Background/Aims: Biliary tract cancer (BTC) is a rare malignancy with poor prognosis. We investigated genomic determinants of clinical benefit from gemcitabine, cisplatin, and nab-paclitaxel (GAP) versus gemcitabine and cisplatin (GC) in advanced BTC. Methods: Clinical and genomic data using TruSight Oncology 500 were analyzed from patients treated with GAP (N=198) or GC (N=89) as first-line therapy. Results: With a median follow-up of 33.0 months, GAP modestly improved progression-free survival (PFS) (hazard ratio [HR] 0.764; 95% confidence interval [CI] 0.591–0.989) without significant overall survival (OS) difference compared to GC. Genomic profiling revealed frequent alterations in TP53 (35.2%), KRAS (16.4%), SMAD4 (10.5%), and TNFRSF14 (10.5%), involving RTK/RAS (44.3%), TP53 (41.8%), and PI3K (20.2%) pathways. Single-gene mutations did not predict treatment benefit. However, pathway-level analysis identified PI3K pathway activation as significantly associated with inferior PFS (HR 2.148; 95% CI 1.478–3.124) and OS (HR 2.096; 95% CI 1.413–3.109) in patients receiving GAP, an effect not observed with GC. Importantly, GAP conferred clinical benefit only in patients without PI3K pathway activation, while no survival advantage was seen in those with such alterations (Pinteraction=0.023 for PFS, Pinteraction=0.003 for OS). Similar results were obtained in the independent validation cohort treated with GAP (N=103) or GC (N=64) for BTC. Conclusions Genomic profiling using next-generation sequencing identified PI3K pathway activation as key molecular determinant that differentiates patient outcomes between GAP and GC treatments in advanced BTC.

BACKGROUND/AIMS: Presence of enhanced mural nodules, which can be visualized using computed tomography (CT), is one of high-risk stigmata in branch-duct intraductal papillary mucinous neoplasms (BD-IPMNs). Conversely, the absence of enhanced mural nodules on preoperative imaging does not exclude malignant risk. The present study aimed to investigate other morphological features as predictors of malignancy in “pure” BD-IPMNs without enhanced mural nodules on CT. METHODS: This retrospective study included 180 patients with surgically confirmed “pure” BD-IPMNs of the pancreas and no enhanced mural nodules on preoperative CT. The study was conducted at 15 tertiary referral centers throughout South Korea. Univariate and multivariate analyses were used to identify significant predictors of malignancy. RESULTS: BD-IPMNs with low-grade (n=84) or moderate-grade (n=76) dysplasia were classified as benign; those with high-grade dysplasia (n=8) or invasive carcinoma (n=12) were classified as malignant. The multivariate analysis revealed that cyst size ≥30 mm (odds ratio, 8.6; p=0.001) and main pancreatic duct diameter ≥5 mm (odds ratio, 4.1; p=0.01) were independent risk factors for malignancy in “pure” BD-IPMNs without enhanced mural nodules on CT. Endoscopic ultrasound detected enhanced mural nodules (6/82) that had been missed on CT, and two IPMNs with enhanced mural nodules were malignant. CONCLUSIONS: In patients with “pure” BD-IPMNs who have no enhanced mural nodules on CT, cyst size ≥30 mm and main pancreatic duct diameter ≥5 mm may be associated with malignancy.
Christianity ; Humans ; Korea ; Mucins* ; Multivariate Analysis ; Pancreas* ; Pancreatic Ducts ; Retrospective Studies ; Risk Factors ; Tertiary Care Centers ; Ultrasonography

A cystic parathyroid adenoma is rare. A case of primary hyperparathyroidism, with the cystic formation of a parathyroid adenoma and a severe bony lesion, is reported. A 52-year-old male was admitted due to pain in both hips and for evaluation of hypercalcemia. The plasma level of the intact parathyroid hormone(iPTH) was elevated to 1424pg/mL. Ultrasonography and the computed tomography revealed a parathyroid cyst on the left thyroid lower pole. Parathyroid scintigraphy detected a parathyroid adenoma. A radiograph showed a subperiosteal bone resorption on the phalanges, and a brown tumor(osteitis fibrosa cystica) on the femur shaft was noted. A surgical excision of the parathyroid adenoma was performed. The PTH level in the cystic fluid was increased. A histological examination confirmed a cystic parathyroid adenoma. The PTH level was normalized after the operation.
Bone Resorption ; Femur ; Hip ; Humans ; Hypercalcemia ; Hyperparathyroidism ; Hyperparathyroidism, Primary ; Male ; Middle Aged ; Osteitis Fibrosa Cystica ; Parathyroid Neoplasms* ; Plasma ; Radionuclide Imaging ; Thyroid Gland ; Ultrasonography

Sebaceous trichofolliculoma, which is a variant of trichofolliculoma, is a rare disease that clinically show a centrally depressed lesion usually singly on the nose, and histologically a centrally located cavity, lined by squamous epithelium, with numerous sebaceous lobules connected to them. We describe a case of sebaceous trichofolliculoma in a 27-year-old woman who had several brown papules on the nose. We think that this is the first report of sebaceous trichofolliculloma in Korean literature.
Adult ; Epithelium ; Female ; Humans ; Nose ; Rare Diseases

We report a case of a tick bite by Ixodes nipponensis found on the neck of a 75-year-old female. The tick was thought to be in the lesion for 10 days. Till now 31 cases of tick bites were reported in Korea including the present case. The review of the Korean cases revealed that the ratio of female/male was 1.3 : 1, its age distribution was from 1st to 8th decade, sites of the invasion were trunk, head and neck, extremities, and anogenital area in order of frequency. Its prevalent season was spring and summer and the most common species(17/31) was Ixodes nipponensis.
Age Distribution ; Aged ; Extremities ; Female ; Head ; Humans ; Ixodes ; Korea ; Neck ; Seasons ; Tick Bites* ; Ticks*

Merkel cell carcinoma is a rapidly growing malignant neuroendocrine tumor with a high rate of recurrence and metastasis for which wide excision is recommended. About 10 cases of spontaneous regression have been reported in the world. We report a case of Merkel cell carcinoma which showed spontaneous regression. The patient was a 68-year-old woman with a two-month history of a rapidly enlarging dusky red tumor on her right cheek. Microscopically, the tumor cells were uniform with round to oval shaped nucleus and scanty cytoplasm, and showed trabecular arrangement. Ultrastructually, dense core neurosecretory granules 100 to 200nm in diameter were found in the cytoplasm of tumor cells. As far as we know, this is the first case of the spontaneous regression of the tumor in the country.
Aged ; Carcinoma, Merkel Cell* ; Cheek ; Cytoplasm ; Female ; Humans ; Neoplasm Metastasis ; Neuroendocrine Tumors ; Recurrence

BACKGROUND: Sporotrichosis is a chronic, deep cutaneous fungal infection characterized by nodular lesions of the cutaneous and subcutaneous tissues with involvement of the adjacent lymphatics. The infection is usually acquired by the traumatic implantation of the dimorphic fungus Sporothrix schenckii onto the skin. The incidence and cilnical features, treatment methods of sporotrichosis have been changed with time. OBJECTIVE: The purpose of this study is to describe the changes of the clinical features, diagnostic and treatment methods in sporotrichosis. METHODS: The observation of 45 patients with sporotrichosis who had visited the Department of Dermatology, Chonbuk National University Hospital for 18 years. All samples of formalin-fixed, paraffin- embedded skin tissue were stained with anti-BCG immunohistochemical stain and PAS stain. RESULTS: Forty-five cases of sporotrichosis were included. In the eighties, the first half (1982~1990), there were 28 cases (62%) of sporotrichosis, and there were 17 cases (38%) in the nineties, the second half (1991~1999). The age was varied from 4 to 82 years averaging 46 years and the sites of predilection were upper extremities (56%) and then the face (33%). The 64% of the total cases was lymphocutaneous type, and the rest was fixed cutaneous type. In the first half of the period the 32% was fixed cutaneous type, and in the second half of the period the 41% was fixed cutaneous type. The 42% of total cases was positive with PAS stain, and the 62% was positive with anti-BCG stain. In the treatment of sporotrichosis, potassium iodide (KI) was the choice of treatment in the first half of the period, however itraconazole is gradually used in the second half of the period. CONCLUSION: According to this study, some changes in clinical findings and treatment methods of sporotrichosis were noted. Anti-BCG stain can be the useful screening method.
Dermatology ; Fungi ; Humans ; Incidence ; Itraconazole ; Jeollabuk-do ; Mass Screening ; Potassium Iodide ; Skin ; Sporothrix ; Sporotrichosis* ; Subcutaneous Tissue ; Upper Extremity

Epidermolysis bullosa acquisita (EBA) is an uncommon autoimmune subepidermal blistering disorder and has four clinical subtypes. Among the four types of EBA, the cicatricial pemphigoid-like type is rarer than the other types and clinically the worst one. We experienced a case of cicatricial pemphigoid-like type of EBA in a 69-year-old woman, whose initial symptom was painful erosive lesions of oral mucous membrane before development of ocular and bullous cutaneous lesions. The clinical, histopathological findings and immunoblot assay were all typical of the disease. The course of her disease showed remissions by treatments including corticosteroid and intravenous immunoglobulin, but each time with exacerbations.
Aged ; Blister ; Epidermolysis Bullosa Acquisita* ; Epidermolysis Bullosa* ; Female ; Glycogen Storage Disease Type VI ; Humans ; Immunoglobulins ; Mucous Membrane

Chloracne is a refractory acneiform eruption due to halogenated polyaromatic compound(eg. dioxin, dibenzofurans, polychlorinated biphenyls, etc.). 2, 3, 7, 8-tetrachlorodibenzo-p-dioxin, a kind of dioxin isomer, contained in the Agent Orange which was used for defoliating agent during Vietnam war. It is characterized by recalcitrant comedones and cyst predominantly in the malar and postauricular area. Lesions of the penis and scrotum are also relatively frequent. The key pathological feature is the non-inflammatory keratinization of pilosebaceous unit. The meibomian glands are typically affected. Xerosis, conjunctivitis, pigmentation, follicular hyperkeratosis, actinic elastosis are occasionally associated with chloracne. We report a case of typical chloracne due to exposure to defoliating agent during Vietnam war in a 54-year-old-man who shows typical clinical and histopathological features.
Acneiform Eruptions ; Actins ; Chloracne* ; Citrus sinensis ; Conjunctivitis ; Male ; Meibomian Glands ; Penis ; Pigmentation ; Polychlorinated Biphenyls ; Scrotum ; Vietnam*