Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review
We report a 4 year-old boy from non-consanguineous parents diagnosed with standard risk APL. This child had café-au-lait spots and an extra thumb remnant. Genomic sequencing revealed two PV in FANCD1/BRCA2 confirming a diagnosis of FA-D1. Chromosomal breakage studies were compatible with FA. Each parent carried one variant and had no personal history of cancer. Morphological then molecular remissions were achieved with all-trans retinoic acid and Arsenic trioxide. This patient underwent haploidentical stem cell transplant. In addition to our patient, a literature search revealed four additional patients with APL/FA, with ...
Source: Clinical Genetics - April 24, 2024 Category: Genetics & Stem Cells Authors: Claire Freycon Edith Sepulchre Vincent-Philippe Lavall ée David Mitchell Margaret L MacMillan Catherine Vezina Catherine Goudie Source Type: research
GSE205844 Modeling clonal evolution in Fanconi anemia
Contributors : Grant Rowe ; Edroaldo Lummertz da RochaSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensTranscriptomic comparison of stages of clonal evolution of Fanconi anemia modeled using induced pluripotent stem cells. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - April 17, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
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
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
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
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
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
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
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
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
