der(9)t(1;9)(q12;q12)

Abstract

Abstract: Review on der(9)t(1;9)(q12;q12), with data on clinics.

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Identity

ICD-Topo	C420,C421,C424
ICD-Morpho	9950/3 Polycythaemia vera
ICD-Morpho	9961/3 Primary myelofibrosis
ICD-Morpho	9733/3
ICD-Morpho	9690/3 Follicular lymphoma; Paediatric follicular lymphoma
Atlas_Id	1649

Clinics and Pathology

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.

Cytogenetics

Cytogenetics Morphological	Presents as 2 normal chromosomes 1 and 9 and an extra der(9)t(1;9) chromosome in 7 out of 8 cases.
Additional anomalies	Sole abnormality in 2 MPD patients (Sambani et al., 2005), associated with limited additional anomalies in the remaining MPD patients (each case 1): +8 (Jacob et al., 2003), +9 (Najfeld et al., 2002), del(5)(q14q32) (Rege-Cambrin et al., 1991) and del(11)(q22) (Sambani et al., 2005); complex karyotypes in plasma cell leukemia and lymphoma patients.

Result of the chromosomal anomaly

Fusion Protein

Oncogenesis

The unbalanced der(9)t(1;9)(q12;q12) is a rare but recurrent chromosome translocation, found mainly in chronic myeloproliferative neoplasms. The breakpoints in chromosomes 1 and 9 are within the constitutive heterochromatin bands that are notoriously unstable chromosomal regions and permit formation of complex and unstable chromosomal translocations. Mostly, these rerrangements are unbalanced and accompanied by genomic imbalances, casually implicated in disease initiation or progression. The presence of an extra der(9)t(1;9)(q12;q12) results in trisomy of both 1q and 9p arms, therefore altered dosages of genes are likely to be involved in neoplastic processes. der(9)t(1;9)(q12;q12) is apparently secondary as mostly coexists with well-known primary abnormalities such as trisomy 8 or 9 or 5q deletion. The presence of either trisomy 9 or +9p suggests that gene-dosage effect of JAK2, located at 9p24.1 may contribute to MPD phenotype. In addition, the observation that MPD patients with 9/+9p trisomy are invariably JAK2V617F-positive (Campell et al., 2006) imply a role for JAK2 cooperating mutation in myeloproliferative disorders.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section.

Bibliography

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

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

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

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

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

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

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

Citation

This paper should be referenced as such :

Zamecnikova A, al Bahar S

der(9)t(1;9)(q12;q12);

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Anomalies/der9t0109q12q12ID1649.html

Translocations implicated (Data extracted from papers in the Atlas)

	t(1;9)(q12;q12)

External links

Mitelman database	t(1;9)(q12;q12) [Case List]    t(1;9)(q12;q12) [Transloc-MCList]
arrayMap (UZH-SIB Zurich)	Morph ( 9950/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9961/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9733/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9690/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]

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