No abstract available.

No abstract available.

BACKGROUND: Philadelphia(Ph) chromosome is found in about 95 percent of chronic myelogenous leukemia(CML) patients. Ph chromosome results from a reciprocal translocation between the long arms of chromosomes 9 and 22, and the fusion gene, BCR-ABL contribute to oncogenesis. Three to five years after first diagnosis, CML progresses to the blast crisis, and is accompanied by secondary cytogenetic changes in about 85% of cases. In this study, we investigated the incidence of ABL deletion of derivative 9 chromosome in CML and evaluated the association between this deletion and progression to the blast crisis by interphase fluorescence in situ hybridization(FISH). METHOD: The subjects included in this study were a consecutive series of 58 patients who were diagnosed as CML at Seoul National University Hospital between January 1997 and April 2000. On 90 archival bone marrow aspirate samples from these 58 CML patients, interphase FISH was performed with a commercially available probe. RESULTS: The ABL deletion of derivative 9 chromosome was detected in 17(29.3%) of 58 patients with CML. Eighteen of 58 patients progressed to blast crisis in this period. ABL deletion was found in 7 of 18 patients with blast crisis, and not in 11 remainders. The mean duration from the diagnosis to blast crisis was 37.1 months in 7 patients with the ABL deletion, while the mean duration was 74.2 months in 11 patients without the ABL deletion. The mean duration from the diagnosis to blast crisis in patients with ABL deletion was significantly shorter than in patients without ABL deletion(P=0.043). CONCLUSIONS: We found that 29.3% of patients with CML had the ABL deletion on derivative 9 chromosome. In these patients, the time taken for evolution to blast crisis was significantly shorter than that of the patients without ABL deletion.
Arm ; Blast Crisis* ; Bone Marrow ; Carcinogenesis ; Cytogenetics ; Diagnosis ; Fluorescence* ; Humans ; Hydrogen-Ion Concentration ; In Situ Hybridization* ; Incidence* ; Interphase* ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive* ; Philadelphia Chromosome ; Seoul

Purpose: This study compared clinical and radiologic differences between cystic biliary atresia (cBA) and choledochal cyst (CC) type Ia/b. Methods: Infants (≤12 months old) who were diagnosed with cBA or CC type Ia/b from 2005 to 2019 were retrospectively reviewed. Imaging features on preoperative ultrasonography (US) and magnetic resonance imaging (MRI) were compared between the cBA and CC groups. Logistic regression and area under the receiver operating characteristic curve (AUC) analyses were performed for the diagnosis of cBA. Changes in cyst size were also evaluated when prenatal US exams were available. Results: Ten patients (5.5% of biliary atresia cases) with cBA (median age, 48 days) and 11 infants with CC type Ia/b (Ia:Ib=10:1; median age, 20 days) were included. Triangular cord thickness on US (cutoff, 4 mm) showed 100% sensitivity and 90.9% specificity (AUC, 0.964; 95% confidence interval [CI], 0.779 to 1.000) and cyst size on MRI (cutoff, 2.2 cm) had 70% sensitivity and 100% specificity (AUC, 0.900; 95% CI, 0.690 to 0.987) for diagnosing cBA. Gallbladder mucosal irregularity on US and an invisible distal common bile duct on MRI were only seen in the cBA group (10 of 10). Only the CC group showed prenatal cysts exceeding 1 cm with postnatal enlargement. Conclusion Small cyst size (<1 cm) on prenatal US, triangular cord thickening (≥4 mm) and gallbladder mucosal irregularity on postnatal US, and small cyst size (≤2.2 cm) and an invisible distal common bile duct on MRI can discriminate cBA from CC type Ia/b in infancy.

BACKGROUND: The most noted rearrangement identified in acute promyelocytic leukemia (APL) involves the PML and RARa genes, which results in the formation of the PML/RARa gene fusion. In the fluorescence in situ hybridization (FISH) for PML/RARa, the two signals may coincidentally overlap in normal nuclei. We investigated whether a new RARa rearrangement probe could discriminate the false-positive fusion signal of the PML/RARa translocation probe. METHODS: A total of 51 cases, which showed the results from 1% to the borderline level by PML/ RARa FISH, were re-tested with the RARa rearrangement probe. Also, we compared the RARa FISH with the PML/RARa FISH on 16 patients with newly diagnosed APL and performed the RARa FISH on 20 bone marrow specimens without hematologic malignancies in order to set up the cut-off value. RESULTS: The cut-off for the RARa FISH was determined as 1.02%. For patients with newly diagnosed APL, the PML/RARa FISH showed positive signals in 95.3+/-6.5% of the cells and RARa FISH showed positive signals in 97.0+/-7.0% (r=0.83). Of a total of 41 cases consisting of hematological disorders other than APL, five cases showed results equal to or greater than 5% with PML/RARa FISH and one case showed a positive result with RARa FISH. Of 10 follow-up APL cases, seven cases showed results equal to or greater than 5% with the PML/RARa FISH and four cases showed positive results with the RARa FISH. CONCLUSIONS: The cut-off value for the RARa FISH is 1.02% and we consider RARa FISH as the proper method for follow-up of APL.
Bone Marrow ; Fluorescence* ; Follow-Up Studies* ; Gene Fusion ; Hematologic Neoplasms ; Humans ; In Situ Hybridization* ; Leukemia, Promyelocytic, Acute*

BACKGROUND/AIMS: Pouchitis is one of the most common and debilitating complications of a restorative proctocolectomy. We aimed to analyze the features of pouchitis after restorative proctocolecomy and to determine the risk factors related to its development. METHODS: A study was undertaken in 169 patients who underwent total proctocolectomy with ileal pouch-anal anastomosis between July 1989 and December 2003. Pouchitis was defined as change of bowel habit, change in stool consistency, hematochezia or abdominal pain, febrile sensation and/or low-grade fever improved by metronidazole or ciprofloxacin without evidence of infectious disease and sphincter damage. RESULTS: Among the 169 patients, patients with ulcerative colitis were 64, familial and attenuated adenomatous polyposis 44, Crohn's disease 2, and synchronous or hereditary non-polyposis colorectal cancer were 59 cases. Overall, pouchitis occurred in 15.9% of the patients. The incidence was 37.5% in ulcerative colitis, 1% in non-ulcerative colitis, and 50% in Crohn's disease. In ulcerative colitis group, most of the pouchitis (60.9%) occurred within 6 months after the operation and the remainder experienced the first attack within 1 year after operation. Three patients progressed to chronic pouchitis. There was no association between pouchitis rate and sex, history of smoking, steroid use, temporary ileostomy construction, involvement of appendix or proximal colon, and evidence of indeterminate colitis. Only age was significantly related to the occurrence of pouchitis. CONCLUSIONS: Pouchitis developed exclusively in ulcerative colitis than other disease groups. Pouchitis occurred most frequently within 6 months after the operation, therefore, it is important to investigate carefully during one year after the operation in patients with ulcerative colitis.
Adenomatous Polyposis Coli/complications ; Adult ; Colitis, Ulcerative/complications ; Colorectal Neoplasms/complications ; Crohn Disease/complications ; English Abstract ; Female ; Humans ; Male ; Middle Aged ; Pouchitis/*etiology ; Risk Factors

PURPOSE: We reviewed 100 cases of HLA-matched sibling allogeneic bone marrow transplantation(allo-BMT) in children and wish to share these results. MEHTODS: One hundred children had undergone allo-BMT from HLA-identical siblings between Nov. 1983 and May 1998. There were 50 males and 50 females with a median age of 10 years and a median follow-up of 38 months. Out of 100 cases, 43 children were transplanted for severe aplastic anemia (SAA), 29 for acute myelogenous leukemia (AML), 18 for acute lymphocytic leukemia (ALL), 8 for chronic myelogenous leukemia (CML) and 2 for hemophagocytic lympho-histiocytosis (HLH). RESULTS: SAA : The 5-year event free survival (EFS) of SAA was 91%. The types of events that occurred were 3 thrombotic thrombocytopenic purpura (TTP), 2 venoocclusive disease (VOD) and 1 rejection. AML : In 25 of 29 cases, the 4-year EFS after allogeneic BMT in first remission was 71%. That of the TBI-based and Busulfan-based group was 44% and 77%, respectively. The most favorable results were observed in the Busulfan-based group in first remission with an EFS of 81% (n=18). The types of events that occurred were 4 TTP, 3 VOD, 2 rejections and 1 relapse. ALL : Five-year EFS of children with complete remission (CR; n=14, 7 CR1, 7 CR2) was 81%. CML : For the 6 children who received transplants while in the first chronic phase, the event free survival was 67%. HLH : Both of the two children with HLH survived 9 months and 24 months after BMT, respectively. Acute GVHD (> or =Grade ll) was observed in 13 children. Chronic GVHD developed in 10 children; 8 cases were localized and 2 were extensive type. CONCLUSION: Allo-BMT can cure children with refractory stem cell disorders. The most important factor that influences survival after transplantation is interval between diagnosis and transplantation for patients with severe aplastic anemia and remission state at transplantation for patients with leu-
Anemia, Aplastic ; Bone Marrow Transplantation* ; Bone Marrow* ; Child* ; Diagnosis ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Leukemia, Myeloid, Acute ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Purpura, Thrombotic Thrombocytopenic ; Recurrence ; Siblings* ; Stem Cells

PURPOSE: We reviewed 100 cases of HLA-matched sibling allogeneic bone marrow transplantation(allo-BMT) in children and wish to share these results. MEHTODS: One hundred children had undergone allo-BMT from HLA-identical siblings between Nov. 1983 and May 1998. There were 50 males and 50 females with a median age of 10 years and a median follow-up of 38 months. Out of 100 cases, 43 children were transplanted for severe aplastic anemia (SAA), 29 for acute myelogenous leukemia (AML), 18 for acute lymphocytic leukemia (ALL), 8 for chronic myelogenous leukemia (CML) and 2 for hemophagocytic lympho-histiocytosis (HLH). RESULTS: SAA : The 5-year event free survival (EFS) of SAA was 91%. The types of events that occurred were 3 thrombotic thrombocytopenic purpura (TTP), 2 venoocclusive disease (VOD) and 1 rejection. AML : In 25 of 29 cases, the 4-year EFS after allogeneic BMT in first remission was 71%. That of the TBI-based and Busulfan-based group was 44% and 77%, respectively. The most favorable results were observed in the Busulfan-based group in first remission with an EFS of 81% (n=18). The types of events that occurred were 4 TTP, 3 VOD, 2 rejections and 1 relapse. ALL : Five-year EFS of children with complete remission (CR; n=14, 7 CR1, 7 CR2) was 81%. CML : For the 6 children who received transplants while in the first chronic phase, the event free survival was 67%. HLH : Both of the two children with HLH survived 9 months and 24 months after BMT, respectively. Acute GVHD (> or =Grade ll) was observed in 13 children. Chronic GVHD developed in 10 children; 8 cases were localized and 2 were extensive type. CONCLUSION: Allo-BMT can cure children with refractory stem cell disorders. The most important factor that influences survival after transplantation is interval between diagnosis and transplantation for patients with severe aplastic anemia and remission state at transplantation for patients with leu-
Anemia, Aplastic ; Bone Marrow Transplantation* ; Bone Marrow* ; Child* ; Diagnosis ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Leukemia, Myeloid, Acute ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Purpura, Thrombotic Thrombocytopenic ; Recurrence ; Siblings* ; Stem Cells

BACKGROUND: Translocations involving the MLL gene on the long arm of chromosome 11 (11q23) are frequently observed in acute leukemia. The detection of this genetic change has a unique significance due to its implication for poor prognosis. The aim of this study was to determine the utility of fluorescence in situ hybridization (FISH) method in detecting the MLL translocation. METHODS: We applied both conventional cytogenetic analysis (CC) and MLL FISH on 289 consecutive Korean patients (children and adults) with acute leukemia and analyzed the data, placing an emphasis on the discrepancies in the results. RESULTS: Twenty-two of 289 patients (7.6%) had the 11q23/MLL translocation. In 9 cases of 22 (41%), only FISH detected the translocation. In 8 among 22 patients, a total of 19 follow-up examinations were performed, of which FISH detected a significant level of leukemia cells harboring the MLL translocation in 5 (26%) without cytogenetic evidence. Besides the MLL translocation, FISH detected submicroscopic amplification, partial deletion of the MLL gene, and trisomy 11 in 12 cases without cytogenetic evidence. CONCLUSIONS: These results demonstrate that up to 41% of the MLL translocations at initial workups and 26% during follow-up were detected by FISH without cytogenetic evidence. Thus, we recommend that MLL FISH should be performed in the diagnosis and monitoring of acute leukemia in combination with CC.
Arm ; Asian Continental Ancestry Group ; Chromosomes, Human, Pair 11 ; Cytogenetic Analysis ; Cytogenetics ; Diagnosis ; Fluorescence ; Follow-Up Studies ; Humans ; In Situ Hybridization ; Leukemia* ; Prognosis ; Trisomy

Malignant intestinal lymphoma complicating ulcerative colitis has been reported. Although the association of colorectal cancer with ulcerative colitis is well described, the association of intestinal lymphoma, ulcerative colitis and prior immunosuppression remains unclear. However, it is important to be aware of the possible risk of lymphoma and carcinoma when patients shows unexpected signs of deterioration or when the clinical course of ulcerative colitis is atypical. Substantial biopsies with colonoscopy are required to make an unequivocal diagnosis in such patients. We report the case of non-Hodgkin's lymphoma in ulcerative colitis with review of the literature.
Biopsy ; Colitis, Ulcerative* ; Colonoscopy ; Colorectal Neoplasms ; Diagnosis ; Humans ; Immunosuppression ; Lymphoma ; Lymphoma, Non-Hodgkin* ; Ulcer*