A diagnostic challenge of KIT p.V559D and BRAF p.G469A mutations in a paragastric mass.
Oncologist
; 29(10): 908-912, 2024 Oct 03.
Article
in En
| MEDLINE
| ID: mdl-38886160
ABSTRACT
A patient with gastrointestinal stroma tumor (GIST) and KIT p.V559D and BRAF p.G469A alterations was referred to our institutional molecular tumor board (MTB) to discuss therapeutic implications. The patient had been diagnosed with B-cell chronic lymphocytic leukemia (CLL) years prior to the MTB presentation. GIST had been diagnosed 1 month earlier. After structured clinical annotation of the molecular alterations and interdisciplinary discussion, we considered BRAF/KIT co-mutation unlikely in a treatment-naïve GIST. Discordant variant allele frequencies furthermore suggested a second malignancy. NGS of a CLL sample revealed the identical class 2 BRAF alteration, thus supporting admixture of CLL cells in the paragastric mass, leading to the detection of 2 alterations. Following the MTB recommendation, the patient received imatinib and had a radiographic response. Structured annotation and interdisciplinary discussion in specialized tumor boards facilitate the clinical management of complex molecular findings. Coexisting malignancies and clonal hematopoiesis warrant consideration in case of complex and uncommon molecular findings.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Proto-Oncogene Proteins c-kit
/
Gastrointestinal Stromal Tumors
/
Proto-Oncogene Proteins B-raf
/
Mutation
Limits:
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Oncologist
Journal subject:
NEOPLASIAS
Year:
2024
Document type:
Article
Affiliation country:
Germany
Country of publication:
United kingdom