A family of multiple endocrine neoplasia type 2A associated with a C618R mutation in RET proto-oncogene / 대한내과학회지

Medullary thyroid carcinoma (MTC) is a relatively rare malignant thyroid disease that accounts for approximately 1% to 5% of all thyroid carcinomas. MTC occurs as a sporadic disease and as an inherited disease with the multiple endocrine neoplasia type 2A (MEN2A), MEN2B, and familial non-MEN medullary carcinoma (FMTC). MEN2A is characterized by MTC, pheochromocytoma, and parathyroid adenoma. The mutation of RET proto-oncogene plays an important role in MEN2A syndromes. Recently the authors diagnosed MEN2A patient and screened his family with thyroid ultrasonogram and RET proto-oncogene analysis. A genetic analysis of the peripheral leukocyte showed a codon 618 mutation (Cys618Arg) at exon 10 of the RET proto-oncogene in a family presenting third generations from age 7 to age 56 years. We report this case of MEN2A with a review of the related literatures.

Isolation of Nontuberculous Mycobacteria by DNA Probe and Clinical Characteristics of Patients with NTM Pulmonary Disease / 결핵및호흡기질환

BACKGROUND: Nontuberculous mycobacterial (NTM) infections are increasingly being recognized as a cause of chronic pulmonary disease. This study describes the prevalence of NTM species from clinical specimens and the clinical characteristics of NTM pulmonary disease. MATERIAL AND METHODS: The NTM isolated from March 2003 to December 2003 at the Kosin Medical Center were identified using an oligonucleotide chip containing the internal transcribed space (ITS) sequence. The medical records of the patients with the NTM isolates, who fulfilled the 1997 ATS diagnostic criteria for NTM pulmonary disease, were analyzed, retrospectively. RESULTS: Twenty four species (24.2%) of NTM were isolated from 99 cultured AFB specimens. M. avium complex (MAC) (13 isolates), M. szulgai (3), M. kansasii (2), M. malmoense (2), M. abscessus (1), M. chelonae (1), M. scrofulaceum (1), and unclassified (1). Of the 23 patients with isolated NTM, 11 patients were found to be compatible with a NTM pulmonary infection according to the ATS criteria; MAC was found in 6 cases (54.5%), M. szulgai in 2 cases (18.2%), and M. abscessus, M. szulgai, M. kansasii and M. malmoense in 1 case each (9.1%). Ten patients (91%) were male and the median age at diagnosis was 61 years. In the pre-existing diseases, malignant disease was found in 6 cases including 5 patients with lung cancer, and history of old pulmonary tuberculosis was identified in 4 cases. The radiological patterns showed lung destruction lung in 3 cases, a cavitary mass in 3 cases, a nodular pattern in 2 cases, and reticulonodular, consolidation and a bronchiectasis pattern were in 1 case each. CONCLUSION: Various types of NTM pulmonary diseases were`found in a tertiary hospital at Busan, Korea. The NTM pulmonary diseases were caused by MAC, M. szugai, M. kansasii, M. malmoense, M. abscessus, M. chelonae, and M. scrofulaceum in the order of frequency.

Concurrent Docetaxel/Cisplatin and Thoracic Radiotherapy for Locally Advanced Non-Small Cell Lung Cancer / 결핵및호흡기질환

BACKGROUND: There are many combinations of treatment for locally advanced non-small cell lung cancer (NSCLC). Recent studies have showed the efficacy of concurrent chemoradiotherapy (CCRT) in NSCLC. At present, however, there is no consensus about the optimal dosages and timing of radiation and chemotherapeutic agents. The aims of study were to determine the feasibility, toxicity, response rate, and survival rate in locally advanced NSCLC patients treated with doxetaxel and cisplatin based CCRT. METHOD: Sixteen patients with unresectable stage III NSCLC were evaluated from May 2000 until September 2001. Induction chemoradiotherapy consisted of 3 cycles of docetaxel (75 mg/m2/IV on day 1) and cisplatin (60 mg/m2/IV on day 1) chemotherapy every 3 weeks and concomitant hyperfractionated chest irradiation (1.15 Gy/BID, total dose of 69 Gy) in 6 weeks. Patient who had complete or partial response, and stable disease were applied consolidation chemotherapy of docetaxel and cisplatin. RESULTS: All patients showed response to CCRT. Four patients achieved complete response (25%), partial responses in 12 patients (75%). The major common toxicities were grade III or more of neutropenia (87.3%), grade III esophagitis (68.8%), pneumonia (18.8%) and grade III radiation pneumonitis (12.5%). Thirteen patients were ceased during follow-up period. Median survival time was 19.9 months (95% CI; 4.3-39.7 months). The survival rates in one, two, and three years are 68.7%, 43.7%, and 29.1%, respectively. Local recurrence was found in 11 patients (66.8%), bone metastasis in 2, and brain metastasis in 1 patient. CONCLUSION: The response rate and survival time of CCRT with docetaxel/cisplatin in locally advanced NSCLC were encouraging, but treatment related toxicities were high. Further modification of therapy seems to be warranted.