Intracranial mesenchymal tumor, FET::CREB fusion-positive: An integrative analysis of 81 cases.
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Rajan Sharika, Chung Hye-Jung, Wu Zhichao, Singh Omkar, Dazelle Karen, Abdullaev Zied, Tyagi Manoj, Ferrone Christina K, Raffeld Mark, Lee Ina, Gagan Jeffrey, Chen Jie, Cathcart Sahara, Giannini Caterina, Nguyen Aivi, Gokden Murat, Perry Arie, Fernandes Igor Lima, Putnam Angelica R, Kurek Kyle, Green Richard M, Eberhart Charles, Lucas Calixto-Hope, Gonzalez-Gomez Ignacio, Lopez Giselle Yvette, Jones Karra, Prayson Richard, Yeaney Gabrielle, Dermawan Josephine Kam Tai, Chkheidze Rati, Appin Christina, Uhlmann Erik J, Taliansky Alisa, Blessing Melissa, Mohila Carrie, Cotter Jennifer, Deisch Jeremy, Andreiuolo Felipe, Crawford John R, Mount Christopher, Stemmer-Rachamimov Anat O, Lakis Nelli S, Schmidt Robert, Chacko Geeta, Newbury Robert, Neill Stewart, Morales Bryan, Fecher Roger, Sloan Emily A, Solomon David A, Nasrallah MacLean, Quezado Martha, Fonseca Adriana, Aldape Kenneth
Аннотация
METHODS: We study the methylation profiles of 81 ICMT cases (61 newly profiled cases and 20 cases from publicly available sources). Clinicopathologic and genomic data were recorded for each case when available.
RESULTS: ICMT showed a relatively distinct methylation signature compared to related tumors. Among the 65 cases where fusion types were documented, the identified fusions included EWSR1::ATF1 (25 cases), EWSR1::CREB1 (12 cases), EWSR1::CREM (21 cases), FUS::CREM (3 cases), and SMARCA2::CREM (4 cases). We confirmed the prior description of 2 distinct subgroups of ICMT (subclasses A and B). The majority of the cases belonged to subclass A (n = 69; 85%), which showed a higher median age compared to subclass B patients (26 years vs. 15 years). Subclass B cases (n = 12; 15%) showed shorter progression-free survival (P < 0.01). Gene expression analysis of ICMT showed key overexpressed markers in ICMT, with significant CREM overexpression regardless of fusion type, when compared to either meningioma alone or a larger group of CNS tumors.
CONCLUSIONS: This work provides further characterization of ICMT as an important CNS mesenchymal neoplasm that is prone to tumor recurrence, showing 2 prognostically relevant methylation subclasses and warranting diagnostic distinction from other epigenetically and histologically related tumors. ICMTs show substantial overexpression of the CREM gene, independent of fusion type.