• Journal of Genetic Medicine
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• v.13 no.1
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• pp.41-45
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• 2016

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.

• Tuberculosis and Respiratory Diseases
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• v.53 no.3
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• pp.325-331
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• 2002

Postpneumonectomy syndrome is a rare complication that usually occurs in younger patients within the first year after a right total lung resection. Its clinical presentations are stridor, dyspnea, and recurrent pulmonary infections. An airway obstruction secondary to the extreme mediastinal shift and ratation after a pneumonectomy is the main mechanism. It is commonly complicated with tracheobronchomalacia due to longstanding airway compression. The management modalities involve a repositioning of the mediastinum with volume expansion of the pneumonectomy site by a expandable prosthesis. however, other methods including an endobronchial stent insertion should be considered in the presence of a tracheobronchomalacia or in poor surgical candidates. Here we describe a case of postpneumonectomy syndrome complicated by a bronchomalacia, which was successfully treated with a self-expandable endobronchal stent.

• Tuberculosis and Respiratory Diseases
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• v.63 no.6
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• pp.521-525
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• 2007

Positron emission tomography/computed tomography (PET/CT) is valuable for the diagnosis of malignancies. However, PET/CT is unable to discriminate exactly between inflammation and a neoplasm. We report a case of a 50-year-old man with pulmonary paragonimiasis that was suspicious for lung cancer, as detected by PET/CT. The use of PET/CT revealed multilobulated consolidation on the right lung and patchy consolidation on the left lung, with increased fluorodeoxyglucose (FDG) uptake. In addition, the left paraaortic lymph node (LN) and peripancreatic LN showed enlargement with increased FDG uptake. Lung cancer with multiple lymph node metastases was suspected from the increased standardized uptake values (SUV>4.5) determined by PET/CT. We performed wedge resection via video-assisted thoracic surgery (VATS) and found Paragonimus westermani eggs in the involved tissues.

• Korean Journal of Bronchoesophagology
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• v.5 no.1
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• pp.78-84
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• 1999

Broncholithiasis is defined as a condition in which calcified material is present within the bronchial lumen. It is a rare but troublesome disease that can cause life-threatening complications such as massive fatal hemoptysis. Therefore, pulmonary resection is frequently required to remove the broncholiths and irreversibly damaged parenchyma. We experienced 3 cases of broncholithiasis. In one case, a 36 year old female patient suffered from coughing, massive hemoptysis with lithoptysis caused by intrinsic obstructive broncholiths in the right middle and lower lobe. In the 2nd case, a 41 year old male patient complained of long-standing blood tinged sputum and frequent pneumonic symptoms for 10 months because of extrinsic broncholithiasis where the calcified peribronchial lymph node eroded into the bronchial lumen of the right lower lobe. The remaining case involved a 30 year old female patient who complained of intermittent blood-tinged sputum induced by intrabronchial broncholith in the orifice of the right middle lobe bronchus. Two patients underwent bilobectomy(right middle and lower lobe) for removal of the broncholiths, damaged bronchi and parenchyma. The other patient was treated with right middle lobectomy and stone removal by bronchotomy of bronchus intermedius. In all patients, the post-operative course was uneventful.

• Tuberculosis and Respiratory Diseases
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• v.41 no.6
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• pp.658-662
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• 1994

The leiomyosarcoma is uncommon tumor that consists of 10% of all sarcoma incidence and commonly arise from retroperitoneum or mesentery. But leiomyosarcoma arose from mediastinum is very rare and only incidental case report is present. Mediastinal leiomyosarcoma may originate from superior vena cava, pulmonary artery, small vessels of alveoli, esophagus and cardiac muscle. Common symptoms that are related with leiomyosarcoma of mediastinum are cough and dyspnea but dysphagia, chest pain and hemoptysis can be produced. Although long term survival after complete resection of tumor was reported in localized disease, there was no effective therapy that prolong the survival in patients who had disseminated disease or huge tumor mass. We report the case of posterior mediastinal leiomyosarcoma confirmed by aspiration cytology and immunohistochemical staining, along with a review of literature.

• Tuberculosis and Respiratory Diseases
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• v.48 no.1
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• pp.91-95
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• 2000

Mucous gland adenoma of the bronchus is a rare benign tumor arising from the bronchial mucous gland. It accounts for less than 0.5% of all lung tumors. In adults, tracheal tumors are most often malignant. Among benign tumors arising in the trachea, mucous gland adenoma of the trachea is extremely rare. First case was reported by Ferguson and Cleeland in 1988, as "Mucous gland adenoma of the trachea". Microscopic study shows it to arise from normal submucosal mucous glands forming glandular or tubular structures composed of mucous secreting cells. Common symptoms were cough, hemoptysis, recurrent and protracted pneumonia, shortness of breath, and wheeze. Duration of symptoms before diagnosis varied from a few weeks to 10 years with prolonged symptoms being usual. Management of these tumors should be complete excision, including pulmonary resection because two instances of recurrence after local excision have been reported.

• Journal of Chest Surgery
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• v.39 no.3 s.260
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• pp.244-247
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• 2006

Granular cell tumors (GCT) are uncommon benign neoplasms. Their location is mostly in the the skin, tongue, and breast; appearance in other parts of the body is rare, but it has been reported. They have also been reported to occur synchronously in multiple organs and metachronously in a single organ. The incidence of GCTs in the tracheobronchial tree is unknown and pulmonary GCTs are uncommon, with approximately 100 reported cases in the literature. We present the case of a 33-year-old man with a granular cell tumor of the left main bronchus. The tumor was found at bronchoscopy performed to exclude suspected endobronchial mass with symptoms of pneumonia. Biopsies revealed the histological pattern of a benign granular cell tumor. He underwent resection of the left main bronchus followed by end to end anastomosis of left main bronchus. He has not had any recurrence of the tumor during the 1 year follow-up.

• Journal of Chest Surgery
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• v.39 no.4 s.261
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• pp.332-334
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• 2006

Inflammatory myofbroblastic tumor in the lung is a rare tumor. The etiology is not clear. This tumor in children is a benign tumor rarely presented with local invasiveness, recurrence, distant metastasis or malignant changes can occur. The complete surgical resection is chosen as the optimal management. A 12-years-old boy visited the outpatient clinic with a 4 cm sized pulmonary mass in left upper lung field. The patient underwent left upper lobectomy. Histopathologically, inflammatory myofibroblastic tumor was confirmed. The patient was discharged without any problems and there was no evidence of recurrence during 3 months follow-up.

• Journal of the Korean Orthopaedic Association
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• v.54 no.3
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• pp.276-280
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• 2019

Hepatocellular carcinoma is one of the most common cancers worldwide. Extrahepatic metastasis commonly occur in the lung, lymph, nodes, bone, and adrenal glands. On the other hand, a metastasis of hepatocellular carcinoma to the skeletal muscle is rare. A 42-year-old woman presented for evaluation of a palpable mass with tenderness in her right thigh area. She has been diagnosed with hepatocellular carcinoma and pulmonary metastasis seven years ago and has received treatment. We performed incisional biopsy with suspicion of hepatocellular carcinoma metastasis from imaging studies and blood test results. The patient was finally diagnosed with metastasis of hepatocellular carcinoma in the semimembranosus muscle and treated by extensive resection. We report this case with a review of the relevant literature.

• Journal of Digestive Cancer Research
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• v.6 no.2
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• pp.73-77
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• 2018

A 70-year-old female diagnosed with pancreatic ductal adenocarcinoma was treated by pylorus-preserving pancreaticoduodenectomy (PPPD) and adjuvant concurrent chemoradiotherapy with 5-fluorouracil. Pancreatic ductal adenocarcinoma pT3N0 (stage IIA) was pathologically confirmed. Abdominal computed tomography (CT) findings 14 months after PPPD showed 10 mm sized solitary liver metastasis in segment 3. After 12 cycles of gemcitabine and 9 cycles of capecitabine plus oxaliplatin, the metastatic nodule increased in size to 27 mm. Tumorectomy at segment 3 of liver was done. 25 months after tumorectomy, chest CT showed 23 mm sized cavitary nodule in right upper lobe of lung. The result of percutaneous biopsy favored metastatic adenocarcinoma. Two sets of stereotactic body radiation therapy were done and the patient has survived without further disease progression for 6 years after initial diagnosis. This case suggests that selected population of recurrent pancreatic cancer patients with solitary liver or pulmonary metastasis can be treated by resection of metastatic site and ablative therapies.