Review
Cell Biology
Thibault Kervarrec, Daniel Pissaloux, Franck Tirode, Arnaud de la Fouchardiere, Pierre Sohier, Eric Frouin, Aymeric Hamard, Roland Houben, David Schrama, Anne Barlier, Bernard Cribier, Maxime Battistella, Nicolas Macagno
Summary: This article reviews the clinical, morphological, and molecular features of the benign sweat gland tumor poroma and its malignant counterpart porocarcinoma, and discusses the impact of their systematic molecular characterization on diagnosis, classification, prognosis, and therapeutic modalities.
Review
Oncology
Anja C. Roden
Summary: This article discusses the molecular aberrations in thymic epithelial tumors, specifically gene fusions, and explores their potential impact on diagnosis, tumor pathogenesis, and clinical treatment. Further research is needed to elucidate the molecular characteristics of these rare but aggressive tumors and optimize patient management and treatment.
Article
Dermatology
Yasuhiro Mitsui, Kohei Ogawa, Keisuke Goto, Tomomi Fujii, Yuki Nakamura-Nishimura, Kumi Mashiba, Hideo Asada
Summary: Poromatosis is a rare condition characterized by the development of multiple poromas, mainly found in patients with a history of malignancy. Recent studies have identified frequent YAP1::MAML2 and YAP1::NUTM1 fusions in poromas and porocarcinomas. This study presents two additional cases of poromatosis with YAP1::MAML2 fusions.
JOURNAL OF CUTANEOUS PATHOLOGY
(2023)
Article
Dermatology
Justin T. Snow, Natalia Georgantzoglou, Donald C. Green, Ourania Parra, Robert E. LeBlanc, Shaofeng Yan, Aravindhan Sriharan, Shabnam Momtahen, Kimberley N. Winnick, Emmanouil Dimonitsas, Spiros Stavrianos, Eleftheria Lakiotaki, Penelope Korkolopoulou, Kyriakos Revelos, Ruifeng Guo, Konstantinos Linos
Summary: This study identified the potential new NUTM1 fusion partners in NUT IHC-positive poromas and porocarcinomas. YAP1-NUTM1 fusion was found to be the most common, while WWTR1-NUTM1 fusion was rare. These findings further support the use of NUT IHC in diagnosing a subset of poroid neoplasms.
JOURNAL OF CUTANEOUS PATHOLOGY
(2022)
Article
Cell Biology
Thibault Kervarrec, Eric Frouin, Christine Collin, Anne Tallet, Matthias Tallegas, Daniel Pissaloux, Franck Tirode, Serge Guyetant, Mahtab Samimi, Pauline Gaboriaud, Antoine Touze, David Schrama, Roland Houben, Flore Tabareau-Delalande, Anne Neuhart, Arnaud de la Fouchardiere, Amelie Osio, Benedicte Cavelier-Balloy, Sara Laurent-Roussel, Pierre Sohier, Tilmant Cyprien, Brigitte Balme, Fanny Belzung, Marie-Laure Jullie, Bernard Cribier, Maxime Battistella, Nicolas Macagno
Summary: Recent research has shown the presence of YAP1 fusion genes in eccrine poroma and porocarcinoma. The use of YAP1 immunohistochemistry for diagnosis has been emphasized. The study aimed to evaluate the performance of YAP1 immunohistochemistry in the diagnosis of these tumors. The results showed that YAP1 expression was lost in a significant number of cases, and inactivation of RB1 was associated with transcriptional repression of YAP1.
Review
Dermatology
Ourania Parra, Darcy A. Kerr, Julia A. Bridge, Andrew P. Loehrer, Konstantinos Linos
Summary: Porocarcinoma is a rare malignant adnexal tumor that often occurs in older adults on the lower extremities and head and neck region. The clinical presentation, immunohistochemical profile, and differentiation of porocarcinoma can be diagnostically challenging due to their non-specific nature. Recent studies have shown highly recurrent YAP1 and NUTM1 gene rearrangements in cases of poroma and porocarcinoma, with emphasis on the clinical utility of the NUTM1 antibody.
JOURNAL OF CUTANEOUS PATHOLOGY
(2021)
Article
Dermatology
Isabel Kolm, Anastasia M. Konstantinova, Heinz Kutzner, Andre Barghorn, Tomas Vanecek, Joanna Mangana, Dmitry V. Kazakov
Summary: Cuticular poroma is a rare variant of poroma composed of predominantly or exclusively cuticular cells. We reported 7 cases of this tumor among 426 neoplasms diagnosed as poroma or porocarcinoma. The patients were 4 males and 3 females, with ages ranging from 18 to 88 years. All patients presented with a solitary asymptomatic nodule. The tumors were surgically removed and showed no evidence of disease in the follow-up period.
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2023)
Article
Dermatology
Philippa Li, Klaus J. Busam
Summary: Porocarcinoma is a rare sweat gland cancer that poses diagnostic challenges. Molecular studies can support the diagnosis. This case report describes a spindle cell variant of porocarcinoma in a female patient, and identifies a novel gene fusion through RNA sequencing.
JOURNAL OF CUTANEOUS PATHOLOGY
(2023)
Review
Dermatology
Jilse Joshy, Khaylen Mistry, Nick J. Levell, Birgitta van Bodegraven, Sally Vernon, Neil Rajan, Paul Craig, Zoe Claire Venables
Summary: The review provides a concise update on the history, pathogenesis, epidemiology, diagnosis, management, and prognosis of eccrine porocarcinoma. Diagnosis of this rare sweat gland neoplasm remains challenging due to its variable presentations and similar features to cutaneous squamous cell carcinoma. Further studies are needed to improve understanding and standardize protocols for this condition.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2022)
Article
Dermatology
Eleanor Russell-Goldman, Jason L. Hornick, John Hanna
Summary: YAP1 C-terminus and NUT immunohistochemistry play a crucial role in the diagnosis of porocarcinoma, with the combination of YAP1 C-terminus loss and NUT positivity being particularly informative.
JOURNAL OF CUTANEOUS PATHOLOGY
(2021)
Article
Cell Biology
Frank Szulzewsky, Sonali Arora, Aleena K. S. Arakaki, Philipp Sievers, Damian A. Almiron Bonnin, Patrick J. Paddison, Felix Sahm, Patrick J. Cimino, Taranjit S. Gujral, Eric C. Holland
Summary: The study investigates the role of YAP1-MAML2 gene fusion in the formation of meningioma and demonstrates that YAP1-MAML2 is a causal oncogenic driver in meningioma.
GENES & DEVELOPMENT
(2022)
Article
Medicine, General & Internal
Matteo Scampa, Rastine Merat, Daniel F. Kalbermatten, Carlo M. Oranges
Summary: Head and neck porocarcinoma is a rare tumor with male predominance. The incidence of distant metastasis is low, and surgery is the main treatment.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Pathology
Nicolas Macagno, Thibault Kervarrec, Pierre Sohier, Brigitte Poirot, Aurelie Haffner, Agnes Carlotti, Brigitte Balme, Christine Castillo, Marie-Laure Jullie, Amelie Osio, Jacqueline Lehmann-Che, Eric Frouin, Maxime Battistella
Summary: The study evaluated NUT immunohistochemical expression in a large cohort encompassing 835 cases of various cutaneous epithelial neoplasms, and found that NUT expression was specific to eccrine poromas and porocarcinoma, lacking in other cutaneous tumors, particularly more frequent in a distinct subgroup with poroid hidradenoma morphology. The presence of a YAP1-NUTM1 fusion transcript was confirmed in all NUT-positive neoplasms, indicating the diagnostic utility of nuclear NUT expression in specific subgroups of cutaneous adnexal neoplasms.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Article
Cell Biology
Xuan Wang, Lei-lei Liu, Qing Li, Qiu-yuan Xia, Rui Li, Sheng-bing Ye, Ru-song Zhang, Ru Fang, Hui Chen, Nan Wu, Qiu Rao
Summary: The study aimed to validate YAP1 C-terminal immunohistochemistry as an ancillary marker for the diagnosis of metaplastic thymoma. Through various molecular analyses, YAP1::MAML2 fusion genes were detected in all cases, confirming their association with metaplastic thymoma. Loss of YAP1 C-terminus expression was found to be a reliable indicator of YAP1::MAML2 fusions in metaplastic thymoma.
Article
Pathology
Abbas Agaimy, Robert Stoehr, Michael Michal, Petros Christopoulos, Hauke Winter, Lei Zhang, Albrecht Stenzinger, Michal Michal, Gunhild Mechtersheimer, Cristina R. Antonescu
Summary: Clear cell (hemangioblastoma-like) stromal tumor of the lung (CCST-L) is a recently described rare pulmonary neoplasm, potentially driven by YAP1-TFE3 fusion. These tumors exhibit unique histological features and further large series studies are needed to elucidate their biological behavior.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Article
Oncology
Kaishi Satomi, Makoto Ohno, Takashi Kubo, Mai Honda-Kitahara, Yuko Matsushita, Koichi Ichimura, Yoshitaka Narita, Hitoshi Ichikawa, Akihiko Yoshida
Summary: ATXN1::DUX4 is a recurrent alternative molecular event in sarcoma type defined by CIC rearrangement, sharing similar phenotype and DNA methylation profile, suggesting an expansion of tumor concept.
GENES CHROMOSOMES & CANCER
(2022)
Article
Biochemistry & Molecular Biology
Masayuki Komatsu, Hitoshi Ichikawa, Fumiko Chiwaki, Hiromi Sakamoto, Rie Komatsuzaki, Makoto Asaumi, Kazuhisa Tsunoyama, Takeo Fukagawa, Hiromichi Matsushita, Narikazu Boku, Keisuke Matsusaki, Fumitaka Takeshita, Teruhiko Yoshida, Hiroki Sasaki
Summary: Frequent gene fusions of ARHGAP6/ARHGAP26 are found in peritoneally-metastasized gastric and pancreatic cancer, leading to downregulation of RhoA-ROCK-MLC2 signaling and cell death. The findings suggest the tumor-suppressive nature of ARHGAP-RhoA signaling and may provide a new avenue for drug discovery against this refractory cancer.
Article
Oncology
Tetsuya Sekita, Akihiko Yoshida, Akira Kawai, Hitoshi Ichikawa, Eisuke Kobayashi
Summary: Dedifferentiated chondrosarcoma is a rare subtype of sarcoma that presents diagnostic challenges and can be easily confused with other diseases. This study used genomic analysis to determine the origin of the lesions and provided a diagnostic method for dedifferentiated chondrosarcoma lacking specific gene mutations.
GENES CHROMOSOMES & CANCER
(2023)
Article
Oncology
Takafumi Koyama, Toshio Shimizu, Yuki Kojima, Kazuki Sudo, Hitomi Sumiyoshi Okuma, Tatsunori Shimoi, Hitoshi Ichikawa, Shinji Kohsaka, Ryo Sadachi, Akihiro Hirakawa, Akihiko Yoshida, Reiko Makihara Ando, Toshihide Ueno, Mitsuru Yanagaki, Naoko Matsui, Kenichi Nakamura, Noboru Yamamoto, Kan Yonemori
Summary: Intimal sarcoma is a rare and life-threatening cancer, with most cases exhibiting MDM2 amplification. This study found that the MDM2 inhibitor, Milademetan, showed potential clinical benefits in patients with MDM2-amplified intimal sarcoma. The use of biomarkers such as TWIST1 amplification and CDKN2A loss, as well as sequential liquid biopsy of TP53, could help optimize treatment outcomes.