title: Malignant rhabdoid tumor in a pregnant adult female: literature review of central nervous system rhabdoid tumors.
abstract: Rhabdoid tumors of the central nervous system are uncommon, aggressive childhood malignancies. The 13 described adult cases comprise both primary CNS tumors and malignant transformation of previously existing gliomas, meningiomas, and astrocytomas. Central nervous system rhabdoid lesions of adults have been diagnosed as primary malignant rhabdoid tumors, atypical teratoid/rhabdoid tumors, and more recently, rhabdoid glioblastomas. We report a case of a 20-year-old woman in her 30th week of pregnancy who presented with headache, nausea and blurry vision. MRI revealed a large rim-enhancing mass of the right occipital lobe. Gross total resection was achieved via a right parietal-occipital craniotomy. Pathologic evaluation revealed histology, electron microscopy and immunohistochemistry consistent with the diagnosis of malignant rhabdoid tumor. FISH studies were negative for the INI-1 genetic mutations and chromosome 22q deletion associated with childhood atypical rhabdoid/rhabdoid tumor in 75% of cases. The patient delivered her infant via caesarian section prior to initiating further therapy. We briefly describe the characteristics and current understanding of rhabdoid tumors, and review the literature comparing the 12 other cases of central nervous system rhabdoid tumors in adults. Furthermore, we consider and discuss the implications of this case being the second presentation of MRT during pregnancy in only six adult female patients.
authors.affiliation: Department of Pathology, Yale University School of Medicine, New Haven, CT 06520-8023, USA.
authors.forename: Michelle L
authors.initials: ML
authors.lastname: Erickson
authors.forename: Randall
authors.initials: R
authors.lastname: Johnson
authors.forename: Serguei I
authors.initials: SI
authors.lastname: Bannykh
authors.forename: Alain
authors.initials: A
authors.lastname: de Lotbiniere
authors.forename: Jung H
authors.initials: JH
authors.lastname: Kim
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000473:pathology* / Q000532:radiotherapy / Q000601:surgery; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008279:Magnetic Resonance Imaging; D046529:Microscopy, Electron, Transmission; D011247:Pregnancy; D011252:Pregnancy Complications, Neoplastic / Q000473:pathology* / Q000601:surgery; D018335:Rhabdoid Tumor / Q000473:pathology* / Q000532:radiotherapy / Q000601:surgery