Article
Hematology
Joonhee Park, Jay Daniels, Tim Wartewig, Kimberly G. Ringbloom, Maria Estela Martinez-Escala, Sara Choi, Jane J. Thomas, Peter G. Doukas, Jingyi Yang, Caroline Snowden, Calvin Law, Yujin Lee, Katie Lee, Yancong Zhang, Carly Conran, Kyle Tegtmeyer, Samuel H. Mo, David R. Pease, Balaji Jothishankar, Pui-Yan Kwok, Farah R. Abdulla, Barbara Pro, Abner Louissaint, Titus J. Boggon, Jeffrey Sosman, Joan Guitart, Deepak Rao, Juergen Ruland, Jaehyuk Choi
Summary: The study identified 86 putative driver genes in CTCL, including 19 genes not previously implicated in the disease and two mutations never described in any cancer. Functional assays revealed that these mutations enhance T-cell receptor-dependent proliferation, highlighting their importance in lymphomagenesis. Investigations into genetic causes of CTCL heterogeneity found that while there are broad similarities across disease stages, there are significantly more structural variants in leukemic disease, leading to highly recurrent deletions of putative tumor suppressors.
Review
Pathology
Antonio Travaglino, Daniela Russo, Silvia Varricchio, Sara Pignatiello, Antonello Baldo, Marco Picardi, Fabrizio Pane, Massimo Mascolo
Summary: CD30 expression in transformed mycosis fungoides (tMF) is associated with a lower risk of death, with consistent findings across multiple studies.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY
(2021)
Article
Oncology
Pamela B. Allen, Ashley A. McCook-Veal, Jeffrey M. Switchenko, Darina M. Paulino, Tim Niyogusaba, Katelin M. Baird, Erica S. Tarabadkar, Mary Jo Lechowicz
Summary: The risk factors for progression to advanced-stage mycosis fungoides (MF) are not well-defined. This retrospective cohort study found that patients who progressed to advanced stage had an increased risk of death, higher overall stage at diagnosis, tumor stage, lymph node stage, low-level blood involvement (as measured with T-cell receptor gene rearrangement and/or flow cytometry), and elevated lactate dehydrogenase (LDH). Staging and baseline laboratory assessments may help identify patients with newly diagnosed MF who are at risk for progression.
Review
Medicine, Research & Experimental
Hicham Titou, Ahmed Bouhamidi
Summary: A retrospective study was conducted to evaluate the clinical profile and long-term outcomes of 114 Moroccan patients with mycosis fungoides. Results showed that most cases were diagnosed in early stages, indicating a favorable prognosis for these patients in Morocco.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)
Article
Dermatology
Josephine Franceschi, Marine Ehret, Laetitia Visseaux, Anne Durlach, Coralie Barbe, Eric Durot, Florent Grange
Summary: Aggressive primary cutaneous T-cell lymphomas consist of various subtypes with different prognoses. Advanced-stage mycosis fungoides has a relatively better prognosis, while Sezary syndrome and other subtypes have a poorer prognosis.
ACTA DERMATO-VENEREOLOGICA
(2022)
Article
Hematology
Nicholas Borcherding, Kevin J. Severson, Nicholas Henderson, Luana S. Ortolan, Allison C. Rosenthal, Andrew M. Bellizzi, Vincent Liu, Brian K. Link, Aaron R. Mangold, Ali Jabbari
Summary: Cutaneous T-cell lymphomas (CTCLs) are a group of diseases caused by skin-tropic T-cell proliferation. The course of the disease varies, with some patients having indolent progression while others experience aggressive progression and poor survival. S e ' zary syndrome (SS), a leukemic variant of CTCL, lacks consistent markers for diagnosis and treatment selection. A study using single-cell sequencing identified distinct cell populations in SS and potential mechanisms of immune evasion.
Article
Medicine, General & Internal
Yuan Yuan, Weimin Ren, Jinchao Zhu, Saiyan Ji, Qingyuan Yang
Summary: Lymph node metastasis, perineural/venous invasion, TNM stage, local recurrence or distant metastasis after surgery, and the expression of Ki-67 and KRAS mutation are independent prognostic biomarkers for predicting the 2-year survival rate of CRC patients. These markers show differential prognosis in different subgroups based on age, tumor site, differentiation, histological type, lymph node metastasis, TNM stage, and recurrence/metastasis.
ANNALS OF MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Donatella Conconi, Serena Redaelli, Andrea Alberto Lissoni, Chiara Cilibrasi, Patrizia Perego, Eugenio Gautiero, Elena Sala, Mariachiara Paderno, Leda Dalpra, Fabio Landoni, Marialuisa Lavitrano, Gaia Roversi, Angela Bentivegna
Summary: The study analyzed the genomic and epigenomic profiles of uterine smooth muscle tumors, finding similarities between STUMPs and LMSs. Some genes with potential prognostic value, previously not associated with STUMP, were identified. Methylation data showed promise, especially in samples with divergent profiles, and Gene Ontology analysis highlighted cancer genes that may serve as prognostic markers in the future.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Carsten Hain, Rudolf Stadler, Joern Kalinowski
Summary: This study presents a workflow to enrich tumor cells and improve mutation detection in early stages of Mycosis fungoides. It also demonstrates the advantages of long-read sequencing for a more comprehensive understanding of genetic alterations in early stages of the disease.
Article
Biochemistry & Molecular Biology
Alessandra Ardizzoia, Andrea Jemma, Serena Redaelli, Marco Silva, Angela Bentivegna, Marialuisa Lavitrano, Donatella Conconi
Summary: The lack of effective screening and successful treatment contributes to high ovarian cancer mortality, making it the second most common cause of gynecologic cancer death. Development of chemoresistance in up to 75% of patients is the cause of a poor treatment response and reduced survival. Therefore, identifying potential and effective biomarkers for its diagnosis and prognosis is a strong critical need.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pathology
Lina Irshaid, Danielle C. Costigan, Fei Dong, Ursula A. Matulonis, Marisa R. Nucci, David L. Kolin
Summary: This study aimed to characterize the genetic landscape of Mullerian clear cell carcinoma (CCC) and correlate these findings with clinicopathologic features. The results showed that the genetic landscape of CCC is complex, with ARID1A and PIK3CA being the most frequently mutated genes. Furthermore, CCC can be classified into different molecular subgroups, which have different prognostic implications.
Article
Genetics & Heredity
Nicoletta Villa, Serena Redaelli, Stefania Farina, Donatella Conconi, Elena Maria Sala, Francesca Crosti, Silvana Mariani, Carla Maria Colombo, Leda Dalpra, Marialuisa Lavitrano, Angela Bentivegna, Gaia Roversi, Mario Ventura
Summary: Complex chromosomal rearrangements are rare events that can occur and be compatible with survival. They involve an imbalance and/or position effect of one or more genes, resulting in a variety of clinical presentations. Investigating and diagnosing these cases can be challenging. Understanding the pairing and segregation patterns of these chromosomes during meiosis is crucial for assessing the risk and type of imbalance in offspring.
Article
Hematology
Marta Rodriguez, Ruth Alonso-Alonso, Laura Tomas-Roca, Socorro M. Rodriguez-Pinilla, Rebeca Manso-Alonso, Laura Cereceda, Jennifer Borregon, Teresa Villaescusa, Raul Cordoba, Margarita Sanchez-Beato, Ismael Fernandez-Miranda, Isabel Betancor, Carmen Barcena, Juan F. Garcia, Manuela Mollejo, Monica Garcia-Cosio, Paloma Martin-Acosta, Fina Climent, Dolores Caballero, Lorena de la Fuente, Pablo Minguez, Linda Kessler, Catherine Scholz, Antonio Gualberto, Rufino Mondejar, Miguel A. Piris
Summary: This study analyzed cases of Peripheral T-cell lymphoma (PTCL) to identify specific gene sets associated with different histological types, supporting the division of PTCL into 3 categories and identifying B-cell gene expression as an independent prognostic factor for AITL. The study also highlighted the importance of mutational profiles, with differences in RHOA mutations among the PTCL classes.
Article
Biology
Chi-Keung Cheng, Yuk-Lin Yung, Hoi-Yun Chan, Kam-Tong Leung, Kathy Y. Y. Chan, Alex W. K. Leung, Frankie W. T. Cheng, Chi-Kong Li, Thomas S. K. Wan, Xi Luo, Herbert-Augustus Pitts, Joyce S. S. Cheung, Natalie P. H. Chan, Margaret H. L. Ng
Summary: A genomic analysis of pediatric acute myeloid leukemia patients reveals extensive gene fusion events and mutations, providing new insights into the genetic complexities of this cancer. The study highlights the importance of understanding the genetic basis of pediatric AML for improving prognostic classification and treatment options.
COMMUNICATIONS BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Katharina Rindler, Constanze Jonak, Natalia Alkon, Felix M. Thaler, Harald Kurz, Lisa E. Shaw, Georg Stingl, Wolfgang Weninger, Florian Halbritter, Wolfgang M. Bauer, Matthias Farlik, Patrick M. Brunner
Summary: The study identified a specific panel of biomarkers associated with disease progression in mycosis fungoides (MF) patients, which may be used for monitoring MF disease progression. Altered expression of these genes may underlie the switch in clinical phenotype observed in advanced-stage MF.
Article
Dermatology
Anh Ly Nguyen, Sanja Kezic, Maarten Vermeer, Koen Quint, Roderick Slieker, Remco van Doorn, Thomas Rustemeyer
Summary: Mycosis fungoides (MF) is a skin disease characterized by malignant CD4(+) T-cell infiltrates. Tape stripping technique can reveal the cytokine secretion pattern in MF skin lesions, showing the presence of pro-inflammatory cytokines. However, this technique cannot reliably distinguish MF skin from atopic dermatitis (AD) skin.
EXPERIMENTAL DERMATOLOGY
(2023)
Article
Hematology
Salvador Carrillo-Tornel, Tzu Hua Chen-Liang, Maria Zurdo, Anna Puiggros, Andrea Gomez-Llonin, Maria Dolores Garcia-Malo, Ernesto Jose Cuenca-Zamora, Francisco Jose Ortuno, Ana Maria Hurtado Lopez, Blanca Espinet, Andres Jerez
Summary: Prior studies have shown that chronic lymphocytic leukemia (CLL) has an indolent course due to dysregulated cyclin genes keeping most cells in the G(0)-G(1) cell cycle phase. This dysregulation is also observed in T lymphoblastic leukemia with NOTCH1 mutation. This study aimed to comprehensively investigate the cell cycle in NOTCH1-mutated CLL and identify potential therapeutic targets. The results revealed a distinct transcriptome profile in NOTCH1-mutated CLL cells, with an overexpression of early-phase effectors and increased cell cycling. Inhibition of NOTCH1 gamma-secretase and CDK4/6 showed promise as new therapeutic approaches for targeting NOTCH1-mutated CLL.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Immunology
Estella de Jong, Koen D. Quint, Abdoelwaheb El Ghalbzouri, Robert M. Verdijk, Jelle J. Goeman, Sebastiaan Heidt, Frans H. J. Claas, Johan W. de Fijter, Roel E. Genders, Maarten H. Vermeer, Jan Nico Bouwes Bavinck
Summary: In solid organ-transplant recipients, HLA-B/C expression tends to be upregulated in metastasized cutaneous squamous-cell carcinoma compared to non-metastasized cSCC. In immunocompetent patients, downregulation of HLA class I is associated with poor prognosis.
Letter
Hematology
Marie Solange Flores-Moran, Juan Jose Rodriguez-Sevilla, Leonor Arenillas, Xavier Calvo, Ana Puiggros, Blanca Espinet, Beatriz Costan, Maria Rodriguez-Rivera, Marta Salido, Ana Ferrer del Alamo
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2023)
Article
Dermatology
Pietro Quaglino, Julia Scarisbrick, Gabriele Roccuzzo, Alejandra Abeldano, Maxime Battistella, Chris McCormack, Richard Cowan, Antonio Cozzio, Jade Cury-Martins, Paula Enz, Larisa Geskin, Emmanuella Guenova, Youn H. Kim, Robert Knobler, Ivan V. Litvinov, Tomomitsu Miyagaki, Montserrat Molgo, Jan Nicolay, Evangelina Papadavid, Lauren Pinter-Brown, Ramon Pujol Vallverdu, Christiane Querfeld, Pablo Ortiz-Romero, Rudolf Stadler, Maarten H. Vermeer, Martine Bagot, Emmilia Hodak
Summary: This study investigated the lack of consensus on the definition and classification of 'plaque' in mycosis fungoides. The results showed that total consensus and high agreement rates were achieved in a significant percentage of questions, but high divergence rates were also reported. Therefore, there is still a need for further research to achieve a consensus and improve the clinical definition of plaques.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Hematology
Giulia Maggioni, Matteo Bersanelli, Erica Travaglino, Ana Alfonso Pierola, Annika Kasprzak, Arnan Sangerman Montserrat, Elisabetta Sauta, Claudia Sala, Tommaso Matteuzzi, Manja Meggendorfer, Matteo Gnocchi, Lin--Pierre Zhao, Cristina Astrid Tentori, Kathrin Nachtkamp, Daniele Dall'Olio, Ettore Mosca, Marta Ubezio, Alessia Campagna, Antonio Russo, Giulia Rivoli, Massimo Bernardi, Lorenza Borin, Maria Teresa Voso, Marta Riva, Esther Natalie Oliva, Matteo Zampini, Elena Riva, Elena Saba, Saverio D'Amico, Luca Lanino, Benedetta Tinterri, Francesca Re, Marilena Bicchieri, Laura Giordano, Giovanni Angelotti, Pierandrea Morandini, Anne Sophie Kubasch, Francesco Passamonti, Alessandro Rambaldi, Victor Savevski, Armando Santoro, Arjan A. van de Loosdrecht, Alice Brogi, Valeria Santini, Shahram Kordasti, Guillermo Sanz, Francesc Sole, Norbert Gattermann, Wolfgang Kern, Uwe Platzbecker, Lionel Ades, Pierre Fenaux, Torsten Haferlach, Gastone Castellani, Ulrich Germing, Maria Diez--Campelo, Matteo G. Della Porta
Summary: This study aimed to describe sex diversity in myelodysplastic syndromes and incorporate sex information into clinical decision-making. The study found differences between men and women in terms of disease genotype, phenotype, and clinical outcomes. Moreover, new prognostic models that included sex information were developed and performed better than the revised International Prognostic Scoring System.
LANCET HAEMATOLOGY
(2023)
Article
Oncology
Rosanne Ottevanger, Sylvia van Beugen, Andrea W. M. Evers, Rein Willemze, Maarten H. Vermeer, Koen D. Quint
Summary: This study provides insights into the impact of E-CTCL and mogamulizumab treatment on patients' quality of life and treatment satisfaction. Most patients had positive expectations and experienced improvements in symptoms, emotions, functioning, and overall quality of life. Mogamulizumab seems to be an effective treatment with high treatment satisfaction.
Article
Infectious Diseases
Irina Kislaya, Andre Peralta-Santos, Vitor Borges, Luis Vieira, Carlos Sousa, Bibiana Ferreira, Ana Pelerito, Joao Paulo Gomes, Pedro Pinto Leite, Baltazar Nunes
Summary: This study aimed to estimate the comparative vaccine effectiveness between the Omicron and Delta variants in terms of primary and booster vaccination exposure. The results showed that the odds of vaccination were higher in cases infected with the Omicron variant compared to the Delta variant, but the vaccine effectiveness was reduced. The vaccine effectiveness against Omicron for complete primary vaccination and booster dose was -6.0% and 62.7%, respectively.
INFLUENZA AND OTHER RESPIRATORY VIRUSES
(2023)
Article
Biochemistry & Molecular Biology
Antonio Jose Cabrera-Serrano, Jose Manuel Sanchez-Maldonado, Rob ter Horst, Angelica Macauda, Paloma Garcia-Martin, Yolanda Benavente, Stefano Landi, Alyssa Clay-Gilmour, Yasmeen Niazi, Blanca Espinet, Juan Jose Rodriguez-Sevilla, Eva Maria Perez, Rossana Maffei, Gonzalo Blanco, Matteo Giaccherini, James R. Cerhan, Roberto Marasca, Miguel Angel Lopez-Nevot, Tzu Chen-Liang, Hauke Thomsen, Irene Gamez, Daniele Campa, Victor Moreno, Silvia de Sanjose, Rafael Marcos-Gragera, Maria Garcia-Alvarez, Trinidad Dierssen-Sotos, Andres Jerez, Aleksandra Butrym, Aaron D. Norman, Mario Luppi, Susan L. Slager, Kari Hemminki, Yang Li, Sonja I. Berndt, Delphine Casabonne, Miguel Alcoceba, Anna Puiggros, Mihai G. Netea, Asta Foersti, Federico Canzian, Juan Sainz
Summary: Chronic lymphocytic leukemia (CLL) is the most common leukemia among adults worldwide. However, a study found that the GWAS-identified risk variants for CLL do not significantly impact overall survival and disease progression in CLL patients. The polygenic risk scores (PRSs) built with these risk variants also have limited accuracy in predicting patient survival and disease progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Letter
Dermatology
Susana Garcia-Silva, Cristina Vico-Alonso, Lisa Meyer, Daniel Enderle, J. Aquiles Sanchez, Maria del Mar Onteniente, Mikkel Noerholm, Johan Skog, Jose-Luis Rodriguez-Peralto, Pablo-Luis Ortiz-Romero, Hector Peinado
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Review
Oncology
Oriol Calvete, Julia Mestre, Andres Jerez, Francesc Sole
Summary: The classification of secondary myelodysplastic neoplasms (MDSs) in patients with a previous primary tumor is still controversial due to the lack of an established consensus risk factor-based classification. Current classifications consider separate etiologies based on exposure to cytotoxic therapy and genetic predisposition, despite the evidence of overlapping risk factors. This review aims to summarize the current knowledge of secondary MDS etiologies and suggests the need for future classifications that take into account all risk factors and their interactions.
Editorial Material
Dermatology
Mariia Rivera, Emilio Lopez-Trujillo, Andrea Ciuda, Gemma Martin-Ezquerra, Ramon M. Pujol
Summary: We present a case of a 60-year-old patient who had several flares of nonscaling, erythematous, urticarial annular skin lesions on her abdomen, buttocks and proximal extremities, possibly related to COVID-19 vaccination. The skin biopsy revealed a dense infiltration of lymphocytes and abundant eosinophils, suggesting an inflammatory response.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2023)
Article
Oncology
Sofia Toribio-Castello, Sandra Castano, Angela Villaverde-Ramiro, Esperanza Such, Montserrat Arnan, Francesc Sole, Marina Diaz-Beya, Maria Diez-Campelo, Monica del Rey, Teresa Gonzalez, Jesus Maria Hernandez-Rivas
Summary: This study found that mutations in STAG2, SRSF2 and RUNX1 are independent prognostic factors in isolated +8 MDS, defining the disease's course in terms of overall survival and leukemic transformation. These findings help identify high-risk patients and open new management possibilities for MDS patients with isolated +8.
Article
Multidisciplinary Sciences
Leyla Blanco-Garcia, Yolanda Ruano, Raquel Blanco Martinez-Illescas, Rocio Cubo, Paula Jimenez Sanchez, Victor J. Sanchez-Arevalo Lobo, Erica Riveiro Falkenbach, Pablo Ortiz Romero, Maria C. Garrido, Jose L. Rodriguez Peralto
Summary: This study clarified the role of TERT promoter molecular status in primary melanoma and metastasis samples, and established a correlation with disease progression and survival. The results showed a good correlation between pTERT mutation and methylation status in primary tumors and metastases. The C250T mutation was associated with worse survival and higher TERT mRNA expression, and hyper-methylation of the promoter region seemed to be related to the progression of pTERT wild type patients. These findings suggest that TERT gene alterations could serve as potential biomarkers of poor prognosis in patients with advanced melanoma, detectable in both tissue and plasma samples.
Article
Immunology
Irina Kislaya, Pedro Casaca, Vitor Borges, Carlos Sousa, Bibiana I. Ferreira, Ana Fonte, Eugenia Fernandes, Carlos Matias Dias, Silvia Duarte, Jose Pedro Almeida, Ines Grenho, Luis Coelho, Rita Ferreira, Patricia Pita Ferreira, Claudia Medeiros Borges, Joana Isidro, Miguel Pinto, Luis Menezes, Daniel Sobral, Alexandra Nunes, Daniela Santos, Antonio Maia Goncalves, Luis Vieira, Joao Paulo Gomes, Pedro Pinto Leite, Baltazar Nunes, Ausenda Machado, Andre Peralta-Santos
Summary: We evaluated the effectiveness of primary and booster vaccination against SARS-CoV-2 Omicron BA.5 and BA.2 lineages in preventing infection and disease progression. Through a case-case and cohort study, we determined the odds ratios for vaccination using logistic regression and the vaccine effectiveness against disease progression through penalized logistic regression. Our findings showed that there were no reduced vaccine effectiveness for both primary and booster vaccinations against BA.5 infection. However, booster vaccine effectiveness against hospitalization was lower for BA.5 cases compared to BA.2 cases. Despite this, booster vaccination still provided substantial protection against severe disease progression from BA.5 infection.
EMERGING INFECTIOUS DISEASES
(2023)
