Mutations of the 5′ noncoding region of the BCL-6 gene in primary bone lymphomas

Umberto Gianelli, Maurilio Ponzoni, Alessia Moro, Rosa Maria Alfano, Caterina Pellegrini, Roberto Giardini, Carlo Patriarca, Elisabetta Armiraglio, Silvano Bosari, Antonina Parafioriti, Guido Coggi

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Somatic point mutations of the 5′ noncoding region of the BCL-6 gene have been described as genetic alterations in non-Hodgkin lymphomas (NHL). They are more frequent in diffuse large B cell (DLBCL) and follicular lymphomas (FL). This study aims to analyse the presence and distribution of BCL-6 gene mutations in a large series of primary bone lymphomas (PBL), a rare extranodal presentation of NHL frequently associated with diffuse large cell morphology. Fifty-three cases of PBL were examined. Mutations were detected with non-radioisotopic polymerase chain reaction-single strand conformation polymorphism and visualized with fluorescent cycle sequencing. Among stage IE PBL, there were 30 cases of DLBCL and one each of follicular, anaplastic large cell and peripheral T-cell lymphoma. The stage IIE PBL included six DLBCL and one lymphoplasmacytic lymphoma, whereas within stage IV PBL there were 12 DLBCL and one Burkitt lymphoma. Fifteen patients (28%) displayed mutational events. In nine cases there were more than one BCL-6 mutation. Only DLBCL displayed mutations (31%). Mutations included single base-pair substitutions (16 transitions and ten transversions) and a single point insertion (ins A 427-28). The frequency of mutations resulted lower in DLBCL of the PBL category than in the majority of other extranodal large cell lymphomas. The prevalence of mutations was higher in stage IE PBL than in more advanced stages of the disease (IIE + IV) (p=0.02). Our results reinforce the observation of heterogeneity of the DLBCL included in the clinical category of PBL.

Original languageEnglish
Pages (from-to)691-695
Number of pages5
JournalAnnals of Hematology
Volume82
Issue number11
DOIs
Publication statusPublished - Nov 2003

Fingerprint

Lymphoma
Bone and Bones
Mutation
B-Lymphocytes
Genes
Non-Hodgkin's Lymphoma
Peripheral T-Cell Lymphoma
Follicular Lymphoma
Burkitt Lymphoma
Lymphoma, Large B-Cell, Diffuse
Mutation Rate
Point Mutation
Base Pairing
Observation
Polymerase Chain Reaction

Keywords

  • BCL-6 gene
  • Extranodal non-Hodgkin lymphoma
  • Lymphoma of the bone
  • Mutation of the 5′ noncoding region
  • Primary bone lymphoma

ASJC Scopus subject areas

  • Hematology

Cite this

Mutations of the 5′ noncoding region of the BCL-6 gene in primary bone lymphomas. / Gianelli, Umberto; Ponzoni, Maurilio; Moro, Alessia; Alfano, Rosa Maria; Pellegrini, Caterina; Giardini, Roberto; Patriarca, Carlo; Armiraglio, Elisabetta; Bosari, Silvano; Parafioriti, Antonina; Coggi, Guido.

In: Annals of Hematology, Vol. 82, No. 11, 11.2003, p. 691-695.

Research output: Contribution to journalArticle

Gianelli, U, Ponzoni, M, Moro, A, Alfano, RM, Pellegrini, C, Giardini, R, Patriarca, C, Armiraglio, E, Bosari, S, Parafioriti, A & Coggi, G 2003, 'Mutations of the 5′ noncoding region of the BCL-6 gene in primary bone lymphomas', Annals of Hematology, vol. 82, no. 11, pp. 691-695. https://doi.org/10.1007/s00277-003-0721-2
Gianelli, Umberto ; Ponzoni, Maurilio ; Moro, Alessia ; Alfano, Rosa Maria ; Pellegrini, Caterina ; Giardini, Roberto ; Patriarca, Carlo ; Armiraglio, Elisabetta ; Bosari, Silvano ; Parafioriti, Antonina ; Coggi, Guido. / Mutations of the 5′ noncoding region of the BCL-6 gene in primary bone lymphomas. In: Annals of Hematology. 2003 ; Vol. 82, No. 11. pp. 691-695.
@article{ff6aad1c80764fa6a15ad14dff44e26c,
title = "Mutations of the 5′ noncoding region of the BCL-6 gene in primary bone lymphomas",
abstract = "Somatic point mutations of the 5′ noncoding region of the BCL-6 gene have been described as genetic alterations in non-Hodgkin lymphomas (NHL). They are more frequent in diffuse large B cell (DLBCL) and follicular lymphomas (FL). This study aims to analyse the presence and distribution of BCL-6 gene mutations in a large series of primary bone lymphomas (PBL), a rare extranodal presentation of NHL frequently associated with diffuse large cell morphology. Fifty-three cases of PBL were examined. Mutations were detected with non-radioisotopic polymerase chain reaction-single strand conformation polymorphism and visualized with fluorescent cycle sequencing. Among stage IE PBL, there were 30 cases of DLBCL and one each of follicular, anaplastic large cell and peripheral T-cell lymphoma. The stage IIE PBL included six DLBCL and one lymphoplasmacytic lymphoma, whereas within stage IV PBL there were 12 DLBCL and one Burkitt lymphoma. Fifteen patients (28{\%}) displayed mutational events. In nine cases there were more than one BCL-6 mutation. Only DLBCL displayed mutations (31{\%}). Mutations included single base-pair substitutions (16 transitions and ten transversions) and a single point insertion (ins A 427-28). The frequency of mutations resulted lower in DLBCL of the PBL category than in the majority of other extranodal large cell lymphomas. The prevalence of mutations was higher in stage IE PBL than in more advanced stages of the disease (IIE + IV) (p=0.02). Our results reinforce the observation of heterogeneity of the DLBCL included in the clinical category of PBL.",
keywords = "BCL-6 gene, Extranodal non-Hodgkin lymphoma, Lymphoma of the bone, Mutation of the 5′ noncoding region, Primary bone lymphoma",
author = "Umberto Gianelli and Maurilio Ponzoni and Alessia Moro and Alfano, {Rosa Maria} and Caterina Pellegrini and Roberto Giardini and Carlo Patriarca and Elisabetta Armiraglio and Silvano Bosari and Antonina Parafioriti and Guido Coggi",
year = "2003",
month = "11",
doi = "10.1007/s00277-003-0721-2",
language = "English",
volume = "82",
pages = "691--695",
journal = "Annals of Hematology",
issn = "0939-5555",
publisher = "Springer Verlag",
number = "11",

}

TY - JOUR

T1 - Mutations of the 5′ noncoding region of the BCL-6 gene in primary bone lymphomas

AU - Gianelli, Umberto

AU - Ponzoni, Maurilio

AU - Moro, Alessia

AU - Alfano, Rosa Maria

AU - Pellegrini, Caterina

AU - Giardini, Roberto

AU - Patriarca, Carlo

AU - Armiraglio, Elisabetta

AU - Bosari, Silvano

AU - Parafioriti, Antonina

AU - Coggi, Guido

PY - 2003/11

Y1 - 2003/11

N2 - Somatic point mutations of the 5′ noncoding region of the BCL-6 gene have been described as genetic alterations in non-Hodgkin lymphomas (NHL). They are more frequent in diffuse large B cell (DLBCL) and follicular lymphomas (FL). This study aims to analyse the presence and distribution of BCL-6 gene mutations in a large series of primary bone lymphomas (PBL), a rare extranodal presentation of NHL frequently associated with diffuse large cell morphology. Fifty-three cases of PBL were examined. Mutations were detected with non-radioisotopic polymerase chain reaction-single strand conformation polymorphism and visualized with fluorescent cycle sequencing. Among stage IE PBL, there were 30 cases of DLBCL and one each of follicular, anaplastic large cell and peripheral T-cell lymphoma. The stage IIE PBL included six DLBCL and one lymphoplasmacytic lymphoma, whereas within stage IV PBL there were 12 DLBCL and one Burkitt lymphoma. Fifteen patients (28%) displayed mutational events. In nine cases there were more than one BCL-6 mutation. Only DLBCL displayed mutations (31%). Mutations included single base-pair substitutions (16 transitions and ten transversions) and a single point insertion (ins A 427-28). The frequency of mutations resulted lower in DLBCL of the PBL category than in the majority of other extranodal large cell lymphomas. The prevalence of mutations was higher in stage IE PBL than in more advanced stages of the disease (IIE + IV) (p=0.02). Our results reinforce the observation of heterogeneity of the DLBCL included in the clinical category of PBL.

AB - Somatic point mutations of the 5′ noncoding region of the BCL-6 gene have been described as genetic alterations in non-Hodgkin lymphomas (NHL). They are more frequent in diffuse large B cell (DLBCL) and follicular lymphomas (FL). This study aims to analyse the presence and distribution of BCL-6 gene mutations in a large series of primary bone lymphomas (PBL), a rare extranodal presentation of NHL frequently associated with diffuse large cell morphology. Fifty-three cases of PBL were examined. Mutations were detected with non-radioisotopic polymerase chain reaction-single strand conformation polymorphism and visualized with fluorescent cycle sequencing. Among stage IE PBL, there were 30 cases of DLBCL and one each of follicular, anaplastic large cell and peripheral T-cell lymphoma. The stage IIE PBL included six DLBCL and one lymphoplasmacytic lymphoma, whereas within stage IV PBL there were 12 DLBCL and one Burkitt lymphoma. Fifteen patients (28%) displayed mutational events. In nine cases there were more than one BCL-6 mutation. Only DLBCL displayed mutations (31%). Mutations included single base-pair substitutions (16 transitions and ten transversions) and a single point insertion (ins A 427-28). The frequency of mutations resulted lower in DLBCL of the PBL category than in the majority of other extranodal large cell lymphomas. The prevalence of mutations was higher in stage IE PBL than in more advanced stages of the disease (IIE + IV) (p=0.02). Our results reinforce the observation of heterogeneity of the DLBCL included in the clinical category of PBL.

KW - BCL-6 gene

KW - Extranodal non-Hodgkin lymphoma

KW - Lymphoma of the bone

KW - Mutation of the 5′ noncoding region

KW - Primary bone lymphoma

UR - http://www.scopus.com/inward/record.url?scp=0345688613&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0345688613&partnerID=8YFLogxK

U2 - 10.1007/s00277-003-0721-2

DO - 10.1007/s00277-003-0721-2

M3 - Article

VL - 82

SP - 691

EP - 695

JO - Annals of Hematology

JF - Annals of Hematology

SN - 0939-5555

IS - 11

ER -