A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer / 한국유방암학회지

Germline mutations in the BRCA1 and BRCA2 genes are strong genetic factors for predispositions to breast, ovarian, and other related cancers. This report describes a family with a history of breast and ovarian cancers that harbored a novel BRCA1 germline mutation. A single nucleotide deletion in intron 20, namely c.5332+4delA, was detected in a 43-year-old patient with breast cancer. This mutation led to the skipping of exon 20, which in turn resulted in the production of a truncated BRCA1 protein that was 1773 amino acids in length. The mother of the proband had died due to ovarian cancer and had harbored the same germline mutation. Ectopically expressed mutant BRCA1 protein interacted with the BARD1 protein, but showed a reduced transcriptional function, as demonstrated by the expression of cyclin B1. This novel germline mutation in the BRCA1 gene caused familial breast and ovarian cancers.

Clinicopathologic Evaluation of Patients with Recurrence of Gastric Cancer within 6 Months after Curative Resection

PURPOSE: Evaluation of the clinicopathologic characteristics of recurred gastric cancer after curative resection is useful for detection of the recurrence and care thereof. The aim of this study was evaluating the characteristics of recurrence that occur less than 6 months after curative resection for gastric cancer. METHODS: The study included 199 patients who recurred after curative gastrectomy that was performed in Kyung-Hee University Medical Center, from January 2000 to January 2008. Clinicopathologic findings were compared between 18 patients who recurred within 6 months after gastrectomy (early recurrence group) and 56 patients who recurred 2 years later (late recurrence group). RESULTS: When compared with the late recurrence group, the early recurrence group was characterized by extended lymph node metastasis (P=0.005), advanced stage of disease (P=0.022), shorter survival period after recurrence (P=0.001), and more hepatic metastasis (P=0.008). CONCLUSION: Patients with more advanced stages of disease or those with extended lymph node metastasis have a risk of early recurrence after curative gastrectomy. Clinicopathologic characteristics related to recurrence time of gastric cancer are important in detection and effective care of recurred gastric cancer.

Sudoriferous Cyst Adhered to Levator Aponeurosis: A Case Report

PURPOSE: Sudoriferous cyst usually occurs on the face, and especially on the ear and scalp as a solitary cystic mass. It is derived from the sweat glands of Moll and results from the obstruction of excretory ducts with the retention of fluid. In the eyelid, it is usually seen as small and firm vesicle arising at the eyelid margin. If it rarely occurs on the orbit, it develops from orbital ectopic epithelial cells predetermined to form glands of Moll. We experienced a case of sudoriferous cyst on eyelid which was adhered to levator aponeurosis and it disappeared when patient closed eyes. METHODS: A 55-year-old women suffered palpable mass on left upper eyelid without pain that had been present for 25 years. Orbital computed tomographic finding showed a oval mass(2.1x0.6x0.6cm size) inside upper eyelid and it invaded the orbit. The mass was completely excised under general anesthesia and histopathological examination was followed. RESULTS: Cystic mass was purple color and it was located in superiorly to tarsal plate. The mass was adhered to levator aponeurosis and levator palpabrae superioris muscle between the fat layer of post-orbital septum and the Whitnall ligament. The mass was completely excised without injury of aponeurosis and muscle. Microscopically, the lesion was a solitary cyst lined by two layers of cuboidal epithelial cells and innermost cells displaying eosinophilic cytoplasm with apical expansions. CONCLUSION: Sudoriferous cyst usually occurs on eyelid margin. But in this case, cystic mass occurred on upper eyelid and disappeared when patient closed the eyes because it was partially adhered to levator aponeurosis and levator palpebrae superioris muscle. Therefore, if sudoriferous cyst occurs on eyelid, it is necessary to excised the mass carefully.

MALT Lymphoma of Ocular Adnexa: A Case Report

PURPOSE: Lymphoma originated from mucosa associated lymphoid tissue(MALT) is most common in gastrointestinal system, and rarely found in salivary gland, thyroid, bronchus or orbit. We experienced a case of MALT lymphoma which was originated from conjunctiva and involving lower eyelid without metastasis. METHODS: A 40-year-old man suffered palpable mass on right lower eyelid without pain. Orbital computed tomographic and ultrasonographic findings showed a conical mass(1.9x1.2x0.9cm size) inside lower eyelid. The mass was completely excised under local anesthesia and histopathological examination was followed. RESULTS: Microscopic finding showed a multiple follicular colonization. In the follicle, small lymphocytes and plasma cells differentiated to centrocyte-like cell, monocyte B cell, plasma cell were diffusely infiltrated. Immunophenotyping was preformed on fixed section. The majority of the small cells were immunoreactive for the B cell marker CD20. Based on the typical histological findings supported by immunostaining, the mass was defined as MALT lymphoma. After excision, SPECT, abdominal CT was carried out and there were no evidence of extraorbital disease. CONCLUSION: Biopsy and pathological examination should be performed in patients who complain palpable mass on lower eyelid because of possibility of MALT lymphoma. Although MALT lymphoma is rarely metastasized, it is necessary to evaluate the extraorbital involvement using SPECT or other radiologic exams. For detecting extraorbital involvement, periodic follow-up examination is need.

Multiple Hepatic and Paraaortic Lymph Nodes Metastases from Advanced Gastric Cancer Successfully Treated with Oxaliplatin/Leucovorin/5-FU

The treatment for the hepatic and lymph nodes metastases after curative resection of gastric cancer has not yet been established. The different kinds of treatment that have been attempted have not yet shown satisfactory results. We report here on a case of an advanced gastric cancer patient who had multiple hepatic and paraaortic lymph node metastases 4 months after curative resection, and the woman showed a clinical response of complete remission to combination chemotherapy with oxaliplatin, leucovorin and 5-FU. A 62-year-old female patient, who was diagnosed with Borrmann type 3 advanced gastric cancer, underwent distal gastrectomy and D2 lymph nodes dissection. The conclusive stage was stage IIIA: After UFT 400 mg/m(2) was administered for 4 months, abdominal CT scan revealed two hepatic metastases and multiple paraaortic nodal enlargements. She received combination chemotherapy with oxaliplatin 100 mg/m(2) and LV 100 mg/m(2) for a 2-hour infusion at day 1, followed by a 22-hour continuous infusion of 5-FU 1,750 mg/m(2) at days 1 and 2. She remains alive without any evidence of recurrent disease for 47 months after chemotherapy.