Fanconi Anemia Complementary Group A (FANCA) Facilitates the Occurrence and Progression of Liver Hepatocellular Carcinoma
ConclusionsOur data revealed that high level of FANCA was closely associated with LIHC malignant progression, suggesting its potential utility as a diagnostic, predictive indicator, and therapeutic target. (Source: Digestive Diseases and Sciences)
Source: Digestive Diseases and Sciences - January 28, 2024 Category: Gastroenterology Source Type: research
Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers
Bull Cancer. 2024 Jan 23:S0007-4551(24)00004-3. doi: 10.1016/j.bulcan.2023.11.011. Online ahead of print.ABSTRACTThe spectrum of childhood leukemia predisposition syndromes has grown significantly over last decades. These predisposition syndromes mainly involve CEBPA, ETV6, GATA2, IKZF1, PAX5, RUNX1, SAMD9/SAMD9L, TP53, RAS-MAPK pathway, DNA mismatch repair system genes, genes associated with Fanconi anemia, and trisomy 21. The clinico-biological features leading to the suspicion of a leukemia predisposition are highly heterogeneous and require varied exploration strategies. The study of the initial characteristics of chil...
Source: Bulletin du Cancer - January 24, 2024 Category: Cancer & Oncology Authors: Marion Strullu Elie Cousin Sandrine de Montgolfier Laurene Fenwarth Nathalie Gachard Isabelle Arnoux Nicolas Duployez Sandrine Girard Audrey Guilmatre Marina Lafage Marie Loosveld Arnaud Petit Laurence Perrin Yoan Vial Paul Saultier Source Type: research
Genomic profiling of relapsed small cell lung cancer reveals potential pathways of therapeutic targets
CONCLUSIONS: Our studies first exhibited comprehensive genomic profiling of relapsed SCLC, identifying several candidate genes, and briefly analyzed the association of survival and genomic alterations. Our data from a small cohort of relapsed SCLC will benefit further exploration the potential targets or biomarkers.PMID:38249912 | PMC:PMC10797366 | DOI:10.21037/jtd-23-1657 (Source: Journal of Thoracic Disease)
Source: Journal of Thoracic Disease - January 22, 2024 Category: Respiratory Medicine Authors: Wen Ouyang Jing Yu Zihang Zeng Jun Gong Junhong Zhang Conghua Xie Source Type: research
HLA-haploidentical T-cell receptor αβT/B-cell-depleted stem cell transplantation for Fanconi anemia
Int J Hematol. 2024 Jan 16. doi: 10.1007/s12185-023-03703-x. Online ahead of print.ABSTRACTHLA-haploidentical stem cell transplantation (haplo-SCT) using post-transplant high-dose cyclophosphamide (PT-CY) is an alternative choice when a suitable donors is unavailable. However, PT-CY is difficult in patients with Fanconi anemia (FA) due to their high vulnerability to alkylating agents. For FA, we prefer haplo-SCT by T-cell receptor αβT-cell and B-cell depletion (αβT/B-depleted haplo-SCT), which can reduce the risks of PT-CY-related complications and graft-versus-host disease (GVHD). An 11-year-old boy with diagnosed FA ...
Source: International Journal of Hematology - January 16, 2024 Category: Hematology Authors: Akihiro Iguchi Toru Uchiyama Kentaro Fujimori Yoshihiro Gocho Hirotoshi Sakaguchi Takao Deguchi Daisuke Tomizawa Ken-Ichi Imadome Masafumi Onodera Kimikazu Matsumoto Source Type: research
Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child
We describe a 15-year-old Malaysian female who presented with the characteristic triad of ESCO2 spectrum disorder, with an equivocal chromosomal breakage study and normal karyotyping findings. She was initially suspected to have mosaic Fanconi anemia but whole exome sequencing (WES) showed a likely pathogenic homozygous splice variant c.955 + 2_955+5del in the ESCO2 gene. During the 15-year diagnostic odyssey, she developed type 2 diabetes mellitus, primary ovarian insufficiency, increased optic cup-to-disc ratio with tortuous vessels bilaterally, and an evolving but distinct facial and skin hypopigmentation phenotype. Of ...
Source: Frontiers in Genetics - January 15, 2024 Category: Genetics & Stem Cells Source Type: research
Fanconi anemia complementation group D2 promotes sensitivity of endometrial cancer cells to chemotherapeutic agents by inhibiting the ferroptosis pathway
Resistance can develop during treatment of advanced endometrial cancer (EC), leading to unsatisfactory results. Fanconi anemia complementation group D2 (Fancd2) has been shown to be closely related to drug res... (Source: BMC Women's Health)
Source: BMC Women's Health - January 13, 2024 Category: OBGYN Authors: Hai-Hong Lin, Wei-Hong Zeng, Hai-Kun Yang, Li-Shan Huang, Ru Pan and Nan-Xiang Lei Tags: Research Source Type: research
Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome
ConclusionsThis PS case highlights the importance of genetic testing, even in the absence of typical features. Understanding the nature of mitochondrial disorders enables treatment tailoring and counseling about the prognosis. (Source: Pediatric Nephrology)
Source: Pediatric Nephrology - December 19, 2023 Category: Urology & Nephrology Source Type: research
