BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.

BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.

BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.

Background/Aims: Although endoscopic ultrasound (EUS)-guided fine needle aspiration (FNA) and fine needle biopsy (FNB) are widely used for tissue acquisition of pancreatic solid mass, the optimal strategy of this procedure has not been established yet. The aim of this nationwide study was to investigate the current practice patterns of EUS-FNA/FNB for pancreatic solid mass in Korea. Methods: The Policy-Quality Management of the Korean Pancreatobiliary Association (KPBA) developed a questionnaire containing 22 questions. An electronic survey consisting of the questionnaire was distributed by e-mail to members registered to the KPBA. Results: A total of 101 respondents completed the survey. Eighty respondents (79.2%) performed preoperative EUS-FNA/FNB for operable pancreatic solid mass. Acquire needles (60.4%) were used the most, followed by ProCore needles (47.5%). In terms of need size, most respondents (>80%) preferred 22-gauge needles regardless of the location of the mass. Negative suction with a 10-mL syringe (71.3%) as sampling technique was followed by stylet slow-pull (41.6%). More than three needle passes for EUS-FNA/FNB was performed by most respondents (>80%). The frequency of requiring repeated procedure was significantly higher in respondents with a low individual volume (<5 per month, p=0.001). Prophylactic antibiotics were routinely used in 39 respondents (38.6%); rapid on-site pathologic evaluation was used in 6.1%. Conclusions According to this survey, practices of EUS-FNA/FNB for pancreatic solid mass varied substantially, some of which differed considerably from the recommendations present in existing guidelines. These results suggest that the development of evidence-based quality guidelines fitting Korean clinical practice is needed to establish the optimal strategy for this procedure.

Objectives: The aim of this study was to determine the most effective treatment approach by comparing the impacts of various otolith reduction techniques in patients with apogeotropic lateral semicircular canal benign paroxysmal positional vertigo (LC-BPPV). Methods: We performed a multicenter randomized prospective study from January to December 2015, involving 72 consecutive patients with apogeotropic LC-BPPV. The patients were divided into three treatment groups: therapeutic head-shaking (group A), the Gufoni-Appiani maneuver (group B), and the cupulolith repositioning maneuver (CuRM; group C). Each group underwent evaluation and treatment up to the fourth week. Treatment success was defined as the disappearance of positional vertigo and nystagmus. Results: This study included 72 patients (49 male and 23 female), with a mean (±standard deviation) age of 55.4±13.5 years. The mean duration of vertigo experienced prior to treatment was 3.9±4.4 days. The mean latency and duration of nystagmus were 2.7±3.0 seconds and 47.9±15.8 seconds, respectively. The overall treatment frequency was 2.0±0.9. The number of treatments differed significantly among the three groups (P<0.05). After 4 weeks, the success rates for groups A, B, and C were 90.5%, 92.3%, and 100%, respectively. No significant difference was observed in the success rate across treatment methods and periods (P>0.05). However, CuRM was the only method with a 100% treatment success rate. Conclusion While no clear difference was observed among the three treatments for LC-BPPV, CuRM was found to be superior to the other approaches in the long term.

Purpose: For liposarcoma (LPS), clinical course and proper treatment strategies have not been well-established. Recently, immune-checkpoint inhibitors have shown potential efficacy in LPS. We aimed to describe the clinical course of LPS and evaluate the clinical impact of programmed death-ligand 1 (PD-L1). Materials and Methods: We reviewed all consecutive patients (n=332) who underwent curative-intent surgery for localized LPS at Asan Medical Center between 1989 and 2017. PD-L1 testing was performed in well-differentiated and dedifferentiated LPS. Results: The median age was 56 years with males comprising 60.8%. Abdomen-pelvis (47.6%) and well-differentiated (37.7%) were the most frequent primary site and histologic subtype, respectively. During a median follow-up of 81.2 months, recurrence was observed in 135 (40.7%), and 86.7% (117/135) were loco-regional. Well-differentiated subtype (hazard ratio [HR], 0.38), abdomen-pelvis origin (HR, 2.43), tumor size larger than 5 cm (HR, 1.83), positive resection margin (HR, 2.58), and postoperative radiotherapy (HR, 0.36) were significantly related with recurrence-free survival as well as visceral involvement (HR, 1.84) and multifocality (HR, 3.79) in abdomen-pelvis LPS. PD-L1 was positive in 31.5% (23/73) and 51.3% (39/76) of well-differentiated and dedifferentiated LPS, respectively, but had no impact on survival outcomes. Conclusion Clinical course of LPS was heterogeneous according to histology and anatomic location. Clear resection margin was important to lower recurrence and postoperative radiotherapy might have additional benefit. A decent portion of well-differentiated and dedifferentiated LPS were positive for PD-L1, but its prognostic role was unclear. Further research is needed to determine clinical implications of PD-L1, especially for advanced-stage LPS with unmet needs for effective systemic treatment.

Purpose: To report a case of bilateral subepidermal calcified nodules of the upper eyelid in a child.Case summary: A 5-year-old girl with no history of trauma or systemic disease was referred for assessment of bilateral eyelid masses that had appeared 8 months prior. The masses grew slowly without pain, and were hard, elevated, and yellowish-white in color. The right eyelid mass was close to the medial canthus and measured 0.2 × 0.2 cm. The mass of the left upper eyelid was smaller (0.2 × 0.1 cm) and closer to the medial side. The clinical impression was juvenile xanthogranuloma and molluscum contagiosum. Excisional biopsy of the bilateral eyelid masses was performed. Histologic findings revealed that the lesions were composed of variable-sized multiple calcium deposits, lined by hyperplastic and hyperkeratotic epidermis or within the hyperkeratotic epidermis. The diagnosis was subepidermal calcified nodules (SCNs) for both of the bilateral eyelid masses. The patient made a complete recovery after the excision, without recurrence. Conclusions SCNs should be considered during differential diagnosis of a painless, elevated, yellowish-white eyelid lesion.

Purpose: We report a case of phakomatous choristoma presenting as an orbital tumor with involvement of the inferior oblique muscle. Case summary: A 2-month-old male infant presented to our clinic with a right orbital mass that had been present since birth. Magnetic resonance imaging demonstrated a homogenous enhanced well-defined mass located in the inferomedial portion of the right orbit without bone erosion. By transconjunctival orbitotomy, the orbital tumor invading the inferior oblique muscle was identified and resected. Histopathology showed a thick basement membrane surrounding pseudoglandular structures embedded in a collagenous stroma, psammomatous calcific foci in the stroma, and eosinophilic material in the lumen. Immunohistochemical analysis showed positive staining for S-100 and cytokeratin. On histopathological evaluation, the tumor was diagnosed as phakomatous choristoma. Conclusions To our knowledge, this is the first report in South Korea of phakomatous choristoma of the orbit with involvement of the inferior oblique muscle. Although rare, phakomatous choristoma should be included in the differential diagnosis of tumors occurring on the inferomedial side of the orbit.

Purpose: To report a case of bilateral subepidermal calcified nodules of the upper eyelid in a child.Case summary: A 5-year-old girl with no history of trauma or systemic disease was referred for assessment of bilateral eyelid masses that had appeared 8 months prior. The masses grew slowly without pain, and were hard, elevated, and yellowish-white in color. The right eyelid mass was close to the medial canthus and measured 0.2 × 0.2 cm. The mass of the left upper eyelid was smaller (0.2 × 0.1 cm) and closer to the medial side. The clinical impression was juvenile xanthogranuloma and molluscum contagiosum. Excisional biopsy of the bilateral eyelid masses was performed. Histologic findings revealed that the lesions were composed of variable-sized multiple calcium deposits, lined by hyperplastic and hyperkeratotic epidermis or within the hyperkeratotic epidermis. The diagnosis was subepidermal calcified nodules (SCNs) for both of the bilateral eyelid masses. The patient made a complete recovery after the excision, without recurrence. Conclusions SCNs should be considered during differential diagnosis of a painless, elevated, yellowish-white eyelid lesion.

Purpose: We report a case of phakomatous choristoma presenting as an orbital tumor with involvement of the inferior oblique muscle. Case summary: A 2-month-old male infant presented to our clinic with a right orbital mass that had been present since birth. Magnetic resonance imaging demonstrated a homogenous enhanced well-defined mass located in the inferomedial portion of the right orbit without bone erosion. By transconjunctival orbitotomy, the orbital tumor invading the inferior oblique muscle was identified and resected. Histopathology showed a thick basement membrane surrounding pseudoglandular structures embedded in a collagenous stroma, psammomatous calcific foci in the stroma, and eosinophilic material in the lumen. Immunohistochemical analysis showed positive staining for S-100 and cytokeratin. On histopathological evaluation, the tumor was diagnosed as phakomatous choristoma. Conclusions To our knowledge, this is the first report in South Korea of phakomatous choristoma of the orbit with involvement of the inferior oblique muscle. Although rare, phakomatous choristoma should be included in the differential diagnosis of tumors occurring on the inferomedial side of the orbit.