We report for the first time
DICER1 mutations in two infantile cerebellar embryonal tumors not otherwise specified (NOS). Two girls, aged 11 months (case 1) and 8 months (case 2) presented with psychomotor delay. Both MRIs showed a midline posterior fossa tumor (Fig.
1a, b). After gross total resection of the tumor, case 1 was treated with two cycles of etoposide/carboplatin. The controlled MRI showed spinal and leptomeningeal metastasis. After a subtotal resection, case 2 was treated according to institutional protocol for infant with high-risk CNS PNET. MRI showed an increase of the residual mass during maintenance chemotherapy.
This is a preview of subscription content, log in to check access.
Notes
Acknowledgements
We thank the “Société Française des Cancers de l’Enfant” and «Enfants et Santé» for their support. We are grateful to the neuropathologists from the French rare tumor network (RENOCLIP) and to Sylvie Duclos and Karen Silva for their help. Samples were retrieved from the CHU de Montpellier tumor bank BB-0033-00031 and from the CHU de Toulouse tumor bank BB-0033-00014. We thank Josh Waterfall and Sarah Lesagere for their help to edit the manuscript.
Supplementary Table1: Listing of the 78 childhood cancer genes of the targeted gene sequencing panel (Illumina_TruSeq Custom Amplicon) (PDF 27 kb)
References
1.
Capper D, Jones DTW, Sill M et al (2018) DNA methylation-based classification of central nervous system tumours. Nature 555:469–474CrossRefGoogle Scholar
2.
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 136:327–337CrossRefGoogle Scholar
3.
Korshunov A, Ryzhova M, Jones DT et al (2012) LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR). Acta Neuropathol 124:875–878CrossRefGoogle Scholar
4.
Sahm F, Jakobiec FA, Meyer J et al (2016) Somatic mutations of DICER1 and KMT2 are frequent in intraocular medulloepitheliomas. Genes Chromosomes Cancer 55:418–427CrossRefGoogle Scholar
5.
Schultz K, Williams GM, Kamihara J et al (2018) DICER1 and associated conditions: identification of at-risk individuals and recommended surveillance strategies. Clin Cancer Res 24:2251–2261CrossRefGoogle Scholar
6.
Spence T, Sin-Chan P, Picard D et al (2014) CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity. Acta Neuropathol 128:291–303CrossRefGoogle Scholar
7.
Wu MK, Vujanic GM, Fahiminiya S et al (2018) Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. Mod Pathol 31:169–178CrossRefGoogle Scholar
1.Departments of Pathology, Neurosurgery, Oncopediatry, Genetics and Molecular BiologyToulouse University HospitalToulouseFrance
2.INSERM U1037, Cancer Research Center of Toulouse (CRCT)ToulouseFrance
3.Departments of Genetics and of Oncopediatry and Young AdultsCurie InstituteParisFrance
4.INSERM U830, Laboratory of Translational Research in Pediatric Oncology, SIREDO Pediatric Oncology CenterCurie InstituteParisFrance
5.Hopp Children’s Cancer Center at the NCT (KiTZ)HeidelbergGermany
6.German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK)HeidelbergGermany
7.Departments of Pathology, Neurosurgery, Oncopediatry, and GeneticMontpellier University Medical CenterMontpellierFrance
8.Inserm UMR1048, Institut des Maladies Métaboliques et Cardiovasculaires (I2MC)ToulouseFrance
9.Plateforme Post-génomique P3S, Faculté de Médecine Pierre et Marie CurieParisFrance
10.Department of PathologySainte Anne University Medical CenterParisFrance
11.Department of PathologyMarseille University HospitalMarseilleFrance
12.Department of Pathology and Neuropathology, la Timone Hospital and UMR CNRS 7058, Neurophysiopathology Institute (INP)Aix-Marseille UniversityMarseilleFrance
13.Institute for Neuroscience of Montpellier (INM), INSERM U1051Montpellier University HospitalMontpellierFrance
