Literature DB >> 29804209

Mutational analysis of high-grade spindle cell sarcoma of the femur in Mazabraud's syndrome.

Michele Calleja1, Fernanda Amary2,3, Paul O'Donnell4,5.   

Abstract

Mazabraud's syndrome is a rare disorder characterised by the association of fibrous dysplasia with intramuscular myxomas. We present a 36-year-old woman with right anterior knee pain and a buttock mass. Imaging showed aggressive bone destruction within an area of fibrous dysplasia in the right femur and a mass with myxoid signal characteristics in the right adductor region. Biopsy of the femur revealed both fibrous dysplasia and a high-grade spindle cell sarcoma. Biopsy of the adductor mass confirmed a soft-tissue myxoma. Molecular genetic analysis revealed an identical R201H substitution in the GNAS1 gene in the sarcoma, the myxoma, and also the conventional fibrous dysplasia.

Entities:  

Keywords:  Fibrous dysplasia; GNAS1 gene; High-grade spindle cell sarcoma; Mazabraud’s syndrome; Myxoma

Mesh：

Substances：

Year:  2018        PMID： 29804209     DOI： 10.1007/s00256-018-2975-8

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


  10 in total

1.  A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone.

Authors:  B D Idowu; M Al-Adnani; P O'Donnell; L Yu; E Odell; T Diss; R E Gale; A M Flanagan
Journal:  Histopathology       Date:  2007-05       Impact factor: 5.087

Review 2.  Mazabraud's syndrome: a new case and review of the literature.

Authors:  Carmine Zoccali; Giuseppe Teori; Umberto Prencipe; Fabio Erba
Journal:  Int Orthop       Date:  2008-01-24       Impact factor: 3.075

3.  Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Authors:  W F Schwindinger; C A Francomano; M A Levine
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205

4.  Mazabraud's syndrome. A case with multiple myxomas.

Authors:  E Gaumétou; B Tomeno; P Anract
Journal:  Orthop Traumatol Surg Res       Date:  2012-05-18       Impact factor: 2.256

Review 5.  Fibrous dysplasia.

Authors:  Nicole D Riddle; Marilyn M Bui
Journal:  Arch Pathol Lab Med       Date:  2013-01       Impact factor: 5.534

6.  [Apropos of the association of fibromyxomas of the soft tissues with fibrous dysplasia of the bones].

Authors:  A Mazabraud; P Semat; R Roze
Journal:  Presse Med       Date:  1967-10-25       Impact factor: 1.228

7.  GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma.

Authors:  David Delaney; Tim C Diss; Nadege Presneau; Sandra Hing; Fitim Berisha; Bernadine D Idowu; P O'Donnell; John A Skinner; Roberto Tirabosco; Adrienne M Flanagan
Journal:  Mod Pathol       Date:  2009-03-13       Impact factor: 7.842

Review 8.  Locally aggressive fibrous dysplasia mimicking malignancy: a report of four cases and review of the literature.

Authors:  Saravanaraja Muthusamy; Ty Subhawong; Sheila A Conway; H Thomas Temple
Journal:  Clin Orthop Relat Res       Date:  2014-09-12       Impact factor: 4.176

9.  Osteosarcoma in a pregnant patient with McCune-Albright syndrome.

Authors:  Ippei Kanazawa; Mika Yamauchi; Shozo Yano; Yasuo Imanishi; Riko Kitazawa; Yoshiki Nariai; Asuka Araki; Keisuke Kobayashi; Masaaki Inaba; Riruke Maruyama; Toru Yamaguchi; Toshitsugu Sugimoto
Journal:  Bone       Date:  2009-05-28       Impact factor: 4.398

10.  Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.

Authors:  Serge Lumbroso; Françoise Paris; Charles Sultan
Journal:  J Clin Endocrinol Metab       Date:  2004-05       Impact factor: 5.958
  10 in total
  2 in total

1.  Intramuscular myxoma of the biceps brachii muscle: a case report.

Authors:  Lina Pankratjevaite; Louise Fischer Christensen; Tadas Pranckevicius; Sigita Razbadauskiene
Journal:  J Surg Case Rep       Date:  2022-04-11

2.  Osteosarcomatous Transformation in the Setting of Mazabraud's Syndrome: A Case Report and Review of the Literature.

Authors:  Iqbal Multani; Snezana Popovic; Naveen Parasu; Michelle Ghert
Journal:  Case Rep Orthop       Date:  2019-05-28
  2 in total

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