i(3)(q10) in non-Hodgkin's lymphoma (NHL)

Abstract

Partial or complete chromosome 3 gains resulting from the presence of trisomy 3, unbalanced translocation or isochromosome formation has been observed in different types of non-Hodgkin's lymphomas (NHL). Among them, the isochromosome of the long arm of chromosome 3 is a relatively rare chromosome aberration, associated mainly with B-cell NHL. However, its occurrence is not restricted to lymphomas, as the detection of +i(3)(q10) is considered a specific marker of polyclonal B-cell lymphocytosis with binucleated lymphocytes (PPBL) associated with an increase frequency of chromosome 3 instability as well as it may also be found in myeloid malignancies.

Keywords

chromosome 3; B-cell lymphomas; T-cell lymphomas

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo	C420,C421,C424
ICD-Morpho	9690/3 Follicular lymphoma; Paediatric follicular lymphoma
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	9673/3 Mantle cell lymphoma
ICD-Morpho	9823/3 Chronic lymphocytic leukaemia /small lymphocytic lymphoma
ICD-Morpho	9689/3
ICD-Morpho	9699/3 Extranodal marginal zone lymphoma of mucosa- associated lymphoid tissue (MALT lymphoma); Nodal marginal zone lymphoma; Paediatric nodal marginal zone lymphoma
ICD-Morpho	9761/3 Waldenstrom macroglobulinemia
ICD-Morpho	9705/3 Angioimmunoblastic T-cell lymphoma
ICD-Morpho	9702/3 Peripheral T-cell lymphoma, NOS; Anaplastic large cell lymphoma, ALK negative
Atlas_Id	2115

Clinics and Pathology

Disease	B-cell non-Hodgkin's lymphoma and less frequently T-cell lymphomas.
Note
Phenotype / cell stem origin	Patients had various forms of lymphomas: Mature B-cell lymphomas in 20: 4 follicular lymphoma (FL) (Yunis et al .,1987; Ueda et al., 1997; Horsman et al., 2001; Bosga-Bouwer et al., 2003), 4 diffuse large B-cell lymphoma (DLBCL) (Poppe et al., 2005; Yoshioka et al., 2005; Chapiro et al., 2008; Arayan et al., 2013), 3 mantle cell lymphoma ID: 2062> (MCL) (Martinez-Climent et al., 2001; Au et al., 2002; Nagel et al .,2010), 3 chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) (Specchia et al., 2002; Wong et al., 2002; Struski et al., 2007), 1 splenic marginal zone B-cell lymphoma (Gazzo et al., 2007), 1 nodal marginal zone B-cell lymphoma (Chapiro et al., 2008), 1 Waldenström macroglobulinemia (Wong et al., 1995) and 3 mature B-cell neoplasms (Sandberg et al., 1984; Bloomfield et al., 1983; Hashimoto et al., 1995). Mature T-cell lymphomas in 3: 2 angioimmunoblastic T-cell lymphoma (Lepretre et al., 2000; Temple et al., 2004) and 1 peripheral T-cell lymphoma, unspecified (Nelson et al., 2008).
Epidemiology	23 patients (male prevalence; 15 males, 8 females aged 52 to 83 years; median 64 years).
Prognosis	Gain of 3q in complex karyotypes reflects genomic instability and patients may show a more aggressive course of the disease and poor response to chemotherapy.

Cytogenetics

Note	FISH using a probe specific for 3q such as the probe for BCL6 is recommended for the confirmation of 3q trisomy in complex karyotypes. Moreover, as the method is more sensitive than conventional cytogenetics, it allows for the study of non-dividing cells in lymphomas.
Cytogenetics Morphological	Presents as 1 normal chromosome 3 and a i(3)(q10) chromosome replacing a normal chromosome 3, leading to trisomy 3q and monosomy 3p in 13 patients and presents as 2 normal chromosomes 3 and an extra +i(3)(q10) resulting in disomy 3p and 3q tetrasomy in 10.
Additional anomalies	Found as a part of simple karyotypes associated with +18 in 2 CLL and in a Waldenstrom macroglobulinemia patient and part of complex or highly complex rearrangements in the remaining patients. Characteristic chromosomal abnormalities associated with particular subtypes such as 14q rearrangements were found in 9 patients with B-cell NHL, among them the t(14;19)(q32;q13) was detected in 2, t(3;14)(q27;q32) in 2, t(14;18)(q32;q21) in 1, t(9;14)(p13;q32) in 1 and t(11;14)(q13;q32) in 3 patients with mantle cell lymphoma.

Result of the chromosomal anomaly

Fusion Protein

Oncogenesis

Isochromosome i(3)(q10) represents a rare but recurrent abnormality in NHL, particularly in B-cell lineage lymphomas. The formation of i(3)(q10) results in a duplication of its long arm, leading to genomic imbalances in a copy number-dependent manner. Commonly overrepresented segments in complete or partial trisomies of 3q include the q21-23 region and the q25-29 region, however the gene(s) involved in pathogenesis are not known. Candidate genes on 3q may include BCL6 located on 3q27.3, MECOM on 3q26.2, SIAH2 on 3q25.1, PIK3CA on 3q26.32, PAK2 on 3q29 and the ATR gene located on 3q23. Deregulation of these genes could contribute to a possible proliferative advantage of the cells. i(3)(q10) is frequently part of a complex karyotype, therefore may be considered a secondary event. The appearance of i(3)(q10) might be related to chromosomal and genomic instability (Troussard et al., 2008) that may play a role in the emergence of a clonal and/or malignant subpopulation in NHL as a part of a multi-step process.

Bibliography

Cytogenetic analysis in mantle cell lymphoma: a review of 214 cases.

Au WY, Gascoyne RD, Viswanatha DS, Connors JM, Klasa RJ, Horsman DE.

Leuk Lymphoma 2002 Apr;43(4):783-91.

PMID 12153165

Nonrandom chromosome abnormalities in lymphoma.

Bloomfield CD, Arthur DC, Frizzera G, Levine EG, Peterson BA, Gajl-Peczalska KJ.

Cancer Res 1983 Jun;43(6):2975-84.

PMID 6850608

Follicular lymphoma grade 3B includes 3 cytogenetically defined subgroups with primary t(14;18), 3q27, or other translocations: t(14;18) and 3q27 are mutually exclusive.

Bosga-Bouwer AG, van Imhoff GW, Boonstra R, van der Veen A, Haralambieva E, van den Berg A, de Jong B, Krause V, Palmer MC, Coupland R, Kluin PM, van den Berg E, Poppema S.

Blood 2003 Feb 1;101(3):1149-54.

PMID 12529293

The most frequent t(14;19)(q32;q13)-positive B-cell malignancy corresponds to an aggressive subgroup of atypical chronic lymphocytic leukemia.

Chapiro E, Radford-Weiss I, Bastard C, Luquet I, Lefebvre C, Callet-Bauchu E, Leroux D, Talmant P, Mozziconacci MJ, Mugneret F, Struski S, Raynaud S, Andrieux J, Barin C, Jotterand M, Mossafa H, Ramond S, Terré C, Lippert E, Berger F, Felman P, Merle-Béral H, Bernard OA, Davi F, Berger R, Nguyen-Khac F.

Leukemia 2008 Nov;22(11):2123-7.

PMID 18449207

Detailed characterization of 7q deletions by multicolor banding (mBAND) in marginal zone cell lymphoma.

Gazzo S, Chudoba I, Traverse-Glehen A, Baseggio L, Felman P, Berger F, Salles G, Hayette S, Magaud JP, Callet-Bauchu E.

Cancer Genet Cytogenet 2007 Jun;175(2):159-65.

PMID 17556073

Correlations of chromosome abnormalities with histologic and immunologic characteristics in 49 patients from Akita, Japan with non-Hodgkin lymphoma.

Hashimoto K, Miura I, Chyubachi A, Saito M, Miura AB.

Cancer Genet Cytogenet 1995 May;81(1):56-65.

PMID 7773961

Analysis of secondary chromosomal alterations in 165 cases of follicular lymphoma with t(14;18).

Horsman DE, Connors JM, Pantzar T, Gascoyne RD.

Genes Chromosomes Cancer 2001 Apr;30(4):375-82.

PMID 11241790

Chromosome abnormalities in peripheral T-cell lymphoma.

Lepretre S, Buchonnet G, Stamatoullas A, Lenain P, Duval C, d'Anjou J, Callat M-P, Tilly H, Bastard C.

Cancer Genet Cytogenet 2000 Feb;117(1):71-9.

PMID 10700871

Loss of a novel tumor suppressor gene locus at chromosome 8p is associated with leukemic mantle cell lymphoma.

Martinez-Climent JA, Vizcarra E, Sanchez D, Blesa D, Marugan I, Benet I, Sole F, Rubio-Moscardo F, Terol MJ, Climent J, Sarsotti E, Tormo M, Andreu E, Salido M, Ruiz MA, Prosper F, Siebert R, Dyer MJ, Garcèa-Conde J.

Blood 2001 Dec 1;98(12):3479-82.

PMID 11719392

Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignancies.

Nagel I, Szczepanowski M, Martèn-Subero JI, Harder L, Akasaka T, Ammerpohl O, Callet-Bauchu E, Gascoyne RD, Gesk S, Horsman D, Klapper W, Majid A, Martinez-Climent JA, Stilgenbauer S, Tönnies H, Dyer MJ, Siebert R.

Blood 2010 Aug 26;116(8):1317-20.

PMID 20460502

PCDH10 promoter hypermethylation is frequent in most histologic subtypes of mature lymphoid malignancies and occurs early in lymphomagenesis.

Narayan G, Xie D, Freddy AJ, Ishdorj G, Do C, Satwani P, Liyanage H, Clark L, Kisselev S, Nandula SV, Scotto L, Alobeid B, Savage D, Tycko B, O'Connor OA, Bhagat G, Murty VV.

Genes Chromosomes Cancer 2013 Nov;52(11):1030-41.

PMID 23929756

Cytogenetic abnormalities and clinical correlations in peripheral T-cell lymphoma.

Nelson M, Horsman DE, Weisenburger DD, Gascoyne RD, Dave BJ, Loberiza FR, Ludkovski O, Savage KJ, Armitage JO, Sanger WG.

Br J Haematol. 2008 May;141(4):461-9.

PMID 18341637

PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements.

Poppe B, De Paepe P, Michaux L, Dastugue N, Bastard C, Herens C, Moreau E, Cavazzini F, Yigit N, Van Limbergen H, De Paepe A, Praet M, De Wolf-Peeters C, Wlodarska I, Speleman F.

Genes Chromosomes Cancer 2005 Oct;44(2):218-23.

PMID 15942942

Chromosome analysis in hematologic disorders. The leukemias.

Sandberg AA, Morgan R, Berger C, Hecht BK, Hecht F.

Am J Med 1984 Jun;76(6):971-82.

PMID 6587777

Concomitant tetrasomy 3q and trisomy 18 in CD5(-), CD13(+) chronic lymphocytic leukemia.

Specchia G, Albano F, Anelli L, Storlazzi CT, Monaco M, Capalbo S, Rocchi M, Liso V.

Cancer Genet Cytogenet 2002 Mar;133(2):160-3.

PMID 11943345

A cytological, immunophenotypical and cytogenetical study of 136 consecutive cases of B-cell chronic lymphoid hemopathies.

Struski S, Leymarie V, Helias C, Falkenrodt A, Fohrer C, Audhuy B, Lioure B, Moskovtchenko P, Mazurier I, Galoisy AC, Gervais C, Mauvieux L, Herbrecht R, Bergerat JP, Lessard M.

Pathol Biol (Paris). 2007 Feb;55(1):59-72.

PMID 16690228

Application of combined immunofluorescence and fluorescence in situ hybridization on paraffin-embedded sections to characterize T-cell lymphoma with EBV-infected B-cell blasts.

Temple GK, Sales M, Kernohan N, Scott F, Meiklejohn D, Pratt N.

Genes Chromosomes Cancer 2004 Dec;41(4):405-9.

PMID 15390188

Polyclonal B-cell lymphocytosis with binucleated lymphocytes (PPBL).

Troussard X, Cornet E, Lesesve JF, Kourel C, Mossafa H.

Onco Targets Ther 2008 Oct 1;1:59-66.

PMID 21127753

Interphase detection of BCL6/IgH fusion gene in non-Hodgkin lymphoma by fluorescence in situ hybridization.

Ueda Y, Nishida K, Miki T, Horiike S, Kaneko H, Yokota S, Misawa S, Abe T, Kashima K, Taniwaki M.

Cancer Genet Cytogenet 1997 Dec;99(2):102-7.

PMID 9398863

Concomitant partial tetrasomy 3q and trisomy 18 in Waldenström macroglobulinemia.

Wong KF, Kwong YL, Wong TK.

Cancer Genet Cytogenet 1995 May;81(1):92-3.

PMID 7773966

Gain of chromosome 3/3q in B-cell chronic lymphoproliferative disorder is associated with plasmacytoid differentiation with or without IgM overproduction.

Wong KF, So CC, Chan JCW, Kho BCS, Chan JKC.

Cancer Genet Cytogenet 2002 Jul 1;136(1):82-5.

PMID 12165458

Multiple recurrent genomic defects in follicular lymphoma. A possible model for cancer.

Yunis JJ, Frizzera G, Oken MM, McKenna J, Theologides A, Arnesen M.

N Engl J Med 1987 Jan 8;316(2):79-84.

PMID 3537802

Citation

This paper should be referenced as such :

Zamecnikova A

i(3)(q10) in non-Hodgkin's lymphoma (NHL);

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Anomalies/i3q10ID2115.html

External links

arrayMap (UZH-SIB Zurich)	Morph ( 9690/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9680/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9673/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9823/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9689/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9699/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9761/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9705/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9702/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed
All articles	automatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Nov 28 16:17:05 CET 2018

For comments and suggestions or contributions, please contact us