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der(1;9)(q10;p10)

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

Abstract Review on der(1;9)(q10;p10), with data on clinics.

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9950/3 Polycythaemia vera
ICD-Morpho 9961/3 Primary myelofibrosis
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9680/3 Diffuse large B-cell lymphoma (DLBCL), NOS; Primary DLBCL of the CNS; Primary cutaneous DLBCL, leg type; EBV positive DLBCL of the elderly; DLBCL associated with chronic inflammation; B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma
ICD-Morpho 9732/3 Plasma cell myeloma / Multiple myeloma
Atlas_Id 1647

Clinics and Pathology

Disease Myeloid malignancies, rarely acute lymphocytic leukemia (ALL), multiple myeloma (MM) and lymphoma.
Phenotype / cell stem origin 10 patients were diagnosed with myeloid malignacies: polycythemia vera (PV) 7 cases (den Nijs van Weert et al., 1989; Swolin et al., 1986; Rege-Cambrin et al., 1991; Boiocchi et al., 2013), myelofibrosis (MF) 2 (Rege-Cambrin et al., 1991; Reilly et al., 1997) and acute myeloid leukemia 1 patient (Bobadilla et al., 2007). There were 4 multiple myeloma MM (Mohamed et al., 2007; Gabrea et al., 2008; Sawyer et al., 2014), 1 ALL (Uckun et al., 1998) and 1 diffuse large B-cell lymphoma (Martin-Subero et al., 2007) cases (Table 1).
Table 1. Reported patients with der(1;9)(q10;p10).

Ref.

Sex/Age

Disease

Karyotype

 

 

 

Myeloid disorders

1.

F/53

PV

47,XX,+der(1;9)(q10;p10)

2.

F/47

Post PV
AML-M4

47,XX,+9
47,XX,+der(1;9)(q10;p10)
46,XX,t(4;12)(q11;p13),-7,+8

3.

F/30

Post PV
AML-M6

48,XX,+der(1;9)(q10;p10),+8/48,XX,t(1;9)(p10;q10),+8,+9/48,XX,+8,+9

4.

M/59

Post PV MF

47,XY,+9/47,XY,+der(1;9)(q10;p10) 

5.

F/61

Post PV
AML-M6

45,XX,-5/46,idem,+mar
46,XX,-5,del(20)(q11),+mar/46,idem,+der(1;9)(q10;p10),+7 
45-46,XX,-5,-7,del(20),+1-2mar

6.

M/60

Post MF AML

47,XY,+der(1;9)(q10;p10)br />47,XY,+der(1;9),del(13)(q13q31)
48,XY,+der(1;9),+8,del(13)

7.

F/62

Post PV AML

48,XX,+der(1;9)(q10;p10),+8,del(13)(q11q14)/51,XX,+der(1;9)x2,+8,+14,+19

8.

M/59

MF

47,XY,t(1;9)(p10;q10),+der(1;9)(q10;p10)

9.

M/37

AML-M0

46,XY,t(3;12)(q26;p13)/46,idem,der(1;9)(q10;p10)

10.

M

Post PV MF

47,XY,+der(1;9)(q10;p10)/47,XY,+9

 

 

 

Other malignancies

11.

F

ALL

46,XX,+1,der(1;9)(q10;p10),i(7)(q10),der(19)t(1;19)(q23;p13)/48,XX,+5,i(7)(q10),+8,der(19)t(1;19)(q23;p13) 

12.

M/45

DLBCL  LN

48,XY,+der(1)t(1;19;22)(q23;q13;q11),der(1;9)(q10;p10),+3,der(12)t(12;19;22)(p12;q13;q11),der(15)t(15;16)
(q26;q12),der(16)add(16)(p13)t(15;16)(q26;q12),der(19)del(19)(p13)t(1;19)(q23;q13),der(22)t(12;22)(p12;q11)

13.

F/43

MM

48-49,X,-X,der(1;9)(q10;p10),t(1;8)(p21;q24),+3,add(5)(q35),-16,+18,+19,+21 

14.

F

MM

46,XX,del(5)(q13)/56-57,XX,+der(1;6)(q10;p10),+der(1;9)(q10;p10),+3,+del(5)(q33),del(6)(q25),+7,+8,+i(8)
(q10)x3,+add(9)(p21)x2,add(12)(p12),-13,+add(15)(q26)x2,+21,+del(22)(q13) 

15.

F

MM

50-54,X,-X,+der(1;9)(q10;p10),der(1)t(1;?3)(p36;q21),i(1)(q10),+3,-4,add(5) (p11),+del(5)(q31q33),+del(7)
(q36),t(7;?22)(q36;q13),der(8;?19)(q10;q10),+9, del(13)(q13q14),+15,add(16)(q24),+19,+21,+22,+mar 

16.

F

MM

45-49,X,add(?X)(p11),del(1)(p11p31),der(1)del(1)(p11p31)dup(1)(q12q25),+der(1;9)(q10;p10),+9,del(10)(q26),
del(10)(q11),-13,+19,+mar/93-101,idemx2,-add(X),der(14)t(1;14)(q?21;p11),inc 


Abbreviations: PV., polycythemia vera; AML-M4., acute myelomonocytic leukemia; MF., myelofibrosis., AML-M0., acute myeloblastic leukemia with minimal differentiation; AML-M6., acute erythroleukemia; ALL., acute lymphoblastic leukemia; DLBCL., diffuse large B-cell lymphoma; LN., lymph node; MM., multiple myeloma.
1-2. den Nijs van Weert et al., 1989; 3-5. Swolin et al., 1986; 6-7. Rege-Cambrin et al., 1991; 8. Reilly et al., 1997; 9. Bobadilla et al., 2007; 10. Boiocchi et al 2013; 11. Uckun et al., 1998; 12. Martin-Subero et al., 2007; 13. Mohamed et al., 2007; 14-15. Gabrea et al., 2008; 16. Sawyer et al., 2014.

Epidemiology Rare anomaly, found in 6 male and 10 female patients aged 30 to 62 years.
Prognosis Found in association with leukaemic or myelofibrotic transformation in 7 out of 10 myeloid cases; may represent a poor prognostic indicator with a high propensity to transformation in myeloproliferative disorders.

Cytogenetics

Cytogenetics Morphological Presents as 2 normal chromosomes 1, one normal chromosome 9 and a der(9)t(1;9) chromosome in 4 patients and as +der(1;9)(q10;p10) in 12 cases.
Additional anomalies Found as the sole abnormality in 1 patient (den Nijs van Weert et al., 1989) and most frequently in combination with numerical anomalies in myeloid cases: loss of chromosomes 5 (Swolin et al., 1986) and/or 7 (Swolin et al., 1986; den Nijs van Weert et al., 1989) in 2 and with extra chromosome 8 in 4 patients (Swolin et al 1986; den Nijs van Weert et al., 1989; Rege-Cambrin et al., 1991). Numerical gain of chromosome 9 , detected in 4 patients (Swolin et al 1986; den Nijs van Weert et al., 1989; Boiocchi et al 2013) is of special interest since it was found only in independent clones that appeared simultaneously or in sequence including the case presenting with trisomy 9 as a sole anomaly who developed an extra der(1;9) during the course of the disease with disapperance of the extra chromosome 9 (den Nijs van Weert et al., 1989). A t(1;9)(p10;q10) in addition to der(1;9)(q10;p10) chromosome was observed in two patients (Swolin et al., 1986; Reilly et al., 1997). Deletions of the long arms of either chromosome 13 (Rege-Cambrin et al., 1991) or20 (Swolin et al., 1986) appeared in 3 patients and 2 reported patients showed 12p rearrangements (den Nijs van Weert et al., 1989; Bobadilla et al., 2007).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Acquired whole-arm chromosome translocations (WAT) of the long arm of chromosome 1 are nonrandom in hematologic malignancies and commonly involve centromeric or paracentromeric sites of chromosome partners. Mostly, these rearrangements are unbalanced leading to genomic imbalances, such as 1q trisomy and monosomy of the whole-arm of the involved chromosome. The unbalanced der(1;9)(q10;p10) is created by translocation between the whole arms of chromosomes 1 and 9 by fusion in their centromeric regions probably as a result of heterochromatin breakage and reunion in centromeric sequences (Sambani et al., 2005). Structural homologies of large blocks of constitutive heterochromatin in chromosome 1 and 9 centromeric regions might favor such recombination.
der(1;9)(q10;p10) is a relatively rare cytogenetic aberration that presumably occur in myeloproliferative neoplasms (den Nijs van Weert et al., 1989; Rege-Cambrin et al., 1991). In the majority of these cases, it was found as +der(1;9)(q10;p10), therefore leading to trisomy of both 1q and 9p arms. The formation of an extra copies of the entire chromosome arms are likely to be implicated in a neoplastic processes by a gene dosage effect, analogous to numerical aberrations.
The occurrence of +9 in patients with myeloproliferative disorders is of special interest with respect to the JAK2 gene on 9p24.1, suggesting that JAK2 copy number may play a pathogenetic role. This is supported by observation of a series of MPNs patients with t(1;9) describing that patients with either trisomy 9/+9p are invariably JAK2V617F-positive. The majority of these cases also possessed amplification of the gene in addition to the mutation, thus JAK2 activating mutations may cooperate with 9/9p trisomy. It can be hypothesized that the gain-of-function of JAK2 contributes to the disease phenotype while its enhanced constitutive activation provides a proliferative advantage (Reilly et al., 2008; Campbell et al., 2006). While the timing of the JAK2 mutation is unclear, the occurrence of common trisomies and non-random chromosome deletions in these patients suggests that it may not be the initiating event, but chromosome aneuploidy and gene deletions may precede the acquisition of JAK2 mutations. These data suggest that multiple genetic events may be associated with the development of der(1;9)(q10;p10) that frequently coexists at presentation or later during the further course of the disease. The der(1;9)(q10;p10) is usually present with additional common abnormalities, therefore it is likely to be a secondary event, representing clonal evolution that may play a role in disease progression.
  

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

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Morphologic and cytogenetic differences between post-polycythemic myelofibrosis and primary myelofibrosis in fibrotic stage
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Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation
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Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and nonhyperdiploid myeloma tumors
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Citation

This paper should be referenced as such :
Zamecnikova A, al Bahar S
der(1;9)(q10;p10);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/der0109q10p10ID1647.html


Translocations implicated (Data extracted from papers in the Atlas)

 der(1;9)(q10;p10)

External links

Mitelman databaseder(1;9)(q10;p10) [Case List]    der(1;9)(q10;p10) [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 ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9680/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9732/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseder(1;9)(q10;p10)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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