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

Abstract

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

Keywords

chromosome 1; chromosome 8; MYC; Multiple myeloma

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo	C420,C421,C424
ICD-Morpho	9732/3 Plasma cell myeloma / Multiple myeloma
ICD-Morpho	9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho	9673/3 Mantle cell lymphoma
Atlas_Id	1792

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/Age Disease Karyotype</td> 1 M/76 AML 43,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 2 F Mantle cell lymphoma LN 42-45,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) 3 M/70 MM 45,X,-Y/44,XY,+1,der(1;16)(q10;p10),+der(1;21)(q10;p10),t(1;8)(p21;q24),-13, -14 4 M MM 54,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 5 M MM 43,X,-Y,del(1)(p21),t(1;8)(p21;q24),add(4)(p16),add(8)(p10),-13,-22 6 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 7 F/61 MM 49,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

	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

Fusion Protein

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

Two novel human B-cell lymphoma lines of lymphatic follicle origin: cytogenetic, molecular genetic and histopathological characterisation

Knuutila S, Klefström J, Szymanska J, Lakkala T, Peltomäki P, Eray M, Teerenhovi L, Elonen E, Franssila KO, Kaartinen M

Eur J Haematol 1994 Feb;52(2):65-72

PMID 8119385

Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes

Mohamed AN, Bentley G, Bonnett ML, Zonder J, Al-Katib A

Am J Hematol 2007 Dec;82(12):1080-7

PMID 17654686

Der(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, Sidaner I, Favre B, Manone L, Maynadié M, Caillot D, Solary E

Leukemia 1995 Feb;9(2):277-81

PMID 7869764

Chromosomes and causation of human cancer and leukemia

Oshimura M, Hayata I, Kakati S, Sandberg AA

XVII Banding studies in acute myeloblastic leukemia (AML)

PMID 1067891

Hypodiploidy is a major prognostic factor in multiple myeloma

Smadja NV, Bastard C, Brigaudeau C, Leroux D, Fruchart C; Groupe Français de Cytogénétique Hématologique

Blood 2001 Oct 1;98(7):2229-38

PMID 11568011

Citation

This paper should be referenced as such :

Zamecnikova A

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

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Anomalies/t0108p21q24ID1792.html

Translocations implicated (Data extracted from papers in the Atlas)

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

External links

Mitelman database	t(1;8)(p21-22;q24) [Case List]    t(1;8)(p21-22;q24) [Transloc-MCList]
arrayMap (UZH-SIB Zurich)	Morph ( 9732/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9673/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]

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