Because the biologic behaviors of GISTs differ according to the location of the tumor, a more stratified strategy is required for managing EGISTs including incorporation of molecular features.

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While no significant difference in OS was observed between EGFR exon 19 deletion and L858R mutation, EGFR exon 19 deletion was predictive of longer PFS following EGFR TKI treatment in patients with advanced NSCLC.

Hematopoietic stem cell transplantation (HSCT) recipients frequently develop opportunistic infections, including paranasal sinusitis. Paranasal sinusitis in post-transplant recipients can be complicated by life-threatening infections. Accordingly, we analyzed risk factors for development of paranasal sinusitis following HSCT and reviewed our experiences for analysis of the role of management of paranasal sinusitis prior to HSCT. A retrospective review was performed for patients who had received HSCT at Samsung Medical Center (Seoul, South Korea) from 1996 to 2003. A total of 252 patients were analyzed. While 23 patients (9.1%) had sinusitis prior to HSCT, its occurrence rate increased to 15.9% after HSCT. Patients with pre-HSCT sinusitis showed a high occurrence rate of post-HSCT sinusitis (34.8 vs. 14.0%, p = 0.015). However, when pre-HSCT radiological abnormality alone was compared to no evidence of sinusitis prior to HSCT, there was no significant difference in the occurrence rates of post-HSCT sinusitis (15.6 vs. 12.8%, p = 0.541). Although statistical significance was not demonstrated, the occurrence rate of post-HSCT sinusitis was relatively low in patients who received autologous HSCT compared to those who received allogeneic HSCT (11.3 vs. 20.3%, p = 0.060). Use of total body irradiation and presence of graft-versus-host disease did not correlate with development of post-HSCT sinusitis. Compared to the observation group, occurrence of post-HSCT sinusitis showed a slight reduction with medical or surgical intervention targeting radiological abnormalities of the paranasal sinuses (10.0 vs. 25.0%, p = 0.057). In conclusion, pre-HSCT sinusitis and allogeneic HSCT are associated with development of post-HSCT sinusitis. Although asymptomatic radiological abnormalities of the sinus do not increase the risk of post-HSCT sinusitis, optimal treatment prior to HSCT tends to decrease the risk of post-HSCT sinusitis.

Background Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complicated and difficult to implement. In the present study, we investigated the patterns of genetic variation associated with HS among patients clinically diagnosed with HS. Methods Multi-gene targeted sequencing of 43 genes (17 RBC membrane protein-encoding genes, 20 RBC enzyme-encoding genes, and six additional genes for the differential diagnosis) was performed using the Illumina HiSeq platform. Results Among 59 patients with HS, 50 (84.7%) had one or more significant variants in a RBC membrane protein-encoding genes. A total of 54 significant variants including 46 novel mutations were detected in six RBC membrane protein-encoding genes, with the highest number of variants found in SPTB ( n = 28), and followed by ANK1 ( n = 19), SLC4A1 ( n = 3), SPTA1 ( n = 2), EPB41 ( n = 1), and EPB42 ( n = 1). Concurrent mutations of genes encoding RBC enzymes ( ALDOB, GAPDH, and GSR ) were detected in three patients. UGT1A1 mutations were present in 24 patients (40.7%). Positive rate of osmotic fragility test was 86.8% among patients harboring HS-related gene mutations. Conclusions This constitutes the first large-scaled genetic study of Korean patients with HS. We demonstrated that multi-gene target sequencing is sensitive and feasible that can be used as a powerful tool for diagnosing HS. Considering the discrepancies of clinical and molecular diagnoses of HS, our findings suggest that molecular genetic analysis is required for accurate diagnosis of HS. Electronic supplementary material The online version of this article (10.1186/s13023-019-1070-0) contains supplementary material, which is available to authorized users.

BackgroundIdiopathic thrombocytopenic purpura (ITP) is a condition that often develops in young women and, consequently, physicians should frequently manage and monitor pregnant patients with this disorder.MethodsWe reviewed the charts of 30 women with chronic ITP delivered in 31 pregnancies from January 1995 to December 2003.ResultsFifteen patients were diagnosed with ITP before pregnancy and sixteen patients were diagnosed during pregnancy. The mean platelet counts before pregnancy, during pregnancy, and at delivery were 70,040/mm3, 83,960/mm3, and 62,680/mm3, respectively. The symptoms of hemostatic impairment were not noted in most of the pregnancies (77%, 24/31). During pregnancy and at delivery, most of the women (61%, 19/31) received various kinds of treatment to raise platelet counts. At delivery, the most commonly used therapy was platelet transfusion (48.4%, 15/31). Seven pregnancies (22.6%) were treated with corticosteroids during pregnancy and at delivery. Five pregnancies (16.1%) were treated with IV IgG during pregnancy and at delivery. Fifteen deliveries (51.7%) were performed by cesarean section and fourteen (48.3%) with vaginal delivery. Bleeding was uncommon at delivery. There were no cases of infants with any clinical signs of hemorrhage.ConclusionOur current results suggest that ITP in pregnancy can proceed safely with low hemorrhagic risk in both infants and mothers, and that mothers with ITP can deliver healthy infants without serious hemorrhagic complications

BACKGROUND: Gefitinib and erlotinib are commonly used for salvage therapy in patients with nonsmall cell lung cancer (NSCLC) who have progressed on prior therapies. Although both agents have similar structure and have demonstrated efficacy in NSCLC, gefitinib and erlotinib have not been directly compared in terms of efficacy and other clinical outcomes in patients with NSCLC who have failed prior chemotherapy. This prompted us to analyze the clinical outcomes between gefitinib-treated and erlotinib-treated patients with metastatic or recurrent NSCLC. METHODS: A total of 467 patients with metastatic or recurrent NSCLC who had progressed on prior therapies and received gefitinib or erlotinib therapy between January 2006 and December 2008 were retrospectively reviewed. By using a matched-pair case-control study design, 171 pairs of gefitinib-treated and erlotinib-treated patients were matched according to sex, Eastern Cooperative Oncology Group (ECOG) performance status, histologic type, and smoking history. RESULTS: The median age of all patients was 58 years (range, 20-85 years), and the median ECOG performance status was 1 (range, 0-3). Of 342 patients, 294 (86%) received an epidermal growth factor receptor (EGFR) tyrosine kinase (TK) inhibitor as second-line or third-line therapy, whereas the remaining 14% had received >2 prior chemotherapy regimens before starting EGFR TK inhibitor therapy. The confirmed overall response rate was 35.1%, and the disease control rate was 64%. With 13.2 months of follow-up, the median overall survival (OS) for the total 342 patients was 12.4 months (95% confidence interval [95% CI], 10.66-14.14 months), and the median progression-free survival (PFS) was 3.2 months (95% CI, 2.65-3.75 months). The overall response rates and disease control rates in the gefitinib-treated and erlotinib-treated groups were 38% versus 32.2% (P ¼.273) and 63.2% versus 64.9%, respectively (P ¼.677). There was no statistically significant difference noted with regard to OS (median, 12.6 vs 12.1 months; P ¼ 0.99) and PFS (median, 4.6 vs 2.7 months; P ¼.06) between the gefitinib-treated and erlotinib-treated groups. CONCLUSIONS: This retrospective analysis shows that gefitinib and erlotinib appear to have similar antitumor activity in terms of response rate and OS in pretreated patients with metastatic or recurrent NSCLC. Further prospective studies are warranted to elucidate any potential differences in toxicity and in dose intensity between gefitiniband erlotinib-treated patients. Cancer 2010;116:3025-33.

. Chloroquine enhances the chemotherapeutic activity of 5-fluorouracil in a colon cancer cell line via cell cycle alteration. APMIS 2012; 120: 597-604.Autophagy is a conserved catabolic process that degrades cytoplasmic proteins and organelles for recycling. The role of autophagy in tumorigenesis is controversial because autophagy can be either protective or damaging to tumor cells, and its effects may change during tumor progression. A number of cancer cell lines have been exposed to chloroquine, an anti-malarial drug, with the aim of inhibiting cell growth and inducing cell death. In addition, chloroquine inhibits a late phase of autophagy. This study was conducted to investigate the anti-cancer effect of autophagy inhibition, using chloroquine together with 5-fluorouracil (5-FU) in a colon cancer cell line. Human colon cancer DLD-1 cells were treated with 5-FU (10 lΜ) or chloroquine (100 lΜ), or a combination of both. Autophagy was evaluated by western blot analysis of microtubule-associated protein light chain3 (LC3). Proliferative activity, alterations of the cell cycle, and apoptosis were measured by MTT assays, flow cytometry, and western blotting. LC3-II protein increased after treatment with 5-FU, and chloroquine potentiated the cytotoxicity of 5-FU. MTT assays showed that 5-FU inhibited proliferation of the DLD-1 cells and that chloroquine enhanced this inhibitory effect of 5-FU. The combination of 5-FU and chloroquine induced G1 arrest, up-regulation of p27 and p53, and downregulation of CDK2 and cyclin D1. These results suggest that chloroquine may potentiate the anti-cancer effect of 5-FU via cell cycle inhibition. Chloroquine potentiates the anti-cancer effect of 5-FU in colon cancer cells. Supplementation of conventional chemotherapy with chloroquine may provide a new cancer therapy modality.