| Title |
A systematic review of Bannayan – Riley – Ruvalcaba syndrome / |
| Authors |
Kapačinskaitė, Medeinė ; Stratica, Natalia ; Adomaitienė, Irina ; Rascon, Jelena ; Vaišnytė, Birutė |
| DOI |
10.1038/s41598-024-71991-2 |
| Full Text |
|
| Is Part of |
Scientific reports.. Berlin : Springer. 2024, vol. 14, iss. 1, art. no. 21119, p. [1-8].. eISSN 2045-2322 |
| Abstract [eng] |
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth condition caused by a pathogenic variant in the phosphatase and tensin homolog (PTEN) gene and belongs to a group of disorders called PTEN hamartoma tumor syndrome (PHTS). The diagnosis is often complicated by great phenotypic diversity. Furthermore, to this date treatment options are limited. Here we performed a systematic review using PubMed, Cochrane, and Scopus databases to identify cases of pediatric patients diagnosed with BRRS and summarized information about the clinical presentation, treatment, and long-term patient care. A total of 83 pediatric patients with BRRS were identified. The most common clinical findings were macrocephaly (77%) and developmental disorders (63%). Surgical interventions were the treatment of choice, described in 19 articles. Patient surveillance was proposed in 15 case reports and mostly aimed at periodic cancer screening. Recognition of BRRS clinical symptoms and early referral to a geneticist is important for better disease control and overall prognosis. As targeted treatment is still lacking, symptom relief and long-term surveillance remain the main management strategies. |
| Published |
Berlin : Springer |
| Type |
Journal article |
| Language |
English |
| Publication date |
2024 |
| CC license |
|
