Clinical characteristics and outcome of 318 families with familial monoclonal gammopathy : A multicenter Intergroupe Francophone du Myélome study
(2023) In American Journal of Hematology 98(2). p.264-271- Abstract
Familial forms of monoclonal gammopathy, defined as multiple myeloma (MM) or Monoclonal Gammopathy of Undetermined Significance (MGUS), are relatively infrequent and most series reported in the literature describe a limited number of families. MM rarely occurs in a familial context. MGUS is observed much more commonly, which can in some cases evolve toward full-blown MM. Although recurrent cytogenetic abnormalities have been described in tumor cells of sporadic cases of MM, the pathogenesis of familial MM remains largely unexplained. In order to identify genetic factors predisposing to familial monoclonal gammopathy, the Intergroupe Francophone du Myélome identified 318 families with at least two confirmed cases of monoclonal... (More)
Familial forms of monoclonal gammopathy, defined as multiple myeloma (MM) or Monoclonal Gammopathy of Undetermined Significance (MGUS), are relatively infrequent and most series reported in the literature describe a limited number of families. MM rarely occurs in a familial context. MGUS is observed much more commonly, which can in some cases evolve toward full-blown MM. Although recurrent cytogenetic abnormalities have been described in tumor cells of sporadic cases of MM, the pathogenesis of familial MM remains largely unexplained. In order to identify genetic factors predisposing to familial monoclonal gammopathy, the Intergroupe Francophone du Myélome identified 318 families with at least two confirmed cases of monoclonal gammopathy. There were 169 families with parent/child pairs and 164 families with cases in at least two siblings, compatible with an autosomal transmission. These familial cases were compared with sporadic cases who were matched for age at diagnosis, sex and immunoglobulin isotype, with 10 sporadic cases for each familial case. The gender distribution, age and immunoglobulin subtypes of familial cases were unremarkable in comparison to sporadic cases. With a median follow-up of 7.4 years after diagnosis, the percentage of MGUS cases having evolved to MM was 3%. The median overall survival of the 148 familial MM cases was longer than that of matched sporadic cases, with projected values of 7.6 and 16.1 years in patients older and younger than 65 years, respectively. These data suggest that familial cases of monoclonal gammopathy are similar to sporadic cases in terms of clinical presentation and carry a better prognosis.
(Less)
- author
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- publishing date
- 2023-02
- type
- Contribution to journal
- publication status
- published
- subject
- in
- American Journal of Hematology
- volume
- 98
- issue
- 2
- pages
- 8 pages
- publisher
- John Wiley & Sons Inc.
- external identifiers
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- scopus:85145380043
- pmid:36588407
- ISSN
- 0361-8609
- DOI
- 10.1002/ajh.26785
- language
- English
- LU publication?
- yes
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- 7aabda88-f6f7-4fef-90b6-720dcec4db84
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- 2023-02-13 14:53:03
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- 2024-06-13 23:42:18
@article{7aabda88-f6f7-4fef-90b6-720dcec4db84,
abstract = {{<p>Familial forms of monoclonal gammopathy, defined as multiple myeloma (MM) or Monoclonal Gammopathy of Undetermined Significance (MGUS), are relatively infrequent and most series reported in the literature describe a limited number of families. MM rarely occurs in a familial context. MGUS is observed much more commonly, which can in some cases evolve toward full-blown MM. Although recurrent cytogenetic abnormalities have been described in tumor cells of sporadic cases of MM, the pathogenesis of familial MM remains largely unexplained. In order to identify genetic factors predisposing to familial monoclonal gammopathy, the Intergroupe Francophone du Myélome identified 318 families with at least two confirmed cases of monoclonal gammopathy. There were 169 families with parent/child pairs and 164 families with cases in at least two siblings, compatible with an autosomal transmission. These familial cases were compared with sporadic cases who were matched for age at diagnosis, sex and immunoglobulin isotype, with 10 sporadic cases for each familial case. The gender distribution, age and immunoglobulin subtypes of familial cases were unremarkable in comparison to sporadic cases. With a median follow-up of 7.4 years after diagnosis, the percentage of MGUS cases having evolved to MM was 3%. The median overall survival of the 148 familial MM cases was longer than that of matched sporadic cases, with projected values of 7.6 and 16.1 years in patients older and younger than 65 years, respectively. These data suggest that familial cases of monoclonal gammopathy are similar to sporadic cases in terms of clinical presentation and carry a better prognosis.</p>}},
author = {{Dumontet, Charles and Demangel, Delphine and Galia, Perrine and Karlin, Lionel and Roche, Laurent and Fauvernier, Mathieu and Golfier, Camille and Laude, Marie Charlotte and Leleu, Xavier and Rodon, Philippe and Roussel, Murielle and Azaïs, Isabelle and Doyen, Chantal and Slama, Borhane and Manier, Salomon and Decaux, Olivier and Pertesi, Maroulio and Beaumont, Marie and Caillot, Denis and Boyle, Eileen M. and Cliquennois, Manuel and Cony-Makhoul, Pascale and Doncker, Anne Violaine and Dorvaux, Véronique and Petillon, Marie Odile and Fontan, Jean and Hivert, Bénédicte and Leduc, Isabelle and Leyronnas, Cécile and Macro, Margaret and Maigre, Michel and Mariette, Clara and Mineur, Philippe and Rigaudeau, Sophie and Royer, Bruno and Vincent, Laure and Mckay, James and Perrial, Emeline and Garderet, Laurent}},
issn = {{0361-8609}},
language = {{eng}},
number = {{2}},
pages = {{264--271}},
publisher = {{John Wiley & Sons Inc.}},
series = {{American Journal of Hematology}},
title = {{Clinical characteristics and outcome of 318 families with familial monoclonal gammopathy : A multicenter Intergroupe Francophone du Myélome study}},
url = {{http://dx.doi.org/10.1002/ajh.26785}},
doi = {{10.1002/ajh.26785}},
volume = {{98}},
year = {{2023}},
}