Article
Oncology
Clara So, Tatsuya Yoshida, Takaaki Mizuno, Yasushi Yatabe, Yuichiro Ohe
Summary: Malignant melanoma, an aggressive skin cancer originating from melanocytes, can present as pleural tumors resembling primary pleural tumors. Distinguishing between primary and secondary melanomas can be challenging.
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
Beatriz Sanchez-Sendra, Jose F. Gonzalez-Munoz, Silvia Perez-Deben, Carlos Monteagudo
Summary: This study found that BRAF mutations do not significantly affect the predictive ability of miR-125b, miR-200c, and miR-205. These three miRNAs can independently predict the clinical outcomes of patients with primary melanoma, regardless of BRAF mutational status.
Article
Biochemistry & Molecular Biology
Viktoria Koroknai, Istvan Szasz, Krisztina Jambor, Margit Balazs
Summary: This study investigated the gene expression patterns of cytokines and chemokine receptors in human melanoma cell lines. The results showed significant differential expression of these genes between cell lines originating from different subtypes of primary melanomas and those from melanoma metastases. The expression levels of certain receptor genes were positively correlated with invasive potential, while others were negatively correlated with BRAF(V600E) mutation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Josune Alonso-Maranon, Alberto Villanueva, Josep Maria Piulats, Maria Martinez-Iniesta, Laura Sole, Juan Martin-Liberal, Sonia Segura, Ramon M. Pujol, Mar Iglesias, Anna Bigas, Fernando Gallardo, Lluis Espinosa
Summary: Chemotherapy has limited efficacy in treating invasive malignant melanoma (MM), but combination treatments involving DNA-damaging agents and BRAF inhibitors can increase tumor cell death and impede MM regrowth after treatment cessation. Pharmacologic inhibition of BRAF impairs ATM and DDR activation in MM cells, leading to sustained DNA damage.
Review
Cell Biology
Darina Kohoutova, Dominic Worku, Hala Aziz, Julian Teare, Justin Weir, James Larkin
Summary: Malignant melanoma is the fifth most common cancer in the UK, and the most common to metastasize to the gastrointestinal tract, particularly the small bowel. Endoscopic options can provide precise diagnosis of GI involvement. Surgical resection can control symptoms and increase overall survival.
Article
Cell Biology
Luise Dunsche, Nikita Ivanisenko, Shamala Riemann, Sebastian Schindler, Stefan Beissert, Cristian Angeli, Stephanie Kreis, Mahvash Tavassoli, Inna Lavrik, Dagmar Kulms
Summary: Malignant melanoma is intrinsically chemoresistant, and only a small percentage of cases carry p53 mutations. A specific p53 mutation, E285K, was identified and found to disrupt the function of p53 and confer chemoresistance. Restoring wild-type p53 function or inhibiting AKT-driven survival pathways can re-sensitize cancer cells to chemotherapy, and inducing ferroptosis shows promise as a therapeutic approach for fighting malignant melanoma.
CELL DEATH & DISEASE
(2023)
Article
Nanoscience & Nanotechnology
Dexuan Xiao, Yanjing Li, Taoran Tian, Tianxu Zhang, Sirong Shi, Boyao Lu, Yang Gao, Xin Qin, Mei Zhang, Wei Wei, Yunfeng Lin
Summary: siRNA combined with tFNAs and AS1411 in nanostructures showed enhanced activity and cellular uptake efficiency in gene therapy. This study provides a novel strategy for gene silencing using DNA nanomaterials.
ACS APPLIED MATERIALS & INTERFACES
(2021)
Article
Oncology
Isabella A. J. van Duin, Sjoerd G. Elias, Alfonsus J. M. van den Eertwegh, Jan Willem B. de Groot, Willeke A. M. Blokx, Paul J. van Diest, Tim Leiner, Joost J. C. Verhoeff, Rik J. Verheijden, Olivier J. van Not, Maureen J. B. Aarts, Franchette W. P. J. van den Berkmortel, Christian U. Blank, John B. A. G. Haanen, Geke A. P. Hospers, Anna M. Kamphuis, Djura Piersma, Rozemarijn S. van Rijn, Astrid A. M. van Der Veldt, Gerard Vreugdenhil, Michel W. J. M. Wouters, Marion A. M. Stevense-den Boer, Marye J. Boers-Sonderen, Ellen Kapiteijn, Karijn P. M. Suijkerbuijk
Summary: Since the introduction of BRAF(/MEK) inhibition and immune checkpoint inhibition (ICI), the prognosis of advanced melanoma has greatly improved. We investigated the relationship between time to first distant recurrence (TFDR) and patient outcomes after systemic treatment for advanced melanoma. The results showed that patients with a longer TFDR have prolonged PFS and OS, regardless of the type of treatment they received.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Oncology
Hansheng Wang, Jun Cheng, Dan Li, Senyuan Luo, Xiao Wang, Yan Liu, Meifang Wang, Tao Ren
Summary: Primary lung malignant melanoma (PMML) is an extremely rare tumor with a poor prognosis. This study reports a case of PMML in a 72-year-old female patient who received targeted therapy based on genetic testing.
Review
Medicine, General & Internal
Rebecca M. Harsten, Rebecca Fisher, Nazar Al-Sanjari, Philip Idaewor, Abdalla Saad Abdalla Al-Zawi
Summary: Skin malignant melanoma is an aggressive neoplasm that arises from melanocytes and is responsible for 75% of skin cancer deaths. This case study involves a young female patient with a left breast mass, which was later found to be caused by multiple disease foci from an occult MM.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Review
Oncology
Gerardo Cazzato, Eliano Cascardi, Anna Colagrande, Teresa Lettini, Leonardo Resta, Cinzia Bizzoca, Francesca Arezzo, Vera Loizzi, Miriam Dellino, Gennaro Cormio, Nadia Casatta, Carmelo Lupo, Antonio Scillimati, Salvatore Scacco, Paola Parente, Lucia Lospalluti, Giuseppe Ingravallo
Summary: This article provides a systematic review of primary malignant melanoma of the esophagus (PMME) in terms of its history, epidemiology, treatment, and future research directions. PMME is an extremely rare form of esophageal cancer that has been subject to debate regarding its existence. Over time, more cases have been reported, increasing knowledge and paving the way for discussions on treatment. Currently, surgery remains the primary treatment approach, but new therapeutic strategies, such as nivolumab, are being explored. Future studies with large case series, including clinicopathological and molecular data, are needed to improve the outcome of PMME patients.
Article
Biochemistry & Molecular Biology
Lisa Elefanti, Carolina Zamuner, Paolo Del Fiore, Camilla Stagni, Stefania Pellegrini, Luigi Dall'Olmo, Alessio Fabozzi, Rebecca Senetta, Simone Ribero, Roberto Salmaso, Simone Mocellin, Franco Bassetto, Francesco Cavallin, Anna Lisa Tosi, Francesca Galuppini, Angelo Paolo Dei Tos, Chiara Menin, Rocco Cappellesso
Summary: Acral melanoma is a rare and aggressive subtype of melanoma, unrelated to UV radiation, with low mutation burden but frequent chromosomal rearrangements and gene amplifications. The most commonly mutated genes are BRAF, NRAS, and TP53, with some genetic alterations associated with histologic prognostic features.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Reiko Matsuzawa, Masahiro Morise, Ichidai Tanaka, Shunsaku Hayai, Yutaro Tamiya, Junji Koyama, Tetsunari Hase, Keiko Wakahara, Deoksu Kim, Yoshie Shimoyama, Naozumi Hashimoto
Summary: This article reports a case of amelanotic melanoma that was finally diagnosed on an autopsy. The case suggests the importance of differential diagnosis in patients with poorly differentiated lung tumors, and highlights the role of routine immunohistochemical staining in this diagnosis.
Review
Oncology
Konstantinos Christofyllakis, Claudia Pfoehler, Moritz Bewarder, Cornelia S. L. Mueller, Lorenz Thurner, Torben Rixecker, Thomas Vogt, Stephan Stilgenbauer, Krista Yordanova, Dominic Kaddu-Mulindwa
Summary: This study evaluated the efficacy and tolerability of adjuvant therapy options in completely resected high-risk malignant melanoma patients. Results showed that nivolumab/ipilimumab had the highest benefit in stage IV melanoma, while dabrafenib/trametinib performed well in stage III BRAF-mutant melanoma. The presence of a BRAF mutation had a favorable impact on RFS, and patient age did not influence treatment outcomes.
FRONTIERS IN ONCOLOGY
(2021)
Review
Oncology
Ioannis A. Voutsadakis
Summary: This article discusses predictive biomarkers for everolimus efficacy in breast cancer. Currently, no additional predictive biomarkers to guide therapeutic decisions for everolimus have been introduced, but promising biomarker leads have been suggested, including the expression of proteins in the mTOR pathway in ER positive, HER2 negative breast cancers.
JOURNAL OF ONCOLOGY PHARMACY PRACTICE
(2022)
Review
Medicine, General & Internal
Ioannis A. Voutsadakis
Summary: Breast cancer is influenced by nuclear receptors, including estrogen receptor, progesterone receptor, and androgen receptor. Non-steroid nuclear receptors, such as vitamin D receptor and thyroid receptors, also play a role in breast cancer pathophysiology. Thyroid hormones can affect breast cancer risk and cell survival through canonical receptors and additional membrane receptors. Understanding the implications of the thyroid axis in breast cancer is important for prognosis and treatment.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Oncology
Christopher Rosso, Ioannis A. Voutsadakis
Summary: Emerging data suggests that breast cancer patients with low HER2 expression may benefit from newer, more potent antibody-drug conjugates. This study analyzed the characteristics of HER2 low expressors and compared them with patients with no HER2 expression. The findings show that HER2 low expression is associated with less aggressive tumor characteristics and longer overall survival compared to HER2 negative patients.
CLINICAL BREAST CANCER
(2022)
Article
Oncology
Ioannis A. Voutsadakis
Summary: Colorectal cancer is a major contributor to cancer-related morbidity and mortality, and the majority of metastatic cases remain incurable. New therapies based on a better understanding of the disease's pathogenesis are needed. Mutations in the PIK3CA gene, which encodes the catalytic sub-unit of kinase PI3K, are commonly found in colorectal cancer cell lines and patient samples. Colorectal cancer cell lines with PIK3CA mutations tend to have specific characteristics, such as being diploid, having microsatellite instability, and a high tumor mutation burden. These mutated cell lines demonstrate variable sensitivity to PI3K inhibitors, and often have multiple concomitant mutations in the PI3K/AKT and KRAS/BRAF/MEK/ERK pathways, similar to what is observed in patient samples. The presence of PIK3CA mutations in colorectal cancer cell lines is associated with microsatellite instability and increased sensitivity to PI3K inhibitors.
Article
Medicine, General & Internal
Ioannis A. Voutsadakis
Summary: This study investigates ER-positive/HER2-negative or luminal breast cancers with high mutation numbers and compares them with cancers of the same subtype and low mutation numbers. The results show that breast cancers with high mutation numbers have a higher prevalence of certain genetic mutations and DNA damage response genes. However, the prognosis of these breast cancers is not significantly different compared to those with lower mutation counts. These findings provide information on the suitability of these cancers for immunotherapy and potential combination therapies.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Ioannis A. Voutsadakis
Summary: Alterations in the planar cell polarity (PCP) pathway genes can be observed in breast cancers, particularly in the basal subtype. Two breast cancer cell line models with amplifications in PCP genes display sensitivity to inhibitors of acyl-transferase porcupine, suggesting these inhibitors may be potential candidates for combination therapy in PCP-altered breast cancers.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Nutrition & Dietetics
Christopher Rosso, Nicolas Fera, Nirosha J. Murugan, Ioannis A. Voutsadakis
Summary: Vitamin D plays a crucial role in bone health and has tumor-modulating effects in breast cancer. However, the associations between vitamin D levels and breast cancer patient characteristics and sub-types remain controversial. This study found that vitamin D insufficiency is prevalent in breast cancer patients, especially in younger and obese patients. Vitamin D insufficiency is associated with aggressive characteristics of breast cancer, such as higher grade and estrogen receptor negativity.
JOURNAL OF DIETARY SUPPLEMENTS
(2023)
Article
Medicine, General & Internal
Ioannis A. Voutsadakis
Summary: Copy number alterations at 8p11.23 are common in squamous non-small cell lung carcinomas. Amplified genes in this region, such as NSD3, FGFR1, and LETM2, are putative oncogenic candidates. However, the expression of other genes in the amplified region is not significantly correlated with amplification. The overall survival and relapse-free survival of patients with 8p11.23 amplification are not affected.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Ioannis A. Voutsadakis
Summary: Breast cancer is a heterogeneous disease with various subtypes. The claudin-low subtype is associated with molecular alterations that contribute to a pro-metastatic phenotype. This study analyzed claudin-low breast cancer cases and compared them with cases without this phenotype. Significant differences in molecular alterations were found between these groups, which may have implications for targeted therapies and clinical trial design.
Article
Biochemistry & Molecular Biology
Ioannis A. Voutsadakis
Summary: Breast cancers are classified based on the expression of ER, PR, and HER2 receptors. Triple-negative breast cancers do not express these receptors and have molecular heterogeneity. Claudin-low phenotype is a subset of triple-negative breast cancers and is associated with EMT. The molecular landscape and epigenetic regulators differ between claudin-low and non-suppressed triple-negative breast cancers.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Review
Oncology
Ioannis A. Voutsadakis
Summary: Colorectal cancer is a common gastrointestinal neoplasm with limited systemic treatment options. Trifluridine/tipiracil in combination with bevacizumab has shown promising efficacy in metastatic colorectal cancer. This meta-analysis reports on the clinical practice outcomes of this combination therapy.
Review
Biochemistry & Molecular Biology
Ioannis A. Voutsadakis, Antonia Digklia
Summary: Genes involved in the cellular response to DNA damage play a crucial role in protecting genetic information. In cancer cells, alterations in these genes lead to genetic instability, promoting cancer progression. Mutations in BRCA1 and BRCA2 genes are known to predispose individuals to certain types of cancer, and PARP inhibitors have been used to treat these cancers. However, the effectiveness of PARP inhibitors in pancreatic cancer with HR gene defects is still being studied. This paper reviews the prevalence of pancreatic cancers with HR gene defects and the potential treatment options.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Review
Medicine, General & Internal
Ioannis A. Voutsadakis
Summary: As the population of elderly cancer patients increases, the challenges of successful treatment also increase. Studies on colorectal cancer in patients older than 80 years old show that their characteristics are similar to younger patients, but they are more likely to have right colon cancers. Surgical treatment is feasible for selected patients over 80 years old, but adjuvant chemotherapy is under-utilized. Individualized standard treatments can optimize outcomes for colorectal cancer patients over the age of 80.
MEDICINA-LITHUANIA
(2023)
Article
Medicine, General & Internal
Ioannis A. Voutsadakis
Summary: This study examined the BRAF and PIK3CA mutations in colorectal cancer cell lines and found similarities in molecular characteristics and clinical alterations. Potential targets for treatment were discovered through vulnerabilities and dependencies identified in these cell lines.
MEDICINA-LITHUANIA
(2022)
Article
Oncology
Ioannis A. Voutsadakis
Summary: Bladder carcinomas with high tumor mutation burden (TMB) not only show increased sensitivity to immune checkpoint inhibitors, but also possess several molecular defects that could be targeted with combination therapies. These tumors have a higher prevalence of mutations in tumor suppressor genes TP53 and PIK3CA, FAT4 cadherin, as well as genes encoding for epigenetic modifier enzymes. The frequency of mutations in mismatch repair and DNA damage response genes is also higher in bladder carcinomas with high TMB. These tumors have a better prognosis compared to those with low TMB.
