Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population

Abstract Background Klippel–Trenaunay syndrome (KTS) is a rare slow-flow combined vascular malformation with limb hypertrophy. KTS is thought to lie on the PIK3CA-related overgrowth spectrum, but reports are limited. PIK3CA encodes p110α, a catalytic subunit of phosphatidylinositol 3-kinase (PI3K) t...

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Bibliographic Details
Main Authors: Yuki Sasaki, Kosuke Ishikawa, Kanako C. Hatanaka, Yumiko Oyamada, Yusuke Sakuhara, Tadashi Shimizu, Tatsuro Saito, Naoki Murao, Tomohiro Onodera, Takahiro Miura, Taku Maeda, Emi Funayama, Yutaka Hatanaka, Yuhei Yamamoto, Satoru Sasaki
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Capillary malformations
High-throughput nucleotide sequencing
Klippel–Trenaunay Syndrome
Limb hypertrophy
Lymphatic abnormalities
Phosphatidylinositol 3-Kinase
Online Access:https://doi.org/10.1186/s13023-023-02893-1

Internet

https://doi.org/10.1186/s13023-023-02893-1

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