BACKGROUND: The effective treatment of hematologic malignancies depends upon application of different therapeutic strategies by selecting patients known as the high risk group and the detection of malignant cells that can not be distinguished during following-up. We compared the results of G-banding and fluorescence in situ hybridization (FISH), which are used most frequently in detecting genetic changes, with the respect to investigating the discrepancies between these methods. METHODS: G-banding and FISH were performed on 919 consecutive specimens from 304 patients with hematologic malignancies. As for FISH, we covered most of the more frequent gene-tic changes, using 18 types of FISH probe. RESULTS: The average discrepancy between G-banding and FISH was 8.6% with a discrepancy at initial diagnosis of 6.0% and at follow-up of 11.9%, indicating greater discrepancy at follow-up after treatment. The chromosomal changes with especially large discrepancies were TEL/AML1, BCR/ABL & del(5q) (22.4%, 18.1%, and 16.2%, respectively). According to each disease, the discrepancies in acute biphenotypic leukemia (33.3%), acute lymphoblastic leukemia (14.7%), and chronic myelogenous leukemia (9.6%) were larger than average discrepancy. CONCLUSTIONS: We concluded that application of FISH is effective for detecting genetic changes in hematologic malignancies. Once genetic changes are detected, follow-up with FISH would be especially effective for making an accurate assessment of the likelihood of complete remission and recurrence.
Diagnosis ; Fluorescence ; Follow-Up Studies ; Hematologic Neoplasms ; Humans ; In Situ Hybridization ; Leukemia, Biphenotypic, Acute ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Recurrence

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

Primary biliary cirrhosis is a chronic, progressive liver disease characterized by inflammatory destruction of septal and intralobular bile ducts which results in intrahepatic cholestasis. Although the cause remains obscure, it is frequently associated with a variety of disorders presumed to be autoimmune in nature. We report a case of early primary biliary cirrhosis which was anteceded by rheumatoid arthritis. The patient was a 54-year-old female who was admitted due to arthralgia and joint deformity. She had been diagnosed as having rheumatoid arthritis 10 years before. On admission, she had elevated serum ALT, AST, alkaline phosphatase, gamma-GTP and positive serum antimitochondrial antibody test. Microscopic findings of the liver were consistent with the early stage of primary bi]iary cirrhosis.
Alkaline Phosphatase ; Arthralgia ; Arthritis, Rheumatoid* ; Bile Ducts ; Cholestasis, Intrahepatic ; Congenital Abnormalities ; Female ; Fibrosis ; Humans ; Joints ; Liver ; Liver Cirrhosis, Biliary* ; Liver Diseases ; Middle Aged

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

BACKGROUND: Immunoglobulin heavy chain (IgH) gene rearrangement, which is frequently observed in multiple myeloma, can now be detected easily by using a fluorescence in situ hybridization (FISH) method. The aim of this study was to determine the detection rate and compare the utility of the three most commonly used probes: IGH/CCND1 dual color, dual fusion probe; IGH/BCL2 dual color, dual fusion probe; and IGH dual color break apart rearrangement probe; all from Vysis Products (Downers Grove, IL, USA). METHODS: From October 1994 to July 2003, 99 patients were diagnosed as multiple myeloma at Seoul National University Hospital, Asan Medical Center and Gachon University Gil hospital. We applied the three different probes of IgH FISH on bone marrow specimens from the 99 Korean patients with multiple myeloma to detect IgH gene rearrangement. RESULTS: Forty-one (41.4%) of the 99 patients had IgH gene rearrangement. Of those 41 patients, 23 (56.1%) showed positive to all three probes, but the remaining 18 (43.9%) showed a discrepancy between the three probes: 13 (72.2%) of the 18 patients were only positive to the IGH dual color break apart rearrangement probe and the detection rate was 39.6% on the average. CONCLUSIONS: These results demonstrate that IGH dual color break apart rearrangement probe is superior to the other two probes in qualitative and quantitative ways. Thus, we recommend IGH dual color break apart rearrangement probe for the diagnosis and monitoring of multiple myeloma.
Bone Marrow ; Chungcheongnam-do ; Diagnosis ; Fluorescence ; Gene Rearrangement* ; Humans ; Immunoglobulin Heavy Chains* ; Immunoglobulins* ; In Situ Hybridization* ; Multiple Myeloma* ; Seoul

Objective: Despite a high prevalence of dementia in older adults hospitalized with severe acute respiratory syndrome coronavirus 2 infection (SARS-CoV-2), or so called COVID-19, research investigating association between preexisting diagnoses of dementia and prognosis of COVID-19 is scarce. We aimed to investigate treatment outcome of patients with dementia after COVID-19. Methods: We explored a nationwide cohort with a total of 2,800 subjects older than 50 years who were diagnosed with COVID-19 between January and April 2020. Among them, 223 patients had underlying dementia (dementia group). We matched 1:1 for each dementia- non-dementia group pair yielding 223 patients without dementia (no dementia group) using propensity score matching. Results: Mortality rate after COVID-19 was higher in dementia group than in no dementia group (33.6% vs. 20.2%, p=0.002). Dementia group had higher proportion of patients requiring invasive ventilatory support than no dementia group (34.1% vs. 22.0%, p=0.006). Multivariable analysis showed that dementia group had a higher risk of mortality than no dementia group (odds ratio=3.05, p<0.001). We also found that patients in dementia group had a higher risk of needing invasive ventilatory support than those in no dementia group. Conclusion Our results suggest that system including strengthen quarantines are required for patients with dementia during the COVID- 19 pandemic.

Objective: Despite a high prevalence of dementia in older adults hospitalized with severe acute respiratory syndrome coronavirus 2 infection (SARS-CoV-2), or so called COVID-19, research investigating association between preexisting diagnoses of dementia and prognosis of COVID-19 is scarce. We aimed to investigate treatment outcome of patients with dementia after COVID-19. Methods: We explored a nationwide cohort with a total of 2,800 subjects older than 50 years who were diagnosed with COVID-19 between January and April 2020. Among them, 223 patients had underlying dementia (dementia group). We matched 1:1 for each dementia- non-dementia group pair yielding 223 patients without dementia (no dementia group) using propensity score matching. Results: Mortality rate after COVID-19 was higher in dementia group than in no dementia group (33.6% vs. 20.2%, p=0.002). Dementia group had higher proportion of patients requiring invasive ventilatory support than no dementia group (34.1% vs. 22.0%, p=0.006). Multivariable analysis showed that dementia group had a higher risk of mortality than no dementia group (odds ratio=3.05, p<0.001). We also found that patients in dementia group had a higher risk of needing invasive ventilatory support than those in no dementia group. Conclusion Our results suggest that system including strengthen quarantines are required for patients with dementia during the COVID- 19 pandemic.

PURPOSE: The aim of this study was to assess the involvement of several organs patients with Marfan syndrome in Korea. Also the clinical features in childhood patients with Marfan syndrome were assessed. METHODS: Thirty-eight cases of Marfan syndrome were enrolled in this study. Clinical evaluations of the musculoskeletal, cardiovascular and occular system were performed in all cases. RESULTS: The musculoskeletal system was involved in 32 cases (84.2%) and occular system in 24 cases (63.1%). Cardiovascular abnormalities were found in 19 cases (50.0%) at initial evaluation. Family history was involved in 21 cases (55.2%). Ectopia lentis was found in 17 cases (70.8%). Severe myopia and iris abnormalities were also present in 14 cases (58.2%). The ascending aorta was dilated in 13 cases (34.2%). Emergency operation was performed in 3 cases (7.9%) because of a dissecting aorta. Mitral regurgitation and prolapse were found in 29 cases (76.4%) and other valve insufficiency was accompainied in 5 cases (13.1%). Of the 38 cases, 29 patients (79.3%) were less than 15 years of age and their major manifestations were occular problems in 23 cases (79.3%), and family history in 17 cases (58.6%). In one infant, severe heart failure was the predominant clinical feature. CONCLUSION: The clinical features of Korean patients with Marfan syndrome were summarized in this report. Heart failure was the main manifestaton in infantile Marfan syndrome. Early treatment with beta-blocker and valvular replacement can prevent fatality, i.e. aortic dissection, in this disease, concern and management should be advocated in the early detection of Marfan syndrome.
Aorta ; Cardiovascular Abnormalities ; Ectopia Lentis ; Emergencies ; Heart Failure ; Humans ; Infant ; Iris ; Korea ; Marfan Syndrome* ; Mitral Valve Insufficiency ; Musculoskeletal System ; Myopia ; Prolapse

Objective: No previous study examined impact of dementia in the outcome of allogeneic hematopoietic stem cell transplantation (HSCT). We aimed to investigate overall survival (OS) of patients with dementia after receiving HSCT. Methods: Among 8,230 patients who underwent HSCT between 2002 and 2018, 5,533 patients younger than 50 years were first excluded. Remaining patients were divided into those who were and were not diagnosed with dementia before HSCT (dementia group: n = 31; no dementia: n = 2,666). Thereafter, among 2,666 participants without dementia, 93 patients were selected via propensity-matched score as non-dementia group. Patients were followed from the day they received HSCT to the occurrence of death or the last follow-up day (December 31, 2018), whichever came first. Results: With median follow-up of 621 days for dementia group and 654 days for non-dementia group, 2 year-OS of dementia group was lower than that of non-dementia group (53.3% [95% confidence interval, 95% CI, 59.0−80.2%] vs. 68.8% [95% CI, 38.0−68.2%], p = 0.076). In multivariate analysis, dementia had significant impacts on OS (hazard risk = 2.539, 95% CI, 1.166−4.771, p = 0.017). Conclusion Our results indicated that patients diagnosed with dementia before HSCT have 2.539 times higher risk of mortality after transplantation than those not having dementia. With number of elderly needing HSCT is increasing, further work to establish treatment guidelines for the management of HSCT in people with dementia is needed.

Objective: No previous study examined impact of dementia in the outcome of allogeneic hematopoietic stem cell transplantation (HSCT). We aimed to investigate overall survival (OS) of patients with dementia after receiving HSCT. Methods: Among 8,230 patients who underwent HSCT between 2002 and 2018, 5,533 patients younger than 50 years were first excluded. Remaining patients were divided into those who were and were not diagnosed with dementia before HSCT (dementia group: n = 31; no dementia: n = 2,666). Thereafter, among 2,666 participants without dementia, 93 patients were selected via propensity-matched score as non-dementia group. Patients were followed from the day they received HSCT to the occurrence of death or the last follow-up day (December 31, 2018), whichever came first. Results: With median follow-up of 621 days for dementia group and 654 days for non-dementia group, 2 year-OS of dementia group was lower than that of non-dementia group (53.3% [95% confidence interval, 95% CI, 59.0−80.2%] vs. 68.8% [95% CI, 38.0−68.2%], p = 0.076). In multivariate analysis, dementia had significant impacts on OS (hazard risk = 2.539, 95% CI, 1.166−4.771, p = 0.017). Conclusion Our results indicated that patients diagnosed with dementia before HSCT have 2.539 times higher risk of mortality after transplantation than those not having dementia. With number of elderly needing HSCT is increasing, further work to establish treatment guidelines for the management of HSCT in people with dementia is needed.