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Fanconi Anemia

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https://www.readbyqxmd.com/read/28212262/molecular-cytogenetic-approach-to-characterize-novel-and-cryptic-chromosome-abnormalities-in-childhood-myeloid-malignances-of-fanconi-anemia
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28138266/pregnancy-after-allogeneic-hematopoietic-stem-cell-transplantation-in-a-fanconi-anemia-patient
#9
Simin Atashkhoei, Solmaz Fakhari, Eissa Bilehjani, Haleh Farzin
Pregnancy in patients with Fanconi anemia (FA) is rare. However, there are reports of successful pregnancy in Fanconi patients after bone marrow transplantation (BMT, hematopoietic stem cell transplantation). We describe the case of a term pregnant woman with FA who was treated with BMT 2 years earlier. She underwent successful delivery with cesarean section using spinal anesthesia without any complications.
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28120765/-dangerous-liaisons-p53-dyskeratosis-congenita-and-fanconi-anemia
#10
Eléonore Toufektchan, Sara Jaber, Franck Toledo
No abstract text is available yet for this article.
January 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/28115275/current-knowledge-and-priorities-for-future-research-in-late-effects-after-hematopoietic-cell-transplantation-hct-for-inherited-bone-marrow-failure-syndromes-ibmfs-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international
#11
REVIEW
Andrew C Dietz, Parinda A Mehta, Adrianna Vlachos, Sharon A Savage, Dorine Bresters, Jakub Tolar, Farid Boulad, Jean Hugues Dalle, Carmem Bonfim, Josu de la Fuente, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter
Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) are three of the most common inherited bone marrow failure syndromes (IBMFS), in which the hematologic manifestations can be cured with hematopoietic cell transplantation (HCT). Later in life these patients face a variety of medical conditions which may be a manifestation of underlying disease, may be due to their pre-HCT therapy, may be due to their HCT, or may be a combination of all these elements. Very limited long-term follow-up data exist in these populations, with FA the only IBMFS that has specific published data...
January 20, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28114741/loss-of-the-transforming-growth-factor-%C3%AE-effector-%C3%AE-2-spectrin-promotes-genomic-instability
#12
Jian Chen, Vivek Shukla, Patrizia Farci, Jaclyn Andricovich, Wilma Jogunoori, Lawrence N Kwong, Lior H Katz, Kirti Shetty, Asif Rashid, Xiaoping Su, Jon White, Lei Li, Alan Yaoqi Wang, Boris Blechacz, Gottumukkala S Raju, Marta Davila, Bao-Ngoc Nguyen, John R Stroehlein, Junjie Chen, Sang Soo Kim, Heather Levin, Keigo Machida, Hidekazu Tsukamoto, Peter Michaely, Alexandros Tzatsos, Bibhuti Mishra, Richard Amdur, Lopa Mishra
: Exposure to genotoxins such as ethanol-derived acetaldehyde leads to DNA damage and liver injury and promotes the development of cancer. We report here a major role for the transforming growth factor β/mothers against decapentaplegic homolog 3 adaptor β2-Spectrin (β2SP, gene Sptbn1) in maintaining genomic stability following alcohol-induced DNA damage. β2SP supports DNA repair through β2SP-dependent activation of Fanconi anemia complementation group D2 (Fancd2), a core component of the Fanconi anemia complex...
February 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28110804/differential-role-of-base-excision-repair-proteins-in-mediating-cisplatin-cytotoxicity
#13
Akshada Sawant, Ashley M Floyd, Mohan Dangeti, Wen Lei, Robert W Sobol, Steve M Patrick
Interstrand crosslinks (ICLs) are covalent lesions formed by cisplatin. The mechanism for the processing and removal of ICLs by DNA repair proteins involves nucleotide excision repair (NER), homologous recombination (HR) and fanconi anemia (FA) pathways. In this report, we monitored the processing of a flanking uracil adjacent to a cisplatin ICL by the proteins involved in the base excision repair (BER) pathway. Using a combination of extracts, purified proteins, inhibitors, functional assays and cell culture studies, we determined the specific BER proteins required for processing a DNA substrate with a uracil adjacent to a cisplatin ICL...
January 11, 2017: DNA Repair
https://www.readbyqxmd.com/read/28103787/lessons-learned-from-two-decades-of-clinical-trial-experience-in-gene-therapy-for-fanconi-anemia
#14
Jennifer E Adair, Julian Sevilla, Cristina Díaz de Heredia, Pamela S Becker, Hans-Peter Kiem, Juan Bueren
Allogeneic hematopoietic stem cell transplant is the only curative treatment for patients with the non-malignant bone marrow failure syndrome called Fanconi anemia (FA). However, early and late complications associated with this approach underscore the need for alternative treatments. Gene therapy approaches aiming to correct the genetic defect in the patient's own hematopoietic stem cells remain the most promising strategy to overcome FA-associated bone marrow failure. Yet, despite more than two decades of clinical research, a therapeutic "success" has not yet been achieved...
January 19, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28103772/induced-pluripotency-and-gene-editing-in-fanconi-anemia
#15
Susana Navarro, Alessandra Giorgetti, Angel Raya, Jakub Tolar
Induced pluripotent stem cells (iPSCs) represent an invaluable tool in a chromosomal instability syndrome such as Fanconi anemia (FA), as they can allow study of the molecular defects underlying this disease. Many other applications, such as its use as a platform to test different methods or compounds, could also be of interest. But the greatest impact of iPSCs may be in bone marrow failure diseases, as iPSCs could represent an unlimited source of autologous cells to apply in advanced treatments such as gene therapy...
January 18, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28101210/ube2t-silencing-suppresses-proliferation-and-induces-cell-cycle-arrest-and-apoptosis-in-bladder-cancer-cells
#16
Yan Qing Gong, Ding Peng, Xiang Hui Ning, Xin Yu Yang, Xue Song Li, Li Qun Zhou, Ying Lu Guo
Ubiquitin-conjugating enzyme E2T (UBE2T), a member of the ubiquitin-conjugating E2 family in the ubiquitin-proteasome pathway, has been reported to be overexpressed in certain tumor types and to have an important role in the Fanconi anemia pathway. In the present study, the expression of UBE2T and its association with bladder cancer were investigated; to the best of our knowledge, this has not been reported previously. Immunohistochemistry and western blot analysis demonstrated that UBE2T was significantly upregulated in bladder cancer tissues and cell lines compared with adjacent normal bladder tissues and a normal human urinary tract epithelial cell line, respectively...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28098879/cytokines-inducers-and-inhibitors-modulate-mmp-2-and-mmp%C3%A2-9-secretion-by-human-fanconi-anemia-immortalized-fibroblasts
#17
M W Roomi, T Kalinovsky, M Rath, A Niedzwiecki
Acute myeloid leukemia and head and neck squamous cell carcinomas are the major causes of mortality and morbidity in Fanconi anemia (FA) patients. Matrix metalloproteinases (MMPs), particularly MMP-2 and MMP-9, have been implicated in tumor invasion and metastasis. Various cytokines, mitogens, growth factors, inducers and inhibitors control MMP activities. We investigated the roles of these in the regulation of MMP-2 and MMP-9 in human immortalized fibroblasts from FA. Human FA immortalized fibroblast cell lines FA-A:PD220 and FA-D2:PD20 were grown in minimum essential medium (MEM) supplemented with 15% fetal bovine serum (FBS) and antibiotics in 24-well tissue culture plates...
January 16, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28098815/replication-fork-protection-factors-controlling-r-loop-bypass-and-suppression
#18
REVIEW
Emily Yun-Chia Chang, Peter C Stirling
Replication-transcription conflicts have been a well-studied source of genome instability for many years and have frequently been linked to defects in RNA processing. However, recent characterization of replication fork-associated proteins has revealed that defects in fork protection can directly or indirectly stabilize R-loop structures in the genome and promote transcription-replication conflicts that lead to genome instability. Defects in essential DNA replication-associated activities like topoisomerase, or the minichromosome maintenance (MCM) helicase complex, as well as fork-associated protection factors like the Fanconi anemia pathway, both appear to mitigate transcription-replication conflicts...
January 14, 2017: Genes
https://www.readbyqxmd.com/read/28093967/anchored-lentiviral-vector-episomes-for-stem-cell-gene-therapy-in-fanconi-anemia
#19
Santhosh Chakkaramakkil Verghese, Peter Kurre
Fanconi anemia (FA) is an autosomal recessive¬, multisystem DNA repair disorder with prominent defects in hematopoietic stem cell maintenance that result in their progressive attrition and failure in early school age. Allogeneic stem cell transplantation has proved curative for patients with suitable donors. This, along with the characteristic survival advantage of phenotypically normal over non-corrected FA stem cells underscores the compelling rationale for stem cell gene therapy in FA. While integrating lentiviral vectors (LV) have become the preferred platform for genetic correction in several hematologic and immunodeficiency disorders, the residual oncogenic potential by these vectors raises concerns in FA stem cells with potentially preexisting genetic lesions...
January 13, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28067886/dose-adapted-post-transplant-cyclophosphamide-for-hla-haploidentical-transplantation-in-fanconi-anemia
#20
M S Thakar, C Bonfim, M C Walters, R Storb, R Pasquini, L Burroughs, B M Sandmaier, A Woolfrey, H-P Kiem
We developed a haploidentical transplantation protocol with post-transplant cyclophosphamide (CY) for in vivo T-cell depletion (TCD) using a novel adapted-dosing schedule (25 mg/kg on days +3 and +4) for Fanconi anemia (FA). With median follow-up of 3 years (range, 37 days to 6.2 years), all six patients engrafted. Two patients with multiple pre-transplant comorbidities died, one from sepsis and one from sepsis with associated chronic GVHD. Four patients without preexisting comorbidities and early transplant referrals are alive with 100% donor chimerism and excellent performance status...
January 9, 2017: Bone Marrow Transplantation
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