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

Written2016-01Adriana Zamecnikova, Soad al Bahar
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; annaadria@yahoo.com

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 databaset(1;9)(q12;q12) [Case List]    t(1;9)(q12;q12) [Association List] Mitelman database (CGAP - NCBI)
arrayMapMorph ( 9950/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9961/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9733/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9690/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseder(9)t(1;9)(q12;q12)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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