Primary Myelofibrosis with MPL S505N Mutation: The First Case Reported in Korea

MPL mutation is an important molecular marker in myeloproliferative neoplasms (MPN). Although MPL W515 is a hot spot for missense mutations in MPN, MPL S505 mutations have been reported in both familial and non-familial MPN. A 72-year-old male visited the hospital, complaining mainly of dizziness and epistaxis. Leukocytosis, anemia, thrombocytopenia, tear drop cells, nucleated RBCs, and myeloblasts were observed in both complete blood cell counts and peripheral blood smears. Bone marrow aspiration failed due to dilution with peripheral blood. BM biopsy indicated hypercellular marrow, megakaryocytic proliferation with atypia, and grade 3 reticulin fibrosis. Conventional cytogenetics results were as follows: 46,XY,del(13)(q12q22)[19]/46,XY[1]. Molecular studies did not detect JAK2 V617F, BCR/ABL translocation, JAK2 exon 12, and CALR exon 9 mutations. The MPL S505N mutation was verified by colony PCR and Sanger sequencing following gene cloning. Based on the above findings, a diagnosis of overt primary myelofibrosis (PMF) was indicated. Mutation studies of buccal and T cells were not conducted. Further, family members were not subjected to mutation studies. Therefore, we were unable to determine whether this mutation was familial or non-familial. Six months after the first visit to the hospital, the patient died due to pneumonia and sepsis. Thrombotic symptoms or major bleeding events did not develop during the survival period following diagnosis of PMF. To the best of our knowledge, this may be the first reported case of PMF with the MPL S505N mutation in Korea.

Two Cases of Brugian Filariasis Diagnosed Incidentally on Peripheral Blood Smears / 대한진단검사의학회지

The Brugian filariasis in Korea was once endemic in several areas including Jeju-do and small remote islands located in the southwestern part of the Korean peninsula. But recently it has almost been controlled. The first patient was a 42-year-old man, who visited the hospital with the chief complaints of fatigue, jaundice and edema on the right low extremity. Examination of a peripheral blood smear revealed non-megaloblastic macrocytic anemia, thrombocytopenia and eosinophilia, and a parasite, which was identified as microfilaria of Brugia malayi on the glass slide of blood obtained from the patient at midnight. The second patient was a 23-year-old man, who visited the hospital with the chief complaints of cough, sputum and fever. A parasite resembling that of the first patient was found in a peripheral blood smear accompaning neutrophilia. No more parasites, however, were found in the peripheral blood obtained from the patient at midnight. These two clinical cases of Brugian filariasis indicate that the clinical laboratory in Korea should be able to detect microfilariae for the diagnosis of filariasis.

The Significance of Plasma ADH in Differential Diagnosis of Central Diabetes Insipidus / 대한내분비학회지

BACKGROUND: Although the water restriction test(WRT) has been used as a standard test for the differential diagnosis of diabetes insipidus(DI), the measurement of plasma ADH concentration is also known to be useful method for differential diagnosis. Recent studies have shown that some patients with idiopathic central DI(CDI) were found to have a lesion on follow-up imaging studies. There have been no report in Korea on plasma ADH measurement for the differential diagnosis of DI, nor on follow-up imaging study of the idiopathic CDI. METHODS: We retrospectively reviewed the clinical and laboratory findings of 26 patients(12 men, 14 women, age 9-65 years) with CDI, including pituitary MRI or CT scan, who had been diagnosed with WRT and had undergone plasma ADH concentration measurement. RESULTS: 1) Clinical features of the patients with complete CDI did not differ from those of patients with partial CDI. 2) Maximal urine osmolality of complete CDI and partial CDI were 168+/-69mOsm/kg and 431+/-141mOsm/kg, respectively, and the percentage increase in the urinary osmolality after ADH injection was 209+/-149% and 29+/-17%, respectively. 3) Among the 26 patients, 10 patients had their plasma ADH measured. Nine patients in this group were diagnosed as CDI by WRT and plasma ADH concentration of the 9 was compatible for CDI. The plasma ADH level was also inappropriately low in one patient who had been diagnosed with primary polydipsia by WRT, the patient was diagnosed as partial CDI. 4) The findings of follow-up MRI revealed isolated thickening of the pituitary stalk in two cases of idiopathic CDI diagnosed initially with MRI. CONCLUSION: This study suggests that the measurement of plasma ADH can ensure a better differential diagnosis between partial CDI and primary polydipsia, and that the patients with idiopathic CDI should be examined regularly with MRI brain scan, including the pituitary gland.

A Case of Bleomycin Induced Bronchiolitis Obliterans Orgnizing Pneumonia / 결핵

There are numerous agents with potential toxic effects on the lung. In particular, cytotoxic drugs constitute the largest and most imprtant group of agents associated with lung toxicity. Bleomycin is commonly used, either alone or in combination with other chemotherapeutic agents, in the treatment of squamous cell carcinoma(head and neck, esophagus, and genitourinary tract), lymphoma, and germ cell tumor. One of the therapeutic advantages of bleomycin is its minimal bone marrow toxicity. However, pulmonary toxicity is one of the most serous adverse side effect. Classically, pulmonary toxicity manifests as a diffuse interstitial process or less commonly as a hypersensitivity reaction. This pulmonary toxicity is generally considered to be dose related and can progress to a fatal fibrosis. It is also possible that bronchiolitis obliterans organizing pneumonia(BOOP) is another manifestation of bleomycin induced toxicity. Bleomycin induced BOOP is less common and has a favorable response to steriod therapy. Here we present a case that demonstrates a BOOP, secondary to a relatively small cumulative dose of bleomycin(225mg/??, may be reversible.

Efficacy of Sotalol and Amiodarone for Atrial Fibrillation

BACKGROUND AND OBJECTIVES: Atrial fibrillation(AF) is the most frequently encountered arrhythmia in clinical practice. Pharmacologic therapy has been advocated for both immediate restoration of sinus rhythm and prevention of recurrent AF. Because conventional antiarrhythmic therapy is often ineffective in maintaining sinus rhythm or is associated with adverse side effects in patients with AF, recent interest has focused on the use of class III antiarrhythmic agents. This study investigated the efficacy and safety of sotalol and amiodarone for conversion of chronic AF and prevention of recurrent AF. MATERIALS AND METHOD: Thirty six patients with AF were firstly received sotalol by prospective study protocol. The patients were classified as having paroxysmal AF(PAF, N=2) or chronic AF(CAF, N=4) based on AF pattern. If the patients with CAF did not convert to sinus rhythm or the patients with PAF recurred in AF, the patients were received second agents(amiodarone). Patients were followed up for one year. RESULTS: Among the 12 patients with PAF receiving sotalol, 10(83.3%) patients remained in normal sinus rhythm for average 9.4+/-3.6 months. Sotalol was replaced by amiodarone in the remaing 2 patients with arrhythmia recurrence and 1 of the 2 patients remained in sinus rhythm during the follow-up period. In the case of 24 patients with CAF, conversion to sinus rhythm was achieved in 5(20.8%) patients with sotalol. Among the patients with CAF who were not respond to sotalol, 17 patients received amiodarone subsquently and 3 patients successfully converted to sinus rhythm. There were no proarrhythmic effects related to both agents during the study period. CONCLUSION: Both sotalol and amiodarone appear to be less effective in the termination of CAF, but sequential use of these two agents seem to be very effective for the prevention of recurrence of PAF.

A Case of pulmonary lymphangioleiomyomatosis developed in tuberous sclerosis with renal angiomyolipoma / 결핵

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by mental retardation, epilepsy, and adenoma sebaceum. Pulmonary involvement is uncommon, but, when involve by tuberous sclerosis, it shows characteristic reticulonodular infiltration and cystic changes. Lymphangioleiomyomatosis is a rare disease of unknown cause that affects women of reproductive age. It is characterized by progressive proliferation of smooth muscle in the lung. We experienced one case of pulmonary lymphangioleiomyomatosis associated with tuberous sclerosis in a 26-year-old female patient. This case is reported with a brief of the literature.