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A case of interdigitating dendritic cell sarcoma studied by wholeexome sequencing
홍기환,송소영,신원석,강근수,조준성,홍용태,한규동,문정환 한국유전학회 2018 Genes & Genomics Vol.40 No.12
Interdigitating dendritic cell sarcoma (IDCS) is an aggressive neoplasm and is an extremely rare disease, with a challenging diagnosis. Etiology of IDCS is also unknown and most studies with only case reports. In our case, immunohistochemistry showed that the tumor cells were positive for S100, CD45, and CD68, but negative for CD1a and CD21. This study aimed to investigate the causative factors of IDCS by sequencing the protein-coding regions of IDCS. We performed whole-exome sequencing with genomic DNA from blood and sarcoma tissue of the IDCS patient using the Illumina Hiseq 2500 platform. After that, we conducted Sanger sequencing for validation of sarcoma-specific variants and gene ontology analysis using DAVID bioinformatics resources. Through comparing sequencing data of sarcoma with normal blood, we obtained 15 nonsynonymous single nucleotide polymorphisms (SNPs) as sarcoma-specific variants. Although the 15 SNPs were not validated by Sanger sequencing due to tumor heterogeneity and low sensitivity of Sanger sequencing, we examined the function of the genes in which each SNP is located. Based on previous studies and gene ontology database, we found that POLQ encoding DNA polymerase theta enzyme and FNIP1 encoding tumor suppressor folliculin-interacting protein might have contributed to the IDCS. Our study provides potential causative genetic factors of IDCS and plays a role in advancing the understanding of IDCS pathogenesis.
Changes in Oral Vowel Sounds and Hyoid Bone Movement After Thyroidectomy
홍기환,양우석,박민주,오종석,한백화 대한이비인후과학회 2017 Clinical and Experimental Otorhinolaryngology Vol.10 No.2
Objectives. Voice and speech alterations after total thyroidectomy may be associated with other extralaryngeal factors, such as neck muscle dysfunction and neck scar contracture. We evaluated the acoustic characteristics of oral vowel sounds and changes in hyoid bone movement before and after thyroidectomy. Methods. Twenty-nine female patients undergoing total thyroidectomy were included. Fundamental frequencies (Fo), formants and vowel space areas were evaluated before surgery and 7 days and 3 months after surgery to acoustically analyze the oral vowel sounds. Videofluoroscopic images were taken at the same times to evaluate hyoid bone movement. Results. The Fo levels of seven vowels decreased significantly after surgery. The vowel formant changes the F1 of vowel /[e]/ decreased significantly from baseline at 3 months postoperatively, and the F3 of vowel /[i]/ decreased significantly from baseline 7 days postoperatively. The change in the vowel space area was not observed. The Y coordinate of the vowels /[i]/ and /[e]/ decreased significantly from baseline 7 days postoperatively due to changes in hyoid movement. Conclusion. The damage to the neck muscles after thyroidectomy changes in Fo, formant and hyoid bone position. These quantitative results could be used as basic data for voice management in patients who undergo thyroidectomy.