Article
Chemistry, Multidisciplinary
Elena Porumb-Andrese, Ramona Gabriela Ursu, Iuliu Ivanov, Irina-Draga Caruntu, Vlad Porumb, Dan Ferariu, Costin Damian, Delia Ciobanu, Cristina Terinte, Luminita Smaranda Iancu
Summary: The study identified a high prevalence (60%) of BRAF V600E mutation in Romanian patients with primary cutaneous melanoma, with the mutation being associated with age, type of melanoma, and location on the body.
APPLIED SCIENCES-BASEL
(2021)
Article
Oncology
Walid Shalata, Rachel Steckbeck, Ilya Polishchuk, Ahron Yehonatan Cohen, Keren Rouvinov, Margarita Tokar, Ashraf Abu Jama, Omar Abu Saleh, Kim Sheva, Alexander Yakobson
Summary: This case report presents a patient with metastatic melanoma complicated by hyperbilirubinemia. The patient had BRAF V600E-mutated melanoma with metastases in various organs. Due to a lack of guidelines for treating melanoma patients with hyperbilirubinemia, a panel of specialists discussed between treatment initiation and supportive care. The patient eventually received combination therapy with dabrafenib and trametinib, resulting in a significant therapeutic and radiological response.
FRONTIERS IN ONCOLOGY
(2023)
Article
Oncology
Xavier Soria, Felip Vilardell, Oscar Maiques, Carla Barcelo, Pol Siso, Ines de la Rosa, Ana Velasco, Dolors Cuevas, Maria Santacana, Sonia Gatius, Xavier Matias-Guiu, Alberto Rodrigo, Anna Macia, Rosa M. M. Marti
Summary: The study suggests that variation in BRAF(V600E) mutant allele frequency may affect the location and metastasis of primary melanomas, as well as impact prognostic indicators. Patients with high variation in BRAF(V600E) MAF tend to have better prognostic features, such as lower Breslow and mitotic indexes and higher lymphocytic infiltrate.
Review
Oncology
Hiroyuki Takeda, Yu Sunakawa
Summary: BRAF mutations are an important poor prognostic factor in mCRC, but greater understanding of patient characteristics through genomic classification allows for more ideal treatment strategies.
FRONTIERS IN ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Mingguo Xie, Xiongfei Wang, Jiao Qiao, Jian Zhou, Yuguang Guan, Tianfu Li, Xueling Qi, Guoming Luan
Summary: The study evaluated the clinicopathological features and surgical prognosis of epilepsy-associated glioneuronal tumors (GNT) with CD34 expression and BRAF mutation. The results showed that CD34 expression or BRAF mutation in GNT was not associated with surgical outcomes of seizure control and tumor progression-free survival.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, Research & Experimental
Clemens Cammann, Jonas Kulla, Christian Walz, Fang Zhao, Theresa Lowinus, Eylin Topfstedt, Neha Mishra, Petra Henklein, Ursula Bommhardt, Lukas Bossaller, Christian Hagemeier, Dirk Schadendorf, Boris Schmidt, Annette Paschen, Ulrike Seifert
Summary: The combination of proteasome and Kv1.3 potassium channel inhibitors can inhibit the growth of BRAF-mutant melanoma cells and induce apoptosis. This combination therapy may serve as an alternative approach to treat other tumors expressing mutated BRAF.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Article
Multidisciplinary Sciences
Filipa Alves da Costa, Adriana Ramos, Catarina Bernardo, Fabio Cardoso Borges, Ana Costa Miranda
Summary: This is a population-based cohort study conducted in the South Region of Portugal to estimate the incidence of cutaneous malignant melanoma, characterize diagnosed individuals, describe treatment, and estimate survival outcomes. The study found a melanoma incidence rate of 13.36/100,000 inhabitants and a 3-year overall survival rate of 80.54%. The adjusted hazard ratio showed a two-fold increased risk of recurrence/death in the presence of ulcerated tumors.
SCIENTIFIC REPORTS
(2023)
Article
Medicine, General & Internal
Yun-Suk Choi, Seong-Woon Choi, Jin-Wook Yi
Summary: This study identified TERT promoter mutations in PTC and found that they are associated with more aggressive behavior. Patients with TERT promoter mutations were older, had larger tumors, and exhibited other adverse clinical features, resulting in a poorer prognosis compared to those with wild-type TERT gene status.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Guodong Fu, Ronald S. Chazen, Christina MacMillan, Ian J. Witterick
Summary: This diagnostic study developed a sensitive molecular assay for detection and quantification of BRAF V600E variation in residual tissue from thyroid FNA biopsies to identify patients with cancer harboring BRAF V600E in a cost-effective manner, highlighting the clinical value of molecular assay of the remaining FNA tissue in the management of thyroid nodules.
Article
Oncology
Youjia Tian, Jiang Zhou, Xinxin Chai, Zejun Ping, Yurong Zhao, Xin Xu, Chi Luo, Jinghao Sheng
Summary: In this study, the researchers found that TCF12 plays an oncogenic role in melanoma progression. They observed that TCF12 expression increases as melanoma progresses, and high expression is associated with poor survival outcomes in melanoma patients. Functionally, TCF12 enhances melanoma proliferation and metastasis, as well as sensitivity to BRAF(V600E)-targeted therapy. The researchers also identified TGFB2 as a direct downstream target of TCF12, mediating its pro-tumorigenic effects.
Article
Oncology
Emilie Hafliger, Alessandra Boccaccino, Alexandra Lapeyre-Prost, Audrey Perret, Claire Gallois, Maria Antista, Lorenzo Pilla, Thierry Lecomte, Mario Scartozzi, Emilie Soularue, Lisa Salvatore, Vincent Bourgeois, Massimiliano Salati, David Tougeron, Ludovic Evesque, Jean-Nicolas Vaillant, Reem El-Khoury, Sara Lonardi, Chiara Cremolini, Julien Taieb
Summary: The combination of anti-BRAF and anti-EGFRs shows efficacy in patients with BRAFm mCRC previously treated with an anti-EGFR agent. The results of this retrospective study suggest that this combination could be a valuable treatment option for patients with limited therapeutic alternatives.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Oncology
Jianing Jiang, Jinqi Gao, Gang Wang, Jinyan Lv, Wenting Chen, Jing Ben, Ruoyu Wang
Summary: This study reported the case of a NSCLC patient with lung papillary carcinoma BM harboring a BRAF(V600E) mutation, benefiting from dabrafenib combined with trametinib and remaining effective with vemurafenib following the development of the BRAF(S365L) mutation. Additionally, the study found that NGS of CSF ctDNA may provide more accurate information about intracranial lesions compared to ctDNA in blood serum, indicating a potentially better detection method.
FRONTIERS IN ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Mikhail Raevskiy, Maxim Sorokin, Uliana Vladimirova, Maria Suntsova, Victor Efimov, Andrew Garazha, Alexei Drobyshev, Aleksey Moisseev, Pavel Rumiantsev, Xinmin Li, Anton Buzdin
Summary: The mutations in EGFR, BRAF, PIK3CA, and KRAS genes can activate the EGFR pathway and affect gene expression patterns in various cancer types. RNA sequencing data can be used to identify the associations between these mutations and specific cancer types.
BIOCHEMISTRY-MOSCOW
(2021)
Article
Oncology
Maria Alessandra Calegari, Lisa Salvatore, Brunella Di Stefano, Michele Basso, Armando Orlandi, Alessandra Boccaccino, Fiorella Lombardo, Alessandra Auriemma, Ina Valeria Zurlo, Maria Bensi, Floriana Camarda, Marta Ribelli, Raffaella Vivolo, Alessandra Cocomazzi, Carmelo Pozzo, Michele Milella, Maurizio Martini, Emilio Bria, Giampaolo Tortora
Summary: The study compared patients with BRAF V600E and BRAF non-V600 metastatic colorectal cancers (mCRCs), finding that patients with BRAF non-V600 mutations had more favorable clinical characteristics and survival rates.
Article
Dermatology
Li Ni, Pin Li, Mingming Li, Shuhong Huang, Ningning Dang
Summary: This study characterized the function and interaction of ITGAX, SERPINB8, and furin in BRAF V600E mutant melanoma. It was found that SERPINB8 and furin regulate the expression of ITGAX, which significantly promotes the proliferation and invasion of melanoma cells.
EXPERIMENTAL DERMATOLOGY
(2023)
Review
Dermatology
Haider A. Mejbel, Kelly C. Nelson, Dinesh Pradhan, Doina Ivan, Michael Zaleski, Priyadharsini Nagarajan, Michael T. Tetzlaff, Jonathan L. Curry, Carlos A. Torres-Cabala, Victor G. Prieto, Phyu P. Aung
JOURNAL OF CUTANEOUS PATHOLOGY
(2020)
Article
Dermatology
Pelin Yildiz, Phyu P. Aung, Denai R. Milton, Chad Hruska, Doina Ivan, Priyadharsini Nagarajan, Michael T. Tetzlaff, Jonathan L. Curry, Carlos Torres-Cabala, Victor G. Prieto
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2020)
Article
Pathology
Priyadharsini Nagarajan, Jin Piao, Jing Ning, Laura E. Noordenbos, Jonathan L. Curry, Carlos A. Torres-Cabala, A. Hafeez Diwan, Doina Ivan, Phyu P. Aung, Merrick Ross, Richard E. Royal, Jennifer A. Wargo, Wei-Lien Wang, Rashmi Samdani, Alexander J. Lazar, Asif Rashid, Michael A. Davies, Victor G. Prieto, Jeffrey E. Gershenwald, Michael T. Tetzlaff
Article
Pathology
Carlos A. Torres-Cabala
Article
Dermatology
Maya Farah, Kelly C. Nelson, Michael T. Tetzlaff, Priyadharsini Nagarajan, Carlos A. Torres-Cabala, Victor G. Prieto, Jonathan L. Curry, Phyu P. Aung
JOURNAL OF CUTANEOUS PATHOLOGY
(2020)
Article
Dermatology
Pei-Ling Chen, Nastaran Neishaboori, Michael T. Tetzlaff, Wei-Shen Chen, Phyu P. Aung, Jonathan L. Curry, Priyadharsini Nagarajan, Doina Ivan, Wen-Jen Hwu, Victor G. Prieto, Carlos A. Torres-Cabala
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2020)
Article
Dermatology
DongHyang Kwon, Shira Ronen, Alessio Giubellino, Elizabeth Keiser, Phyu P. Aung, Priyadharsini Nagarajan, Michael T. Tetzlaff, Doina Ivan, Jonathan L. Curry, Victor G. Prieto, Carlos A. Torres-Cabala
Summary: Cutaneous carcinosarcomas are rare biphenotypic tumors with epithelial and mesenchymal differentiation. Immunohistochemical expression and RNA sequencing analysis can reveal gene mutations and alterations supporting the process of epithelial mesenchymal transition (EMT), which is a dynamic process by which tumors acquire mesenchymal phenotype while losing epithelial properties. Further investigation into EMT in cutaneous tumors of adnexal origin is needed for a better understanding of their pathogenesis and developing personalized therapies.
JOURNAL OF CUTANEOUS PATHOLOGY
(2021)
Review
Dermatology
Shira Ronen, Elizabeth Keiser, Katrina M. Collins, Phyu P. Aung, Priyadharsini Nagarajan, Michael T. Tetzlaff, Jonathan L. Curry, Doina Ivan, Victor G. Prieto, Sharon Hymes, L. Jeffrey Medeiros, Carlos A. Torres-Cabala
Summary: Langerhans cell sarcoma (LCS) is a rare and aggressive tumor with a low overall survival rate. This case presents a unique instance of LCS with epidermotropism, emphasizing the importance of immunophenotyping in diagnosis. Early recognition is crucial in LCS cases due to the tendency for recurrence and metastasis.
JOURNAL OF CUTANEOUS PATHOLOGY
(2021)
Article
Pathology
Haider A. Mejbel, Carlos A. Torres-Cabala, Denai R. Milton, Doina Ivan, Laurence Feldmeyer, Kenjiro Namikawa, Priyadharsini Nagarajan, Michael T. Tetzlaff, Jonathan L. Curry, Merrick Ross, Wen-Jen Hwu, Victor G. Prieto, Phyu P. Aung
Summary: Acral lentiginous melanoma (ALM) is a rare type of cutaneous melanoma with poor prognosis. ALM patients showed significantly lower survival rates at every pathologic stage compared with non-ALM patients. Factors associated with poor prognosis in ALM patients include histologic type, SLN positivity, age, and the use of systemic therapy.
Article
Ophthalmology
Bennett Yau-Bun Hong, Joshua R. Ford, Isabella C. Glitza, Carlos A. Torres Cabala, Michael Tetzlaff, Victor G. Prieto, Richard Parker, Claire Daniel, Bita Esmaeli
Summary: Two patients with locally advanced conjunctival melanoma were successfully treated with immune checkpoint inhibitor therapy, avoiding the need for radical surgery and preserving eye function in both cases.
OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY
(2021)
Article
Pathology
Di Ai, Jun Yao, Fei Yang, Lei Huo, Hui Chen, Wei Lu, Luisa Maren Solis Soto, Mei Jiang, Maria Gabriela Raso, Shufang Wang, Diana Bell, Jinsong Liu, Huamin Wang, Dongfeng Tan, Carlos Torres-Cabala, Qiong Gan, Yun Wu, Constance Albarracin, Mien-Chie Hung, Funda Meric-Bernstam, Ignacio I. Wistuba, Victor G. Prieto, Aysegul A. Sahin, Qingqing Ding
Summary: Currently, there is no highly specific and sensitive marker for breast cancer, leading researchers to investigate TRPS1 as a potential marker. The study found that TRPS1 is highly expressed in all subtypes of breast carcinoma and may serve as a valuable diagnostic tool, particularly for TNBC. Additionally, TRPS1 showed little to no expression in other solid tumor types, highlighting its potential specificity for breast carcinoma.
Article
Dermatology
Keith J. Sweeney, Michael T. Tetzlaff, Francisco Vega, Ann Gillenwater, Zhuang Zuo, Neil Gross, Priyadharsini Nagarajan, Jennifer Wargo, Kelly Nelson, Victor G. Prieto, Carlos A. Torres-Cabala, Jonathan L. Curry
Summary: The development of immune checkpoint inhibitor therapy has shifted the paradigm in cancer treatment, with neoadjuvant ICI therapy followed by surgery becoming the standard of care for several advanced-stage cancers. The pathology associated with ICI therapy includes tissue reactions, activation of TLSs, and off-target immune-related adverse events, with clonal expansion of B-cells in TLSs during neoadjuvant therapy being a critical factor in recognizing the response to ICI therapy.
JOURNAL OF CUTANEOUS PATHOLOGY
(2021)
Article
Pathology
Katrina Collins, Jun Gu, Phyu P. Aung, Priyadharsini Nagarajan, Jonathan L. Curry, Auris Huen, Doina Ivan, Victor G. Prieto, Michael T. Tetzlaff, Madeleine Duvic, Roberto N. Miranda, Francisco Vega, Carlos A. Torres-Cabala
Summary: This study found that GATA3 might be a useful immunohistochemical marker in distinguishing between Mycosis fungoides with large cell transformation (MFLCT) and primary cutaneous CD30+ T cell lymphoproliferative disorders (PC CD30+ LPD).
Article
Oncology
Carolina Mantilla-Rojas, Fred C. Velasquez, Janelle E. Morton, Leticia C. Clemente, Edwin R. Parra, Carlos Torres-Cabala, Eva M. Sevick-Muraca
Summary: This study demonstrates that combining vaccination and checkpoint blockade immunotherapy delivered through the lymphatics can improve anti-tumor responses in non-immunogenic melanoma models. This method may potentially benefit more patients by directing immune responses within the regional lymph node environment.
Editorial Material
Oncology
Alessio Giubellino, Carlos Torres-Cabala