de Kock L, Priest JR, Foulkes WD et al (2020) An update on the central nervous system manifestations of DICER1 syndrome. Acta Neuropathol 139:689–701
Vuong HG, Le MK, Dunn IF (2022) A systematic review of the clinicopathological features and prognostic outcomes of DICER1-mutant malignant brain neoplasms. J Neurosurg Pediatr. https://doi.org/10.3171/2022.6.Peds22119:1-8
Article PubMed PubMed Central Google Scholar
Lachance A, Dimentberg E, Huang S et al (2024) Recurrent primary intracranial sarcoma, DICER1-mutant in a pediatric patient with DICER1 syndrome: the importance of molecular testing. Childs Nerv Syst. https://doi.org/10.1007/s00381-024-06356-1
Sakaguchi M, Nakano Y, Honda-Kitahara M et al (2019) Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a “spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant.” Brain Tumor Pathol 36:174–182
Article PubMed CAS Google Scholar
Schultz KAP, Williams GM, Kamihara J et al (2018) DICER1 and associated conditions: identification of At-risk individuals and recommended surveillance strategies. Clin Cancer Res 24:2251–2261
Article PubMed PubMed Central CAS Google Scholar
González IA, Stewart DR, Schultz KAP et al (2022) DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Mod Pathol 35:4–22
Cardona AF, Chamorro Ortiz DF, Ruíz-Patiño A et al (2023) DICER1-associated central nervous system sarcoma: A comprehensive clinical and genomic characterization of case series of young adult patients. Neurooncol Pract 10:381–390
PubMed PubMed Central Google Scholar
Diaz Coronado RY, Mynarek M, Koelsche C et al (2022) Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric peruvian patients. Cancer 128:697–707
Article PubMed CAS Google Scholar
Yang K, Wang J, Kanwar N et al (2022) A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL. Brain Tumor Pathol 39:225–231
Article PubMed CAS Google Scholar
Koelsche C, Mynarek M, Schrimpf D et al (2018) Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. Acta Neuropathol 136:327–337
Article PubMed CAS Google Scholar
Tateishi K, Miyake Y, Kawazu M et al (2020) A hyperactive RelA/p65-hexokinase 2 signaling axis drives primary central nervous system lymphoma. Cancer Res 80:5330–5343
Vedanayagam J, Chatila WK, Aksoy BA et al (2019) Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis. Nat Commun 10:3682
Article PubMed PubMed Central Google Scholar
Fujimoto K, Arita H, Satomi K et al (2021) TERT promoter mutation status is necessary and sufficient to diagnose IDH-wildtype diffuse astrocytic glioma with molecular features of glioblastoma. Acta Neuropathol 142:323–338
Article PubMed CAS Google Scholar
Nadaf J, de Kock L, Chong AS et al (2021) Molecular characterization of DICER1-mutated pituitary blastoma. Acta Neuropathol 141:929–944
Article PubMed CAS Google Scholar
Foulkes WD, Priest JR, Duchaine TF (2014) DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer 14:662–672
Article PubMed CAS Google Scholar
Anglesio MS, Wang Y, Yang W et al (2013) Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage. J Pathol 229:400–409
Article PubMed CAS Google Scholar
Lee JC, Villanueva-Meyer JE, Ferris SP et al (2019) Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1. Acta Neuropathol 137:521–525
Article PubMed PubMed Central Google Scholar
Lafay-Cousin L, Lindzon G, Taylor MD et al (2016) Successful treatment of primary intracranial sarcoma with the ICE chemotherapy regimen and focal radiation in children. J Neurosurg Pediatr 17:298–302
Tateishi K, Nakamura T, Juratli TA et al (2019) PI3K/AKT/mTOR pathway alterations promote malignant progression and xenograft formation in oligodendroglial tumors. Clin Cancer Res 25:4375–4387
Article PubMed PubMed Central CAS Google Scholar
Schweizer L, Hartmann W, Koch A et al (2022) Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS-mutant neurocutaneous melanosis. Neuropathol Appl Neurobiol 48:e12830
Article PubMed CAS Google Scholar
Xu H, Hu J, Song Y et al (2021) Retinoic acid metabolism-related enzyme signature identified prognostic and immune characteristics in sarcoma. Front Cell Dev Biol 9:780951
O’Brien E, Tse C, Tracy I et al (2023) Pharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cells. Clin Epigenetics 15:167
Article PubMed PubMed Central CAS Google Scholar
Altucci L, Gronemeyer H (2001) The promise of retinoids to fight against cancer. Nat Rev Cancer 1:181–193
Article PubMed CAS Google Scholar
Thorner PS, Chong AS, Nadaf J et al (2022) PRAME protein expression in DICER1-related tumours. J Pathol Clin Res 8:294–304
Article PubMed PubMed Central CAS Google Scholar
Epping MT, Wang L, Edel MJ et al (2005) The human tumor antigen PRAME is a dominant repressor of retinoic acid receptor signaling. Cell 122:835–847
Article PubMed CAS Google Scholar
Bullinger L, Schlenk RF, Götz M et al (2013) PRAME-induced inhibition of retinoic acid receptor signaling-mediated differentiation–a possible target for ATRA response in AML without t(15;17). Clin Cancer Res 19:2562–2571
留言 (0)