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Conventional Chondrosarcoma in a Survivor of Rhabdoid Tumor: Enlarging The Spectrum of Tumors Associated With SMARCB1 Germline Mutations.
MedLine Citation:
PMID:  23154773     Owner:  NLM     Status:  In-Data-Review    
SMARCB1 germline mutations mainly predispose to rhabdoid tumors. However, less aggressive tumors with a later onset have also been reported in a context of SMARCB1 constitutional mutation-that is, schwannomatosis and meningiomatosis. No other tumor type has formally been observed in such a context thus far. We report on a patient treated for a thoracic malignant rhabdoid tumor at 8 years of age who subsequently developed a mandibular conventional chondrosarcoma at 13 years of age. Both tumors showed a loss of BAF47 expression. The malignant rhabdoid tumor exhibited a large 22q11.2 deletion and an intragenic deletion of SMARCB1 (exons 1 to 3), thus leading to a biallelic inactivation. A 2.8 Mbp deletion encompassing SMARCB1 was found in the germline. This context was a strong incentive to investigate SMARCB1 alterations in the second tumor. As expected, the chondrosarcoma showed the large 22q11.2 deletion but also an additional c.243C>G(p.Tyr18X) premature stop codon in the remaining allele. This report relates for the first time a pediatric conventional chondrosarcoma to the wide family of SMARCB1-deficient tumors. Moreover, we report here the first case of conventional chondrosarcoma arising in a context of constitutional SMARCB1 deletion and, thus, enlarge the spectrum of this tumor predisposition syndrome.
Fabien Forest; Audrey David; Sandrine Arrufat; Gaelle Pierron; Dominique Ranchere-Vince; Jean-Louis Stephan; Alix Clemenson; Olivier Delattre; Franck Bourdeaut
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The American journal of surgical pathology     Volume:  36     ISSN:  1532-0979     ISO Abbreviation:  Am. J. Surg. Pathol.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7707904     Medline TA:  Am J Surg Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1892-6     Citation Subset:  IM    
*Département de Pathologie †Département d'oncologie pédiatrique, Centre Hospitalier ∥Université de Saint-Etienne, Saint-Etienne ‡Unité de Génétique Somatique ¶Laboratoire de génétique et biologie des cancers, INSERM U830 #Département d'oncologie Pédiatrique, Institut Curie, Paris §Département de pathologie, Centre Léon Bérard, Lyon, France.
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