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Molecular Approaches Towards the Isolation of Pediatric Cancer Predisposition Genes
Published in John T. Kemshead, Pediatric Tumors: Immunological and Molecular Markers, 2020
Cells from Rb patients may be more prone than normal cells to radiation induced mutation. Several groups have tried to investigate this possibility. Sister chromatid exchange (SCE) has been used as an index of fragility in cells from Rb patients. Whereas Wechselbaum et al.60 claimed increased SCE frequencies in fibroblasts, others61 could not repeat this observation. Recently, Sanford and colleagues have shown chromosome fragility in all Rb patients compared with normal controls.62 In their experiments, lymphocytes were subjected to radiation but only in the more sensitive G2 period of the cell cycle. This stage specificity may account for the variability seen by others. Interestingly, the same sensitivity was shown in cells from Wilms’ tumor patients.62
Oncogenes and Cancer
Published in Pimentel Enrique, Oncogenes, 2020
Increased chromosome fragility (chromosome instability) is found in several clinical syndromes associated with increased cancer risk.348 A similar fragility has been found in patients with multiple endocrine neoplasia,349 as well as in patients with sporadic unilaterial retinoblastoma.350 A possible relationship between chromosome fragility and neoplastic diseases may be anticipated if this fragility results in loss or alteration of genome segments involved in the transcriptional control of oncogenes or in deletion of tumor-suppressing genes. In general, it is interesting to look for a possible association of familial chromosome fragility at specific sites, especially those corresponding to proto-oncogene loci, and increased incidence of specific types of cancer segregating with the fragile site(s) in the same families.351
Hematopoietic stem cell transplantation for inherited bone marrow failure syndromes: alternative donor and disease-specific conditioning regimen with unmanipulated grafts
Published in Hematology, 2021
Yue Lu, Min Xiong, Rui-Juan Sun, Yan-Li Zhao, Jian-Ping Zhang, Xing-Yu Cao, De-Yan Liu, Zhi-Jie Wei, Jia-Rui Zhou, Dao-Pei Lu
The median follow-up time for survivors was 38 months (range: 9–63 months), the FFS for the entire cohort was 74.8%, and was 73.3%, 100% and 56.2% for patients with FA, DC and SCN, respectively (P = 0.173) (Figure 1). There were no differences in FFS among the MUD (71.1%), HID (76.4%) and UCB (100%) cohorts (P = 0.715). In the univariate and multivariate analyses, a positive chromosome fragility test was the only Independent adverse prognostic factor on survival outcomes for the FA patients [P = 0.022, 0.224 (HR 062–.802)] (Table 6). A total of 10 patients died. The main causes of death were GVHD in 5 patients (50%; 4 aGVHD, 1 cGVHD), central neutral system infection in 1 patient (20%), intracranial bleeding in 1 patient (10%), drug-induced encephalopathy in 1 patient (10%), secondary graft failure in 1 patient (10%) and mucor infection in the ENT site in 1 patientt (10%). There were no secondary malignancies observed after HSCT at the last follow up.
Incidence of Fanconi anaemia in phenotypically normal aplastic anaemia patients in West Bengal
Published in Hematology, 2018
Atreyee Dutta, Rajib De, Tuphan Kanti Dolai, Pritha Pal, Shanoli Ghosh, Pradip Kumar Mitra, Ajanta Halder
Few literatures have been documented from the northern India. A study on 94 AA patients of all age groups, showed 13.8% patients with FA [24], whereas another study, showed 11.3% positive for stress cytogenetics [25]. However, a larger study carried out on 300 Indian AA patients, found 9.20% patients with FA [26]. Another study revealed 7 (14%) out of 50 examined patients to have an FA cellular phenotype with increased MMC-induced chromosome fragility [27]. Again a study conducted in Delhi on 488 patients found that 64 (13.1%) patients with a significant increase in the number of breaks in comparison to their control [28]. A 14-year-old boy was presented with clinical features of AA, chromosomal breakage test using clastogenic agent MMC showed 88% stress induced chromosomal/chromatid breaks, gaps and rearrangements revealing an underlying FA [29]. But from the southern part of India, there is no such documentation. Although from the western part, there are few studies [30–32]. From eastern India, one case study has been documented on FA with the incidental haemoglobin E trait [33]. The differences in the percentage affected by FA may be due to the different number of cases participated in these studies. Above-mentioned studies considered both kinds of AA patients, irrespective of their phenotypical condition for stress cytogenetics. But in our study, we tried to find the frequency of FA in phenotypically normal AA patients in West Bengal. This is the unique perspective of our study.
GDF11 is increased in patients with aplastic anemia
Published in Hematology, 2019
Xifeng Dong, Yu Han, Iruni Roshanie Abeysekera, Zonghong Shao, Huaquan Wang
Seventy-nine patients with AA diagnosed in our center were enrolled in this study from September 2014 to June 2017, including 29 newly diagnosed patients (untreated) and 50 post- IST patients. There were 48 males and 31 females, and the median age was 31 (range, 12–74) years. According to the International AA Study Group Criteria [8], the disease was considered severe if at least two of the following parameters were met: Neutrophil count <0.5 × 109/L, platelet count <20 × 109/L and reticulocyte count <20 × 109/L with hypocellular bone marrow. Very severe aplastic anemia (VSAA) was diagnosed in cases of SAA patients with a neutrophil count <0.2 × 109/L. Patients presenting with congenital AA (with chromosome fragility test) were excluded from the study. All patients were screened for paroxysmal nocturnal hemoglobinuria using anti-CD55 and anti-CD59 antibodies through the use of flow cytometry. This study included 19 patients with VSAA, 32 with SAA and 28 non severe aplastic anemia (NSAA). A complete response (CR) was defined when all of the following three criteria have been met: neutrophils counts >2.0 × 109/L; hemoglobin >110 g /L; and platelet counts >100 × 109/L. A partial response (PR) was defined as an improvement in blood counts that no longer satisfy the criteria for SAA, but are not sufficient enough to meet criteria for CR [9]. The remission patients included both CR and PR patients. All AA patients had normal renal function. The characteristics of the patients with AA are shown in Table 1. Thirty healthy blood donors were selected as controls; this included 19 men and 11 women, with a median age of 29.5 (range, 18-77) years. This study was approved by the Ethics Committee of our school. Informed written consent was obtained from all patients or their guardians in accordance with the Declaration of Helsinki.