t(1;8)(p21-22;q24)

2017-05-01   Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; annaadria@yahoo.com

Abstract

Review on t(1;8)(p21-22;q24), with data on clinics, and the genes involved.

Clinics and Pathology

Disease

Multiple myeloma (MM) mainly

Epidemiology

5 cases presented with multiple myeloma (3 males and 2 females aged 43 to 73 years) (Mugneret et al., 1995; Smadja et al., 2001; Kaufmann et al., 2003; Mohamed et al., 2007) and there was one 76-years old male with acute myeloid leukemia (AML) (Oshimura et al., 1976) and 1 female with mantle cell lymphoma (Knuutila et al., 1994) ) (Table 1).
 Sex/AgeDiseaseKaryotype
1M/76AML43,X,-Y,-1,t(1;8)(p22;q24),-11,der(11)t(11;13)(q23-25;q12-14),-13,-16,-17,add(17) (p11),+22,der(22)t(1;22)(q11;p11-12)x2,+mar
2FMantle cell lymphoma LN42-45,X,add(X)(q22),der(1)t(1;6)(p32;q15),t(2;3)(q37;q21),del(5)(q13q22),del(6)(q15), +7,del(10)(q24),-13,t(14;18)(q32;q21),-15,-17,der(22)t(13;22)(q12-14;q11-13),+4 -5mar,inc/46,X,add(X),der(1),t(1;8)(p21;q24),t(3;19) (q28;p13),del(5),del(6),+7,del(10), -13,t(14;18),-15,+der(19)t(3;19),der(22)
3M/70MM45,X,-Y/44,XY,+1,der(1;16)(q10;p10),+der(1;21)(q10;p10),t(1;8)(p21;q24),-13, -14
4MMM54,X,-Y,del(1)(p21p22),+der(1)t(1;8)(p13;q12),t(1;8)(?p22;q24),+3,t(4;16) (q13;p10), +5,+add(5)(p15),+7,-8,der(8;16)(q11;q11),+9,+11,+15,+19,+21
5MMM43,X,-Y,del(1)(p21),t(1;8)(p21;q24),add(4)(p16),add(8)(p10),-13,-22
6F/43MM48-49,X,-X,der(1;9)(q10;p10),t(1;8)(p21;q24),+3,add(5)(q35),-16,+18,+19,+21
7F/61MM49,X,-X,t(1;8)(p22;q24),+5,del(14)(q22),+15,+15,add(22)(q11),+mar

Abbreviations: M, male; F, female; AML, acute myeloid leukemia; LN, lymph node; MM, multiple myeloma.
1. Oshimura et al., 1976; 2. Knuutila et al., 1994; 3. Mugneret et al., 1995; 4. Smadja et al., 2001; 5. Kaufmann et al., 2003; 6-7. Mohamed et al., 2007.

Cytogenetics

Atlas Image
Partial karyotypes showing t(1;8)(p22;q24). (A) Fluorescence in situ hybridization with Vysis LSI MYC SpectrumOrange Probe probe (Abott Molecular, US) showing the MYC signal (red) on der(8) chromosome. (B) Simultaneous hybridization with Vysis LSI MYC SpectrumOrange Probe and LSI 1p36 (SpectrumOrange)/1q25 (SpectrumGreen) probes (Abott Molecular, US) showing translocation of 1p sequences distal to MYC on der(8) chromosome.

Additional anomalies

Additional anomalies Complex karyotypes showing either hypodiploid or hyperdiploid karyotypes; associated with t(14;18)(q32;q21) and -13 in the mantle cell lymphoma case (Knuutila et al., 1994) and monosomy 13 in AML (Oshimura et al., 1976) and in 2 MM patients (Mugneret et al., 1995; Kaufmann et al., 2003).

Result of the Chromosomal Anomaly

Oncogenesis

The chromosomal translocation t(1;8)(p21-22;q24) is a rare anomaly, that has been described mainly in multiple myeloma patients. It involves the MYC loci at 8q24, however MYC rearrangement and/or its overexpression was studied only in sporadic cases (Mugneret et al., 1995). It is also possible, that breakpoints may be located in the vicinity of MYC locus, at least in some patients with dispersed 1p21-22 breakpoints, therefore the molecular consequences of this rearrangement are likely be heterogeneous and probably disease specific. In all the described cases, the t(1;8)(p21-22;q24) was part of complex karyotypes, indicating that it developed concurrently with other genetic alterations and likely to be a late progression event important in disease progression.

Bibliography

Pubmed IDLast YearTitleAuthors
81193851994Two novel human B-cell lymphoma lines of lymphatic follicle origin: cytogenetic, molecular genetic and histopathological characterisation.Knuutila S et al
176546862007Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes.Mohamed AN et al
78697641995Der(16)t(1;16)(q10;p10) in multiple myeloma: a new non-random abnormality that is frequently associated with Burkitt's-type translocations.Mugneret F et al
10678911976Chromosomes and causation of human cancer and leukemia. XVII. Banding studies in acute myeloblastic leukemia (AML).Oshimura M et al
115680112001Hypodiploidy is a major prognostic factor in multiple myeloma.Smadja NV et al

Citation

Adriana Zamecnikova

t(1;8)(p21-22;q24)

Atlas Genet Cytogenet Oncol Haematol. 2017-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1792/t(1;8)(p21-22;q24)

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