Severe hypoglycemia and finger clubbing in a patient with a BRCA1 mutation in a solitary fibrous tumor: a case report.
Ann Transl Med
; 9(13): 1093, 2021 Jul.
Article
en En
| MEDLINE
| ID: mdl-34423005
Solitary fibrous tumors (SFTs) are rare tumors that stem from mesenchymal cells of submesothelial tissues belonging to the pleura. They can occur in many places such as the spinal canal, intracranial, neck, kidney, liver, pelvis, limbs and other places, most commonly in the chest and abdomen. Pleural SFTs are one of the most common types, and are common in middle-aged people. Pleural SFTs can have an insidious expression, such that the illness can progress for years before diagnosis. SFTs can induce paraneoplastic syndromes, such as reactive hypoglycemia [Doege-Potter syndrome (DPS)] or hypertrophic osteoarthropathy [Pierre-Marie-Bamberger syndrome (PMBS)]. In this article, we report a case study of a 51-year-old man with pleural SFTs. Preoperative imaging examinations, including chest X-ray, computed tomography (CT), and magnetic resonance imaging (MRI), showed a huge mass in the right thoracic cavity, compressing surrounding tissues and organs and may invade other tissues. In addition, he suffers from severe hypoglycemia and finger clubbing, and has successfully undergone a complete resection, and now attends regular follow-up appointments. The paraneoplastic syndromes have resolved, and no recurrence has been found. Importantly, we used next-generation sequencing (NGS) to explore the molecular characteristics of the patient's pathological tissue at the DNA level and mRNA level, and found that breast cancer gene 1 (BRAC1) mutations may be an important pathogenic factor.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Ann Transl Med
Año:
2021
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
China