Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Rhabdoid Tumor Predisposition Syndrome"'
Autor:
John A. Vu, Whitney S. Thompson, Denise B. Klinkner, Asma Chattha, Myra Wick, Ellen J. Case, Christopher Collura, Amanika Kumar
Publikováno v:
Gynecologic Oncology Reports, Vol 49, Iss , Pp 101261- (2023)
Loss of heterozygosity in the SMARCA4 gene is a hallmark feature of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), an aggressive ovarian cancer occurring in young adults and adolescents with an average age of 23 years and a median su
Externí odkaz:
https://doaj.org/article/89d3e62dadfb4c018b8f32a0a14d8356
Autor:
Tomoyasu Higashimoto, Christy Haakonsen Smith, Mark R. Hopkins, John Gross, Deyin Xing, Jae W. Lee, Traevia Morris, Joann Bodurtha
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract Background Ovarian sex cord‐stromal tumors (OSCTs) are rare ovarian tumors that can develop from sex cord, stromal cells, or both. OSCTs can be benign or malignant. Bilateral and/or unilateral ovarian fibromas, a type of OSCT of the stroma
Externí odkaz:
https://doaj.org/article/3a148da568804f30999342c133c5df6b
Autor:
Miguel Berger-Saunderson, Emilio J. Cordova, Alfonso Pérez-Bañuelos, Vanesa Peralta-Velázquez, Atzin A Angeles-Romero, Augusto Sanchez, Lourdes Vega-Vega, Gabriela Escamilla-Asiain, Carmen Esmer
Publikováno v:
Current Problems in Cancer: Case Reports, Vol 4, Iss , Pp 100122- (2021)
Atypical teratoid rhabdoid tumors comprise 2%–3% of central nervous system tumors in children; over 90% occur before 3 years of age. It is classified as a grade IV tumor according to the World Health Organization. Herein we present the diagnostic c
Externí odkaz:
https://doaj.org/article/1be56a404882410b922a243fe9a2bf15
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Akademický článek
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Publikováno v:
Pediatric and Developmental Pathology. 24:164-168
Rhabdoid tumor predisposition syndrome (RTPS) is defined as the presence of a SMARCB1 or SMARCA4 genetic aberration in a patient with malignant rhabdoid tumor. Patients with RTPS are more likely to present with synchronous or metachronous rhabdoid tu
Autor:
Hiroko Fukushima, Junichi Hara, Kai Yamasaki, Naomi Ishii, Yasuhiro Matsusaka, Takeshi Inoue, Takahiro Okuno, Hiroyuki Fujisaki, Miho Sakaida, Nozomi Tsujio, Keiko Okada, Akihiro Yoneda, Hiroaki Sakamoto
Publikováno v:
Pathology International. 71:155-160
We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2-year-old boy underwent gross total resection of a brain tumor located in
Publikováno v:
Annales de Pathologie. 40:85-94
About 23% of adnexal tumors are related to a hereditary syndrome, most often hereditary breast and ovarian cancer syndrome or Lynch syndrome, responsible of epithelial tumors. However, the pathologist should be aware of rare hereditary syndromes resp
Autor:
Takafumi Watanabe, Shu Soeda, Yuta Endo, Chikako Okabe, Tetsu Sato, Norihito Kamo, Makiko Ueda, Manabu Kojima, Shigenori Furukawa, Hidekazu Nishigori, Toshifumi Takahashi, Keiya Fujimori
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 1563, p 1563 (2022)
Hereditary cancer syndromes, which are characterized by onset at an early age and an increased risk of developing certain tumors, are caused by germline pathogenic variants in tumor suppressor genes and are mostly inherited in an autosomal dominant m