A Novel Four-Way Translocation t(5;9;22;18)(q31;q34;q11.2;q21) in a Patient with Chronic Myelogenous Leukemia

Chronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, which is generated by a reciprocal t(9;22)(q34;q11) translocation. Variant Philadelphia chromosomes, found in 5-10% of CML cases, are a result of translocations involving other chromosomes, in addition to 9 and 22. These four-way Philadelphia chromosome translocations are very rare; only about 60 patients with such chromosomes have been described. Here, we report a CML case with a novel four-way variant Philadelphia chromosome. A conventional chromosome analysis of bone marrow cells revealed a 46,XY,t(5;9;22;18)(q31;q34;q11.2;q21) karyotype, which was confirmed by multicolor fluorescence in situ hybridization. The major BCR-ABL1 fusion gene was detected by reverse transcription-nested PCR. The patient was treated with imatinib. Twelve months after treatment, he demonstrated a complete hematologic response and chromosome analysis showed that he had a normal karyotype.

A Novel Four-Way Translocation t(5;9;22;18)(q31;q34;q11.2;q21) in a Patient with Chronic Myelogenous Leukemia

Chronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, which is generated by a reciprocal t(9;22)(q34;q11) translocation. Variant Philadelphia chromosomes, found in 5-10% of CML cases, are a result of translocations involving other chromosomes, in addition to 9 and 22. These four-way Philadelphia chromosome translocations are very rare; only about 60 patients with such chromosomes have been described. Here, we report a CML case with a novel four-way variant Philadelphia chromosome. A conventional chromosome analysis of bone marrow cells revealed a 46,XY,t(5;9;22;18)(q31;q34;q11.2;q21) karyotype, which was confirmed by multicolor fluorescence in situ hybridization. The major BCR-ABL1 fusion gene was detected by reverse transcription-nested PCR. The patient was treated with imatinib. Twelve months after treatment, he demonstrated a complete hematologic response and chromosome analysis showed that he had a normal karyotype.

Comparison of Short Segment and Long Segment Posterior Instrumentation of Thoracolumbar and Lumbar Bursting Fractures at Load Sharing Score 7 or Above

STUDY DESIGN: A retrospective comparative analysis of the short-segment and long-segment posterior fixation in thoracolumbar burst fractures that are 7 points or above in load-sharing score was performed. OBJECTIVES: The purpose of this study is to demonstrate the appropriate level of fixation by comparing the results of short-segment and long-segment posterior fixation. SUMMARY OF LITERATURE REVIEW: There is general consensus that short-segment fixation should be done in thoracolumbar burst fractures that are 6 points or less in load-sharing classification. There is some controversy regarding whether short-segment or long-segment fixation should be done in thoracolumbar burst fractures that are 7 points or above in load-sharing classification. MATERIALS AND METHODS: From 1998 through 2008, 32 patients with thoracolumbar burst fractures above 7 points in load-sharing classification had been operated with short-segment (1 segment above and 1 segment below: 23 patients) or long-segment (2 segments above and 1 segment below: 9 patients) transpedicular screw fixation at the author's institution. They were divided by two groups (group I: short-segment fixation, group II: long-segment fixation). The mean age of patients was 49.2 years old and the mean follow-up period was 2.4 years (1-7 years). In preoperative and postoperative simple radiographs, the bony unions, breakages or loosening of implants were assessed, and the losses of correction angle and anterior vertebral body height were measured. RESULTS: In all cases, non-union or loosening of implants were not observed. There was 1 screw breakage in short-segment fixation group during the follow up period, but bony union was obtained at final follow-up. The mean score of load sharing classification was 7.3 in Group I and 7.1 in Group II, and there was no significant difference between two groups. (p>0.05) The mean anterior vertebral body height loss was 5.3% in Group I and 3.6% in Group II and the mean loss of correction angle were 4.72 in Group I and 3.38 in Group II. There was no significant difference between the two groups for both. (p>0.05) CONCLUSIONS: There was no significant difference in radiologic parameters between two groups. Short-segment fixation could be used successfully in selected cases of thoracolumbar burst fractures that are 7 points or above in load-sharing classification.

Preliminary Results of Paclitaxel, Cisplatin and Concurrent High-Dose Radiation Therapy for Locally Advanced Non-Small-Cell Lung Cancer / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: To investigate the feasibility, toxicity and response rate, of concurrent chemoradiation therapy with paclitaxel/cisplatin in stage III locally advanced non-small cell lung cancer (NSCLC). MATERIALS AND METHODS: Between May 1999 and December 2000, 80 patients with stage III NSCLC were enrolled in a prospective protocol. Radiotherapy was given to a total dose of 70.2 Gy (daily fraction of 1.8 Gy for 5 days), over an 8 week period, on the gross tumor volume, combined with chemotherapy. The concurrent chemotherapy consisted of paclitaxel (40 mg/m2) and 20 mg/m2 cisplatin per week for 8 consecutive weeks. All patients received 3-D conformal radiotherapy using CT-simulated planning. Acute toxicities were evaluated by the RTOG scale. The median follow-up period was 16 months, ranging from 3 to 29 months. RESULTS: Of the 80 patients, 71 received treatment per protocol, with minor variation of protocol delivery. The median age of the patients was 60 years. Karnofsky Performance status were 100 and 90 in 62 patients, and 80 and 70 in 9, respectively. Weight loss of less than 5% for 6 months was observed in 22 patients. The response to treatment was evaluated from the radiological findings. Complete and partial responses were observed in 8 and 51 patients, respectively. Ultimately, 82% of patients (included complete responses: 8 cases) obtained more than a partial response. Although, radiation induced esophagitis was the most common treatment related toxicity, occurring in 44 patients (69%), severe radiation esophagitis like, grade 3, was observed in only 3 patients, and the most acute toxicities had completely recovered 1 month following treatment. The overall 2-year actuarial and progression free survivals were 56 and 45%, respectively. CONCLUSION: This combined modality has activity with manageable toxicity and 23 months in mean survival time in patients with stage III NSCLC. A longer follow up will be required to realise the expected higher survival of these results.

Clinical Features of Neuroendocrine Lung Cancer / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: This study was performed to investigate the clinical features of neuroendocrine lung cancer. MATERIALS AND METHODS: We performed a retrospective review of the histopathology and clinical information of 21 patients diagnosed as having neuroendocrine lung cancer between 1995 and 1999. RESULTS: Nineteen cases were male and 2 were female. The median age was 64 years (range: 45~80). Pathologic classification were atypical carcinoid (AC) in 2 cases, large cell neuroendocrine carcinoma (LCNEC) in 7 cases, and intermediate cell neuroendocrine carcinoma (ICNC) in 12 cases. Nine patients received tumor resection as first line therapy; adjuvant chemotherapy was given to 3 patients. Concurrent chemoradiotherapy was given to 1 patient. Six patients received palliative chemotherapy. The chemotherapy regimen included etoposide cisplatin in 5 cases and vinorelbine+cisplatin in 1 case. The median survival times were 11, 16 and 59 weeks for AC, LCNEC and ICNC, respectively. The estimated 2-year survival rates were AC 0%, LCNEC 22% and ICNC 31%. CONCLUSION: Surgery may have a positive effect on survival in patients with early stage cansers. Further investigation is required to improve survival in cases of advanced stage cancer.

Two Cases of Multiple Carcinoid Tumors of the Rectum / 대한소화기내시경학회지

Carcinoid tumors of the rectum are relatively uncommon and comprise only about one percent of all rectal neoplasms. Typically, rectal carcinoids present as small, solitary submucosal nodules and have benign course. But, multicentricity is rare. The frequency of an associated second malignancy is about 13%. The explanation of the high frequency of other neoplasms associated with carcinoid tumors is still unclear. We have experienced two cases of multiple carcinoid tumors of the rectum, one was coexisted with adenocarcinoma of the sigmoid colon. They presented with mass on the right inguinal area and hematochezia. Carcnoids was found incidentally. Because the tumors measured 15 mm or less in diameter, did not infiltrate beyond the submucosal layer and had no histological atypia, carcinoids was treated by endoscopic polypectomy and mucosal resection. Thereafter, one underwent surgery for adenocarcinoma of the sigmoid colon. Herein we present our experience with reviewed literatures.

A Case of Acute Phlegmonous Esophagitis / 대한소화기내시경학회지

Phlegmonous esophagitis is an uncommon disease characterized by purulent infection of the esophageal wall, sparing the mucosa. Bacterial infection of the eosphagus is usually presented as a superimposed infection upon a preexisting viral or fungal esophagitis and most victims are immunocompromised hosts. A case was experienced involving an acute phlegmonous esophagitis in an 21-year-old man who was immunologically normal and whose main symptoms were epigastric pain and fever for one day. Esophagographic examination revealed a large ulceration of the eosphagus with exudation, and submucosal lesions. Due to its rarity, this case is herein reported with a review of the corresponding literature.

A Case of Glomus Tumor Arising in the Stomach / 대한소화기내시경학회지

It is very important to be aware of occurrence and distinctive histologic features of gastric glomus tumor because its clinical presentation and endoscopic ficdings are indistinguishable from other gastric tumors. A 58-year-old man was admitted because of intermittent epigastric pain and indigestion for 2 months. Physical examination and laboratory findings revealed within normal limits. Upper gastroendoscopy demonstrated a submucosal mass near the antrum with central mucosal depressionand peripheral multiple erosions. Endoscopic ultrasonography revealed a circumscribed mass that continued to the third and fourth layers which demonstrated a heterogeneous low echo pattern mixed with internal high echo spots. Histologically, the tumor cells have uniform small nuclei with inconspicuous nucleoli. Immunochemical analysis on the tumor cells expressed alpha 1 smooth muscle actin and the tumor cells are enveloped by reticulin fiber, individually or grouped. A case of glomus tumor of the stomach is herein reported with a review of literature.

Three Cases of Relapsing Polychondritis / 대한류마티스학회지

Relapsing polychondritis, a rare multisystem disease, is characterized by wide spread potentially destructive inflammatory lesions, involving cartilaginous structures throughout the body. Auricular chondritis is the most frequent presenting sign of this disease, with arthritis being the second. Other clinical menifestations include nasal chondritis, scleritis, damage to tracheobroncheal cartilage, and cardiovascular and renal involvement. We experienced three cases of relapsiug polychondritis. One case is 66 year old male with bilateral auricular chondritis with histologic confirmation, episcleritis, polyarthritis, periarterial vasculitis, and sensorineural hearing loss. Another case is 42 year old male with respiratory, nasal, auricular chondritis and psoriasis with arthritis. The third case is 46 year old female with three year history of relapsing polychondritis, presenting bilateral auricular and nasal chondritis and severe respiratory tract involvement with histologic confirmation. We also reviewed the other case reports of relapsing polychondritis in Korea. The major presenting manifestations of relapsing polychondritis in Korea were respiratory tract symptoms of dyspnea, cough, and sputum. That is, auricular chondritis was less frequent thari laryngotracheal-bronchial involvement.

Exercise Capacity and Maximum Oxygen Consumption before and after Percutaneous Mitral Balloon Valvuloplasty

To evaluate exercise capacity, treadmill test and exercise pulmonary function test with cycle ergometer were preformed in 52 patients(pts) (M/F : 18/34, mean age : 43+/-11 yrs) with mitral stenosis before and 5~10 days after percutaneous mitral balloon valvuloplasty(PMV). Twenty four pts had atrial fibrillation. The results are as follow : 1) The mitral valve area increased from 0.9+/-0.2 to 1.8+/-0.3cm2(P<0.001). 2) The duration of exercise time on treadmill test(modified Bruce protocol) increased from 7.7+/-3.3min to 11.1+/-2.6min(P<0.001), but peak heart rate(HR) and maximum double product(MDP) did not change significantly. After exclusion of the patients with atrial fibrillation, peak HR and MDP increased from 157+/-24beats/min and 22350+/-8220mmHg beat to 165+/-19beats/min and 26290+/-5770mmHg beat respectively(P<0.05). 3) Diffusion capacity and diffusing capacity/alveolar volume at rest decreased from 95+/-25% and 112+/-24% to 87+/-22% and 100+/-18% respectively(p<0.001). 4) FVC, FEV1, FEV1/FVC, FEF25~75% and maximum voluntary ventilation increased from 77+/-12%, 79+/-16%, 104+/-10%, 69+/-25%, and 68+/-14%, to 80+/-11%, 84+/-14%. 106+/-9%, 78+/-25%, and 74+/-12%, respectively(P<0.05). But total lung capacity, residual volume and functional residual capacity did not change significantly. 5) Maximum oxygen consumption, anaerobic threshold, oxygen pulse and maximum work load during exercise increased form 53+/-14%, 34+/-8%, 6.2+/-2.1ml/min and 48+/-18 watts to 61+/-13%, 39+/-7%, 7.3+/-2.0ml/min and 58+/-20 watts respectively(P<0.0005). We conclude that oxygen transport and exercise capacity improve within 10days after PMV and the improvement results from not only hemodynamic improvement but also improvement of static pulmonary function.