A rational approach to the CNS tumors diagnostics

Česká verzia

Authors: Lenka Krsková ¹; Barbora Šípalová ¹; Tereza Němečková ¹; Martina Strnadová ¹; Tereza Kalendová ¹; Alena Kalfusová ¹; Alexandra; Malkusová ¹; Monika Šandová ¹; Miroslav Koblížek ¹; Jan Balko ¹; Aleš Vícha ²; Petr Brož ^2,3; Pavla Jenčová ²; Lucie Štolová ²; Dagmar; Voříšková ²; Marie Belhajová ²; Michal Zápotocký ²; David Sumerauer ²; Josef Zámečník ¹
Authors place of work: Ústav patologie a molekulární medicíny, 2. LF UK a FN Motol, Praha ¹; Klinika dětské hematologie a onkologie, 2. LF UK a FN Motol, Praha ²; Bioxsys s. r. o., Ústí nad Labem ³
Published in the journal: Čes.-slov. Patol., 58, 2022, No. 3, p. 135-137
Category: Reviews Article

Summary

The new WHO classification of CNS tumors is largely based on molecular diagnostic. Without molecular methods some entities can no longer be diagnosed. We are trying to show a rational approach to the CNS tumors diagnostics, which is based on conventional molecular methods such as RT-PCR, Sanger sequencing, MLPA, extended by the next generation sequencing (NGS) and methylation SNP array.

Keywords:

next generation sequencing (NGS) – RT-PCR – WHO classification – CNS tumors – MLPA – Methylation SNP array

Zdroje

1. Louis DN, Perry A, Wesseling P, et al. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol 2021; 23(8): 1231-1251.

2. IARC Publications Website - Central Nervous System Tumours. Accessed March 30, 2022.

3. Krsková L, Kalinová M, Němečková T, et al. Next generation sequencing - a science tool or routine pathology? Cesk Patol 2021; 57(3): 136-143.

4. Vícha A, Štolová L, Jenčová P, et al. Methylation pattern in the diagnosis and prognosis of brain cancer. Cesk Patol 2021; 57(3): 154-160.

5. Capper D, Stichel D, Sahm F, et al. Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience. Acta Neuropathol 2018; 136(2): 181-210.

6. Clarke M, Mackay A, Ismer B, et al. Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes. Cancer Discov 2020; 10(7): 942-963.

7. Guerreiro Stucklin AS, Ryall S, Fukuoka K, et al. Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas. Nat Commun 2019; 10(1): 1-13.