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 |
Campbell PJ, Baxter EJ, Beer PA, Scott LM, Bench AJ, Huntly BJ, Erber WN, Kusec R, Larsen TS, Giraudier S, Le Bousse-Kerdilès MC, Griesshammer M, Reilly JT, Cheung BY, Harrison CN, Green AR |
Blood 2006 Nov 15;108(10):3548-55 |
PMID 16873677 |
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Characterization of a highly aberrant plasma cell leukemia karyotype: a case report |
Heller A, Fricke HJ, Starke H, Loncarevic IF, Claussen U, Liehr T |
Oncol Rep 2004 Jan;11(1):89-92 |
PMID 14654908 |
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Paraneoplastic eosinophilic fasciitis: a case report |
Jacob SE, Lodha R, Cohen JJ, Romanelli P, Kirsner RS |
Rheumatol Int 2003 Sep;23(5):262-4 |
PMID 12734672 |
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Chromosomal analyses of 52 cases of follicular lymphoma with t(14;18), including blastic/blastoid variant |
Mohamed AN, Palutke M, Eisenberg L, Al-Katib A |
Cancer Genet Cytogenet 2001 Apr 1;126(1):45-51 |
PMID 11343778 |
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Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected |
Najfeld V, Montella L, Scalise A, Fruchtman S |
Br J Haematol 2002 Nov;119(2):558-66 |
PMID 12406101 |
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Extra translocation +der(1q9p) is a prognostic indicator in myeloproliferative disorders |
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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Leukemic recombinations involving heterochromatin in myeloproliferative disorders with t(1;9) |
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 |
Cancer Genet Cytogenet 2005 Oct 1;162(1):45-9 |
PMID 16157199 |
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