• 대한영상의학회지
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• 제83권1호
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• pp.178-183
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• 2022

진성적혈구증가증은 드문 골수 증식성 질환이며 제어되지 않은 적혈구 생산으로 인해 절대 적혈구 질량이 증가한다. 진성적혈구증가증은 큰 혈관의 협착 또는 폐색과 함께 허혈성 뇌졸중의 위험이 높다. 진성적혈구증가증 환자에서 뇌경색에 대한 많은 증례 보고가 있다. 그러나 합병증으로 뇌졸중이 발생한 진성적혈구증가증 환자의 좁아진 혈관에서 혈관벽 자기공명영상 소견은 보고되지 않았다. 저자들은 뇌졸중으로 인해 입원한 후 PV로 진단된 30세 남성의 경동맥 VW-MRI 소견에 관해 보고하고자 하며, 이는 우리가 아는 한 영어로 된 첫 번째 보고이다.

• 대한핵의학회:학술대회논문집
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• 대한핵의학회 1979년도 제18차 학술대회
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• pp.20-20
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• 1979

• Tuberculosis and Respiratory Diseases
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• 제64권3호
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• pp.224-229
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• 2008

ECD는 포말 대식세포의 전신 침범으로 염증 반응을 일으키는 드문 질환으로 다양한 임상양상과 불량한 예후를 보이는 질환이다. 본 증례는 골 동통과 폐막 침범이 된 자에서 흉막 생검을 통한 확진으로 ECD가 진단된 경우이며 기저질환으로 진성 적혈구 증다증이 있는 자에서 발현한 예를 경험하였기에 이를 문헌고찰과 함께 보고하는 바이다.

• 대한핵의학회지
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• 제11권1호
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• pp.59-70
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• 1977

Eight patients with polycythemia vera were diagnosed from 1965 through 1977 among the patients of Seoul National University Hospital. In our series there were 4 men and 4 women with average age of 54 years at the time of diagnosis. Symptoms of facial plethora, headache, pruritus and dizziness were the most frequent manifestations of disease in order of frequency. At inital examination 8 of 8 patients had facial plethora, 6 of 8 patients splenomegaly and 4 if 8 patients hepatomegaly. The laboratory data revealed mean Red cell volume of 55+10ml/kg which was elevated in all cases. Leukocytosis was observed in 5 of 8 patients and thrombocytosis 2 of 8 patients. Leukocyte alkaline phosphatase was increased in all cases. Bone marrow aspiration disclosed typical panmyelosis in 5 of 8 patients. In one patient there was diffuse myelofibrosis on bone marrow biopsy. The combined diseases included 2 patient with hypertension and 1 patient with thrombosis of aorta and left renal artery. The patients were treated with phlebotomy alone in 2 patients, chemotherapy with busulfan in 1 patient and $^{32}P$ in 5 patients with favorable results. During the mean 29.9 months follow up period, there were development of iron deficiency in 3 patients, hyperuricemia in 2 patients and thrombosis in 1 patient. The occurrence of acute leukemia of myelofibrosis was not observed in the course of disease.

• Asian Pacific Journal of Cancer Prevention
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• 제16권12호
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• pp.5013-5018
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• 2015

Background: Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by proliferation of one or more myeloid lineages. Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical Philadelphia chromosome (Ph)-negative MPN that have a Janus Kinase 2 (JAK2) mutation, especially JAK2V617F in the majority of patients. The major complications of Ph-negative MPNs are thrombosis, hemorrhage, and leukemic transformation. Objective: To study clinical manifestations including symptoms, signs, laboratory findings, and JAK2V617F mutations of Ph-negative MPN (PV, ET and PMF) as well as their complications. Materials and Methods: All Ph-negative MPN (PV, ET and PMF) patients who attended the Hematology Clinic at Maharaj Nakorn Chiang Mai Hospital from January, 1 2003 through December, 31 2013 were retrospectively reviewed for demographic data, clinical characteristics, complete blood count, JAK2V617F mutation analysis, treatment, and complications. Results: One hundred and fifty seven patients were included in the study. They were classified as PV, ET and PMF for 68, 83 and 6 with median ages of 60, 61, and 68 years, respectively. JAK2V617F mutations were detected in 88%, 69%, and 100% of PV, ET and PMF patients. PV had the highest incidence of thrombosis (PV 29%, ET 14%, and PMF 0%) that occurred in both arterial and venous sites whereas PMF had the highest incidence of bleeding (PMF 17%, ET 11%, and PV 7%). During follow up, there was one ET patient that transformed to acute leukemia and five cases that developed thrombosis (three ET and two PV patients). No secondary myelofibrosis and death cases were encountered. Conclusions: Ph-negative MPNs have various clinical manifestations. JAK2V617F mutations are present in the majority of PV, ET, and PMF patients. This study confirmed that thrombosis and bleeding are the most significant complications in patients with Ph-negative MPN.

• 보험의학회지
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• 제27권1호
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• pp.21-23
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• 2008

The 5th revision of Korean Classification of Diseases(KCD) became effective on January 1, 2008. It has reflected the changes made to the tenth revision of International Classification of Diseases (ICD-10) between 1998 and 2005 and the suggestions of academic and related societies in Korea. Two important alterations seem to have a major implication in the insurance industry. One would be the official introduction of a Korean version of International Classification of Diseases for Oncology, third edition(ICD-O-3). The borderline ovarian tumor is classified as a borderline neoplasm, which was classified as a malignant neoplasm in the previous edition of International Classification of Diseases for Oncology. The other would be the appearance of non-C-code malignant neoplasm for the diseases, such as polycythemia vera, newly classified as a malignant neoplasm by the current edition of International Classification of Diseases for Oncology. The National Office of Statistics(NSO) adopted the way of implementation used in the Australian Modification of International Classification of Diseases(ICD-10-AM), instead of assigning them into corresponding C code. Overall, the changes made in this revision doesn't seem to have a serious impact on the insurance industry since it has only reflected updates made to ICD-10.

• 대한두경부종양학회지
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• 제36권1호
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• pp.21-25
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• 2020

Kimura's disease is a rare disease of unknown etiology, commonly presenting with slow-growing head and neck subcutaneous nodules. It primarily involves the head and neck region, presenting as deep subcutaneous masses and is often accompanied by regional lymphadenopathy and salivary gland involvement. Clinically it is often confused with a parotid tumor or lymph node metastasis. It is difficult to diagnose before surgery, and fine needle aspiration cytology has only limited value. Even though this disease has not shown any malignant transformation, it is often difficult to cope with because of its high recurrence rate. Surgery, steroids, and radiotherapy have been used widely as the first-line recommendation, but none of them is standard procedure until now because of high recurrence rates. The recurrence of the disease reported up to 62%. We recently experienced a case of Kimura's disease, not accompanying peripheral eosinophilia, on the parotid gland treated by surgical resection in an 82-year-old woman with polycythemia vera. Here, we report this case with a review of the literature.

• Tuberculosis and Respiratory Diseases
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• 제67권4호
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• pp.351-355
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• 2009

The incidence of pulmonary thromboembolism increases with age. The risk factors of pulmonary thromboembolism include surgery, malignancy, obesity, lupus anticoagulants, and vascular conditions such as deep vein thrombosis. Thromboembolism in younger patients or in unusual locations, the possibility of primary thrombophilic conditions should be considered. Primary thrombophilic states include myeloproliferative disorders (MPD). JAK2 V617F mutation is found commonly in patients diagnosed with MPD, in 90~95% of polycythemia vera (PV) and in 50~60% of essential thrombocytosis (ET) patients. Sometimes the JAK2 V617F mutation is found in cases without MPD. The relationship between JAK2 V617F mutation and thrombosis has not been defined. Recently, clinical evidence suggests that this mutation may be variably associated with thrombosis. We present one case of pulmonary thromboembolism in a young patient, who was positive for the JAK2 V617F mutation and did not have MPD.

• Asian Pacific Journal of Cancer Prevention
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• 제17권3호
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• pp.923-926
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• 2016

The classic BCR-ABL1-negative myeloproliferative neoplasm is an operational sub-category of MPNs that includes polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The JAK2V617F mutation is found in ~ 95% of PV and 50-60% of ET or PMF. In most of the remaining JAK2V617F-negative PV cases, JAK2 exon 12 mutations are present. Amongst the JAK2V617F-negative ET or PMF 5-10% of patients carry mutations in the MPL gene. Prior to 2013, there was no specific molecular marker described in the remaining 30-40% ET and PMF. In December 2013, two research groups independently reported mutations in the gene CALR found specifically in ET (67-71%) and PMF (56-88%) but not in PV. Initially CALR mutations were reported mutually exclusive with JAK2 or MPL. However, co-occurrence of CALR mutations with JAK2V617F has been reported recently in a few MPN cases. Many studies have reported important diagnostic and prognostic significance of CALR mutations in ET and PMF patients and CALR mutation screening has been proposed to be incorporated into WHO diagnostic criteria for MPN. It is suggestive in diagnostic workup of MPN that CALR mutations should not be studied in MPN patients who carry JAK2 or MPL mutations. However JAK2V617F and CALR positive patients might have a different phenotype and clinical course, distinct from the JAK2-positive or CALR-positive subgroups and identification of the true frequency of these patients may be an important factor for defining the prognosis, risk factors and outcomes for MPN patients.

• Asian Pacific Journal of Cancer Prevention
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• 제17권10호
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• pp.4647-4653
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• 2016

Background: The discovery of somatic acquired mutations of JAK2 (V617F) in Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) has not only improved rational disease classification and prognostication but also brings new understanding insight into the pathogenesis of diseases. Dosage effects of the JAK2 (V617F) allelic burden in Ph-negative MPNs may partially influence clinical presentation, disease progression, and treatment outcome. Material and Methods: Pyrosequencing was performed to detect JAK2 (V617F) and MPL (W515K/L) and capillary electrophoresis to identify CALR exon 9 mutations in 100 samples of Ph-negative MPNs (38.0 PV, 55 ET, 4 PMF, and 3 MPN-U). Results: The results showed somatic mutations of JAK2 (V617F) in 94.7% of PV, 74.5% of ET, 25.0% of PMF, and all MPN-U. A high proportion of JAK2 (V617F) mutant allele burden (mutational load > 50.0%) was predominantly observed in PV when compared with ET. Although a high level of JAK2 (V617F) allele burden was strongly associated with high WBC counts in both PV and ET, several hematological parameters (hemoglobin, hematocrit, and platelet count) were independent of JAK2 (V617F) mutational load. MPL (W515K/L) mutations could not be detected whereas CALR exon 9 mutations were identified in 35.7% of patients with JAK2 negative ET and 33.3% with JAK2 negative PMF. Conclusions: The JAK2 (V617F) allele burden may be involved in progression of MPNs. Furthermore, a high level of JAK2 (V617F) mutant allele appears strongly associated with leukocytosis in both PV and ET.