) | 5. | M | Plasma cell leukemia | 51,XY,-1,-1,+3,+der(5)t(5;11)(q13-14;q24)t(1;11)(q12;q25),+7 or der(7)t(1;7)(p31;p15),+8, +der(9)t(1;9)(q12;q12),der(11)t(1;11)(p31;p15)t(1;11)(q12;q25),-13,der(14)t(X;14)(q21;p13),+15,+18,der(19)t(9;19)(q12;q11),+i(19)(q10) | 6. | M/73 | Polycythemia vera | 47,XY,+der(9)t(1;9)(q12;q12),del(11)(q22)/47,idem,der(17)t(13;17)(q13;q25) | 7. | F/53 | Idiopathic myelofibrosis | 47,XX,+der(9)t(1;9)(q12;q12) | 8. | M/70 | Polycythemia vera | 47,XY,+der(9)t(1;9)(q12;q12) |
Abbreviations: M., male; F., female; LN., lymph node. 1. Rege-Cambrin et al., 1991; 2. Mohamed et al., 2001; 3. Najfeld et al., 2002; 4. Jacob et al., 2003; 5. Heller et al., 2004; 6-8. Sambani et al., 2005. |
| Epidemiology | Sporadic cases; found in 4 male and 4 female patients (sex ratio 1:1) aged 53 to 73 years. |
| Prognosis | Unknown, rare occurrence. |
| Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation |
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| PMID 12734672 |
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| PMID 11343778 |
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| Najfeld V, Montella L, Scalise A, Fruchtman S |
| Br J Haematol 2002 Nov;119(2):558-66 |
| PMID 12406101 |
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| Rege-Cambrin G, Speleman F, Kerim S, Scaravaglio P, Carozzi F, Dal Cin P, Michaux JL, Offner F, Saglio G, Van den Berghe H |
| Leukemia 1991 Dec;5(12):1059-63 |
| PMID 1774954 |
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| Sambani C, La Starza R, Pierini V, Vandenberghe P, Gonzales-Aguilera JJ, Rigana H, Koumbi D, Manola KN, Stavropoulou C, Georgakakos VN, Pagoni M, Wlodarska I, Mecucci C |
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