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1.  Prognostic significance of gelsolin and MMP12 in Langerhans cell histiocytosis 
The Korean Journal of Hematology  2012;47(4):267-272.
Background
Gelsolin and matrix metalloproteinase 12 (MMP12) expression has been reported in Langerhans cell histiocytosis (LCH), but the clinical significance of this expression is unknown. We investigated the associations of these proteins with clinical manifestations in patients diagnosed with LCH.
Methods
We performed a retrospective analysis of clinical data from patients diagnosed with LCH and followed up between 1998 and 2008. Available formalin-fixed, paraffin-embedded specimens were used for gelsolin and MMP12 immunohistochemical staining. We analyzed the expression levels of these proteins and their associations with LCH clinical features.
Results
Specimens from 36 patients (20 males, 16 females) with a diagnosis of LCH based on CD1a positivity with clinical manifestations were available for immunohistochemical staining. Median patient age was 62 months (range, 5 to 207). The expression of gelsolin varied; it was high in 17 patients (47.2%), low in 11 patients (30.6%), and absent in 8 patients (22.2%). The high gelsolin expression group had a higher tendency for multi-organ and risk organ involvement, although the trend was not statistically significant. MMP12 was detected only in 7 patients (19.4%) who showed multi-system involvement (P=0.018) and lower event-free survival (P=0.002) in comparison to patients with negative MMP12 staining.
Conclusion
Gelsolin and MMP12 expression may be associated with the clinical course of LCH, and MMP12 expression may be particularly associated with severe LCH. Further studies of larger populations are needed to define the precise role and significance of gelsolin and MMP12 in the pathogenesis of LCH.
doi:10.5045/kjh.2012.47.4.267
PMCID: PMC3538798  PMID: 23320005
Histiocytosis; Langerhans cells; Immunohistochemistry; Gelsolin; Matrix Metalloproteinase 12
2.  Central nervous system (CNS) involvement is a critical prognostic factor for hemophagocytic lymphohistiocytosis 
The Korean Journal of Hematology  2012;47(4):273-280.
Background
Hemophagocytic lymphohistiocytosis (HLH) is a rare multisystem disorder that frequently involves the central nervous system (CNS). We compared the clinical characteristics, treatment, and prognosis of patients with HLH according to the degree of CNS involvement.
Methods
The clinical manifestations, initial laboratory data, treatment, and outcomes for 50 patients diagnosed with HLH and treated at Asan Medical Center between January 1995 and August 2011 were retrospectively reviewed and analyzed. CNS involvement was defined as the presence of neurological symptoms or an elevated white blood cell (WBC) count in the cerebrospinal fluid (CSF).
Results
Among these 50 patients, 23 (46%) developed CNS disease. Among patients with CNS disease, 19 had neurological symptoms, including seizures, altered consciousness, facial palsy, dysarthria, and dysphagia. Four patients had elevated CSF WBC counts without neurological symptoms. Twelve patients had abnormal brain imaging results, including high signal intensity lesions on T2-weighted magnetic resonance imaging (MRI) findings, ventriculomegaly, hemorrhage, atrophy, and leptomeningeal enhancement. Patients with CNS disease had lower ferritin, aspartate aminotransferase (AST), and alanine aminotransferase (ALT) levels as well as reduced 5-year survival as compared to those without CNS disease.
Conclusion
CNS involvement is common among patients with HLH. Overall, patients with CNS disease achieve poorer outcomes than patients without CNS involvement. To improve outcomes, physicians must carefully monitor the neurological manifestations in patients with HLH and administer the appropriate course of intensified chemotherapy to patients with CNS disease.
doi:10.5045/kjh.2012.47.4.273
PMCID: PMC3538799  PMID: 23320006
Hemophagocytic lymphohistiocytosis; Central nervous system involvement; Neurological manifestations; Cerebrospinal fluid; Outcome
3.  Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea 
The Korean Journal of Hematology  2012;47(2):131-135.
Background
Diamond Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that is usually symptomatic in early infancy. The purpose of this study was to assess nationwide experiences of DBA encountered over a period of 20 years.
Methods
The medical records of 56 patients diagnosed with DBA were retrospectively reviewed from November 1984 to July 2010. Fifteen institutions, including 13 university hospitals, participated in this study.
Results
The male-to-female ratio of patients with DBA was 1.67:1. The median age of diagnosis was 4 months, and 74.1% were diagnosed before 1 year of age. From 2000 to 2009, annual incidence was 6.6 cases per million. Excluding growth retardation, 38.2% showed congenital defects: thumb deformities, ptosis, coarctation of aorta, ventricular septal defect, strabismus, etc. The mean hemoglobin concentration was 5.1±1.9 g/dL, mean corpuscular volume was 93.4±11.6 fL, and mean number of reticulocytes was 19,700/mm3. The mean cellularity of bone marrow was 75%, with myeloid:erythroid ratio of 20.4:1. After remission, 48.9% of patients did not need further steroids. Five patients with DBA who received hematopoietic transplantation have survived. Cancer developed in 2 cases (3.6%).
Conclusion
The incidence of DBA is similar to data already published, but our study had a male predilection. Although all patients responded to initial treatment with steroids, about half needed further steroids after remission. It is necessary to collect further data, including information regarding management pathways, from nationwide DBA registries, along with data on molecular analyses.
doi:10.5045/kjh.2012.47.2.131
PMCID: PMC3389062  PMID: 22783360
Diamond Blackfan anemia; Anemia; Congenital defects
4.  New clinical score for disease activity at diagnosis in Langerhans cell histiocytosis 
The Korean Journal of Hematology  2011;46(3):186-191.
Background
The clinical presentation and course of Langerhans cell histiocytosis (LCH) are variable, ranging from an isolated, spontaneously remitting bone lesion to multisystem disease with risk organ involvement. Treatment of LCH ranges from a wait-and-see attitude to intensive multidrug therapy and, in some cases, bone marrow transplantation. It is necessary to develop an objective score for assessing disease activity in patients with LCH. We propose a new clinical scoring system to evaluate disease activity at diagnosis that can predict the clinical outcomes of LCH and correlate it with clinical courses.
Methods
Clinical data, obtained from children diagnosed with LCH at Asan Medical Center and Hanyang University Hospital between March 1998 and February 2009, were studied retrospectively. The scoring system was developed according to the basic biological data, radiological findings, and physical findings and applied to a database containing information on 133 patients.
Results
The median age of the 133 patients (74 male, 59 female) was 52 months (range, 0.6-178 months), and LCH was diagnosed based on CD1a positivity. At diagnosis, the score distributions were highly asymmetrical: the score was between 1 and 2 in 75.9% of cases, 3-6 in 15.8%, and greater than 6 in 8.3%. Initial scores above 6 were highly predictive of reactivation and late complications.
Conclusion
This new LCH disease activity score provides an objective tool for assessing disease severity, both at diagnosis and during follow-up.
doi:10.5045/kjh.2011.46.3.186
PMCID: PMC3208202  PMID: 22065974
Histiocytosis; Langerhans cells; Disease activity; Clinical score
5.  Prognostic significance of the FLT3 ITD mutation in patients with normal-karyotype acute myeloid leukemia in relapse 
Background
Fms-like tyrosine kinase 3 internal tandem duplication (FLT3 ITD) mutation is related to poor prognosis in normal-karyotype acute myeloid leukemia (AML). However, the prognostic significance of the mutation at relapse has not been adequately investigated. We investigated the prognostic significance of the FLT3 ITD mutation at relapse in normal-karyotype AML patients.
Methods
We analyzed 69 normal-karyotype AML patients, in whom paired bone marrow samples taken at initial diagnosis and subsequent relapse were analyzed for the FLT3 ITD mutation at the Asan Medical Center between 1995 and 2009.
Results
Forty patients showed a persistent wild-type genotype, 11 showed the FLT3 ITD mutation at diagnosis and relapse, and 9 lost and another 9 acquired the mutation at relapse. The mutation status at relapse affected the overall survival (OS), with the mutation group showing shorter OS and survival after relapse than the wild-type group did (P<0.001 and P<0.001, respectively), despite having received more frequent stem cell transplantation after relapse than the wild-type group did. However, no difference was detected in the OS and survival after relapse with regard to the mutation status at diagnosis.
Conclusion
The patients with FLT3 ITD mutation at relapse showed poorer prognoses than those without the mutation. However, mutation status at diagnosis did not affect the outcome. These results suggest that, in normal-karyotype AML patients with relapse, the prognostic significance of FLT3 ITD mutation at relapse is greater than that of the mutation status at diagnosis.
doi:10.5045/kjh.2011.46.2.88
PMCID: PMC3128906  PMID: 21747880
AML; Prognosis; FLT3 ITD; Relapse; Normal karyotype
6.  Role of p16 in the pathogenesis of Langerhans cell histiocytosis 
The Korean Journal of Hematology  2010;45(4):247-252.
Background
It has been hypothesized that genetic alteration at the cellular level may have a significant effect on cellular mechanisms controlling the proliferation and apoptosis of Langerhans cells (LCs).
Methods
We examined whether p16 protein expression can be used to predict the outcome of Langerhans cell histiocytosis (LCH). Archival paraffin blocks from children diagnosed with LCH and followed at the Asan Medical Center and Chungnam National University Hospital between March 1998 and February 2008 were studied.
Results
Slides were stained with p16 antibody and evaluated semi-quantitatively using the following scale: negative, no staining; ±, weakly positive; 1+, staining similar to lymphocytes surrounding the LCs; 2+, stronger staining than lymphocytes; 3+, much stronger staining than lymphocytes. Negative and ± groups were assigned to a lower expression group (LEG) and the 1+, 2+, and 3+ groups were assigned to a higher expression group (HEG). The median age of the 51 patients (24 girls, 27 boys) was 49 (range, 0.6-178) months, and LCH was diagnosed based on CD1a positivity. p16 protein was expressed to varying degrees in all but one specimen. There was a greater tendency toward multisystem disease, risk organ involvement, and relapse in the HEG than in the LEG.
Conclusion
The p16 protein may have a significant effect on cellular mechanisms controlling the proliferation and apoptosis of LCs, and thus may influence the clinical outcome and prognosis of LCH.
doi:10.5045/kjh.2010.45.4.247
PMCID: PMC3023050  PMID: 21253426
Genes; p16; Histiocytosis; Langerhans cells; Immunohistochemistry

Results 1-6 (6)