KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib

Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib.

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Bibliographic Details
Published in:Clinical genetics 2021-10, Vol.100 (4), p.484-485
Main Authors: Lacasta‐Plasin, Clara, Martinez‐Glez, Victor, Rodriguez‐Laguna, Lara, Cervantes‐Pardo, Antonio, Martinez‐Menchon, Teresa, Sanchez‐Jimenez, Regina, Campos‐Dominguez, Minia
Format: Article
Language:English
Subjects:
Antineoplastic Combined Chemotherapy Protocols - therapeutic use
Biopsy
Child, Preschool
Disease Management
DNA-Binding Proteins - genetics
Female
Genetic Association Studies
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Lymphangioleiomyomatosis - diagnosis
Lymphangioleiomyomatosis - drug therapy
Lymphangioleiomyomatosis - genetics
Melorheostosis
Melorheostosis - diagnosis
Melorheostosis - drug therapy
Melorheostosis - genetics
Membrane Proteins - genetics
Mutation
Proto-Oncogene Proteins p21(ras) - genetics
Pyridones
Pyrimidinones
Rapamycin
Sirolimus
Stenosis
Tomography, X-Ray Computed
Treatment Outcome
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Description
Summary:Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14018