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Preimplantation Genetic Diagnosis for Single Gene Disorders
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Ana Cervero, Jose Antonio Martínez-Conejero, Lucía Sanz-Salvador, Claudia Gil-Sanchís, Maribel Sánchez-Piris, Laura Iñiguez Quiles
PGT for HLA typing alone is performed for acquired diseases, such as severe aplastic anemia or leukemias, or can be performed in conjunction with a single gene disorder, in order to select an embryo free of the inherited condition and HLA-matched to an existing affected child (11–13). This approach was applied for Fanconi anemia for the first time in 2001 (11) and since then has been performed for a number of different diseases affecting the hematopoietic system. Worldwide, current HLA testing on preimplantation embryos is usually performed using short tandem repeat markers (STRs), since multiple STRs throughout the HLA region allow 100% accuracy HLA-typing and detect possible recombination events (14,15).
Fanconi Anemia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Fanconi anemia a rare genetic disorder that typically manifests as congenital anomalies, progressive BMF (from thrombocytopenia or leukopenia to pancytopenia), and increased susceptibility to leukemia and solid tumors. The molecular mechanisms of FA lie in mutations in the 22 genes encoding components of the FA pathway, leading to nonfunctional FA proteins that increase sensitivity to crosslinking agents, hamper interstrand crosslink repair, and contribute to genomic instability. While observation of characteristic clinical features aids in FA diagnosis, examination of chromatid breaks induced by DNA crosslinking agents is invaluable for confirming its identity. Furthermore, use of molecular techniques allows identification of specific gene mutations, yielding genetic insights that can be exploited for improved treatment and prevention of this fatal syndrome.
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Fanconi pancytopenia and the syndrome of thrombocytopenia with absent radius (TAR) – both autosomal recessive – are important generalised syndromes to recognise and to distinguish from each other. Fanconi anaemia can be accompanied by growth retardation, microcephaly, learning disability and other congenital anomalies and can leading to aplastic anaemia and/or a variety of malignancies. The thumb is usually involved in the former but preserved in the latter.
The Impact of Pretreatment Low Body Mass Index on Cause-Specific Mortality in Patients with Squamous Cell Carcinoma of the Oral Cavity
Published in Nutrition and Cancer, 2023
Kyoko Kurioka, Shin Rin, Mitsunobu Otsuru, Tomohumi Naruse, Takumi Hasegawa, Nobuhiro Yamakawa, Shin-ichi Yamada, Eiji Hirai, Kozo Yamamoto, Michihiro Ueda, Tadaaki Kirita, Masaya Akashi, Hiroshi Kurita, Yoichi Ohiro, Masaya Okura
In this multicenter study, we analyzed patient data from nine institutions of the Japan Oral Oncology Group. This retrospective study was approved by the institutional review board of each institution. Patients with pathologically confirmed SCC of the oral cavity who underwent curative-intent treatment were eligible for the study. The exclusion criteria were as follows: (a) unavailable data on the BMI parameters before treatment, (b) insufficient clinicopathologic data, (c) distant metastasis identified during diagnosis, (d) participation in induction chemotherapy, (e) preoperative radiotherapy or chemoradiotherapy, (f) a history of treatment for any type of cancer, (g) concurrent malignancies at diagnosis, (h) Fanconi anemia diagnosis, (i) a history of organ transplantation, and (j) non-curative treatment. The study population consisted of 2,023 East Asian patients (more than 98% Japanese, 1–2% other East Asians) with SCC of the oral cavity, treated between January 1, 2001, and December 31, 2018.
Comparison of transcriptome profiles of nucleated red blood cells in cord blood between preterm and full-term neonates
Published in Hematology, 2022
Yuanyuan Han, Ling Huang, Man Zhou, Xiaoyu Tan, Shangjin Gong, Zhaojun Zhang, Tingting Jin, Xiangdong Fang, Yankai Jia, S. W. Huang
The KEGG pathway enrichment analyses revealed that the differentially expressed RNAs were linked to the Fanconi anemia pathway. Fanconi anemia is a rare autosomal recessive genetic disease characterized by congenital aplastic anemia, accompanied by multiple congenital malformations. Up to now, at least 22 pathogenic genes related to Fanconi anemia have been reported [30]. We found significantly increased expression of the Fanconi anemia genes, including FANCA, FANCC, and FANCD2, in the FF group, in which the level of HbF is lower than in the PF group. Meanwhile, high levels of HbF are often observed in patients with Fanconi anemia, with an average increase of 11.3% compared with healthy individuals [31], suggesting a direct or indirect relationship between the upregulation of Fanconi anemia genes and the downregulation of the γ-globin gene.
Germ line predisposition to myeloid malignancies appearing in adulthood
Published in Expert Review of Hematology, 2018
Martina Crysandt, Kira Brings, Fabian Beier, Christian Thiede, Tim H Brümmendorf, Edgar Jost
Fanconi anemia (FA) is inherited in an autosomal recessive fashion for all genes except for FA complementation group B (FANCB), which is X linked. Furthermore, 90% of patients affected by the disease will develop bone marrow failure before the age of 40 [53]. About 70% of individuals affected by FA show growth retardation, organ malformation (cardio-pulmonary, kidneys, eyes, ears), skin pigmentation abnormalities as well as radial ray defects and these findings often contribute to the diagnosis of FA. However, about one-third of patients with FA will not present these typically associated abnormalities and as a consequence, the diagnosis of FA in this subcohort will often only be made in adulthood and/or in association with a malignant disorder. MDS and AML are the most frequent neoplasms found in patients affected by FA who have a 600–800-fold increased risk (Table 5) [54].