Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare …

O Michaeli, SY Kim, SG Mitchell… - Clinical Cancer …, 2024 - aacrjournals.org
The management of children with syndromes associated with an increased risk of benign
and malignant neoplasms is a complex challenge for health care professionals. The 2023 …

[HTML][HTML] Ollier Disease, Acute Myeloid Leukemia, and Brain Glioma: IDH as the Common Denominator

S Corvino, T Somma, F Certo, G Bonomo, E Grasso… - Cancers, 2024 - mdpi.com
Simple Summary Thanks to the continuous refinement of diagnostic tools, the role of
molecular markers analysis has become even more decisive in tumor diagnosis and …

A rare co-occurrence of maffucci syndrome and astrocytoma with IDH1 R132H mutation: a case report

N Ashirov, I Mammadinova, A Moldabekov… - Medicina, 2023 - mdpi.com
Background: Maffucci syndrome is a rare genetic disorder associated with the development
of multiple enchondromas and soft tissue cavernous hemangiomas, as well as an increased …

Ollier Disease with Malignant Transformation into Chondrosarcoma: Case Reports and a Review of Literature

WL Kao, CL Wu, HY Lin, HTH Wu… - Journal of Radiological …, 2024 - journals.lww.com
Ollier disease (enchondromatosis) is a relatively rare disorder characterized by multiple
asymmetrically distributed enchondromas. Some patients with this condition develop …

SÍNDROME DE OLLIER: UMA REVISÃO NARRATIVA

CP Hollerweger, C da Costa… - Revista …, 2023 - ojs.revistacontemporanea.com
A síndrome de Ollier é uma doença rara ocasionada por uma desordem na ossificação
gerando um crescimento ósseo anormal, sendo primordialmente assintomático, mas …

IDH1 p. R132C 変異を有し進行性に悪性転化したOllier 病合併多発神経膠腫の1 例

渡邊元, 藤井雄, 花岡吉亀, 田中美幸, 岩谷舞… - 臨床神経学, 2024 - jstage.jst.go.jp
要旨 21 歳男性. 1 歳時に Ollier 病と診断, 15 歳時に偶発的に多発神経膠腫を認めた.
その後増大したため, 3 回摘出術を施行した. 遺伝子解析では IDH1 p. R132C 変異を認め …