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Clinicopathological analysis of BRAF and non-BRAF MAPK pathway-altered gliomas in paediatric and adult patients: a single-institution study of 40 patients.
Ali, Rola H; Almanabri, Mohamad; Ali, Nawal Y; Alsaber, Ahmad R; Khalifa, Nisreen M; Hussein, Rania; Alateeqi, Mona; Mohammed, Eiman M A; Jama, Hiba; Almarzooq, Ammar; Benobaid, Noelle; Alqallaf, Zainab; Ahmed, Amir A; Bahzad, Shakir; Almurshed, Maryam.
Afiliación
  • Ali RH; Department of Pathology, College of Medicine, Kuwait University, Jabriya, Hawalli, Kuwait rola.ali@ku.edu.kw.
  • Almanabri M; Department of Histopathology, Al Sabah Hospital, Shuwaikh, Al Asimah, Kuwait.
  • Ali NY; Department of Neurosurgery, Ibn Sina Hospital, Shuwaikh, Al Asimah, Kuwait.
  • Alsaber AR; Department of Radiology, Ibn Sina Hospital, Shuwaikh, Al Asimah, Kuwait.
  • Khalifa NM; Department of Management, College of Business and Economics, American University of Kuwait, Salmiya, Hawalli, Kuwait.
  • Hussein R; Department of Pediatric Hematology/Oncology, NBK Children's Hospital, Shuwaikh, Al Asimah, Kuwait.
  • Alateeqi M; Department of Radiation Oncology, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
  • Mohammed EMA; Molecular Genetics Laboratory, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
  • Jama H; Molecular Genetics Laboratory, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
  • Almarzooq A; Molecular Genetics Laboratory, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
  • Benobaid N; Molecular Genetics Laboratory, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
  • Alqallaf Z; Molecular Genetics Laboratory, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
  • Ahmed AA; Molecular Genetics Laboratory, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
  • Bahzad S; Molecular Genetics Laboratory, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
  • Almurshed M; Molecular Genetics Laboratory, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
J Clin Pathol ; 2024 Jan 09.
Article en En | MEDLINE | ID: mdl-38195220
ABSTRACT

AIMS:

Mitogen-activated protein kinase (MAPK) pathway alteration is a major oncogenic driver in paediatric low-grade gliomas (LGG) and some adult gliomas, encompassing BRAF (most common) and non-BRAF alterations. The aim was to determine the frequency, molecular spectrum and clinicopathological features of MAPK-altered gliomas in paediatric and adult patients at our neuropathology site in Kuwait.

METHODS:

We retrospectively searched the data of molecularly sequenced gliomas between 2018 and 2023 for MAPK alterations, revised the pathology in view of the 2021 WHO classification and evaluated the clinicopathological data for possible correlations.

RESULTS:

Of 272 gliomas, 40 (15%) harboured a MAPK pathway alteration in 19 paediatric (median 9.6 years; 1.2-17.6) and 21 adult patients (median 37 years; 18.9-89.2), comprising 42% and 9% of paediatric and adult cases, respectively. Pilocytic astrocytoma and glioblastoma were the most frequent diagnoses in children (47%) and adults (43%), respectively. BRAF V600E (n=17, 43%) showed a wide distribution across age groups, locations and pathological diagnoses while KIAA1549BRAF fusion (n=8, 20%) was spatially and histologically restricted to cerebellar paediatric LGGs. Non-V600E variants and BRAF amplifications accompanied other molecular aberrations in high-grade tumours. Non-BRAF MAPK alterations (n=8) included mutations and gene fusions involving FGFR1, NTRK2, NF1, ROS1 and MYB. Fusions included KANK1NTRK2, GOPCROS1 (both infant hemispheric gliomas), FGFR1TACC1 (diffuse LGG), MYBQKI (angiocentric glioma) and BCRNTRK2 (glioblastoma). Paradoxical H3 K27M/MAPK co-mutations were observed in two LGGs.

CONCLUSION:

The study provided insights into MAPK-altered gliomas in Kuwait highlighting the differences among paediatric and adult patients and providing a framework for planning therapeutic polices.
Palabras clave

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: J Clin Pathol Año: 2024 Tipo del documento: Article País de afiliación: Kuwait

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: J Clin Pathol Año: 2024 Tipo del documento: Article País de afiliación: Kuwait