Clinical Manifestations of Eosinophilic Esophagitis in Children and Adolescents: A Single-Center, Matched Case-Control Study.

PURPOSE: To examine the prevalence and clinical manifestations of eosinophilic esophagitis (EoE) in Korea children. METHODS: The study was designed as a 1:2 matching case-control study. Using information from the endoscopic database of a tertiary center, we retrospectively reviewed the medical records of patients aged 18 years or younger who underwent upper gastrointestinal endoscopy between January 2014 and December 2017. A total of 21 patients were diagnosed with EoE based on current diagnostic criteria. In addition, 42 controls with normal esophageal biopsy findings matched to each EoE case by sex, age (±1 months), and season were randomly selected during the study period. RESULTS: The mean age of EoE diagnosis was 12.1±4.0 years and the male-to-female ratio was 2:1. The proportion of allergic diseases in patients with EoE (28.6%) was higher than that in the controls (6.8%) (p=0.04). Most EoE patients tested for allergy were positive for at least one antigen, which was significantly different to the controls (88.2% vs. 47.4%, p=0.01). Characteristic endoscopic findings of EoE were noted in 19 patients (90.5%), but 2 patients (9.5%) showed normal esophageal mucosa. The clinical symptoms of EoE were improved by a proton-pump inhibitor in 10 patients (50.0%), and by an H2 blocker in 9 patients (45.0%). Only one patient (5.0%) required inhaled steroids. CONCLUSION: While EoE is rare in the Korean pediatric population, the results of this study will improve our understanding of the clinical manifestations of the disease.

Non-traumatic myositis ossificans in the lumbosacral paravertebral muscle.

Myositis ossificans (MO) is a benign condition of non-neoplastic heterotopic bone formation in the muscle or soft tissue. Trauma plays a role in the development of MO, thus, non-traumatic MO is very rare. Although MO may occur anywhere in the body, it is rarely seen in the lumbosacral paravertebral muscle (PVM). Herein, we report a case of non-traumatic MO in the lumbosacral PVM. A 42-year-old man with no history of trauma was referred to our hospital for pain in the low back, left buttock, and left thigh. On physical examination, a slightly tender, hard, and fixed mass was palpated in the left lumbosacral PVM. Computed tomography showed a calcified mass within the left lumbosacral PVM. Magnetic resonance imaging (MRI) showed heterogeneous high signal intensity in T1- and T2-weighted image, and no enhancement of the mass was found in the postcontrast T1-weighted MRI. The lack of typical imaging features required an open biopsy, and MO was confirmed. MO should be considered in the differential diagnosis when the imaging findings show a mass involving PVM. When it is difficult to distinguish MO from soft tissue or bone malignancy by radiology, it is necessary to perform a biopsy to confirm the diagnosis.

Secondary syphilis presenting as a generalized lymphadenopathy: clinical mimicry of malignant lymphoma.

The diagnosis of syphilis remains challenging. The absence of classical features of the disease, such as the rash of secondary syphilis or genital lesion, may pose diagnostic difficulties. In this article, we report a case of secondary syphilis in which the clinical syndrome and pattern of fluorodeoxyglucose uptake mimicked malignant lymphoma. This case highlights the importance of thorough history taking including sexual contact. Clinicians should be alert for syphilis-underlying unexplained lymphadenopathy, even in the absence of typical rash or genital lesion.

A case of hypersensitivity to mosquito bites without peripheral natural killer cell lymphocytosis in a 6-year-old Korean boy.

Hypersensitivity to mosquito bites (HMB) is a rare disease characterized by intense skin reactions such as bulla and necrotic ulcerations at bite sites, accompanied by general symptoms such as high-grade fever and malaise occurred after mosquito bites. It has been suggested that HMB is associated with chronic Epstein-Barr virus (EBV) infection and natural killer (NK) cell leukemia/lymphoma. We describe here a Korean child who presented with 3-yr history of HMB without natural killer cell lymphocytosis. He has been ill for 6 yr with HMB. Close observation and examination for the development of lymphoproliferative status or hematologic malignant disorders is needed.

Prevalence of the CTNNB1 mutation genotype in surgically resected fibromatosis of the breast.

AIMS: To investigate CTNNB1 mutation and ß-catenin expression in resected breast fibromatosis and to identify potential molecular markers of fibromatosis of the breast. METHODS AND RESULTS: We selected 12 patients with fibromatosis of the breast who underwent surgical resection and were confirmed by histological examination. Ultrasonography findings for 10 patients were reviewed and only two cases were suspicious for fibromatosis on imaging. On core needle biopsy for pre-operative diagnoses, only three cases were histologically suspicious for fibromatosis. Mutations in exon 3 of CTNNB1 were detected by direct DNA sequencing in nine (75.0%) cases: all were c.121G>A (p.T41A), which was much more frequent in breast fibromatoses than in other soft tissue lesions. Nuclear ß-catenin expression was observed in all cases and the level of expression was higher in cases with mutation. In eight of nine cases, the matched biopsy specimen showed the same CTNNB1 mutation status as the pre-operative specimen. CONCLUSIONS: In the majority of cases, clinical presentation and breast imaging are highly suspicious for carcinoma. Definitive pre-operative pathological diagnosis by core needle biopsy is difficult. CTNNB1 mutation and nuclear ß-catenin expression are frequently detected in sporadic breast fibromatoses, suggesting their potential as a useful tool to distinguish breast fibromatoses from other neoplasms.

Micropapillary carcinoma of stomach: a clinicopathologic and immunohistochemical study of 11 cases.

Micropapillary carcinoma (MPC) of the stomach is a rare, newly recognized entity, and only 2 patients with this histology have been reported. We investigated clinicopathologic features, expression of mucin (MUC2, MUC5AC, MUC6, CD10) and cytokeratin profiles (CK7 and CK20), epidermal growth factor receptors (EGFR and HER2), prognostic markers (p53 and Ki-67), and outcomes in 11 MPCs of the stomach. The proportion of MPC component ranged from 5% to 70%. Micropapillary features were often found at the deep advancing edge of the tumor. Endolymphatic tumor emboli were found in 10 cases (91%) and lymph node metastases were found in 4 cases (36%). In MPCs, positive expression was observed for Ki-67 (82%), CK7 (73%), EGFR (64%), p53 (64%), MUC5AC (45%), MUC6 (36%), and CK20 (27%). However, MUC2, CD10, and HER2 expression was negative in all cases. In 9 conventional adenocarcinomas and 11 papillary adenocarcinomas with multiple endolymphatic tumor emboli, used as control, positive expression was observed for Ki-67 (100%), CK7 (90%), EGFR (80%), CK20 (70%), p53 (70%), MUC5AC (70%), MUC6 (60%), MUC2 (40%), CD10 (25%), and HER2 (15%). Expression of MUC2, CK20, and the Ki-67 labeling index was significantly higher in control adenocarcinomas as compared with MPCs (P<0.05). However, there was no significant difference in other clinicopathologic features and overall patient survival. Subclassification of MPCs into 2 subgroups according to the proportion of micropapillary component (cut-off value was 20%) failed to find any significant clinicopathologic differences (P>0.05). Although MPCs in other organs show a poor prognosis, this does not seem to be true for gastric MPCs. Further larger studies are necessary to confirm our initial findings.

Expression of mitotic checkpoint proteins BUB1B and MAD2L1 in salivary duct carcinomas.

OBJECTIVE: Defects in the mitotic checkpoint lead to aneuploidy and might facilitate tumorigenesis. However, the ploidy status in salivary duct carcinoma (SDC) has been reported to play limited role in prediction of prognosis. Thus, we need more reliable markers to reflect the rapid tumor progression in SDCs. We aimed here to investigate the expression of mitotic checkpoint proteins benzimidazole 1 homolog beta (BUB1B) and mitosis arrest-deficient 2 like 1 (MAD2L1) in SDCs and to determine their possible role as surrogate prognostic markers. METHODS: We analyzed the clinical courses, pathologic findings and immunohistochemical profiles of mitotic checkpoint proteins (BUB1B and MAD2L1) in 27 pathologically confirmed SDCs. The expression status of BUB1B and MAD2L1 was compared with clinicopathologic factors and other molecular markers, such as TGF-beta, c-erb-B2, androgen receptor, vascular endothelial growth factor, and epidermal growth factor receptor, for prognostic significance. RESULTS: High BUB1B expression was detected in 25.9% of subjects, and high MAD2L1 expression was in 55.6% of subjects. However, survival analysis revealed that mitotic checkpoint expression did not have prognostic significance in SDCs, nor did the other studied markers. Rather, the clinical variable of N classification at diagnosis (in N+ status, hazard ratio 5.19, 95% CI 1.26-21.32 for disease-free survival and hazard ratio 7.18, 95% CI 1.09-46.99 for overall survival) was strongly associated with survival and prognosis based on the Cox proportional hazard model. CONCLUSIONS: Mitotic checkpoint proteins appeared to play a limited role in predicting prognosis in SDCs. Further study is required to elucidate the exact role of mitotic checkpoint proteins in SDCs.

Expression of nicotinamide N-methyltransferase in hepatocellular carcinoma is associated with poor prognosis.

BACKGROUND: Hepatocellular carcinoma (HCC) is the most common tumor in the adult liver, with high relapse and mortality rates despite diverse treatment modalities. In this study, nicotinamide N-methyltransferase (NNMT), a key enzyme in drug metabolism, was investigated as a potential prognostic factor. METHODS: Frozen tumors and non-cancerous surrounding tissues from 120 patients with primary HCC were studied. Expressions of NNMT and internal control genes were measured by real-time reverse-transcription PCR (RT-PCR). The relationship of NNMT mRNA level with clinicopathologic parameters and clinical outcome was evaluated. RESULTS: NNMT mRNA level is markedly reduced in HCCs compared to non-cancerous surrounding tissues (P < 0.0001), and NNMT expression in tumors was significantly correlated with tumor stage (P = 0.010). Moreover, stratification of patients based on tumor NNMT mRNA levels revealed that the patients who expressed higher NNMT mRNA levels tended to have a shorter overall survival (OS) time (P = 0.053) and a significantly shorter disease-free survival (DFS) time (P = 0.016). Both NNMT expression (P = 0.0096) and tumor stage (P = 0.0017) were found to be significant prognostic factors for DFS in a multivariate analysis. CONCLUSION: The results of this study indicated that NNMT gene expression is associated with tumor stage and DFS time in HCC cases. Because of the broad substrate specificity of NNMT, which could alter the efficacy and adverse effects of chemotherapy, NNMT merits further investigation regarding its role as a prognostic factor with a larger cohort of HCC patients.