Article
Urology & Nephrology
Kristen M. Meier, Jenna Demedis, Michael Edwards, Nicholas G. Cost
Summary: This article presents a rare and aggressive case of extracranial malignant rhabdoid tumors (MRT) and discusses an overview of extracranial MRT tumor biology and treatment considerations.
Article
Cell Biology
Izumi Kinoshita, Kenichi Kohashi, Hidetaka Yamamoto, Yuichi Yamada, Takeshi Inoue, Koichi Higaki, Norihiro Teramoto, Yumi Oshiro, Yasuharu Nakashima, Yoshinao Oda
Summary: Complete loss of SMARCB1/INI1 in soft-tissue tumors is often associated with high-grade malignancy and poor prognosis. A novel subset named 'myxoepithelioid tumor with choroid features' (METC) was proposed, which represents an entity with intermediate malignancy that can be controlled with appropriate treatment.
Review
Oncology
Victor Ho-Fun Lee, Raymond King-Yin Tsang, Anthony Wing Ip Lo, Sum-Yin Chan, Joseph Chun-Kit Chung, Chi-Chung Tong, To-Wai Leung, Dora Lai-Wan Kwong
Summary: SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare and aggressive malignancy with poor survival outcomes. The optimal treatment strategy for this disease is yet to be determined. T4b disease at diagnosis was found to be the only prognostic factor of overall survival.
Article
Pathology
Yu-Ju Su, Yi-Hsuan Lee, Min-Shu Hsieh
Summary: SMARCB1(INI1)-deficient sinonasal carcinoma is a recently recognized entity with unique cytomorphology, providing a valuable tool for identification and classification in the diagnosis of this specific type of carcinoma.
PATHOLOGY INTERNATIONAL
(2022)
Article
Pathology
Christian Thomas, Aniello Federico, Martin Sill, Susanne Bens, Florian Oyen, Karolina Nemes, Pascal D. Johann, Christian Hartmann, Wolfgang Hartmann, David Sumerauer, Vincenzo Paterno, Amir Samii, Uwe Kordes, Reiner Siebert, Michael C. Fruhwald, Werner Paulus, Marcel Kool, Martin Hasselblatt
Summary: In this study, three cases of malignant central nervous system tumors in children were reported, all located in the temporal lobe. These tumors exhibited molecular features of PXA, including homozygous SMARCB1 region deletions and BRAF V600E mutations. Interestingly, DNA methylation analysis did not group these tumors with AT/RT, highlighting the importance of molecular characterization in identifying such cases.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Review
Oncology
Juri Fuchs, Anastasia Murtha-Lemekhova, Markus Kessler, Fabian Ruping, Patrick Guenther, Alexander Fichtner, Dominik Sturm, Katrin Hoffmann
Summary: Malignant rhabdoid tumors of the liver are rare pediatric liver tumors with a devastating prognosis. This study found that there is a large overlap between malignant rhabdoid liver tumors and small cell undifferentiated liver tumors, suggesting that they should be classified as one entity. Chemotherapy regimens initially used for soft tissue sarcoma were more effective in treating malignant rhabdoid tumors compared to hepatoblastoma-directed chemotherapy. Surgical tumor resection combined with intensive chemotherapy is the recommended treatment for these tumors.
Article
Clinical Neurology
Rajiv Pathak, Francesca Zin, Christian Thomas, Susanne Bens, Tenzin Gayden, Jason Karamchandani, Roy W. Dudley, Karolina Nemes, Pascal D. Johann, Florian Oyen, Uwe Kordes, Nada Jabado, Reiner Siebert, Werner Paulus, Marcel Kool, Michael C. Fruhwald, Steffen Albrecht, Ganjam V. Kalpana, Martin Hasselblatt
Summary: Mutations in the tumor suppressor gene SMARCB1 can lead to cytoplasmic localization of the SMARCB1 protein in certain tumors, impacting tumor suppressor function. Inhibiting the nuclear export of mutant SMARCB1 protein may be a potential targeted therapy in these cases.
ACTA NEUROPATHOLOGICA
(2021)
Article
Pathology
Inigo Espinosa, Emanuela D'Angelo, Louise De Brot, Jaime Prat
Summary: A study revealed that most extrarenal rhabdoid tumors of the vulva are proximal-type epithelioid sarcomas. By analyzing the clinicopathologic, immunohistochemical, and molecular features of these tumors, it was found that they have distinct expressions.
Review
Pathology
Ayako Ura, Tsuyoshi Saito, Toru Motoi, Tatsuya Takagi, Yoshiyuki Suehara, Taisei Kurihara, Kei Sano, Keita Sasa, Takuo Hayashi, Takashi Yao
Summary: Epithelioid sarcoma (EpS) is a rare malignant neoplasm, primarily found in soft tissues with bone involvement being extremely rare. A case of primary distal-type EpS of the lumbar vertebra is reported, with the patient developing lung and subcutaneous metastases post-surgery. The patient eventually died of the disease.
Article
Oncology
Laura Libera, Giorgia Ottini, Nora Sahnane, Fabiana Pettenon, Mario Turri-Zanoni, Alessia Lambertoni, Anna Maria Chiaravalli, Federico Leone, Paolo Battaglia, Paolo Castelnuovo, Silvia Uccella, Daniela Furlan, Carla Facco, Fausto Sessa
Summary: This study performed histopathological, immunohistochemical, and molecular analyses on PDSNCs, revealing a correlation between SWI/SNF complex and IDH2 defects and abnormal methylation levels, which were associated with a worse prognosis.
Article
Oncology
Yuki Yoshino, Hiroaki Goto, Mieko Ito, Yoshinori Tsurusaki, Junko Takita, Yasuhide Hayashi, Masakatsu Yanagimachi
Summary: In this study, effective therapeutic agents against SMARCB1/INI1-deficient tumors were explored using an in vitro drug screening system. It was found that YM155 and chrysin synergistically suppressed survivin expression and enhanced cytotoxicity.
Review
Pathology
Abbas Agaimy
Summary: The classification of poorly differentiated sinonasal carcinomas and their nonepithelial mimics has undergone significant advancements over the past few decades, allowing for a more refined molecular or etiology-based classification. One major highlight is the identification of subtypes of carcinomas driven by defects in the SWI/SNF chromatin remodeling complex. These developments have led to the definition of four new sinonasal entities driven by Switch/Sucrose nonfermentable complex deficiency.
ADVANCES IN ANATOMIC PATHOLOGY
(2023)
Article
Clinical Neurology
Marco Crocco, Marta Panciroli, Claudia Milanaccio, Cristina Morerio, Antonio Verrico, Maria Luisa Garre, Natascia Di Iorgi, Valeria Capra
Summary: AT/RTs in the rhabdoid tumor predisposition syndromes are most often caused by germline mutations of the SMARCB1 gene, but can also result from the constitutional ring chromosome 22. Individuals with r22 may show similar features as those with PMDS, but data on the therapeutic and prognostic implications of r22 in AT/RT and PMDS is limited.
FRONTIERS IN NEUROLOGY
(2021)
Article
Dermatology
Yiang Hui, Paolo Cotzia, Satshil Rana, Brie E. Kezlarian, Oscar Lin, Travis J. Hollmann, Snjezana Dogan
Summary: SMARCB1-deficient malignancies can occur in various sites, with a novel primary SMARCB1-deficient carcinoma of skin (SDCS) reported in this study. SMARCB1 mutations in non-melanoma skin cancers (NMSC) are rare, with most cases being of undetermined significance and associated with retained INI1 and UV-MS.
JOURNAL OF CUTANEOUS PATHOLOGY
(2021)
Article
Otorhinolaryngology
Kevin J. Contrera, Nasim Shakibai, Shirley Y. Su, Maria K. Gule-Monroe, Dianna Roberts, Bledi Brahimaj, Michelle D. Williams, Renata Ferrarotto, Jack Phan, Brandon Gunn, Shaan Raza, Franco DeMonte, Ehab Y. Hanna
Summary: The objective of this study was to report outcomes of 19 consecutive patients with SMARCB1 (INI-1)-deficient sinonasal carcinoma. Patients were treated from 2014 to 2021 and followed for a median of 22.3 months. The median overall survival (OS) and disease-free survival (DFS) were 31.8 and 9.9 months, respectively. Patients with nasal cavity or maxillary sinus tumors had significantly better disease-specific survival (DSS) and DFS compared to patients with other sinonasal sites. Additionally, induction chemotherapy was associated with a lower risk of disease-related death.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)