CNS Low-grade Diffusely Infiltrative Tumors With INI1 Deficiency, Possessing a High Propensity to Progress to Secondary INI1-deficient Rhabdoid Tumors

التفاصيل البيبلوغرافية
العنوان: CNS Low-grade Diffusely Infiltrative Tumors With INI1 Deficiency, Possessing a High Propensity to Progress to Secondary INI1-deficient Rhabdoid Tumors
المؤلفون: Akihiro Tamura, Satoshi Nakata, Ichiro Ito, Nakamasa Hayashi, Yoshiko Nakano, Junko Hirato, Makiko Yoshida, Daiichiro Hasegawa, Noriaki Sakamoto, Atsufumi Kawamura, Sumihito Nobusawa, Koichi Ichimura, Yoshiyuki Kosaka, Takuma Oishi, Eiichi Ishikawa, Reiko Watanabe, Naoki Okura, Hideaki Yokoo, Chiaki Murakami
المصدر: American Journal of Surgical Pathology. 44:1459-1468
بيانات النشر: Ovid Technologies (Wolters Kluwer Health), 2020.
سنة النشر: 2020
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Central nervous system, Tumor cells, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Child, Rhabdoid Tumor, Diffusely infiltrative, Brain Neoplasms, business.industry, Rhabdoid tumors, Neoplasms, Second Primary, Histology, SMARCB1 Protein, Cell Transformation, Neoplastic, medicine.anatomical_structure, Cytoplasm, 030220 oncology & carcinogenesis, Disease Progression, Immunohistochemistry, Surgery, Anatomy, business, 030217 neurology & neurosurgery
الوصف: Atypical teratoid/rhabdoid tumors (AT/RTs) are highly malignant tumors of the central nervous system that predominantly occur in infants, and are characterized by the presence of rhabdoid cells and inactivation of INI1 or (rarely) BRG1. Most AT/RT are identified as primary tumors; however, rare AT/RT or INI1-deficient RTs arising from other primary tumors have been reported. Here, we report 3 cases of hitherto unclassifiable low-grade tumors with loss of INI1 nuclear expression, for which we propose the designation of central nervous system low-grade diffusely infiltrative tumors with INI1 deficiency (CNS LGDIT-INI1), 2 of which progressed to secondary RT. All 3 CNS LGDIT-INI1 exhibited a similar histology: diffusely distributed small tumor cells with round to oval or irregular nuclei and scant cytoplasm were admixed with degenerative neurons and large reactive astrocytes in an edematous, myxoid, or collagenous background. Mitotic figures were absent. Immunohistochemistry revealed that the tumor cells in all 3 CNS LGDIT-INI1 and 2 RT were negative for INI1. Genetically, total or partial homozygous deletions of the INI1 gene were detected in all CNS LGDIT-INI1 and RT excluding 1 CNS LGDIT-INI1 without sufficient DNA quality and quantity. Despite the loss of INI1 expression, these low-grade lesions were clearly distinguishable from AT/RT by their low proliferative activity, diffusely infiltrative growth pattern, and lack of rhabdoid cells and polyphenotypic immunoreactivity. In conclusion, CNS LGDIT-INI1 may represent a rare group of tumors that are clinically indolent but have a high propensity to progress to RT.
تدمد: 0147-5185
DOI: 10.1097/pas.0000000000001520
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edeb2c519cf7a601b69cb6e349261bf9
https://doi.org/10.1097/pas.0000000000001520
رقم الانضمام: edsair.doi.dedup.....edeb2c519cf7a601b69cb6e349261bf9
قاعدة البيانات: OpenAIRE
الوصف
تدمد:01475185
DOI:10.1097/pas.0000000000001520