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t(1;8)(p11-13;q24)

Written2017-04Adriana Zamecnikova
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; annaadria@yahoo.com

Abstract Review on t(1;8)(p11-13;q24), with data on clinics, and the genes involved.

Keywords chromosome 1; chromosome 8; MYC; Multiple myeloma

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Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9732/3 Plasma cell myeloma / Multiple myeloma
Atlas_Id 1454

Clinics and Pathology

Disease Multiple myeloma (MM) mainly
Epidemiology Multiple myeloma in 14 cases, found mainly in male patients (12 males and 1 female, 1 unknown) (Sawyer et al., 1998; Marzin et al., 2006; Wu et al., 2007; Gabrea et al., 2008; Sawyer et al., 2014.). Sporadic cases with lymphoid malignancies: CLL in a 64-years old male (Juliusson et al 1985) and T-cell acute lymphocytic leukemia (ALL) in a 1 year old boy (Raimondi et al 1993) (Table 1).
 Sex/AgeDiseaseKaryotype
1M/64CLL46,XY,add(9)(q34),del(11)(q22),+12,-13,-21,-22,+2mar/45,XY,+12,-21,-22/46,XY,t(1;8)(p12;q24)
2M/1T-ALL46,XY,t(1;8)(p13;q24),t(11;17)(q23;q25)
3MMM45-49,XY,t(1;8)(p11;q24),der(3)t(3;8)(p25;q?24),der(6)t(3;6)(q?21;q27),+der(7)t(7;?14)(q11;q11) t(1;14)(q11;q32),der(10)t(1;10)(q11;p15),-13,t(14;14)(q11;q32),+15,+18,+21 10-11.
4MMM47,XY,-1,t(1;8)(p11;q24),t(2;3)(q31;q27),der(3)del(3)(p21)?dup(3)(q21q25),add(4)(p12),del(5) (q22q31),?del(6)(q21q22),inv(7)(p13q32),+der(11)t(11;15)(p15;q15),der(12)t(4;12)(p12;q24), del(13)(q12q14),der(16)t(1;16)(q21;q22),+der(19)t(1;19)(p13;q13),der(21)t(21;21)(q22;?)
5?MM59,X?,t(1;8)(p1?;q24),der(2)t(2;11)(q3;?),-4,-8,-10,-12,del(12)(p?),-13,-14, +15,-16,der(16)t(9;16) (q11;q11),-18,+19,-20
6MMM41-46,X,-Y,del(1)(p12p21),+i(1)(q10),t(1;8)(p12;q24),add(6)(q12),add(7)(p12),del(7)(p12),-8,add(12) (p13),del(12)(p11),-13,-14,+1-5mar
7FMM39-41,-X,der(X)t(X;18)(q28;q11)ins(X;?)(q28;?),t(1;8)(p11-13;q24),add(2)(p25),dup(3)(q21q29), add(4)(q?31),t(4;14)(p16;q32),add(7)(p22),-8,der(9;17) (p10;q10),der(10)t(8;10)(q11;p13),-13,-14, add(15)(p11),der(15)t(9;15)(q12;p11),der(18)t(X;18),add(19)(q13),+20,der(21)t(1;21)(q23;p11)ins(21;?) (p11;?),+mar
8MMM53,X,-Y,+1,t(1;8)(p13;q24)x2,+3,+6,+7,+8,+9,+11,t(12;22)(q13;q12),-13,+15,i(17)(q10),del(20) (q11q12),+21 19-20.
9MMM55-56,Y,der(X)t(X;1)(q28;q12),t(1;8)(p13;q24),+der(1)t(1;8),+der(3)t(1;3)(q12;q29),+8,+9, +11, der(14)t(6;14)(p21;q32),+15,+17,+18+19,+20
10MMM50,X,-X,+1,der(1;16)(q10;p10),+der(1;19)(q10;p10),t(1;8)(p11;q24),+4,+9,-13,?add(14)(q32), +15,+21, +21
11MMM84,XXYY,i(1)(q10)x2,t(1;8)(p13;q24)x2,-2,-4,-4,-8,-9,i(9)(q10),t(9;12)(p22;q24)x2,-13,-13,-14,-14, add(14)(q32),-16,del(16)(q22)x2,+2mar  
12MMM53-56,X,-Y,t(1;8)(p13;q24),+i(5)(p10),+der(7)t(1;7)(q12;p21)add(1)(q?25),+9,+11,+15, +del(17) (p12),+18,+19,+20,+21,+mar/53-56,idem,-der(7),+del(7)(p12), del(12)(q13),+del(17)(q?22q?24), der(19)t(3;?;19)(p11;?;p13),der(19)t(12;?;19)(q11;?;p13)
13MMM43-47,XY,+1,der(1;8)(q10;q10),t(1;8)(p11;q24),?del(2)(q?33),der(3)t(3;?8)(q?25;q?13),del(4)(q?32), -10,del(13)(q12q22),-16,add(16)(p13),del(17)(p12),der(19)t(1;19)(q12;p13)/44-45,idem,der(1)del(1) (p11p22)t(1;15)(q21;q22),+3,-der(3),del(6)(q21),der(15)t(1;15)(q21;q22),-der(19),+ider(19)t(1;19) (q12;p13)
14MMM42,X,-Y,i(1)(q10),t(1;8)(p13;q24),add(2)(p?25),del(3)(p13p22),-4,t(5;14)(q11;q32),del(6)(q25), del(8)(p12),-10,-14,?del(18)(p11)
15MMM81,XX,-Y,-Y,+1,+1,+del(1)(p13p32)x2,t(1;8)(p13;q24)x2,der(1;16)(q10;p10)x2,der(1;22)(q10;q10) x2,-2,-4,-10,-10,add(10)(q26),-13,-13,-14,-14,-17,?del(19)(q13)x2,add(20)(p13)x2/74-75,idem, der(1;15)(q10;q10)x2,-der(1;16),-der(1;22)x2,-3,-4,-5,-9,-12,-add(20),+22,+22
16MMM61-65,XY,-X,t(1;8)(p13;q24),del(1)(p13),+del(1),der(4)t(1;4)(q12;q35),der(6)t(1;6)(q;q21),-10, add(12)(p13),-13,-14,-22

Abbreviations:M, male; F, female; CLL, chronic lymphocytic leukemia; ALL, acute lymphoblastic leukemia/lymphoblastic lymphoma; MM, multiple myeloma. >
1. Juliusson et al., 1985; 2. Raimondi et al., 1993; 3-4. Sawyer et al., 1998; 5. Marzin et al., 2006; 6. Wu et al., 2007; 7-8. Gabrea et al., 2008; 9-16. Sawyer et al., 2014CLINICS

Cytogenetics

Cytogenetics Morphological The most common breakpoints described on 1p were 1p13 (8 patients) and 1p11 (4 cases).
Additional anomalies Found in a sideline in the CLL case (Juliusson et al., 1985) and in association with t(11;17)(q23;q25) in a T-ALL (Raimondi et al., 1993); highly complex karyotypes in MM showing mainly either pseudodiploid, hypodiploid or near-triploid/tertraploid karyotypes; associated with 14q32 rearrangements in 6 (Sawyer et al., 1998; Gabrea et al., 2008; Sawyer et al., 2014) and del(13q)/-13 was found in 10 MM patients (Sawyer et al., 1998; Marzin et al., 2006; Wu et al., 2007; Gabrea et al., 2008; Sawyer et al., 2014).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis The chromosomal translocation t(1;8)(p11-p13;q24) is found mainly in multiple myeloma, indicating that it may play an important role in myeloma pathogenesis or progression of disease. While the translocation involve the MYC loci at 8q24, its rearrangement and/or overexpression was studied only in a few reported patients (Gabrea et al., 2008). Translocations involving MYC have been shown to be important in B-cell maturation or myeloma pathogenesis resulting in its increased expression and an aggressive disease phenotype. MYC translocations in MM are often complex with non-identified partner regions affecting non-IG partners (Walker et al., 2014). Therefore it is likely, that 1p11-13 is an additional partner loci not involving an IG gene causing dysregulation of MYC affecting proliferation, growth and apoptosis.
  

Bibliography

Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and nonhyperdiploid myeloma tumors
Gabrea A, Martelli ML, Qi Y, Roschke A, Barlogie B, Shaughnessy JD Jr, Sawyer JR, Kuehl WM
Genes Chromosomes Cancer 2008 Jul;47(7):573-90
PMID 18381641
 
Prognostic information from cytogenetic analysis in chronic B-lymphocytic leukemia and leukemic immunocytoma
Juliusson G, Robèrt KH, Ost A, Friberg K, Biberfeld P, Nilsson B, Zech L, Gahrton G
Blood 1985 Jan;65(1):134-41
PMID 3871161
 
Chromosome 1 abnormalities in multiple myeloma
Marzin Y, Jamet D, Douet-Guilbert N, Morel F, Le Bris MJ, Morice P, Abgrall JF, Berthou C, De Braekeleer M
Anticancer Res 2006 Mar-Apr;26(2A):953-9
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Cytogenetically different leukemic clones at relapse of childhood acute lymphoblastic leukemia
Raimondi SC, Pui CH, Head DR, Rivera GK, Behm FG
Blood 1993 Jul 15;82(2):576-80
PMID 8329712
 
Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping
Sawyer JR, Lukacs JL, Munshi N, Desikan KR, Singhal S, Mehta J, Siegel D, Shaughnessy J, Barlogie B
Blood 1998 Dec 1;92(11):4269-78
PMID 9834233
 
Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease
Sawyer JR, Tian E, Heuck CJ, Epstein J, Johann DJ, Swanson CM, Lukacs JL, Johnson M, Binz R, Boast A, Sammartino G, Usmani S, Zangari M, Waheed S, van Rhee F, Barlogie B
Blood 2014 Apr 17;123(16):2504-12
PMID 24497533
 
Translocations at 8q24 juxtapose MYC with genes that harbor superenhancers resulting in overexpression and poor prognosis in myeloma patients
Walker BA, Wardell CP, Brioli A, Boyle E, Kaiser MF, Begum DB, Dahir NB, Johnson DC, Ross FM, Davies FE, Morgan GJ
Blood Cancer J 2014 Mar 14;4:e191
PMID 24632883
 
Abnormalities of chromosome 1p/q are highly associated with chromosome 13/13q deletions and are an adverse prognostic factor for the outcome of high-dose chemotherapy in patients with multiple myeloma
Wu KL, Beverloo B, Lokhorst HM, Segeren CM, van der Holt B, Steijaert MM, Westveer PH, Poddighe PJ, Verhoef GE, Sonneveld P; Dutch-Belgian Haemato-Oncology Cooperative Study Group (HOVON); Dutch Working Party on Cancer Genetics and Cytogenetics (NWCGC)
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Citation

This paper should be referenced as such :
Zamecnikova A
t(1;8)(p11-13;q24);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0108p11q24ID1454.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(1;8)(p11-13;q24)

External links

Mitelman databaset(1;8)(p11-13;q24) [Case List]    t(1;8)(p11-13;q24) [Association List] Mitelman database (CGAP - NCBI)
arrayMapMorph ( 9732/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(1;8)(p11-13;q24)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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