Mazabraud's syndrome: A case report supported by molecular studies and review of the literature

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F23%3A10464798" target="_blank" >RIV/00064203:_____/23:10464798 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/23:10464798

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=c06M4YhX0P" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=c06M4YhX0P</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.bonr.2023.101685" target="_blank" >10.1016/j.bonr.2023.101685</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Mazabraud's syndrome: A case report supported by molecular studies and review of the literature

Popis výsledku v původním jazyce

Mazabraud&apos;s syndrome represents rare benign disorder characterized by simultaneous occurrence of fibrous dysplasia of bone and intramuscular myxomas within surrounding soft tissue. Mutations of GNAS1 gene were proven to be causative for this condition. Here, we present a case report of a patient with unusual manifestation of this disease, who developed a pathological fracture of the femur in the setting of monostotic fibrous dysplasia. The intramuscular myxoma of the thigh was discovered during the following orthopedic operation, where the intraoperative diagnosis became a pitfall of the case, as the intramuscular myxoma was initially diagnosed as a low-grade sarcoma from the frozen section. Apart from clinical findings, the diagnosis of Mazabraud&apos;s syndrome was further proven by histopathological evaluation and molecular studies of GNAS1 gene. This case raises awareness of such condition as it can easily become a diagnostic pitfall. (C) 2023 The Authors

Název v anglickém jazyce

Mazabraud's syndrome: A case report supported by molecular studies and review of the literature

Popis výsledku anglicky

Mazabraud&apos;s syndrome represents rare benign disorder characterized by simultaneous occurrence of fibrous dysplasia of bone and intramuscular myxomas within surrounding soft tissue. Mutations of GNAS1 gene were proven to be causative for this condition. Here, we present a case report of a patient with unusual manifestation of this disease, who developed a pathological fracture of the femur in the setting of monostotic fibrous dysplasia. The intramuscular myxoma of the thigh was discovered during the following orthopedic operation, where the intraoperative diagnosis became a pitfall of the case, as the intramuscular myxoma was initially diagnosed as a low-grade sarcoma from the frozen section. Apart from clinical findings, the diagnosis of Mazabraud&apos;s syndrome was further proven by histopathological evaluation and molecular studies of GNAS1 gene. This case raises awareness of such condition as it can easily become a diagnostic pitfall. (C) 2023 The Authors

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30109 - Pathology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Bone Reports [online]

ISSN

2352-1872

e-ISSN

—

Svazek periodika

18

Číslo periodika v rámci svazku

June

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

101685

Kód UT WoS článku

001009818000001

EID výsledku v databázi Scopus

2-s2.0-85159896269