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JOURNAL ARTICLE
Emma M Groarke
No abstract text is available yet for this article.
January 2024: Lancet Haematology
#22
JOURNAL ARTICLE
Ashley Alexander, Margaret Zacharin
UNLABELLED: Langerhans cell histiocytosis (LCH) is a rare proliferative disorder characterised as an inflammatory myeloid neoplasia. Endocrine manifestations of LCH, particularly central diabetes insipidus (CDI), have been described from the 1940s, through case studies and small cohort analyses. There are limited Australian paediatric data described in recent literature. AIM: To document the incidence of endocrine features in paediatric patients with LCH, treated at a tertiary paediatric centre in Victoria, Australia...
November 29, 2023: Journal of Paediatrics and Child Health
#23
Taralynn Mack, Caitlyn Vlasschaert, Kelly von Beck, Alexander J Silver, J Brett Heimlich, Hannah Poisner, Henry Robert Condon, Jessica Ulloa, Andrew L Sochacki, Travis P Spaulding, Ashwin Kishtagari, Cosmin A Bejan, Yaomin Xu, Michael R Savona, Angela Jones, Alexander Bick
Clonal hematopoiesis of indeterminate potential (CHIP) is a common age-related phenomenon that occurs when hematopoietic stem cells acquire mutations in a select set of genes commonly mutated in myeloid neoplasia which then expand clonally. Current sequencing assays to detect CHIP are not optimized for the detection of these variants and can be cost-prohibitive when applied to large cohorts or serial sequencing. Here, we present and validate a CHIP targeted sequencing assay that is affordable (∼$8/sample), accurate and highly scalable...
November 9, 2023: medRxiv
#24
JOURNAL ARTICLE
The mortality of COVID-19 in CML patients from 2020 until 2022: results from the EPICOVIDEHA survey.
Shaimaa El-Ashwah, Jon Salmanton-García, Yavuz M Bilgin, Federico Itri, Pavel Žák, Barbora Weinbergerová, Luisa Verga, Ali S Omrani, Maria Gomes da Silva, Tomáš Szotkowski, Monia Marchetti, Caterina Buquicchio, Marcio Nucci, Martin Schönlein, Francesca Farina, Caroline Besson, Lucia Prezioso, Summiya Nizamuddin, Julio Dávila-Valls, Sonia Martín-Pérez, Valentina Bonuomo, Jaap Van Doesum, Maria Chiara Tisi, Francesco Passamonti, Gustavo-Adolfo Méndez, Stef Meers, Johan Maertens, Alberto López-García, Andreas Glenthøj, Matteo Bonnani, Ikhwan Rinaldi, Irati Ormazabal-Vélez, Jorge Labrador, Austin Kulasekararaj, Ildefonso Espigado, Fatih Demirkan, Nick De Jonge, Graham P Collins, Maria Calbacho, Ola Blennow, Murtadha Al-Khabori, Tatjana Adžić-Vukičević, Elena Arellano, Bojana Mišković, Miloš Mladenović, Anna Nordlander, Zdeněk Ráčil, Emanuele Ammatuna, Raul Cordoba, Ditte Stampe Hersby, Stefanie Gräfe, Ziad Emarah, Michaela Hanakova, Maria Vittoria Sacchi, Marriyam Ijaz, Laman Rahimli, Raquel Nunes Rodrigues, Giovanni Paolo Maria Zambrotta, Francesco Marchesi, Oliver A Cornely, Livio Pagano
Since the beginning of the COVID-19 pandemic, there has been an overall improvement in patient mortality. However, haematological malignancy patients continue to experience significant impacts from COVID-19, including high rates of hospitalization, intensive care unit (ICU) admissions, and mortality. In comparison to other haematological malignancy patients, individuals with chronic myeloid leukemia (CML) generally have better prognosis. This study, conducted using a large haematological malignancy patient database (EPICOVIDEHA), demonstrated that the majority of CML patients experienced mild infections...
November 15, 2023: Leukemia & Lymphoma
#25
JOURNAL ARTICLE
Simon N Stacey, Florian Zink, Gisli H Halldorsson, Lilja Stefansdottir, Sigurjon A Gudjonsson, Gudmundur Einarsson, Grimur Hjörleifsson, Thjodbjorg Eiriksdottir, Anna Helgadottir, Gyda Björnsdottir, Thorgeir E Thorgeirsson, Thorunn A Olafsdottir, Ingileif Jonsdottir, Solveig Gretarsdottir, Vinicius Tragante, Magnus K Magnusson, Hakon Jonsson, Julius Gudmundsson, Sigurgeir Olafsson, Hilma Holm, Daniel F Gudbjartsson, Patrick Sulem, Agnar Helgason, Unnur Thorsteinsdottir, Laufey Tryggvadottir, Thorunn Rafnar, Pall Melsted, Magnus Ö Ulfarsson, Brynjar Vidarsson, Gudmar Thorleifsson, Kari Stefansson
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of 45,510 Icelandic and 130,709 UK Biobank participants combined with a mutational barcode method, we identified 16,306 people with CH. Prevalence approaches 50% in elderly participants. Smoking demonstrates a dosage-dependent impact on risk of CH. CH associates with several smoking-related diseases. Contrary to published claims, we find no evidence that CH is associated with cardiovascular disease...
November 6, 2023: Nature Genetics
#26
JOURNAL ARTICLE
Steven M Johnson, James Haberberger, Jonathan Galeotti, Lori Ramkissoon, Catherine C Coombs, Daniel R Richardson, Matthew C Foster, Daniel Duncan, Nathan D Montgomery, Naomi L Ferguson, Joshua F Zeidner
A large-scale genomic analysis of patients with ASXL1 -mutated myeloid disease has not been performed to date. We reviewed comprehensive genomic profiling results from 6043 adults to characterize clinicopathologic features and co-mutation patterns by ASXL1 mutation status. ASXL1 mutations occurred in 1414 patients (23%). Mutation co-occurrence testing revealed strong co-occurrence ( p < 0.01) between mutations in ASXL1 and nine genes ( SRSF2, U2AF1, RUNX1, SETBP1, EZH2, STAG2, CUX1, CSF3R, CBL )...
November 3, 2023: Leukemia & Lymphoma
#27
REVIEW
Giovanni Fulvio, Chiara Baldini, Marta Mosca, Antonello di Paolo, Guido Bocci, Giuseppe Alberto Palumbo, Emma Cacciola, Paola Migliorini, Rossella Cacciola, Sara Galimberti
In this article, we reviewed the possible mechanisms linking the clonal hematopoiesis of indeterminate potential (CHIP) to chronic myeloproliferative neoplasms (MPNs), autoimmune diseases (ADs), and cardiovascular diseases (CADs). CHIP is characterized by the presence of clonal mutations with an allelic frequency >2% in the peripheral blood without dysplasia, overt hematological neoplasms, or abnormalities in blood cell count. The prevalence may reach 20% of elderly healthy individuals and is considered a risk factor for myelodysplastic neoplasms and acute leukemia...
2023: Frontiers in Medicine
#28
JOURNAL ARTICLE
R A McMahon, C D'Souza, P J Neeson, S Siva
Radiation therapy is an established and effective anti-cancer treatment modality. Extensive pre-clinical experimentation has demonstrated that the pro-inflammatory properties of irradiation may be synergistic with checkpoint immunotherapy. Radiation induces double-stranded DNA breaks (dsDNA). Sensing of the dsDNA activates the cGAS/STING pathway, producing Type 1 interferons essential to recruiting antigen-presenting cells (APCs). Radiation promotes cytotoxic CD8 T-cell recruitment by releasing tumour-associated antigens captured and cross-presented by surveying antigen-presenting cells...
October 30, 2023: Neoplasia: An International Journal for Oncology Research
#29
REVIEW
Tanner C Martinez, Megan E McNerney
Many transcription factors (TFs) function as tumor suppressor genes with heterozygous phenotypes, yet haploinsufficiency generally has an underappreciated role in neoplasia. This is no less true in myeloid cells, which are normally regulated by a delicately balanced and interconnected transcriptional network. Detailed understanding of TF dose in this circuitry sheds light on the leukemic transcriptome. In this review, we discuss the emerging features of haploinsufficient transcription factors (HITFs). We posit that: ( a ) monoallelic and biallelic losses can have distinct cellular outcomes; ( b ) the activity of a TF exists in a greater range than the traditional Mendelian genetic doses; and ( c ) how a TF is deleted or mutated impacts the cellular phenotype...
October 31, 2023: Annual Review of Pathology
#30
REVIEW
Dominik Nann, Falko Fend, Leticia Quintanilla-Martinez
T‑follicular helper (TFH) cell lymphoma (TFHL) is a lymphoma of mature T cells with phenotypic characteristics and gene expression signature of TFH cells. The lymphoma harbors recurrent mutations of RHOAG17V , IDH2R172 , TET2 and DNMT3A. Whereas RHOAG17V and IDH2R172 are almost exclusively found in this entity, TET2 and DNMT3A mutations occur in a broad variety of hematological neoplasms and are the most frequently affected genes in clonal hematopoiesis (CH). CH in humans shows a progression rate to overt hematologic neoplasia of about 0...
October 23, 2023: Pathologie (Heidelb)
#31
REVIEW
Alexa J Siddon, Olga K Weinberg
The genetic underpinnings of myeloid neoplasms are becoming increasingly well understood. The accessibility to sequencing technology, in particular next-generation sequencing (NGS), has highlighted the importance of gene mutations in myelodysplastic syndromes (MDS) in conjunction with traditional cytogenetics. With the relatively recent influx of molecular information to complement known cytogenetic abnormalities, the diagnosis, classification, and prognosis of MDS and acute myeloid leukemia (AML) have been increasingly refined, which has also led to therapeutic advancements...
December 2023: Clinics in Laboratory Medicine
#32
JOURNAL ARTICLE
Carli P Whittington, Charles W Ross, James A Ramirez, Lori Lowe, Noah Brown, Alexandra C Hristov
CONTEXT.—: Myelodysplasia cutis is an emerging concept in cutaneous neoplasia. Many of these cases were previously included under the umbrella of histiocytoid Sweet syndrome. However, with the advent of next-generation sequencing, cutaneous involvement by myelodysplastic syndrome is being increasingly recognized. OBJECTIVE.—: To review histiocytoid Sweet syndrome and myelodysplasia cutis and discuss our current understanding of these entities. Additionally, to discuss how next-generation sequencing can be applied in the evaluation of cutaneous infiltrates of immature histiocytoid cells...
October 3, 2023: Archives of Pathology & Laboratory Medicine
#33
JOURNAL ARTICLE
Catherine Mark, Soheil Meshinchi, Brooklyn Joyce, Brenda Gibson, Christine Harrison, Anke K Bergmann, Bianca F Goemans, Cornelis Jan H Pronk, Helene Lapillonne, Guy Leverger, Evangelia Antoniou, Markus Schneider, Andishe Attarbaschi, Michael Dworzak, Jan Stary, Daisuke Tomizawa, Sabine Ebert, Monika Lejman, E Anders Kolb, Kjeld Schmiegelow, Henrik Hasle, Oussama Abla
The prognostic impact of PICALM::MLLT10 status in childhood leukaemia is not well described. Ten International Berlin Frankfurt Münster-affiliated study groups and the Children's Oncology Group collaborated in this multicentre retrospective study. The presence of the PICALM::MLLT10 fusion gene was confirmed by fluorescence in situ hybridization and/or RNA sequencing at participating sites. Ninety-eight children met the study criteria. T-cell acute lymphoblastic leukaemia (T-ALL) and acute myeloid leukaemia (AML) predominated 55 (56%) and 39 (40%) patients, respectively...
September 24, 2023: British Journal of Haematology
#34
Ashwini Jambhekar, Emily E Ackerman, Berk A Alpay, Galit Lahav, Scott B Lovitch
TP53 mutation predicts adverse prognosis in many cancers, including myeloid neoplasms, but the mechanisms by which specific mutations impact disease biology, and whether they differ between disease categories, remain unknown. We analyzed TP53 mutations in four myeloid neoplasm subtypes (MDS, AML, AML with myelodysplasia-related changes (AML-MRC), and therapy-related acute myeloid leukemia (tAML)), and identified differences in mutation types, spectrum, and hotspots between disease categories and compared to solid tumors...
September 5, 2023: medRxiv
#35
Muxin Gu, Sruthi Cheloor Kovilakam, William G Dunn, Ludovica Marando, Clea Barcena, Irina Mohorianu, Alexandra Smith, Siddhartha P Kar, Margarete A Fabre, Moritz Gerstung, Catherine A Cargo, Luca Malcovati, Pedro M Quiros, George S Vassiliou
No abstract text is available yet for this article.
September 19, 2023: Nature Genetics
#36
JOURNAL ARTICLE
Xia Lu, Ang Wei, Guanyun Wang, Junye Du, Lijuan Feng, Wenxin Ou, Tianyou Wang, Wei Wang, Jixia Li, Mingyu Zhang, Rui Zhang, Jigang Yang
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare myeloid precursor cell inflammatory neoplasia, which agonizes, maims, and even kills patients. Although clinical outcomes have steadily improved over the past decades, the progression/relapse rate of LCH remains high. The purpose of this study was to evaluate the prognostic value of the pre-treatment metabolism parameters of baseline 18 F-fluorodeoxyglucose positron emission tomography/computed tomography (18 F‑FDG PET/CT) in children with LCH...
September 1, 2023: Quantitative Imaging in Medicine and Surgery
#37
JOURNAL ARTICLE
Monika Burocziova, Srdjan Grusanovic, Karolina Vanickova, Sladjana Kosanovic, Meritxell Alberich-Jorda
Acute myeloid leukemia (AML) is a malignant neoplasia of the hematopoietic system characterized by the accumulation of immature and non-functional leukemic blasts in the bone marrow and peripheral tissues. Mechanistically, the development of AML is explained by the "two-hit" theory, based on the accumulation of driver mutations that will cooperate to induce transformation. However, a significant percentage of AML patients exhibit only one driver mutation, and thus, how leukemic transformation occurs in these cases is unclear...
September 12, 2023: Experimental Hematology
#38
JOURNAL ARTICLE
Leah G Benton, Michael Edward Kallen, Jonathan L Jacobs, Isaac E McCool, Yi Ning, Vu H Duong, Rima Koka, Zeba N Singh
The classification of haematological neoplasms recently underwent revision, generating two separate schemes-the International Consensus Classification and the fifth edition of the WHO classification. The new division into separate classification systems presents challenges for haematopathologists, haematologists/oncologists and patients. While it is too early to assess the full clinical impact, we sought to identify diagnostic discordance which may arise from applying separate classification schemes in myeloid neoplasia, and particularly in the challenging category of myelodysplastic syndrome/myeloproliferative neoplasms...
September 11, 2023: Journal of Clinical Pathology
#39
JOURNAL ARTICLE
Sushma Bartaula-Brevik, Calum Leitch, Maria Hernandez-Valladares, Elise Aasebø, Frode S Berven, Frode Selheim, Annette K Brenner, Kristin Paulsen Rye, Marie Hagen, Håkon Reikvam, Emmet McCormack, Øystein Bruserud, Tor Henrik Anderson Tvedt
Vacuolar ATPase (V-ATPase) is regarded as a possible target in cancer treatment. It is expressed in primary acute myeloid leukemia cells (AML), but the expression varies between patients and is highest for patients with a favorable prognosis after intensive chemotherapy. We therefore investigated the functional effects of two V-ATPase inhibitors (bafilomycin A1, concanamycin A) for primary AML cells derived from 80 consecutive patients. The V-ATPase inhibitors showed dose-dependent antiproliferative and proapoptotic effects that varied considerably between patients...
August 25, 2023: Journal of Clinical Medicine
#40
REVIEW
Targeting apoptosis dysregulation in myeloid malignancies - The promise of a therapeutic revolution.
Enrico Santinelli, Maria Rosaria Pascale, Zhuoer Xie, Talha Badar, Maximilian F Stahl, Jan P Bewersdorf, Carmelo Gurnari, Amer M Zeidan
In recent years, the therapeutic landscape of myeloid malignancies has been completely revolutionized by the introduction of several new drugs, targeting molecular alterations or pathways crucial for leukemia cells survival. Particularly, many agents targeting apoptosis have been investigated in both pre-clinical and clinical studies. For instance, venetoclax, a pro-apoptotic agent active on BCL-2 signaling, has been successfully used in the treatment of acute myeloid leukemia (AML). The impressive results achieved in this context have made the apoptotic pathway an attractive target also in other myeloid neoplasms, translating the experience of AML...
August 29, 2023: Blood Reviews
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