Pediatric differentiated thyroid cancers (DTCs), mostly papillary thyroid cancer (PTC, 80-90%), are diagnosed at more advanced stages with larger tumor sizes and higher rates of locoregional and/or lung metastasis. Despite the higher recurrence rates of pediatric cancers than of adult thyroid cancers, pediatric patients demonstrate a lower mortality rate and more favorable prognosis. Considering the more advanced stage at diagnosis in pediatric patients, preoperative evaluation is crucial to determine the extent of surgery required. Furthermore, if hereditary tumor syndrome is suspected, genetic testing is required. Recommendations for pediatric DTCs focus on the surgical principles, radioiodine therapy according to the postoperative risk level, treatment and follow-up of recurrent or persistent diseases, and treatment of patients with radioiodine-refractory PTCs on the basis of genetic drivers that are unique to pediatric patients.

Differentiated thyroid cancer demonstrates a wide range of clinical presentations, from very indolent cases to those with an aggressive prognosis. Therefore, diagnosing and treating each cancer appropriately based on its risk status is important. The Korean Thyroid Association (KTA) has provided and amended the clinical guidelines for thyroid cancer management since 2007. The main changes in this revised 2024 guideline include 1) individualization of surgical extent according to pathological tests and clinical findings, 2) application of active surveillance in low-risk papillary thyroid microcarcinoma, 3) indications for minimally invasive surgery, 4) adoption of World Health Organization pathological diagnostic criteria and definition of terminology in Korean, 5) update on literature evidence of recurrence risk for initial risk stratification, 6) addition of the role of molecular testing, 7) addition of definition of initial risk stratification and targeting thyroid stimulating hormone (TSH) concentrations according to ongoing risk stratification (ORS), 8) addition of treatment of perioperative hypoparathyroidism, 9) update on systemic chemotherapy, and 10) addition of treatment for pediatric patients with thyroid cancer.

BACKGROUND: Epigenetic modulation of gene expression occurs by various methods, including DNA methylation and histone modification. DNA methylation of specific genes may affect the chromatin structure, preventing access by the transcriptional machinery. Although gene expression is dramatically changed during keratinocyte differentiation, there is no evidence of epigenetic modulation during the process of epidermal stratification. OBJECTIVE: We investigated whether epigenetic modulation is involved in keratinocyte differentiation-specific gene regulation. METHODS: We used trypsin to produce epidermal fragmentation (named T1-T4) and performed a morphological analysis using hematoxylin-eosin stain and cytokeratin expression based on reverse transcription polymerase chain reaction. We then constructed a DNA methylation microarray. RESULTS: Each epidermal fragment showed morphological features of the epithelial layer. T1 represented the basal layer, T2 was the spinous layer, T3 was the granular layer, and T4 was the cornified layer. The level of the K14 proliferation marker was increased in the T1 fraction, and the level of K10 differentiation marker was increased in the T2-T4 fractions. Using a methylation microarray with the T1 and T4 fractions, we obtained many hypermethylated and hypomethylated genes from differentiated keratinocytes. CONCLUSION: The importance of epigenetic modulation in target gene expression during keratinocyte differentiation is identified.
Cell Differentiation ; Chromatin ; DNA Methylation ; Epigenomics ; Gene Expression ; Histones ; Keratinocytes ; Keratins ; Methylation ; Polymerase Chain Reaction ; Reverse Transcription ; Trypsin

BACKGROUND: Diamond Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that is usually symptomatic in early infancy. The purpose of this study was to assess nationwide experiences of DBA encountered over a period of 20 years. METHODS: The medical records of 56 patients diagnosed with DBA were retrospectively reviewed from November 1984 to July 2010. Fifteen institutions, including 13 university hospitals, participated in this study. RESULTS: The male-to-female ratio of patients with DBA was 1.67:1. The median age of diagnosis was 4 months, and 74.1% were diagnosed before 1 year of age. From 2000 to 2009, annual incidence was 6.6 cases per million. Excluding growth retardation, 38.2% showed congenital defects: thumb deformities, ptosis, coarctation of aorta, ventricular septal defect, strabismus, etc. The mean hemoglobin concentration was 5.1+/-1.9 g/dL, mean corpuscular volume was 93.4+/-11.6 fL, and mean number of reticulocytes was 19,700/mm3. The mean cellularity of bone marrow was 75%, with myeloid:erythroid ratio of 20.4:1. After remission, 48.9% of patients did not need further steroids. Five patients with DBA who received hematopoietic transplantation have survived. Cancer developed in 2 cases (3.6%). CONCLUSION: The incidence of DBA is similar to data already published, but our study had a male predilection. Although all patients responded to initial treatment with steroids, about half needed further steroids after remission. It is necessary to collect further data, including information regarding management pathways, from nationwide DBA registries, along with data on molecular analyses.
Anemia ; Anemia, Diamond-Blackfan ; Aortic Coarctation ; Bone Marrow ; Congenital Abnormalities ; Diamond ; Erythrocyte Indices ; Heart Septal Defects, Ventricular ; Hemoglobins ; Hospitals, University ; Humans ; Incidence ; Korea ; Male ; Medical Records ; Registries ; Reticulocytes ; Retrospective Studies ; Steroids ; Strabismus ; Thumb ; Transplants

During a search for keratinocyte differentiation-related genes, we obtained a cDNA fragment from the 5'-untranslated region of a previously identified splicing variant of desmoglein 3 (Dg3). This transcript encodes a protein of 282 amino acids, which corresponds to the N-terminal truncated intracellular domain of Dg3 (Delta NDg3). Northern blot analysis detected a 4.6-kb transcript matching the predicted size of Delta NDg3 mRNA, and Western blot analysis with an antibody raised against the Dg3 C-terminus (H-145) detected a 31-kDa protein. Increased Delta NDg3 expression was observed in differentiating keratinocytes by RT-PCR and Western blot analysis, suggesting that Delta NDg3 is indeed a differentiation-related gene product. In immunohistochemical studies of normal and pathologic tissues, H-145 antibody detected the protein in the cytoplasm of suprabasal layer cells, whereas an antibody directed against the N-terminal region of Dg3 (AF1720) reacted with a membrane protein in the basal layer. In addition, Delta NDg3 transcript and protein were upregulated in psoriatic epidermis, and protein expression appeared to increase in epidermal tumors including Bowen's disease and squamous cell carcinoma. Moreover, overexpression of Delta NDg3 led to increased migration and weakening of cell adhesion. These results suggest that Delta NDg3 have a role in keratinocyte differentiation, and that may be related with tumorigenesis of epithelial origin.
Cell Adhesion ; *Cell Differentiation ; Cell Movement ; Cells, Cultured ; Desmoglein 3/*genetics/*metabolism ; Epidermis/cytology ; Gene Expression ; Humans ; Keratinocytes/*cytology ; Skin Diseases/genetics/metabolism ; gamma Catenin/metabolism

The amniotic band syndrome is a collection of fetal malformations associated with fibrous band that appears to entangle or entrap various fetal part, in utero, leading to deformation, malformation or disruption. Its pathogenesis has been debated in the literature for many years. The associated anomalies vary from minor limb anomalies to major craniofacial defects and visceral defects. We experienced a case of limb anomalies due to amniotic band and present the findings with a brief review of literature.
Amniotic Band Syndrome ; Extremities ; Infant, Newborn

Dermal melanocytosis is histologically characterized by the presence of ectopic melanocytes in the dermis. Mongolian spots, nevus of Ota, nevus of Ito and blue nevus are the most common types and these are usually present at birth or in early childhood. However, it has been reported that several types of dermal melanocytosis could appear in adult life. We report here on an unusual case of acquired dermal melanocytosis occurring in a 51 year-old female. She had bilaterall brownish or slate-bluish pigmented patches on the face and the posterior auricular, supraclavicular, scapular and back areas. The skin biopsy specimen taken from the upper back revealed scattered, darkly pigmented, spindle-shaped cells and dendritic cells containing abundant golden brown pigment in the dermis.
Adult ; Biopsy ; Dendritic Cells ; Dermis ; Female ; Humans ; Melanocytes ; Mongolian Spot ; Nevus ; Nevus of Ota ; Nevus, Blue ; Parturition ; Skin

OBJECTIVE: To assess the fetal loss rate among dichorionic twin gestations undergoing genetic amniocentesis compared with singletons undergoing the procedure and untested twins. METHODS: From January 2002 through December 2004, total 132 pregnant women with dichorionic twin gestation with mid-trimester amniocentesis at Hospital were included in this study. In control group, 595 women with untested dichorionic twins during the same period and 402 women with singleton pregnancies with amniocentesis performed by the same physician at the same date of study group were selected. Excluded were fetuses with known structural anomalies, cases in which amniocentesis was done in only one fetus, and cases of which pregnancies were terminated due to fetal chromosomal abnormalities. Fetal loss was defined as the loss of both fetuses and subdivided into two categories: within 4 weeks after amniocentesis and before 28 gestational weeks. RESULTS: Up to 4 weeks after the procedure, one case (0.75%) in the tested twin group, two cases in post-procedure singleton group (0.49%, P=.729), and eight cases in the untested twin control group (1.34%, P=.581) were aborted spontaneously. Up to 28 gestational weeks, four fetal losses occurred in post-amniocentesis twins (3.03%), sixteen cases in untested twins (2.69%, P=.83), and two cases in the singleton pregnancies with amniocentesis (0.49%, P=.017). CONCLUSION: The risk of fetal loss in twin underwent mid-trimester amniocentesis appears to be higher than that of tested singletons in this study. However, there was no significant difference in the fetal loss rates between amniocentesis twin group and untested twin group.
Amniocentesis* ; Chromosome Aberrations ; Female ; Fetus ; Humans ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnancy, Twin* ; Pregnant Women

OBJECTIVE: Uterine papillary serous carcinoma (UPSC) has been recognized as an aggressive tumor characterized by deep myometrial invasion and reported high recurrence and low survival rates. METHODS: We retrospectively investigated the clinicopathologic findings and analyzed the survival rate and prognostic factors in 25 patients with UPSC who were surgically staged at the oncology department between January 1994 and December 2003. RESULTS: The mean age of the cases was 55.8 (range: 45-69) years. The most frequent presenting symptom was abnormal uterine bleeding (88%). According to FIGO staging, seven of the cases were stage I, six of the cases were stage II, eleven of the cases were stage III, and one case was stage IV. Mean follow up period is 42.7 months (range: 9-123 months). Overall survival rate was 80 percent. The recurrence was seen in 5 patients (25%). CONCLUSION: Univariate analysis showed that invasion of uterine serosa, ovarian and tubal metastasis, and positive peritoneal washing cytology were significantly associated with prediction of prognosis. In multivariate analysis, tubal metastasis was an independent prognostic factor for overall survival.
Follow-Up Studies ; Humans ; Multivariate Analysis ; Neoplasm Metastasis ; Prognosis ; Recurrence ; Retrospective Studies ; Serous Membrane ; Survival Rate ; Uterine Hemorrhage

OBJECTIVE: Low-dose aspirin have been proposed to improving endometrial receptivity and pregnancy rate in COH-IVF by increasing endometrial perfusion. However, the effect of low-dose aspirin in COH-IVF could be negligible because there have been large quantity of other important factors responsible for changing endometrial perfusion accompanied by COH procedure. In contrast, in frozen-thawed embryo transfer cycles which were not accompanied by COH procedure, the effects of low-dose aspirin in endometrial blood flow seems to be more certain than in COH-IVF cycles. In this study, we analyzed the effect of low-dose aspirin treatment on implantation and pregnancy rates in patients undergoing frozen-thawed embryo transfer METHODS: From January 2003 to December 2003, total 264 cycles from 264 patients who attended infertility clinic at Samsung Cheil Hospital were enrolled in this study. All cases included in this study, embryos were frozen and thawed at the pronuclear stage and three days after incubation, at least 2 or more good quality embryos were transferred into uterus. In study group, low dose aspirin (100 mg/day) was administrated from the first or second date of menstrual day to 9 days after embryo transfer. On the other hand, control group did not take any medicine except estradiol valerate for endometrial priming. Several variables including implantation and pregnancy rates were compared in both groups. After then, each groups were stratified by endometrial thickness checked at embryo transfer (ET) day such as (28 mm versus <8 mm) and same variables above described were compared between study and control groups. RESULTS: The mean age, infertility duration, endometrial thickness at embryo transfer day and mean number of transferred embryo were not significantly different in both groups. Also, implantation rates (study group: 15.8%, control group: 20.5%) and pregnancy rate (study group: 45.1%, control group: 43.5%) were not significantly different between two groups. (p>0.05) After we analyzed same variables stratified by endometrial thickness checked at embryo transfer day, we could not found any significant difference between study and control groups. CONCLUSIONS: Low-dose aspirin treatment seems to have no advantage of improving implantation and pregnancy rates in patients undergoing frozen-thawed embryo transfer.
Aspirin* ; Embryo Transfer* ; Embryonic Structures* ; Estradiol ; Hand ; Humans ; Infertility ; Perfusion ; Pregnancy Rate* ; Pregnancy* ; Uterus