Hematopoiesis post anti-CD117 monoclonal antibody treatment in wild-type and Fanconi anemia settings
Haematologica. 2024 Apr 4. doi: 10.3324/haematol.2023.284275. Online ahead of print.ABSTRACTAnti-CD117 monoclonal antibody (mAb) agents have emerged as exciting alternative conditioning strategies to traditional genotoxic irradiation or chemotherapy conditioning for both allogeneic and autologous gene-modified hematopoietic stem cell transplantation. Further, these agents are concurrently being explored in the treatment of mast cell disorders. Despite promising results in animal models and more recently in patients, the short-term and long-term effects of these treatments have not been fully explored. We conducted rigorous...
Source: Haematologica - April 4, 2024 Category: Hematology Authors: Morgane Denis Leah Swartzrock Hana Willner Quenton R Bubb Ethan Haslett Yan Yi Chan Anzhi Chen Mark R Krampf Agnieszka D Czechowicz Source Type: research
A rare case of Fanconi anemia with Mitomycin C sensitivity: A pediatrics case report
Key Clinical MessageFanconi anemia with Mitomycin C sensitivity is a rare, complex hematological condition. Our case study emphasizes the significance of early diagnosis, appropriate genetic testing, and cautious use of chemotherapeutic agents.AbstractFanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and predisposition to cancer. Here, we present the case of a 6-year-old boy with a known diagnosis of Fanconi anemia who exhibited sensitivity to Mitomycin C. The patient had a history of recurrent blood transfusions due to anemia and was referred to our institution foll...
Source: Clinical Case Reports - March 27, 2024 Category: General Medicine Authors: Vraj Bhatt,
Sunidhi Rohatgi,
Mansi Singh Tags: CASE REPORT Source Type: research
SMARCAL1 ubiquitylation controls its association with RPA-coated ssDNA and promotes replication fork stability
by Ma ïlyn Yates, Isabelle Marois, Edlie St-Hilaire, Daryl A. Ronato, Billel Djerir, Chloé Brochu, Théo Morin, Ian Hammond-Martel, Sari Gezzar-Dandashi, Lisa Casimir, Elliot Drobetsky, Laurent Cappadocia, Jean-Yves Masson, Hugo Wurtele, Alexandre Maréchal
Impediments in replication fork progression cause genomic instability, mutagenesis, and severe pathologies. At stalled forks, RPA-coated single-stranded DNA (ssDNA) activates the ATR kinase and directs fork remodeling, 2 key early events of the replication stress response. RFWD3, a recently described Fanconi anemia (FA) ubiquitin ligase, associates with RPA and promo...
Source: PLoS Biology: Archived Table of Contents - March 19, 2024 Category: Biology Authors: Ma ïlyn Yates Source Type: research
Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency
This study first links replication stress response defects with the pathogenesis of human POI, providing a new insight into the essential roles of the FA genes in ovarian function. (Source: Human Genetics)
Source: Human Genetics - March 14, 2024 Category: Genetics & Stem Cells Source Type: research
Identification and prognostic analysis of ferroptosis ‑related gene HSPA5 to predict the progression of lung squamous cell carcinoma
In conclusion, the present study demonstrated that the expression of the ferroptosis-related gene HSPA5 may be a negative prognostic marker for LSCC.PMID:38464337 | PMC:PMC10921261 | DOI:10.3892/ol.2024.14320 (Source: Oncology Letters)
Source: Oncology Letters - March 11, 2024 Category: Cancer & Oncology Authors: Di Guo Yonghai Feng Peijie Liu Shanshan Yang Wenfei Zhao Hongyun Li Source Type: research
Umbilical Cord Blood Transplantation for Fanconi Anemia with a special focus on late complications: a Study on Behalf of Eurocord and SAAWP-EBMT
Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by a broad spectrum of morphological malformations, progressive trilineage cytopenia, multisystem defects and increased predisposition to hematological malignancies and solid tumors [1 –3]. The Fanconi core complex and its associated protein complexes are required to ensure timely DNA repair. The risk for these major events is age dependent. Approximately 75% of FA patients have birth defects. Severe bone marrow failure (BMF) develops in 70% of patients by the age of 50 years, t ypically peaking during childhood at a median age of 7 years. (So...
Source: Biology of Blood and Marrow Transplantation - March 4, 2024 Category: Hematology Authors: Hanadi Rafii, Fernanda Volt, Marc Bierings, Jean-Hugues Dalle, Mouhab Ayas, Rawad Rihani, Maura Faraci, Giuseppina de Simone, Henrik Sengeloev, Jakob Passweg, Marina Cavazzana, Regis Costello, Johan Maertens, Alessandra Biffi, Jan-Erik Johansson, Juan Mon Source Type: research
Identifying an AML Prognostic Model Using 10 Marker Genes from Single-Cell Transcriptome and Bulk Transcriptome Analysis
The objective of this study is to examine the involvement of the FANC core complex in BMF and ascertain nucleolar homeostasis-related genes by conducting transcriptome analysis on primary hematopoietic stem cells obtained from FA patients with FANCA and FANCC variants. In the present study, we analyzed scRNA-seq data obtained from both healthy donors and individuals diagnosed with FA in order to investigate the phenomenon of cell-cell communication. Through the implementation of trajectory analysis, the differentiation pathways of several progenitor cell types, such as HSC cells transitioning into LMPP, N, M, B-prog, and E...
Source: Biochemical Genetics - February 12, 2024 Category: Genetics & Stem Cells Authors: Fangyuan Zhang Xiaohua Guo Lihong Ye Shicheng Yu Source Type: research
Newly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates [BRAIN TUMOR IMAGING]
SUMMARY:
The nervous system is commonly involved in a wide range of genetic tumor-predisposition syndromes. The classification of genetic tumor syndromes has evolved during the past years; however, it has now become clear that these syndromes can be categorized into a relatively small number of major mechanisms, which form the basis of the new 5th edition of the World Health Organization book (beta online version) on genetic tumor syndromes. For the first time, the World Health Organization has also included a separate chapter on genetic tumor syndromes in the latest edition of all the multisystem tumor series, including t...
Source: American Journal of Neuroradiology - February 7, 2024 Category: Radiology Authors: Agarwal, A., Bathla, G., Soni, N., Desai, A., Ajmera, P., Rao, D., Gupta, V., Vibhute, P. Tags: BRAIN TUMOR IMAGING Source Type: research
Long-Term Follow-up of Outcomes of Hematopoietic Stem Cell Transplantation for Patients with Fanconi Anemia: A Single Center Retrospective Review
Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by defects in DNA repair. Patients often require hematopoietic stem cell transplantation (HSCT) to cure their severe bone marrow failure. Owing to the defects in DNA repair, patients with Fanconi anemia have significant morbidity with myeloablative conditioning prior to HSCT. Previous studies have reported good outcomes with reduced intensity conditioning (RIC) prior to HSCT for patients with FA. There are limited studies that compare outcomes between matched related donors and alternative donors. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Megha Thakkar, Ghadir Sasa, Saleh Bhar, John Craddock, Erin E Doherty, Anil George, Gabriela Llaurador, Erin A Morales, Baheyeldin Salem, David H.M. Steffin, Khaled Yassine, Alison Bertuch, Robert A. Krance, Caridad Martinez, Jay A. Read Tags: 400 Source Type: research
Successful Hematopoietic Cell Transplantation in Patients with Fanconi Anemia with Severe Renal Insufficiency
Hematopoietic cell transplantation (HCT), the only proven cure for the hematological manifestations of Fanconi Anemia (FA) is particularly challenging in patients with renal insufficiency. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Smitha Hosahalli Vasanna, Kristina Nelson, Qing Cao, Meera Srikanthan, Ruchi Mahajan, John E. Wagner, Margaret Macmillan Tags: 395 Source Type: research
Frequent Fanconi Anemia-Associated Liver Abnormalities before and after HSCT
Liver abnormalities in Fanconi anemia (FA)are not well characterized. We hypothesized that clinically significant liver injury (CSLI) is common in patients with FA regardless of hematopoietic stem cell transplant (HSCT) status. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Alana J. Snyder, Erica Miller, Allison O'Conner, Kathleen M. Campbell, Parinda A. Mehta, Kasiani C Myers, Stella M. Davies, Dr. Jane Koo Tags: 392 Source Type: research
Longitudinal Bone Health in Patients with Fanconi Anemia and Other Major Inherited Bone Marrow Failure Syndromes
Longitudinal bone health outcomes in patients with major inherited bone marrow failure syndromes (IBMFS) are not well characterized. We hypothesized that fracture incidence was high in patients with Fanconi Anemia, Dyskeratosis Congenita (DC), Shwachman-Diamond Syndrome (SDS) and Diamond-Blackfan Anemia (DBA). We aimed to compare these outcomes in patients who were and were not treated with hematopoietic stem cell transplant (HSCT). (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Dr. Jane Koo, Lindsey Hornung, Dr. Anthony Sabulski, Parinda A. Mehta, Jonathan C. Howell, Stella M. Davies, Kasiani C Myers Tags: 391 Source Type: research
Monoallelic Germline Pathogenic Variants in DNA Damage Repair Genes and Their Impact on Post-Hematopoietic Cell Transplantation Outcomes in Severe Aplastic Anemia
Recipients of HCT are under significant stressors that may predispose them to DNA damage and unfavorable outcomes. Patients with inherited defects in DNA damage response or repair (DDRR), such as Fanconi anemia, need special conditioning regimens to minimize toxicity. HCT outcomes in patients carrying pathogenic or likely pathogenic (P/LP) variants in DDRR genes is unknown. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Maryam Rafati, Youjin Wang, Lisa J. McReynolds, Kristine Jones, Belynda Hicks, Stephen R. Spellman, Meilun He, Yung-Tsi Bolon, Stephanie J. Lee, Sharon A. Savage, Shahinaz M. Gadalla Tags: 75 Source Type: research
