Review
Oncology
Roberto Castelli, Monica Balzarotti, Emanuele Salvi, Roberta Simona Rossi, Giorgio Lambertenghi Deliliers, Luigi Bergamaschini, Antonio Gidaro
Summary: Splenic marginal zone lymphoma (SMZL) is a rare lymphoproliferative disease affecting elderly patients. It primarily involves the peripheral blood, bone marrow, and spleen, while sparing the lymph nodes. The prolonged antigen stimulation of B lymphocytes and microenvironment play a crucial role in the development of SMZL. NOTCH2 and NFk-B signaling integration has been identified as the primary mechanism of neoplastic proliferation in SMZL. The prognosis of SMZL depends on individual risk factors and patients' health status.
Article
Hematology
Gabriela Bastidas-Mora, Silvia Bea, Alba Navarro, Eva Gine, Dolors Costa, Julio Delgado, Tycho Baumann, Laura Magnano, Alfredo Rivas-Delgado, Neus Villamor, Dolors Colomer, Monica Lopez-Guerra, Maria Rozman, Olga Balague, Daniel Martinez, Maria Joao Baptista, Lourdes Escoda, Miguel Alcoceba, Margarita Blanes, Fina Climent, Elias Campo, Andrew Wotherspoon, Armando Lopez-Guillermo, Estella Matutes
Summary: The study describes 36 patients with splenic marginal zone lymphoma (SMZL) with transformation, with predictors including cytopenias, hypoalbuminaemia, and complex karyotype. Patients with SMZL-T have a higher risk of death, mostly developing diffuse large B-cell lymphoma post transformation, with predictors for worse survival being high-risk International Prognostic Index and lack of complete response.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Hematology
Andreea Sima, Peter Hollander, Eva Baecklund, Karin E. Smedby, Gunilla Enblad, Rose-Marie Amini
Summary: This study assessed the prevalence of viral hepatitis and AID in SMZL patients in a Swedish population and their treatment outcomes. The study found that upfront splenectomy was associated with better overall survival and progression-free survival. History of viral hepatitis and AID did not impact the outcomes of SMZL.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Medicine, Research & Experimental
Kei Nakayama, Takeshi Yoshida, Yoshiaki Nakayama, Noriaki Iguchi, Yuta Namba, Morichika Konishi, Hiroshi Hasegawa
Summary: This study focused on investigating the impact of malnutrition on the spleen, revealing significant reductions in spleen weight and red pulp ratio in dietary-restricted mice. It was found that macrophages in the marginal zone of the spleen play a crucial role in the dietary restriction-induced splenic involution.
Article
Oncology
Lucas W. Thornblade, Paul Wong, Daneng Li, Susanne G. Warner, Sue Chang, Mustafa Raoof, Jonathan Kessler, Arya Amini, James Lin, Vincent Chung, Gagandeep Singh, Yuman Fong, Laleh G. Melstrom
Summary: Cholangiocarcinomas are rare cancers with potentially targetable mutations, and a third of patients undergoing resection in the past decade have had tumor genomic profiling, with 89% harboring targetable mutations. While targeted therapies were identified in most sequenced tumors, only 4% of patients received these therapies, highlighting the potential for precision medicine in the future care of cholangiocarcinoma.
Article
Hematology
Rui Lyu, Tingyu Wang, Yi Wang, Wenjie Xiong, Huijun Wang, Yuting Yan, Qi Wang, Wei Liu, Gang An, Wenyang Huang, Weiwei Sui, Yan Xu, Dehui Zou, Jianxiang Wang, Lugui Qiu, Shuhua Yi
Summary: This study found that undetectable minimal residual disease (uMRD) in splenic marginal zone lymphoma (SMZL) patients is an independent prognostic factor, helping to predict patient survival.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Review
Oncology
Juan Pablo Alderuccio, Izidore S. Lossos
Summary: NOTCH signaling, particularly NOTCH2, plays a critical role in the pathogenesis of splenic marginal zone lymphoma (SMZL). Frequent mutations of NOTCH2 in SMZL underscore its importance in the disease. While NOTCH signaling presents an appealing target for drug discovery in SMZL, previous efforts have not shown meaningful clinical benefit or faced safety concerns.
LEUKEMIA & LYMPHOMA
(2022)
Article
Medicine, General & Internal
Su-Jung Park, Narae Lee, Seong-Hee Jeong, Mun-Hui Jeong, Shin-Yun Byun, Kyung-Hee Park
Summary: The prevalence of genetic causes in SGA infants without known risk factors was 22%, and targeted-panel sequencing or whole-exome sequencing was effective in diagnosing the etiology of SGA infants without a known cause.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani
Summary: Intelectual disability (ID) and autism spectrum disorder (ASD) are often associated and characterized by impairments in cognitive processes and daily life tasks. Molecular diagnosis is crucial for improving prognosis and initiating treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Rheumatology
Yiming Luo, Marcela A. Ferrada, Keith A. Sikora, Cameron Rankin, Hugh D. Alessi, Daniel L. Kastner, Zuoming Deng, Mengqi Zhang, Peter A. Merkel, Virginia B. Kraus, Andrew S. Allen, Peter C. Grayson
Summary: This study suggests that rare variants in the DCBLD2 gene may play a role in the development of RP. These findings should be further validated in a larger sample and supported by functional experiments.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Plant Sciences
Hisashi Udagawa, Hiroyuki Ichida, Takanori Takeuchi, Tomoko Abe, Yoshimitsu Takakura
Summary: In this study, a whole-exome sequencing (WES) procedure was developed in tobacco to characterize EMS-induced mutations in a test population, revealing a high number of single nucleotide variants. The amount of mutations detected by WES was 93.5% of those detected by whole-genome sequencing, while requiring significantly less sequencing data, making it a cost-effective tool for high-throughput mutation identification in tobacco.
FRONTIERS IN PLANT SCIENCE
(2021)
Review
Pathology
Alberto Zamo, Michiel van den Brand, Fina Climent, Laurence de Leval, Stefan Dirnhofer, Lorenzo Leoncini, Siok-Bian Ng, Sarah L. Ondrejka, Leticia Quintanilla-Martinez, Lorinda Soma, Andrew Wotherspoon
Summary: Session 3 of the lymphoma workshop at the joint meeting of the European Association for Haematopathology and the Society for Hematopathology discussed splenic and nodal marginal zone lymphomas, transformation in marginal zone lymphomas, and pediatric nodal marginal zone lymphomas. The case review emphasized the challenges in diagnosing marginal zone lymphomas, including distinguishing between different types and the need for molecular studies to establish a final diagnosis. The workshop also addressed the overlapping spectrum between pediatric nodal marginal zone lymphoma and pediatric-type follicular lymphoma.
Article
Oncology
Shuang Wen, Tianqing Liu, Hongshuo Zhang, Xu Zhou, Huidan Jin, Man Sun, Zhifei Yun, Hong Luo, Ze Ni, Rui Zhao, Bo Fan
Summary: A study using whole-exome sequencing identified mutations and predisposing genes in a 77-year-old female with renal MALT lymphoma, including mutations in PHOX2B and ADCY1. Immunohistochemical analysis showed positive protein markers and suggested aberrant signaling of PHOX2B and ADCY1 could contribute to disease progression. The research emphasizes the importance of alternative adjuvant therapy based on the findings.
FRONTIERS IN ONCOLOGY
(2021)
Article
Genetics & Heredity
Audrey N. Jajosky, Anna L. Mitchell, Mahmut Akgul, Shashirekha Shetty, Jennifer M. Yoest, Stanton L. Gerson, Navid Sadri, Kwadwo A. Oduro
Summary: Germline disruptive variants in the POT1 gene predispose individuals to multiple types of cancer. We report a case of splenic marginal zone lymphoma in a 65-year-old male with a germline POT1 variant. This likely pathogenic variant represents one of the most deleterious POT1 variants linked to familial cancer.
Article
Pathology
Simona Righi, Domenico Novero, Laura Godio, Clara Bertuzzi, Francesco Bacci, Claudio Agostinelli, Carlo Sagramoso, Maura Rossi, Milena Piccioli, Anna Gazzola, Claudia Mannu, Giovanna Roncador, Elena Sabattini
Summary: By studying multiple cases of LPL and SMZL, it was found that MNDA expression significantly supports the diagnosis of SMZL, especially in cases where MYD88 p.Leu265Pro mutation status and/or SMZL-related genetic aberrations are unavailable.
Letter
Hematology
Meletios A. Dimopoulos, Philippe Moreau, Bradley Augustson, Nelson Castro, Tomas Pika, Sosana Delimpasi, Javier De la Rubia, Angelo Maiolino, Tony Reiman, Joaquin Martinez-Lopez, Thomas Martin, Joseph Mikhael, Kwee Yong, Marie-Laure Risse, Gaelle Asset, Sylvia Marion, Roman Hajek
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Hematology
Sabine Kayser, David Martinez-Cuadron, Maher Hanoun, Friedrich Stoelzel, Cristina Gil, H. Christian Reinhardt, Eliana Aguiar, Kerstin Schaefer-Eckart, Juan Miguel Bergua Burgues, Bjoern Steffen, Teresa Bernal, Stefan W. Krause, Rosalia Riaza, Christoph Schliemann, Jose Cervera, Martin Kaufmann, Laura Torres-Minana, Mathias Haenel, Evelyn Acuna-Cruz, Edgar Jost, Jesus Lorenzo Algarra, Martina Crysandt, Lars Fransecky, Javier Cornago-Navascues, Sabrina Kraus, Joaquin Martinez-Lopez, Hermann Einsele, Dirk Niemann, Andreas Neubauer, Ruth Seggewiss-Bernhardt, Sebastian Scholl, Stefan A. Klein, Christoph Schmid, Markus Schaich, Martin Schmidt-Hieber, Sven Zukunft, Anthony D. Ho, Uwe Platzbecker, Claudia D. Baldus, Carsten Mueller-Tidow, Christian Thiede, Martin Bornhaeuser, Hubert Serve, Mark J. Levis, Pau Montesinos, Christoph Roellig, Richard F. Schlenk
Summary: This retrospective study analyzed 125 patients with acute myeloid leukemia and trisomy 4. Among them, 22% had trisomy 4 as the sole abnormality, while the remaining 78% had additional abnormalities. Patients with trisomy 4 as their sole abnormality had a high complete remission rate, but allogeneic hematopoietic cell transplantation did not improve overall survival.
Letter
Hematology
Ramon Diez-Feijoo, Concepcion Fernandez-Rodriguez, Marta Lafuente, Nieves Garcia-Gisbert, Ana Ferrer, Luis Colomo, Marta Salido, Antonio Salar
Letter
Hematology
Oriol Calvete, Julia Mestre, Arda Durmaz, Carmelo Gurnari, Jaroslaw P. Maciejewski, Francesc Sole
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Medicine, Research & Experimental
Ana Muntanola, Jose Maria Arguinano-Perez, Julio Davila, Sonia Gonzalez de Villambrosia, Cecilia Carpio, Ana Jimenez-Ubieto, Antonio Salar
Summary: This study retrospectively reviewed the safety and tolerability of rapid 90-min intravenous infusion of SDZ-RTX in patients with CD20+ lymphoma or CLL. The results showed that this rapid infusion schedule was well-tolerated, with no severe adverse reactions during the second and subsequent infusions.
CTS-CLINICAL AND TRANSLATIONAL SCIENCE
(2023)
Article
Hematology
Sara Fernandez, Jose L. Solorzano, Eva Diaz, Victoria Menendez, Lorena Maestre, Sara Palacios, Mar Lopez, Argentina Colmenero, Monica Estevez, Carlos Montalban, Angel Martinez, Giovanna Roncador, Juan F. Garcia
Summary: The therapeutic potential of JAK/STAT inhibitors in cHL is confirmed by the study, which investigated the effects of JAK/STAT pharmacological inhibition on cHL cell models using ruxolitinib. The study also identified CSF3R as a new biomarker and provided supporting genetic data and mechanistic understanding.
Article
Oncology
Elisabetta Sauta, Marie Robin, Matteo Bersanelli, Erica Travaglino, Manja Meggendorfer, Lin-Pierre Zhao, Juan Carlos Caballero Berrocal, Claudia Sala, Giulia Maggioni, Massimo Bernardi, Carmen Di Grazia, Luca Vago, Giulia Rivoli, Lorenza Borin, Saverio D'Amico, Cristina Astrid Tentori, Marta Ubezio, Alessia Campagna, Antonio Russo, Daniele Mannina, Luca Lanino, Patrizia Chiusolo, Luisa Giaccone, Maria Teresa Voso, Marta Riva, Esther Natalie Oliva, Matteo Zampini, Elena Riva, Olivier Nibourel, Marilena Bicchieri, Niccolo' Bolli, Alessandro Rambaldi, Francesco Passamonti, Victor Savevski, Armando Santoro, Ulrich Germing, Shahram Kordasti, Valeria Santini, Maria Diez-Campelo, Guillermo Sanz, Francesc Sole, Wolfgang Kern, Uwe Platzbecker, Lionel Ades, Pierre Fenaux, Torsten Haferlach, Gastone Castellani, Matteo Giovanni Della Porta
Summary: The study validates the effectiveness of the Molecular International Prognostic Scoring System (IPSS-M) in predicting clinical outcomes of patients with myelodysplastic syndromes (MDS). IPSS-M improves the prognostic discrimination of the Revised International Prognostic Scoring System (IPSS-R) and enhances the accuracy of selecting candidates for hematopoietic stem cell transplantation (HSCT).
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Leire Burgos, Luis-Esteban Tamariz-Amador, Noemi Puig, Maria-Teresa Cedena, Camila Guerrero, Tomas Jelinek, Sarah Johnson, Paolo Milani, Lourdes J. Cordon, Jose Perez, Marta Lasa, Rosalinda Termini, Albert Oriol, Miguel-Teodoro Hernandez, Luis Palomera, Rafael Martinez-Martinez, Javier de la Rubia, Felipe de Arriba, Rafael Rios, Maria-Esther Gonzalez, Mercedes Gironella, Valentin Cabanas, Maria Casanova, Isabel Krsnik, Albert Perez-Montana, Veronica Gonzalez-Calle, Paula Rodriguez-Otero, Vladimir Maisnar, Roman Hajek, Fritz Van Rhee, Victor Jimenez-Zepeda, Giovanni Palladini, Giampaolo Merlini, Alberto Orfao, Javier de la Cruz, Joaquin Martinez-Lopez, Juan-Jose Lahuerta, Laura Rosinol, Joan Blade, Maria-Victoria F. Mateos, Jesus San-Miguel, Bruno Paiva
Summary: An algorithm to identify patients with MGUS-like phenotype in multiple myeloma (MM) and light-chain (AL) amyloidosis was developed and its clinical significance was validated. The presence of MGUS-like phenotype in smoldering MM was associated with lower rates of disease progression, while in newly diagnosed active MM, it retained independent prognostic value in terms of progression-free survival (PFS) and overall survival (OS). The algorithm also predicted different survival outcomes in patients with AL amyloidosis.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Cell Biology
Elizabeth J. Wiseman, Jennifer I. Moss, James Atkinson, Hana Baakza, Emily Hayes, Sophie E. Willis, Paul M. Waring, Jaime Rodriguez Canales, Gemma N. Jones
Summary: Phosphorylated biomarkers are important for understanding drug mechanisms and dose selection in clinical trials, especially for protein kinase-targeting drugs like DNA-damage-response (DDR) inhibitors. However, the tissue fixation conditions for preserving DDR-specific phospho-biomarkers have not been explored. This study found that immediate formalin submersion and room temperature fixation for 24 hours are crucial steps for preserving DDR phosphorylated biomarkers.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
(2023)
Article
Pathology
J. Lynn Fink, Binny Jaradi, Nathan Stone, Lisa Anderson, Paul J. Leo, Mhairi Marshall, Jonathan Ellis, Paul M. Waring, Kenneth O'Byrne
Summary: Identification of somatic variants in cancer using high-throughput sequencing is common in clinical practice due to their predictive value for targeted therapies. SLIMamp technology, incorporated into commercially available cancer next-generation sequencing testing kits, claims to be able to analyze challenging tissue samples with low tumor purity, poor-quality DNA, and/or low-input DNA. This study aimed to substantiate this claim using the oncoReveal Solid Tumor Panel.
JOURNAL OF MOLECULAR DIAGNOSTICS
(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.
Article
Oncology
Natalia Buenache, Andrea Sanchez-delaCruz, Isabel Cuenca, Alicia Gimenez, Laura Moreno, Joaquin Martinez-Lopez, Juan Manuel Rosa-Rosa
Summary: Despite improvements in patient outcomes using targeted anti-myeloma agents, multiple myeloma remains largely incurable. We used targeted capture hybridization DNA sequencing (tchDNA-Seq) technology to find new biomarkers for patient stratification and treatment outcomes prediction. These potential biomarkers could guide targeted and risk-adapted therapeutic approaches for multiple myeloma patients at different disease stages.
Article
Oncology
Joaquin Martinez-Lopez, Javier De la Cruz, Rodrigo Gil-Manso, Adrian Alegre, Javier Ortiz, Pilar Llamas, Yolanda Martinez, Jose-Angel Hernandez-Rivas, Isabel Gonzalez-Gascon, Celina Benavente, Pablo Estival Monteliu, Victor Jimenez-Yuste, Miguel Canales, Mariana Bastos, Mi Kwon, Susana Valenciano, Marta Callejas-Charavia, Javier Lopez-Jimenez, Pilar Herrera, Rafael Duarte, Lucia Nunez Martin-Buitrago, Pedro Sanchez Godoy, Cristina Jacome Yerovi, Pilar Martinez-Barranco, Maria Garcia Roa, Cristian Escolano Escobar, Arturo Matilla, Belen Rosado Sierra, Maria Concepcion Alaez-Uson, Keina Quiroz-Cervantes, Carmen Martinez-Chamorro, Jaime Perez-Oteyza, Rafael Martos-Martinez, Regina Herraez, Clara Gonzalez-Santillana, Juan Francisco Del Campo, Arancha Alonso, Adolfo de la Fuente, Adriana Pascual, Rosalia Bustelos-Rodriguez, Ana Sebrango, Elena Ruiz, Eriel Alexis Marcheco-Pupo, Carlos Grande, Angel Cedillo, Carlos Lumbreras, Andres Arroyo Barea, Jose Manuel Casas-Rojo, Maria Calbacho, Jose Luis Diez-Martin, Julio Garcia-Suarez
Summary: This study evaluated the severity and survival of unvaccinated patients with hematological malignancies and COVID-19, compared to non-cancer patients. The 30-day mortality rate was 32.7%, with higher mortality among certain patient groups. The mortality rates in hematologic malignancy patients did not decrease like in non-cancer patients. Additionally, 27.3% of patients had post-COVID-19 conditions.
Article
Pharmacology & Pharmacy
Alberto Blanco Sanchez, Rodrigo Gil Manso, Gonzalo Carreno-Tarragona, Diana Paredes Ruiz, Jesus Gonzalez Olmedo, Joaquin Martinez-Lopez, Carmen Diaz Pedroche, Rosa Ayala
Summary: This study demonstrates the importance of assessing cardiovascular risk and effectively managing risk factors in patients with CML treated with tyrosine kinase inhibitors. Follow-up in a specialized cardiovascular risk consultation can lead to a reduction in cardiovascular adverse events and improve patients' overall cardiovascular health.
FRONTIERS IN PHARMACOLOGY
(2023)
Meeting Abstract
Transplantation
Marc Patricio Liebana, Alicia Senin, Maria Azancot, Mercedes Gironella, Nestor Toapanta Gaibor, Sheila Bermejo Garcia, Lucia Martin, Fernando Caravaca-Fontan, Clara Cuellar Perez-Avila, Joaquin Martinez-Lopez, Eva Rodriguez-Garcia, Oriol Bestard Matamoros, Maria Jose Soler Romeo, Natalia Ramos Terrades
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)