Article
Cell Biology
Julia Bein, Nadine Flinner, Bjorn Haeupl, Aastha Mathur, Olga Schneider, Marwa Abu-Ayyad, Martin-Leo Hansmann, Matthieu Piel, Thomas Oellerich, Sylvia Hartmann
Summary: Based on proteomics and migration behavior, T-cell-derived cHL is a neoplasm that shares features with both cHL and ALCL, and is not an ALCL with low tumor cell content. Complementary clinical studies on this lymphoma are warranted.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2022)
Article
Hematology
Zhihui Song, Wenjun Wu, Wei Wei, Wenming Xiao, Michelle Lei, Kathy Q. Cai, Da Wei Huang, Subin Jeong, Jing-Ping Zhang, Hongbo Wang, Marshall E. Kadin, Thomas A. Waldmann, Louis M. Staudt, Masao Nakagawa, Yibin Yang
Summary: This study revealed the critical role of the interleukin-1R (IL-1R) inflammatory pathway in pC-ALCL and its potential as a therapeutic target. The IL-1R pathway was found to promote JAK-STAT3 signaling activation and enhance the sensitivity of pC-ALCL cells to JAK inhibitors. The dual inhibitor pacritinib showed strong activities against pC ALK(-) ALCL in vitro and in vivo.
Article
Oncology
Wei Wei, Zhihui Song, Masahiro Chiba, Wenjun Wu, Subin Jeong, Jing-Ping Zhang, Marshall E. Kadin, Masao Nakagawa, Yibin Yang
Summary: This study reveals the distinct roles of EP300 and CREBBP in ALCL and HL, with EP300 directly modulating the expression of oncogenes and immune-related molecules. The use of EP300/CREBBP inhibitors shows strong activities against ALCL and HL cells and inhibits tumor immune escape through PD-L1.
Article
Hematology
Fengjie Liu, Yumei Gao, Bufang Xu, Shan Xiong, Shengguo Yi, Jingru Sun, Zhuojing Chen, Xiangjun Liu, Yingyi Li, Yuchieh Lin, Yujie Wen, Yao Qin, Shuxia Yang, Hang Li, Trilokraj Tejasvi, Lam Tsoi, Ping Tu, Xianwen Ren, Yang Wang
Summary: This study identified unique transcriptional programs and enriched expression of genes at the chr7q locus in tumors undergoing large-cell transformation (LCT) in late-stage mycosis fungoides (MF). Aberrant expression of the imprinted gene Paternally Expressed Gene 10 (PEG10) in LCT was shown to drive cell size increase, promote proliferation, and confer treatment resistance through a PEG10/KLF2/NF-kappa B axis. Pharmacological targeting of PEG10 reversed the proliferation and treatment resistance phenotypes in LCT, suggesting PEG10 inhibition as a promising therapeutic approach.
Article
Hematology
Elif Karaca Atabay, Carmen Mecca, Qi Wang, Chiara Ambrogio, Ines Mota, Nina Prokoph, Giulia Mura, Cinzia Martinengo, Enrico Patrucco, Giulia Leonardi, Jessica Hossa, Achille Pich, Luca Mologni, Carlo Gambacorti-Passerini, Laurence Brugieres, Birgit Geoerger, Suzanne D. Turner, Claudia Voena, Taek-Chin Cheong, Roberto Chiarle
Summary: This study identified PTPN1 and PTPN2 phosphatases as drivers of resistance to ALK TKIs in ALK(+) ALCL. These phosphatases regulate ALK phosphorylation and activity, and their loss leads to TKI resistance. Furthermore, SHP2 is a key mediator of oncogenic ALK signaling, and PTPN1 acts as a phosphatase for SHP2. Combination therapy with a SHP2 inhibitor can overcome TKI resistance in ALK(+) ALCL.
Editorial Material
Clinical Neurology
Lauren Lu, Agnes Zhu, Christopher Y. Itoh, Ryan P. Coburn, Rafid Mustafa
Summary: A 26-year-old man presented with progressive encephalopathy, right inferior quadrantanopia, right hemiparesis, and facial swelling for 2 months. Imaging studies revealed an enhancing left parietal lesion and PET scan showed hypermetabolism in the lesion, face, and abdominal musculature. Biopsies confirmed CD8(+), CD30(-) T-cell lymphoma and the patient responded well to methotrexate and temozolomide treatment.
Review
Pathology
Catalina Amador, Andrew L. Feldman
Summary: This review discusses the diagnosis of all 4 anaplastic large cell lymphoma (ALCL) entities, emphasizing the importance of a systematic approach and awareness of potential misdiagnosis. ALCLs are a group of mature T-cell lymphomas with CD30-positive characteristics, but they vary clinically and genetically. Special attention is needed for variant histology, clinical history, and antigenic aberrancies to accurately diagnose and subclassify ALCL.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY
(2021)
Review
Immunology
Jennifer E. Agrusa, Emily R. Egress, Eric J. Lowe
Summary: ALCL is the most common mature T-cell non-Hodgkin lymphoma in children/adolescents, and improved therapies are needed. Brentuximab vedotin, an anti-CD30 antibody-drug conjugate, has shown safety and efficacy in clinical trials for ALCL in both pediatric and adult populations. Future studies should investigate combination therapies with brentuximab vedotin and other targeted agents.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Paolo F. Caimi, Gabriela Pacheco Sanchez, Ashish Sharma, Folashade Otegbeye, Nausheen Ahmed, Patricio Rojas, Seema Patel, Sarah Kleinsorge Block, Jennifer Schiavone, Kayla Zamborsky, Kirsten Boughan, Antoinette Hillian, Jane Reese-Koc, Mikhail Maschan, Boro Dropulic, Rafick-Pierre Sekaly, Marcos De Lima
Summary: In this study, the efficacy of anti-CD19 CAR-T cells in treating relapsed/refractory lymphoma patients was investigated. Prophylactic use of tocilizumab was found to reduce the incidence and severity of cytokine release syndrome, without increasing the frequency or severity of ICANS, leading to improved treatment outcomes and survival rates for patients.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Oncology
Xin-Rui Zhang, Pham-Ngoc Chien, Sun-Young Nam, Chan-Yeong Heo
Summary: Anaplastic large cell lymphoma is a rare disease with four subtypes that differ in clinical symptoms, gene changes, prognosis, and treatment.
Article
Surgery
Ryan C. DeCoster, Mark W. Clemens, Arianna Di Napoli, Evan B. Lynch, Alisha R. Bonaroti, Brian D. Rinker, Timothy A. Butterfield, Henry C. Vasconez
Summary: BIA-ALCL is an emerging and highly treatable cancer associated with textured-surface breast implants. The underlying cause is not fully understood, but mechanisms such as chronic inflammation and genetic susceptibility have been proposed. The JAK-STAT3 pathway is believed to play a key role in BIA-ALCL tumorigenesis and progression, offering potential avenues for prognostic indicators and therapeutic targets in advanced disease.
PLASTIC AND RECONSTRUCTIVE SURGERY
(2021)
Article
Immunology
Sylvain Raimbault, Guillaume Monneret, Morgane Gossez, Fabienne Venet, Alexandre Belot, Franck Zekre, Solene Remy, Etienne Javouhey
Summary: In this study, the researchers examined the use of monocyte human leucocyte antigen (mHLA)-DR as a potential diagnostic marker for secondary HLH (sHLH). They found that levels of mHLA-DR were significantly higher in patients with sHLH compared to healthy children and those with septic shock. Additionally, mHLA-DR levels decreased after treatment initiation. The findings suggest that elevated mHLA-DR could aid in the diagnosis of sHLH and distinguish it from septic shock.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Chuancang Jiang, Ming-Lang Zhao, Luis Ramos, Katarzyna Dobaczewska, Ronald Herbert, Kristen Hobbie, Zbigniew Mikulski, Laurent Verkoczy, Marilyn Diaz
Summary: The study found that mice lacking antibodies did not exhibit kidney pathology but still experienced high mortality. These mice progressed to high-grade T cell lymphoma, which could be reversed by injection of autoreactive IgM antibodies or adoptive transfer of IgM-secreting B cells. The lymphoma originated from a double-negative aberrant T cell population and closely resembled human anaplastic large cell lymphoma.
JOURNAL OF IMMUNOLOGY
(2021)
Article
Oncology
V. Subbiahy, S. Kuraviy, S. Ganguly, D. R. Welch, C. J. Vivian, M. U. Mushtaq, A. Hegde, S. Iyer, A. Behrang, S. M. Ali, R. W. Madison, J. M. Venstrom, R. A. Jensen, J. P. McGuirk, H. M. Amin, R. Balusu
Summary: The study demonstrates that Ceritinib shows inhibitory effects on the fusion kinase NPM1-ALK and induces apoptosis of lymphoma cells in vitro and in vivo. Treatment with Ceritinib in the NPM1-ALKthorn ALCL xenograft model resulted in tumor regression and improved survival. Among 19,272 patients sequenced, 0.30% harbored ALK fusions, including various hematologic malignancies.
Article
Virology
Hans Martin Orth, Andre Fuchs, Nadine Luebke, Bjoern-Erik Ole Jensen, Tom Luedde
Summary: We report an unusual case of recurrent Hemophagocytic lymphohistiocytosis (HLH) caused by Parvovirus B19 infection. The recurrent viremia triggered three episodes of hyperinflammation, two of which were clearly diagnosed as HLH. This case provides new insight into triggering mechanisms for HLH.
Article
Pediatrics
Geraldine Engels, Bernd Doehler, Burkhard Toenshoff, Jun Oh, Anne Kruchen, Ingo Mueller, Caner Suesal
Summary: Research suggests that in young pediatric kidney transplant recipients, receiving a kidney from a maternal donor is associated with a lower rate of treated rejection compared to receiving a kidney from a paternal donor, while the 5-year graft survival rate remains similar.
PEDIATRIC TRANSPLANTATION
(2022)
Article
Cell Biology
Ina Harder, Matthias Muenchhalfen, Geoffroy Andrieux, Melanie Boerries, Bodo Grimbacher, Hermann Eibel, Maria Elena Maccari, Stephan Ehl, Juergen Wienands, Julia Jellusova, Klaus Warnatz, Baerbel Keller
Summary: Alterations in signaling pathways downstream of antigen receptors in T and B cells contribute to dysregulation of the adaptive immune system, potentially leading to immunodeficiency and autoimmunity. Investigating patients with genetically defined primary immunodeficiencies provides insights into these complex systems. Disturbed B-cell receptor signaling was observed in a subgroup of CVID patients, while a gain-of-function mutation in PIK3CD did not impair BCR-induced AKT-mTOR-S6 phosphorylation in APDS patients. This highlights the fundamental differences in B-cell signaling defects between CVID and APDS, and suggests that assessing BCR stimulation responses is a suitable diagnostic test for APDS.
Article
Education, Scientific Disciplines
Sebastian F. N. Bode, Sebastian Friedrich, Christine Straub
Summary: This study aims to evaluate the short- and long-term outcomes of healthcare professionals participating in the Interprofessional Training Ward in Paediatrics (IPAPAED). The results showed that IPAPAED participants had increased scores in the Interprofessional Socialization and Valuing Scale (ISVS 9 A/B), indicating improved communication competencies and accommodation in IP teams. These improvements persisted 6-34 months later.
Letter
Oncology
Markus G. Seidel, Luka Brcic, Gerald Hoefler, Caroline Hutter, Milen Minkov, Laura Sophie Steffen, Armin Zebisch, Martin Benesch
PEDIATRIC BLOOD & CANCER
(2023)
Article
Oncology
Anna Perrone, Karoly Lakatos, Francesco Pegoraro, Irene Trambusti, Ilaria Fotzi, Valeria Selvi, Helmut Prosch, Fiammetta Sertorio, Ulrike Poetschger, Claudio Favre, Massimo Conte, Milen Minkov, Elena Sieni
Summary: This study compares the efficacy of whole-body magnetic resonance imaging (WB-MRI) and radiographic skeletal survey (R-SS) in the initial staging of Langerhans cell histiocytosis (LCH). The results show that WB-MRI has a higher accuracy in identifying skeletal lesions compared to R-SS, however, clinical and radiology expertise is required to avoid upstaging and overtreatment.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Hematology
Kerstin Schuetze, Miriam Gross, Kerstin Cornils, Katharina Wustrau, Sonja Schneppenheim, Henning Lenhartz, G. Christoph Korenke, Gritta Janka, Svea Ledig, Ingo Mueller, Stephan Ehl, Kai Lehmberg
Summary: Multiple hereditary forms of hemophagocytic lymphohistiocytosis (HLH) are caused by defects of cytotoxicity, including vesicle trafficking disorder Griscelli syndrome type 2 (GS2) and MADD deficiency, resulting in various syndromic features. This study demonstrates that MADD deficiency leads to a defect in cytotoxicity, contributing to the pathogenesis of HLH.
Article
Hematology
Paul G. Kemps, Timo C. E. Zondag, Helga B. Arnardottir, Nienke Solleveld-Westerink, Jelske Borst, Eline C. Steenwijk, Demi van Egmond, Joost F. Swennenhuis, Ellen Stelloo, Irene Trambusti, Robert M. Verdijk, Carel J. M. van Noesel, Arjen H. G. Cleven, Marijn A. Scheijde-Vermeulen, Marco J. Koudijs, Lenka Krskova, Cynthia Hawkins, R. Maarten Egeler, Jesper Brok, Tatiana von Bahr Greenwood, Karel Svoijr, Auke Beishuizen, Jan A. M. van Laar, Ulrike Poetschger, Caroline Hutter, Elena Sieni, Milen Minkov, Oussama Abla, Tom van Wezel, Cor van den Bos, Astrid G. S. van Halteren
Summary: Langerhans cell histiocytosis (LCH) is a rare neoplastic disorder caused by somatic genetic alterations in hematopoietic precursor cells. LCH clinical manifestation is highly heterogeneous and the associations between BRAF and MAP2K1 mutations with clinical features are still not completely understood.
Article
Medicine, General & Internal
Martina Minkov, Anna Pourkarami, Peter Franz, Milen Minkov
Summary: Ranula is a cyst filled with saliva in the oral cavity, usually presenting as a hemispherical bluish cyst. The optimal treatment is still controversial, with many authors favoring surgery, but our case suggests that watch and wait approach with mechanical pressure can be effective.
WIENER MEDIZINISCHE WOCHENSCHRIFT
(2023)
Article
Otorhinolaryngology
Sebastian F. N. Bode, Hannes Rapp, Nadine Lienert, Heike Appel, Dorit Fabricius
Summary: This study aims to evaluate subjective and objective sinunasal symptoms after start of CFTR-modulator triple therapy. The results show that highly effective CFTR-modulator therapy has a significant positive impact on both subjective and objective sinunasal symptoms in patients with CF, including children.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2023)
Article
Hematology
Peter Bader, Claudia Rossig, Martin Hutter, Francis Ayuketang Ayuk, Claudia D. Baldus, Veit L. Buecklein, Halvard Bonig, Gunnar Cario, Hermann Einsele, Udo Holtick, Christian Koenecke, Shahrzad Bakhtiar, Annette Kuenkele, Roland Meisel, Fabian Mueller, Ingo Mueller, Olaf Penack, Eva Rettinger, Martin G. Sauer, Paul -Gerhardt Schlegel, Jan Soerensen, Arend von Stackelberg, Brigitte Strahm, Julia Hauer, Tobias Feuchtinger, Andrea Jarisch
Summary: This retrospective study investigated the efficacy of Tisa-cel in 81 patients with pB-ALL. The results showed that CAR T cell therapy can effectively alleviate the disease, with a 2-year survival rate of 45.3%. Importantly, patients who relapsed after 6 months post-allo-HSCT had a higher survival rate, which provides valuable information for clinical decision-making.
Letter
Biophysics
Su Han Lum, Milen Minkov, Simon A. Jones, Sheree Hazelaar, Tiarlan Sirait, Jane E. Potter, Polina Stepensky, Frederic Garban, Herbert Pichler, Jerry Stein, Zuhre Kaya, Ansgar Schulz, Karin Mellgren, Cristina Diaz de Heredia, Cecile Pochon, Susana Riesco, Miguel Angel Diaz, Gerard Michel, Caroline Lindemans, Bernd Gruhn, Michael H. Albert, Arjan C. Lankester, Benedicte Neven, Robert Wynn
BONE MARROW TRANSPLANTATION
(2023)
Article
Genetics & Heredity
Leora Witkowski, Kim E. Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R. de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L. Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E. Plon, William D. Foulkes
Summary: Heterozygous germline pathogenic variants in the SMARCA4 gene can predispose to several rare tumour types, including neuroblastoma. These findings suggest that neuroblastoma should be included in the spectrum of SMARCA4-associated tumours.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Margaret B. B. Nagel, Melissa R. R. Perrino, Regina Nuccio, Alise K. K. Blake, Lynn Harrison, Kim E. E. Nichols, Alberto S. S. Pappo
Summary: In this retrospective study, the prevalence and spectrum of germline variants in cancer predisposition genes were examined in 38 children and young adults with melanocytic lesions at St. Jude Children's Research Hospital. The study found that 15.8% of patients had pathogenic germline variants, including various genetic mutations in genes such as PMS2, TP53, BRIP1, ATM, and AXIN2.
PEDIATRIC BLOOD & CANCER
(2023)
Editorial Material
Hematology
Lauren K. Meyer, Kim E. Nichols
Summary: In this article, the authors present a novel in vitro approach to study germline variants in genes associated with familial hemophagocytic lymphohistiocytosis (fHLH). This method enables the analysis of variants of uncertain significance (VUS) and provides insights into their functional consequences.
Article
Biochemistry & Molecular Biology
Anne Kruchen, Pascal-David Johann, Laura Rekowski, Ingo Mueller
Summary: Mesenchymal stromal cells (MSC) play a crucial role in maintaining the homeostasis of hematopoietic stem cells and regulating immune effector cells. However, they may also protect malignant cells from therapeutic drugs and immune effector cells. Modulating these mechanisms could potentially enhance therapeutic efficacy.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)