Sunghwan Shin

Sunghwan Shin, M.D., Ph.D. and Sollip Kim, M.D., Ph.D.. Ann Lab Med 2026;46:504-6. https://doi.org/10.3343/alm.2026.0461

Kiwook Jung , M.D., Hyun Jin Kim , M.D., Ph.D., Sunghwan Shin , M.D., Wookeun Lee, M.D., Jun Hyung Lee , M.D., Ph.D., Hee Sue Park , M.D., Ph.D., and Qute Choi , M.D., Ph.D.. Ann Lab Med -0001;0:. https://doi.org/10.3343/alm.2025.0200

Kyung Sun Park, M.D., Ph.D., Sunghwan Shin, M.D., Jong-Ho Park, Ph.D., Young-Eun Kim, M.D., Ph.D., Won Kyung Kwon, M.D., Min-Kyung So, M.D., Ph.D., Changhee Ha, M.D., Ph.D., Ja-Hyun Jang, M.D., Ph.D., Taeheon Lee, Ph.D., Chang-Seok Ki, M.D., Ph.D., Yoonjung Kim, M.D., Ph.D., Kyung-A Lee, M.D., Ph.D., Inho Park, Ph.D., Sejoon Lee, Ph.D., Hong-Hee Won, Ph.D., the Genetic Testing Specialists Consortium, and Jong-Won Kim, M.D., Ph.D.. Ann Lab Med -0001;0:. https://doi.org/10.3343/alm.2025.0112

Germline genetic context may play a significant role in the development and evolution of cancer, particularly in childhood cancers such as neuroblastoma. This study investigates the role of putatively functional germline variants in neuroblastoma, even if they do not directly increase disease risk. Our whole-exome sequencing analysis of 125 patients with neuroblastoma reveals a positive correlation between germline variant burden and somatic mutations. Moreover, patients with higher germline variant burden exhibit worse outcomes. Similar findings are observed in the independent neuroblastoma cohort where a higher germline variant burden correlates with a higher somatic mutational burden and a worse overall survival outcome. However, contrasting results emerge in adult-onset cancer, emphasizing the importance of germline genetics in neuroblastoma. The enrichment of putatively functional germline variants in cancer predisposition genes is borderline significant when compared to healthy populations (P = 0.077; Odds Ratio, 1.45; 95% confidence intervals, 0.94−2.21) and significantly more pronounced against adult-onset cancers (P = 0.016; Odds Ratio, 2.13; 95% confidence intervals, 1.10−3.91). Additionally, the presence of these variants proves to have prognostic significance in neuroblastoma (log-rank P < 0.001), and combining germline with clinical risk factors notably improves survival predictions.

Objectives: Few studies have reported on delta checks for tumour markers, even though these markers are often evaluated serially. Therefore, this study aimed to establish a practical delta check limit in different clinical settings for five tumour markers: alpha-fetoprotein, cancer antigen 19-9, cancer antigen 125, carcinoembryonic antigen, and prostate-specific antigen. Methods: Pairs of patients’ results (current and previous) for five tumour markers between 2020 and 2021 were retrospectively collected from three university hospitals. The data were classified into three subgroups, namely: health check-up recipient (subgroup H), outpatient (subgroup O), and inpatient (subgroup I) clinics. The check limits of delta percent change (DPC), absolute DPC (absDPC), and reference change value (RCV) for each test were determined using the development set (the first 18 months, n=179,929) and then validated and simulated by applying the validation set (the last 6 months, n=66,332). Results: The check limits of DPC and absDPC for most tests varied significantly among the subgroups. Likewise, the proportions of samples requiring further evaluation, calculated by excluding samples with both current and previous results within the reference intervals, were 0.2–2.9% (lower limit of DPC), 0.2–2.7% (upper limit of DPC), 0.3–5.6% (absDPC), and 0.8–35.3% (RCV_99.9%). Furthermore, high negative predictive values >0.99 were observed in all subgroups in the in silico simulation. Conclusions: Using real-world data, we found that DPC was the most appropriate delta-check method for tumour markers. Moreover, Delta-check limits for tumour markers should be applied based on clinical settings.

Branchiootorenal (BOR) syndrome is a rare autosomal dominant inherited disease with a prevalence of approximately 1 in 40,000 newborns. This disease is characterized by hearing loss, preauricular pits, branchial fistulas or cysts, and renal dysplasia. We discovered a case of BOR syndrome in a premature 2-week-old female infant with a gestational age of 32 weeks and two days. She and her family had major symptoms and a family history of BOR. BOR syndrome was confirmed by whole-genome sequencing and structural variant calling, which revealed an EYA1 exon 5–6 deletion. The infant had recurrent sleep and feeding cyanosis with second branchial anomalies. Via videofluoroscopic swallowing study and a modified barium swallow test, penetration into the vocal cords was observed before and during swallowing when bottle feeding. This is the first report of a preterm infant early diagnosed with BOR syndrome in which deletion margin was accurately identified by whole-genome sequencing and structural variant calling in Republic of Korea.

Eunsang Suh, M.D., Sunghwan Shin, M.D., Hee Young Ju, M.D., Keon Hee Yoo, M.D., Ph.D., Hyun-Young Kim, M.D., Duck Cho, M.D., Ph.D., Sun-Hee Kim, M.D., Ph.D., and Hee-Jin Kim, M.D., Ph.D.. Ann Lab Med 2023;43:204-7. https://doi.org/10.3343/alm.2023.43.2.204

Sunghwan Shin, Mi Ra Ryu, Won Kyung Kwon, Suhee Kim, Ja-Hyun Jang, and Jong-Won Kim. J Genet Med 2021;18:38-43. https://doi.org/10.5734/JGM.2021.18.1.38