Article
Oncology
Lilit Karapetyan, Xi Yang, Hong Wang, Cindy A. Sander, Ashley Moyer, Melissa Wilson, Arivarasan Karunamurthy, John M. Kirkwood
Summary: This study found a significant association between indoor tanning and multiple primary melanoma, with patients with multiple melanomas more likely to be younger and have additional risk factors. Subsequent melanomas tend to be thinner or in situ, and may occur in different anatomic locations.
Article
Multidisciplinary Sciences
Felipe Fidalgo, Giovana Tardin Torrezan, Bianca Costa Soares de Sa, Bruna Duraes de Figueiredo Barros, Luciana Facure Moredo, Renan Valieris, Sandro J. de Souza, Joao Pereira Duprat, Ana Cristina Victorino Krepischi, Dirce Maria Carraro
Summary: This study identified rare genomic variants associated with cutaneous melanoma susceptibility in melanoma-prone families. Several potential candidate genes were underscored, both previously described and new putative candidates. These findings provide a novel set of potential candidate genes for further investigation.
Article
Multidisciplinary Sciences
Xi Wu, Cong Huai, Lu Shen, Mo Li, Chao Yang, Juan Zhang, Luan Chen, Wenli Zhu, Lingzi Fan, Wei Zhou, Qinghe Xing, Lin He, Chunling Wan, Shengying Qin
Summary: The study found that patients with schizophrenia in Chinese families carried more duplications compared to healthy family members and controls, and identified new CNV loci associated with schizophrenia. Two genes within these CNVs showed significant relevance to schizophrenia, supporting the role of CNVs in schizophrenia etiology and providing new insights into the pathogenesis of schizophrenia.
Article
Oncology
Lilit Karapetyan, Xi Yang, Andrew D. Knight, Ziyu Huang, Hong Wang, Cindy A. Sander, Christopher P. Minnier, Melissa Wilson, Aofei Li, Arivarasan Karunamurthy, Walter J. Storkus, John M. Kirkwood
Summary: In this study, patients with multiple primary melanomas (MPMs) were found to have worse recurrence-free survival (RFS) and overall survival (OS) compared to patients with single primary melanomas (SPMs). Immunologic differences were also observed, including TIL content and expression of CXCL6/FOXJ1 in PBMCs of patients with MPMs, which warrant further investigation.
Article
Cell Biology
Emi Dika, Elisabetta Broseghini, Elisa Porcellini, Martina Lambertini, Mattia Riefolo, Giorgio Durante, Phillipe Loher, Roberta Roncarati, Cristian Bassi, Cosimo Misciali, Massimo Negrini, Isidore Rigoutsos, Eric Londin, Annalisa Patrizi, Manuela Ferracin
Summary: The study explored the miRNA profile of multiple primary melanomas (MPMs) and identified different miRNA expression patterns compared to single melanomas, focusing on the role of miRNA families in tumorigenesis and the importance of miRNA isoforms in melanoma development.
CELL DEATH & DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Mateusz Szylberg, Pawel Sokal, Paulina Sledzinska, Marek Bebyn, Stanislaw Krajewski, Lukasz Szylberg, Aneta Szylberg, Tadeusz Szylberg, Kamil Krystkiewicz, Marcin Birski, Marek Harat, Robert Wlodarski, Jacek Furtak
Summary: This study evaluated the impact of MGMT promoter methylation on the survival rate of patients with primary glioblastoma and found that patients with methylation had a longer median survival, indicating that MGMT promoter methylation is an important prognostic marker.
Article
Dermatology
S. Ravichandran, P. Funchain, J. Arbesman
Summary: Although melanomas in individuals with albinism are rare, they have distinct characteristics compared to melanomas in the general population, such as late age of diagnosis, different histologic subtypes, and depths.
ARCHIVES OF DERMATOLOGICAL RESEARCH
(2023)
Article
Oncology
Hildur Helgadottir, Karolin Isaksson, Ildiko Fritz, Christian Ingvar, Jan Lapins, Veronica Hoiom, Julia Newton-Bishop, Hakan Olsson
Summary: This study reports a continuous increase in the incidence of subsequent primary melanoma over the past 5 decades, with a steady increase in frequency, incidence rates, and standardized incidence ratios. This rise was independent of age, sex, invasiveness, or site of the melanoma. Additionally, the frequency of patients diagnosed with more than 2 melanomas also significantly increased over the years.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2021)
Article
Public, Environmental & Occupational Health
Stefano Guzzinati, Alessandra Buja, Giulia Grotto, Manuel Zorzi, Mariagiovanna Manfredi, Eleonora Bovo, Paolo Del Fiore, Saveria Tropea, Luigi Dall'Olmo, Carlo R. Rossi, Simone Mocellin, Massimo Rugge
Summary: This population-based study found that long-term survivors of cutaneous malignant melanoma (CMM) have a higher risk of synchronous and metachronous cancers, and the risk differs by sex. Male CMM survivors have a higher risk of metachronous thyroid and prostate cancers, while female survivors have a higher risk of metachronous cancers in the first 5 years after CMM diagnosis. These findings suggest the need for sex-tailored interventions for secondary cancer prevention.
FRONTIERS IN PUBLIC HEALTH
(2023)
Article
Genetics & Heredity
Hwei Wuen Chan, Elena R. Schiff, Vijay K. Tailor, Samantha Malka, Magella M. Neveu, Maria Theodorou, Mariya Moosajee
Summary: Albinism is a group of genetic disorders affecting pigmentation in skin, hair, and eyes, associated with multiple genes. During the study, 44 patients from diverse ethnic backgrounds underwent clinical and genetic testing, revealing partial correlation with inherited mutations.
Article
Oncology
Xi Yang, Lilit Karapetyan, Ziyu Huang, Andrew D. Knight, Sneha Rajendran, Cindy Sander, Christopher P. Minnier, Melissa J. Wilson, John M. Kirkwood
Summary: Patients with multiple primary melanoma (MPM) have a higher prevalence of nonmelanoma skin cancers and prostate cancer in both personal and first-degree relatives.
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
Oncology
Liming Huang, Wenshen Xu, Danfang Yan, Xi Shi, Xin You, Jiaqi Xu, Pingping You, Yuanyuan Ke, Lian Dai
Summary: The study shows that an insertion variant of MGMT rs10659396 confers susceptibility to glioma by downregulating MGMT expression through disrupting a STAT1 binding site.
CANCER CELL INTERNATIONAL
(2021)
Article
Psychology, Clinical
Richard A. Aborisade
Summary: The study revealed the prejudice and violence faced by children with albinism in family context in Nigeria. Family members' perceptions of CWA were influenced by social and religious inclinations, resulting in denial of education and social interactions for CWA. Children with albinism utilized various emotion-oriented coping strategies to deal with challenges in their family environment.
JOURNAL OF FAMILY VIOLENCE
(2021)
Article
Dermatology
Ellie J. Maas, Courtney K. Wallingford, Jessica J. McGuire, Chantal Rutjes, Darren J. Smit, Brigid Betz-Stablein, Richard A. Sturm, H. Peter Soyer, Aideen M. McInerney-Leo
Summary: Two sisters with primary amelanotic/hypopigmented melanoma underwent imaging analysis and genetic sequencing. The analysis showed signs of oculocutaneous albinism (OCA) in both sisters, while their brother only had OCA without melanoma. Genetic data revealed TYR gene mutations associated with OCA and a rare PARP1 gene variant potentially related to melanoma development.
JOURNAL OF DERMATOLOGY
(2022)
Letter
Dermatology
I. Stefanaki, A. J. Stratigos, K. P. Kypreou, E. Evangelou, S. Gandini, P. Maisonneuve, D. Polsky, D. Lazovich, J. Newton-Bishop, P. A. Kanetsky, S. Puig, N. A. Gruis, P. Ghiorzo, C. Pellegrini, A. De Nicolo, G. Ribas, G. Guida, J. C. Garcia-Borron, M. C. Fargnoli, H. Nan, M. T. Landi, J. Little, F. Sera, S. Raimondi
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2021)
Article
Oncology
Katia Danza, Letizia Porcelli, Simona De Summa, Roberta Di Fonte, Brunella Pilato, Rosanna Lacalamita, Simona Serrati, Amalia Azzariti, Stefania Tommasi
Summary: ERRα plays a role in the proliferation of breast cancer cell lines and as a regulator of the VDR pathway, affecting cell cycle arrest and regulating gene expression. In breast cancer, overexpression of VDR, CYP24A1, and ERRα is associated with poor prognosis.
MOLECULAR ONCOLOGY
(2022)
Review
Dermatology
Stefania Guida, Gabriella Guida, Colin Ronald Goding
Summary: This paper reviews the function of MC1R and highlights its expression in melanocytes, granulocytes, and the brain. It plays important roles in human skin pigmentation and UV-induced DNA damage repair.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Article
Dermatology
C. Pellegrini, S. Raimondi, L. Di Nardo, P. Ghiorzo, C. Menin, M. A. Manganoni, G. Palmieri, G. Guida, P. Quaglino, I. Stanganelli, D. Massi, L. Pastorino, L. Elefanti, G. Tosti, P. Queirolo, A. Leva, A. Maurichi, M. Rodolfo, M. C. Fargnoli
Summary: The study analyzed major high and intermediate melanoma risk genes in a large multicentre cohort of Italian children and adolescents. Results showed most patients carried MC1R variants, while CDKN2A pathogenic variants were found in 9% of cases. Children under 12 years old more frequently presented Spitzoid histotype, with melanoma located on the head/neck and upper limbs and higher Breslow thickness.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Simona Serrati, Michele Guida, Roberta Di Fonte, Simona De Summa, Sabino Strippoli, Rosa Maria Iacobazzi, Alessandra Quarta, Ivana De Risi, Gabriella Guida, Angelo Paradiso, Letizia Porcelli, Amalia Azzariti
Summary: This study identified circulating PD1(+) EVs as a driver of resistance to anti-PD1 therapy in metastatic melanoma patients. The analysis of single EV populations by liquid biopsy is a promising tool for stratifying patients for immunotherapy.
Article
Medicine, Research & Experimental
Michele Guida, Nicola Bartolomeo, Davide Quaresmini, Pietro Quaglino, Gabriele Madonna, Jacopo Pigozzo, Anna Maria Di Giacomo, Alessandro Marco Minisini, Marco Tucci, Francesco Spagnolo, Marcella Occelli, Laura Ridolfi, Paola Queirolo, Ivana De Risi, Monica Valente, Angela Monica Sciacovelli, Vanna Chiarion Sileni, Paolo Antonio Ascierto, Lucia Stigliano, Sabino Strippoli
Summary: This study aimed to evaluate the predictive capability of baseline and early variations of different blood cells and their ratios in metastatic melanoma patients treated with immune checkpoint inhibitors. The study found that higher baseline neutrophils and neutrophil-to-lymphocyte ratio were negatively correlated with clinical outcomes. Early variations of blood cells also predicted treatment efficacy. These findings propose simple and inexpensive biomarkers for better patient selection.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Article
Medicine, General & Internal
Annamaria Catino, Rosanna Lacalamita, Simona De Summa, Francesco Pesola, Stefania Tommasi, Domenico Galetta
Summary: This case highlights the importance of reassessing the biomolecular profile during the disease course to improve the understanding of resistance mechanisms and identify new drugs that can optimize patient management.
Article
Health Care Sciences & Services
Miriam Dellino, Eliano Cascardi, Valentina Tomasone, Rosanna Zaccaro, Katia Maggipinto, Maria Elena Giacomino, Miriana De Nicolo, Simona De Summa, Gerardo Cazzato, Salvatore Scacco, Antonio Malvasi, Vincenzo Pinto, Ettore Cicinelli, Carmine Carriero, Giovanni Di Vagno, Gennaro Cormio, Chiara Antonia Genco
Summary: HPV infection is highly prevalent in younger individuals and is associated with neoplastic risks. This survey highlights the need for improved patient communication and support, leading to organizational changes in counseling and training. The survey serves as a foundation for further discussions on appropriate communication in the oncological context.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Cell Biology
Lucia Cappabianca, Veronica Zelli, Cristina Pellegrini, Michela Sebastiano, Rita Maccarone, Marco Clementi, Alessandro Chiominto, Pierdomenico Ruggeri, Ludovica Cardelli, Marianna Ruggieri, Maddalena Sbaffone, Maria-Concetta Fargnoli, Stefano Guadagni, Antonietta R. Farina, Andrew R. Mackay
Summary: This study suggests that a variant form of TrkA, TrkAIII, is associated with the growth and development of cutaneous malignant melanoma (CMM). TrkAIII has higher expression frequency and stronger tumor-suppressing properties compared to the non-variant TrkA. It is also found that reductive stress promotes the expression of TrkAIII and enhances the resistance of cancer cells to this stress, providing insights for potential therapeutic targets in CMM.
Article
Oncology
Valeria Interno, Maria Chiara Sergi, Maria Elvira Metta, Michele Guida, Paolo Trerotoli, Sabino Strippoli, Salvatore Circelli, Camillo Porta, Marco Tucci
Summary: This study retrospectively analyzed the impact of clinical-pathological features and multimodal therapies on the overall survival of patients with melanoma brain metastases. The results showed that encephalic radiotherapy significantly improved survival, but not for patients with LDH levels higher than two times the upper limit normal. These findings can help guide therapeutic strategies for patients in the worst prognostic subgroup of melanoma brain metastases.
Article
Medicine, General & Internal
Paolo Bironzo, Francesco Pepe, Gianluca Russo, Pasquale Pisapia, Gianluca Gragnano, Gabriella Aquino, Silvia Bessi, Simonetta Buglioni, Federico Bartoccini, Giuseppina Ferrero, Michela Anna Bresciani, Paola Francia di Celle, Francesca Sibona, Andrea Giusti, Alessandra Movilia, Renata Mariella Farioli, Alessandra Santoro, Domenico Salemi, Stefania Scarpino, Dino Galafate, Stefania Tommasi, Rosanna Lacalamita, Davide Seminati, Elham Sajjadi, Silvia Novello, Fabio Pagni, Giancarlo Troncone, Umberto Malapelle
Summary: Lung cancer is the leading cause of cancer deaths worldwide. The molecular analysis of MET proto-oncogene, receptor tyrosine kinase (MET) exon 14 skipping has been promoted for the stratification of non-small cell lung cancer (NSCLC) patients. Different testing strategies for MET exon 14 skipping were evaluated for their technical performance and reproducibility in various centers. The use of artificial reference slides proved to be a valid tool for harmonizing technical workflows in the evaluation of MET exon 14 skipping molecular alterations in routine practice.
Article
Biotechnology & Applied Microbiology
Nicola Altini, Emilia Puro, Maria Giovanna Taccogna, Francescomaria Marino, Simona De Summa, Concetta Saponaro, Eliseo Mattioli, Francesco Alfredo Zito, Vitoantonio Bevilacqua
Summary: In this study, an explainable computer-aided diagnosis system was developed to support pathologists in evaluating tumor cellularity in breast histopathological slides. By comparing an end-to-end deep learning approach with a two-stage pipeline, it was found that although the two-stage pipeline methods were slightly less accurate, the interpretability of their features was clearer, which may help build trust for pathologists to adopt AI-based CAD systems.
BIOENGINEERING-BASEL
(2023)
Article
Oncology
Simona Serrati, Roberta Di Fonte, Letizia Porcelli, Simona De Summa, Ivana De Risi, Livia Fucci, Eustachio Ruggieri, Tommaso Maria Marvulli, Sabino Strippoli, Rossella Fasano, Tania Rafaschieri, Gabriella Guida, Michele Guida, Amalia Azzariti
Summary: The concentrations of sPD1 and sPD-L1 did not correlate with anti-PD1 response, but tumor-derived PD1+ EVs decreased in long responders and increased in responders experiencing disease progression. EVs from non-responders and progression disease patients accelerated tumor cells invasiveness and migration towards macrophages, while EVs from long responders reduced the metastatic potential of MM cells and neo-angiogenesis.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2023)
Article
Biotechnology & Applied Microbiology
Nicola Altini, Antonio Brunetti, Emilia Puro, Maria Giovanna Taccogna, Concetta Saponaro, Francesco Alfredo Zito, Simona De Summa, Vitoantonio Bevilacqua
Summary: The study presents an innovative method based on gradient-weighted class activation mapping (Grad-CAM) saliency maps for nuclei segmentation in biomedical image analysis. The proposed method demonstrates superior performance in isolating different nuclei instances, with the ability to be generalized for various organs and tissues.
BIOENGINEERING-BASEL
(2022)