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Fanconi Anemia

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https://www.readbyqxmd.com/read/28341737/abnormal-bone-marrow-microenvironment-contributes-to-hematopoietic-dysfunction-in-fanconi-anemia
#1
Yuan Zhou, Yongzheng He, Wen Xing, Peng Zhang, Hui Shi, Shi Chen, Jun Shi, Jie Bai, Steven D Rhodes, Fengkui Zhang, Jin Yuan, Xianlin Yang, Xiaofan Zhu, Yan Li, Helmut Hanenberg, Mingjiang Xu, Kent A Robertson, Weiping Yuan, Grzegorz Nalepa, Tao Cheng, D Wade Clapp, Feng-Chun Yang
Fanconi anemia is a complex heterogeneous genetic disorder with a high incidence of bone marrow failure, clonal evolution to acute myeloid leukemia and mesenchymal-derived congenital anomalies. Increasing evidence in Fanconi anemia and other genetic disorders points towards an interdependence of skeletal and hematopoietic development, yet the impact of the marrow microenvironment in the pathogenesis of the bone marrow failure in Fanconi anemia remains unclear. Here we demonstrated that mice with double knockout of both Fancc and Fancg gene had decreased bone formation at least partially due to impaired osteoblast differentiation from mesenchymal stem/progenitor cells...
March 24, 2017: Haematologica
https://www.readbyqxmd.com/read/28315701/perspective-a-defined-role-for-multiple-fanconi-anemia-gene-products-in-dna-damage-associated-ubiquitination
#2
REVIEW
Winnie Tan, Andrew J Deans
Fanconi anemia (FA) is an inherited blood disorder that causes bone marrow failure and high predisposition to cancers. The FA pathway guards the cells' genome stability by orchestrating the repair of interstrand crosslink during S phase of the cell cycle, preventing chromosomal instability that is a key event in the bone marrow failure syndrome. Central to FA pathway is loss of mono-ubiquitinated forms of the Fanconi proteins FANCI and FANCD2, a process that is normally mediated by a "core complex" of seven other Fanconi proteins...
March 15, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28315453/defects-in-mitochondrial-energetic-function-compels-fanconi-anemia-cells-to-glycolytic-metabolism
#3
Enrico Cappelli, Paola Cuccarolo, Giorgia Stroppiana, Maurizio Miano, Roberta Bottega, Vanessa Cossu, Paolo Degan, Silvia Ravera
Energetic metabolism plays an essential role in the differentiation of haematopoietic stem cells (HSC). In Fanconi Anaemia (FA), DNA damage is accumulated during HSC differentiation, an event that is likely associated with bone marrow failure (BMF). One of the sources of the DNA damage is altered mitochondrial metabolism and an associated increment of oxidative stress. Recently, altered mitochondrial morphology and a deficit in the energetic activity in FA cells have been reported. Considering that mitochondria are the principal site of aerobic ATP production, we investigated FA metabolism in order to understand what pathways are able to compensate for this energy deficiency...
March 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28314268/clinical-significance-of-fancd2-gene-expression-and-its-association-with-tumor-progression-in-hepatocellular-carcinoma
#4
Hisateru Komatsu, Takaaki Masuda, Tomohiro Iguchi, Sho Nambara, Kuniaki Sato, Quingjang Hu, Hidenari Hirata, Shuhei Ito, Hidetoshi Eguchi, Keishi Sugimachi, Hidetoshi Eguchi, Yuichiro Doki, Masaki Mori, Koshi Mimori
BACKGROUND/AIM: Fanconi anemia complementation group D2 (FANCD2) gene is vitally involved in DNA damage responses. We investigated the clinical significance of FANCD2 expression in hepatocellular carcinoma (HCC). PATIENTS AND METHODS: FANCD2 mRNA expression of resected HCC tissues was assessed in two HCC cohorts; Our cases (n=111), and The Cancer Genome Atlas (TCGA; n=371). Gene set enrichment analysis (GSEA) was conducted using the TCGA dataset. Proliferation and invasion assays were performed using siRNAs, and the effect of inhibition of the mechanistic target of rapamycin (mTOR) pathway was evaluated...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28283722/fanconi-anemia-correlating-central-nervous-system-malformations-and-genetic-complementation-groups
#5
Benjamin A Johnson-Tesch, Rakhee S Gawande, Lei Zhang, Margaret L MacMillan, David R Nascene
BACKGROUND: Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. OBJECTIVE: To characterize the impact of genetic complementation groups on central nervous system anatomy. MATERIALS AND METHODS: Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11...
March 10, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28283014/-fungemia-and-septic-arthritis-caused-by-saprochaete-capitata-in-a-patient-with-fanconi-aplastic-anemia-a-case-report
#6
Ömür Mustafa Parkan, Mustafa Altay Atalay, Ayşe Nedret Koç, Çiğdem Pala, Gonca Aydemir, Leylagül Kaynar
Saprochaete capitata (formerly known as Blastoschizomyces capitatus, Trichosporon capitatum, Geotrichum capitatum) is a rare but emerging yeast-like fungus. It is commonly found in environmental sources and can be isolated from skin, gastrointestinal system and respiratory tract of healthy individuals as well. It mainly infects patients with hematological malignancies such as acute myeloid leukemia (AML), especially in the presence of neutropenia; and mortality rates are high in those patients. Although the data about the in vitro antifungal susceptibility are limited, it is being reported that amphotericin B and voriconazole are more effective on S...
January 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/28270494/blockade-of-deubiquitylating-enzyme-usp1-inhibits-dna-repair-and-triggers-apoptosis-in-multiple-myeloma-cells
#7
Deepika Sharma Das, Abhishek Das, Arghya Ray, Yan Song, Mehmet K Samur, Nikhil C Munshi, Dharminder Chauhan, Kenneth C Anderson
PURPOSE: The ubiquitin proteasome pathway is a validated therapeutic target in multiple myeloma (MM). Deubiquitylating enzyme USP1 participates in DNA damage response and cellular differentiation pathways. To date, the role of USP1 in MM biology is not defined. In the present study, we investigated the functional significance of USP1 in MM using genetic and biochemical approaches. EXPERIMENTAL DESIGN: To investigate the role of USP1 in myeloma, we utilized USP1 inhibitor SJB3-019A (SJB) for studies in myeloma cell lines and patient MM cells...
March 7, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28262582/a-role-for-the-base-excision-repair-enzyme-neil3-in-replication-dependent-repair-of-interstrand-dna-cross-links-derived-from-psoralen-and-abasic-sites
#8
REVIEW
Zhiyu Yang, Maryam Imani Nejad, Jacqueline Gamboa Varela, Nathan E Price, Yinsheng Wang, Kent S Gates
Interstrand DNA-DNA cross-links are highly toxic lesions that are important in medicinal chemistry, toxicology, and endogenous biology. In current models of replication-dependent repair, stalling of a replication fork activates the Fanconi anemia pathway and cross-links are "unhooked" by the action of structure-specific endonucleases such as XPF-ERCC1 that make incisions flanking the cross-link. This process generates a double-strand break, which must be subsequently repaired by homologous recombination. Recent work provided evidence for a new, incision-independent unhooking mechanism involving intrusion of a base excision repair (BER) enzyme, NEIL3, into the world of cross-link repair...
April 2017: DNA Repair
https://www.readbyqxmd.com/read/28248207/biallelic-inactivation-of-rev7-is-associated-with-fanconi-anemia
#9
Dominique Bluteau, Julien Masliah-Planchon, Connor Clairmont, Alix Rousseau, Raphael Ceccaldi, Catherine Dubois d'Enghien, Olivier Bluteau, Wendy Cuccuini, Stéphanie Gachet, Régis Peffault de Latour, Thierry Leblanc, Gérard Socié, André Baruchel, Dominique Stoppa-Lyonnet, Alan D D'Andrea, Jean Soulier
No abstract text is available yet for this article.
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28239445/maintenance-of-genome-stability-by-fanconi-anemia-proteins
#10
REVIEW
Anna Palovcak, Wenjun Liu, Fenghua Yuan, Yanbin Zhang
Persistent dysregulation of the DNA damage response and repair in cells causes genomic instability. The resulting genetic changes permit alterations in growth and proliferation observed in virtually all cancers. However, an unstable genome can serve as a double-edged sword by providing survival advantages in the ability to evade checkpoint signaling, but also creating vulnerabilities through dependency on alternative genomic maintenance factors. The Fanconi anemia pathway comprises an intricate network of DNA damage signaling and repair that are critical for protection against genomic instability...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28221265/acute-liver-failure-during-deferasirox-chelation-a-toxicity-worth-considering
#11
Nathan Menaker, Katharine Halligan, Natasha Shur, John Paige, Matthew Hickling, Anne Nepo, Lauren Weintraub
This case report details a unique case of acute, reversible liver failure in a 12-year-old male with sickle cell anemia on chronic transfusion protocol and deferasirox chelation. There is substantial literature documenting deferasirox-induced renal injury, including Fanconi syndrome, but less documentation of hepatic toxicity and few reports of hepatic failure. The case highlights the importance of close monitoring of ferritin, bilirubin, and transaminases for patients on deferasirox.
April 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28215707/hsp90-shapes-the-consequences-of-human-genetic-variation
#12
Georgios I Karras, Song Yi, Nidhi Sahni, Máté Fischer, Jenny Xie, Marc Vidal, Alan D D'Andrea, Luke Whitesell, Susan Lindquist
HSP90 acts as a protein-folding buffer that shapes the manifestations of genetic variation in model organisms. Whether HSP90 influences the consequences of mutations in humans, potentially modifying the clinical course of genetic diseases, remains unknown. By mining data for >1,500 disease-causing mutants, we found a strong correlation between reduced phenotypic severity and a dominant (HSP90 ≥ HSP70) increase in mutant engagement by HSP90. Examining the cancer predisposition syndrome Fanconi anemia in depth revealed that mutant FANCA proteins engaged predominantly by HSP70 had severely compromised function...
February 23, 2017: Cell
https://www.readbyqxmd.com/read/28212262/molecular-cytogenetic-approach-to-characterize-novel-and-cryptic-chromosome-abnormalities-in-childhood-myeloid-malignances-of-fanconi-anemia
#13
Maria L R Borges, Roberto R Capela de Matos, Bethânia D A Silva Amaral, Eliane M Soares-Ventura, Edinalva P Leite, Mariluze O D Silva, Maria T M Nogueira Cornélio, Maria L M Silva, Thomas Liehr, Terezinha D J Marques-Salles
Myeloid malignancies can be either primary or secondary, whether or not a specific cause can be determined. Fanconi anemia (FA), a rare constitutional bone marrow failure, usually presents an increased possibility of clonal evolution, due to the increase in chromosomal instability, TP53 activation, and cell death. The evolution of FA may include aplastic anemia by the progressive failure of the bone marrow and myelod neoplasias, such as acute myeloid leukemia and myelodysplastic syndrome. Chromosome abnormalities, particularly of chromosomes, 1, 3, and 7, during the aplastic phase of the disease are predictive of evolution to acute myeloid leukemia/myelodysplastic syndrome...
March 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28203135/successful-treatment-of-hepatocellular-carcinoma-complicated-by-fanconi-anemia
#14
Koji Takahashi, Eiichiro Suzuki, Masayuki Yokoyama, Masanori Inoue, Toru Wakamatsu, Tomoko Saito, Yuko Kusakabe, Sadahisa Ogasawara, Yoshihiko Ooka, Akinobu Tawada, Yuhei Nagao, Chiaki Nakaseko, Tetsuhiro Chiba
A 42-year-old woman with liver tumors was referred to our hospital. Her condition was complicated by Fanconi anemia, and she had undergone total laryngectomy 8 years ago. On admission, contrast-enhanced computed tomography revealed hypervascular tumors in the right hepatic lobe. Ultrasound-guided tumor biopsy revealed that the tumor comprised moderately differentiated hepatocellular carcinoma. Although the patient exhibited preserved liver function (Child-Pugh A), complete blood count revealed severe pancytopenia...
January 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28196964/fancd2-binds-human-papillomavirus-genomes-and-associates-with-a-distinct-set-of-dna-repair-proteins-to-regulate-viral-replication
#15
Chelsey C Spriggs, Laimonis A Laimins
The life cycle of human papillomavirus (HPV) is dependent on the differentiation state of its host cell. HPV genomes are maintained as low-copy episomes in basal epithelial cells and amplified to thousands of copies per cell in differentiated layers. Replication of high-risk HPVs requires the activation of the ataxia telangiectasia-mutated (ATM) and ATM and Rad3-related (ATR) DNA repair pathways. The Fanconi anemia (FA) pathway is a part of the DNA damage response and mediates cross talk between the ATM and ATR pathways...
February 14, 2017: MBio
https://www.readbyqxmd.com/read/28191805/ring-chromosome-may-signal-progression-of-fanconi-anemia
#16
Ream Elzain Abdelgadir, Kulthom Mohamed, Imad Fadl Elmula
BACKGROUND: Fanconi anemia (FA) is a genomic instability disorder associated with high risk of AML. Ring chromosomes are results of genomic instability and observed in many human neoplasias. The present study aimed to assess the role of ring chromosome in the progression of FA. MATERIAL AND METHODS: The study included 60 patients with provisional diagnosis of FA. A total of 5 ml of venous blood was collected and processed for complete hemogram, peripheral blood film, and breakage test...
September 2016: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28179273/radiation-free-alternative-donor-hct-for-fanconi-anemia-patients-results-from-a-prospective-multi-institutional-study
#17
Parinda A Mehta, Stella M Davies, Thomas Leemhuis, Kasiani Myers, Nancy A Kernan, Susan E Prockop, Andromachi Scaradavou, Richard J O'Reilly, David A Williams, Leslie Lehmann, Eva Guinan, David Margolis, K Scott Baker, Adam Lane, Farid Boulad
Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by chromosomal fragility, progressive marrow failure and cancer predisposition. Hematopoietic cell transplantation (HCT) is curative for FA-related marrow failure or leukemia, but both radiation exposure during transplant and graft-versus host disease (GVHD) may increase risk of later malignancies of the head and neck and anogenital area. In this study we tested a radiation-free conditioning regimen with a T-cell depleted graft to eliminate radiation exposure and minimize early as well as late toxicities of transplant...
February 8, 2017: Blood
https://www.readbyqxmd.com/read/28174693/fanconi-anemia-protein-fancd2-is-activated-by-aicar-a-modulator-of-ampk-and-cellular-energy-metabolism
#18
Min Jeong Chun, Hana Choi, Dong Wha Jun, Sunshin Kim, Yong-Nyun Kim, Soo-Youl Kim, Chang-Hun Lee
FANCD2 is a pivotal molecule in the pathogenesis of Fanconi anemia (FA), an autosomal recessive human syndrome with diverse clinical phenotypes, including cancer predisposition, short stature, and hematological abnormalities. In our previous study, we detected the functional association of FANC proteins, whose mutations are responsible for the onset of FA, with AMPK in response to DNA interstrand crosslinking lesions. Because AMPK is well known as a critical sensing molecule for cellular energy levels, we checked whether FANCD2 activation occurs after treatments affecting AMPK and/or cellular energy status...
February 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28157704/overlooked-fancd2-variant-encodes-a-promising-portent-tumor-suppressor-and-alternative-polyadenylation-contributes-to-its-expression
#19
Bing Hang, Yihang Shen, Piyan Zhang, Panneerselvam Jayabal, Raymond Che, Jun Zhang, Herbert Yu, Peiwen Fei
Fanconi Anemia (FA) complementation group D2 protein (FANCD2) is the center of the FA tumor suppressor pathway, which has become an important field of investigation in human aging and cancer. Here we report an overlooked central player in the FA pathway, FANCD2 variant 2 (FANCD2-V2), which appears to perform more potent tumor suppressor-function compared to the known variant of FANCD2, namely, FANCD2-V1. Detailed analysis of the FANCD2 gene structure indicated a proximal and distal polyadenylation site (PAS), associated with V2 and V1 transcripts accordingly...
February 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28139070/pediatric-laryngeal-carcinoma-in-a-heterozygous-carrier-of-fanconi-anemia
#20
A M D'Souza, J Mark, M Demarcantonio, D Leino, R Sisson, J I Geller
A case of invasive, keratinizing squamous cell carcinoma of the larynx in an 8-year-old female treated with laryngectomy is presented. Perinatal exposure to human papilloma virus and constitutional heterozygosity for a FANCC mutation were identified, though FANCC heterozygosity is not known to be cancer predisposing. An additional tumor-associated mutation in NOTCH1 was also identified potentially contributing to oncogenesis. This case illustrates an exceedingly rare type of cancer in the pediatric population and discusses diagnostic workup, evaluation of risk factors for head and neck cancer, and treatment options...
January 31, 2017: Pediatric Blood & Cancer
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