Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity. Moreover, he showed mirror movements in his hands suspected of rhombencephalic malformation, and infranuclear-type facial nerve palsy of the left side of his face, the opposite side to the facial anomalies of Goldenhar syndrome. After conducting radiological studies, he was diagnosed with medullary neuroschisis without pontine malformations and Klippel-Feil syndrome with rib anomalies. Based on these findings, we propose that clinical AMDC can be accompanied by a wide variety of musculoskeletal defects and variable degrees of central nervous system malformations. Therefore, in addition to detailed physical and neurological examinations, imaging studies should be considered in AMDC.
Central Nervous System ; Child, Preschool ; Congenital Abnormalities ; Cranial Nerves ; Facial Nerve ; Goldenhar Syndrome ; Hand ; Humans ; Klippel-Feil Syndrome ; Male ; Medulla Oblongata ; Mesoderm* ; Neurologic Examination ; Paralysis ; Poland Syndrome ; Rhombencephalon ; Ribs

BACKGROUND: The CD34+ cell dose and infused number of committed progenitor cells in transplantation are important factors in hematologic engraftment. However, the relationship between expansion potential of progenitor cells and hematologic engraftment remains controversial. We evaluated whether expansion potential of progenitor cells is a predictive factor of post-transplantation hematologic engraftment. METHODS: Mononuclear cells isolated from mobilized peripheral blood and bone marrow were cultured with cytokine cocktail for 7 days. Progenitor cells and committed progenitors were analyzed using stem cell markers (CD34 and CD133) and lineage specific markers. Hematologic engraftment was defined as neutrophil counts over 500/microliter and platelet counts over 20,000/microliter without transfusion. Acute and chronic graft-versus-host disease (GVHD) were investigated. RESULTS: There was inverse tendency between the number and fold expansion of progenitor cells or committed (granulocytic or megakaryocytic) progenitors and time to engraftment. Especially, fold expansion of CD34(+)/CD33(+) cells was significantly correlated with time to neutrophil engraftment in bone marrow transplantation (r=-0.56, P=0.04). The infused number and fold expansion of lymphoid progenitors were not related to the occurrence of acute or chronic GVHD. CONCLUSIONS: We could not prove that expansion potential of progenitor cells and committed progenitor cells is correlated to hematologic engraftment although there is a correlation between CD34(+)/ CD33(+) cells and time to neutrophil engraftment. But, a further study on the value of expansion potential is required because there is an inverse tendency.
Bone Marrow ; Bone Marrow Transplantation ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Neutrophils ; Platelet Count ; Stem Cells

Osteomesopyknosis is a rare sclerosing bone disorder of autosomal dominant inheritance. We report a first case of osteomesopyknosis in Korea. A 16-year old girl complained of diffuse back pain for 1 year. We performed physical examination, biochemical investigations and imaging studies. A radiograph of spine revealed rugger-jersey vertebra and sandwich vertebra. Bone specific alkaline phosphatase, osteocalcin and C-terminal telopeptides of type I collagen were normal. Only an axial skeleton involvement was shown on the whole body bone scan. This patient was diagnosed to have osteomesopyknosis. Osteomesopyknosis is characterized by normal level of bone turnover marker and an axial bone involvement. Osteomesopyknosis can be occurred in Korea and needs to be considered when patients, especially young patients, suffer from back pain and have only axial osteosclerosis.
Alkaline Phosphatase ; Back Pain ; Bone Diseases ; Collagen Type I ; Female ; Humans ; Korea ; Osteocalcin ; Osteosclerosis ; Physical Examination ; Skeleton ; Spine ; Wills

BACKGROUND: The Wilms' tumor gene (WT1) is located on chromosome 11p13. Several authors have shown that the expression of WT1 gene is associated with prognosis of acute leukemia. It was the aim of this study to investigate the relationship between WT1 positivity and the response to treatment in terms of rate of complete remissions (CR), and survival and to evaluate the prognostic value of WT1 expression in patients with acute leukemia. METHODS: We examined the presence of WT1 specific mRNA in bone marrow samples of 71 patients with acute leukemia at diagnosis (AML 39, ALL 32) by nested RT-PCR. The integrity and the amount of RNA were analyzed by amplification of the -actin gene as an internal control. The relative ratio of WT1 gene expression/ -actin was calculated and classified as not amplified (0), weakly amplified (1+), moderately amplified (2+), or strongly amplified (3+). RESULTS: Thirty-four (47.9%) of the patients with acute leukemia at diagnosis were WT1 PCR positive. Among the WT1 positive patients, 10 patients (14.1%) showed 1+, 20 patients (28.2%) 2+, and 4 patients (5.6%) 3+. The patients with WT1 mRNA expression were younger than those without it in AML. There was a tendency of a higher CR rates in WT1 negative patients than in WT1 positive ones (AML 61.9% vs. 50%, ALL 75.0% vs. 68.8%). The probability of 5 year survival was 62.2% for WT1 negative group and 44.1% for WT1 positive group in all patients. The median survival days accord-ing to levels of WT1 expression was 709 days for negative group, 310 days for 1+ or 2+ groups and 294 days for 3+ group. CONCLUSIONS: The present data suggest a clinical relevance of WT1 expression for the achieve-ment of CR and long term survival in acute leukemia. Analysis of WT1 expression with bone mar-row aspirates at the diagnosis of acute leukemia may be useful to predict prognosis.
Bone Marrow ; Diagnosis ; Gene Expression* ; Humans ; Leukemia* ; Polymerase Chain Reaction ; Prognosis ; RNA ; RNA, Messenger ; Wilms Tumor

Recent advances in chemotherapy have led to increased survival rates for patients with hematologic malignancies. However, standard chemotherapies, including alkylating agents for non-Hodgkin lymphoma, could induce therapy-related myeloid neoplasms (t-MNs), a group of disorders categorized by the World Health Organization in 2008. Here, we report a case of coexistence of bone marrow (BM)-involved refractory marginal zone B-cell lymphoma (MZL) and therapy-related myelodysplastic syndrome (t-MDS). Simultaneous presence of refractory lymphoma and t-MN in the BM is rare, and this is the first report in Korea. The patient received allogeneic hematopoietic stem cell transplantation (HSCT) to cure both the MZL and t-MDS. Since the HSCT, he has been stable for 21 months without any evidence of recurrence.
Alkylating Agents ; Bone Marrow ; Drug Therapy ; Hematologic Neoplasms ; Hematopoietic Stem Cell Transplantation ; Humans ; Korea ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone* ; Lymphoma, Non-Hodgkin ; Myelodysplastic Syndromes* ; Recurrence ; Survival Rate ; World Health Organization

BACKGROUND: World Health Organization (WHO) proposed a new classification of myelodysplastic syndrome (MDS) in 1999, based on significant modifications of the original FAB proposals. The aim of the present study was to validate the new classification with respect to prognostic importance. METHODS: Two hundred and eighteen patients were diagnosed with MDS according to the FAB criteria between August 1989 and June 2001 in the Asan Medical Center. They were studied retrospectively to evaluate morphological, clinical and cytogenetic data for diagnosis and clinical outcomes with long-term follow up, and reclassified with a new WHO classification. RESULTS: According to the original FAB classification, 218 patients were classified as RA 78, RARS 17, RAEB 76, RAEB-t 38 and CMML 9. They were reclassified to the WHO classification to RA 24, RARS 6, RCMD 51, RCMD-RS 11, RAEB-1 42, RAEB-2 51, del(5q) syndrome 1 and unclassifiable 2. Twenty-one cases of RAEB-t and 9 cases of CMML were reclassified to acute myeloid leukemia and myelodysplastic syndrome/myeloproliferative disease (MDS/MPD). Among the reclassified groups in the WHO classification, there is a significant difference in prognosis between RA and RCMD (median survival, not reached vs. 28.4 months, P=0.020), and in leukemic transformation between RAEB-1 and RAEB-2 (5% vs. 37%, P=0.001). CONCLUSIONS: These data provide the proper evidence, especially of prognosis and leukemic transformation for the WHO classifications. We recommended using the WHO classification rather than the FAB classification of the diagnosis of MDS.
Anemia, Refractory, with Excess of Blasts ; Chungcheongnam-do ; Classification* ; Cytogenetics ; Diagnosis ; Follow-Up Studies ; Humans ; Leukemia, Myeloid, Acute ; Myelodysplastic Syndromes* ; Prognosis ; Retrospective Studies ; World Health Organization

The Philadelphia (Ph) chromosome is a well- known chromosome abnormality in adults with B-lineage ALL, and is associated with a poor prognosis. This study compared the clinical manifestations and prognosis in adult Ph-positive and Ph-negative ALL patients. MATERIALS AND METHODS: We retrospectively analyzed the clinical records of adult patients newly diagnosed as B-lineage ALL, between January 1995 and February 2001. Fifty five patients were included in this study. We divided the patients into Ph-positive and Ph-negative groups. RESULTS: Eighteen of the 55 patients (32.7%) were found to have the Ph chromosome. At initial diagnosis, the Ph-positive patients had higher circulating leukocyte counts, lower platelet counts and had a greater tendency to bleed, than the Ph-negative group. The complete remission rates were 83.3% and 83.8% for the Ph-positive and the Ph-negative groups, respectively. Four of the Ph-positive, and 13 of the Ph-negative, patients underwent allogenic bone marrow transplantation. The median follow-up for the surviving patients was 39.3 months. The three-year survival rates were 10.4% and 51.8% for the Ph-positive and the Ph-negative groups, respectively. The median disease-free survival was 7.7 months for the Ph-positive group, but did not reach the median value in the Ph-negative group. Among the Ph-positive patients, age was the only factor that had an impact on the disease outcome. CONCLUSION: In adult B-lineage ALL, the Ph-positive patients had similar complete remission rates to other patients; however, the remission was of shorter duration, with a higher relapse rate in the Ph-positive patients. More effective treatments are needed to improve the survival of the Ph-positive patients.
Adult* ; Bone Marrow Transplantation ; Chromosome Aberrations ; Diagnosis ; Disease-Free Survival ; Follow-Up Studies ; Humans ; Hydrogen-Ion Concentration ; Leukocyte Count ; Philadelphia Chromosome ; Platelet Count ; Prognosis* ; Recurrence ; Retrospective Studies ; Survival Rate

BACKGROUND: 3q21q26 syndrome includes chromosomal abnormalities of inv(3)(q21q26), t(3;3) (q21;q26), and ins(3;3)(q26;q21q26). It causes hematological diseases by the leukemogenic mechanism that the enhancer of ribophorin I gene in 3q21 induces the transcription of ecotropic viral integration site-1 gene in 3q26. Recently, it has been proposed that the 3q21q26 syndrome may be preceded by diabetes insipidus (DI), particularly when combined with monosomy 7, and is a unique disease entity. METHODS: From May 2001 to June 2006, a total of 5 patients with hematologic malignancy were found to have 3q21q26 syndrome and monosomy 7. Laboratory findings, clinical data, and association with DI were investigated. RESULTS: The rearrangement type of 3q21q26 was inv(3)(q21q26) in four patients and t(3;3)(q21; q26) in one. These patients' French American British types were AML M1, M2, M4 and M7, showing evident dysmegakaryopoiesis. Aberrant antigenic expressions of CD7 and CD56 were observed. The platelet count was relatively high as AML. All the five patients were refractory or in early relapse. Patient 5 was diagnosed with AML M7 20 days after being diagnosed with DI. While DI was well controlled with oral desmopressin, leukemia was refractory to chemotherapy. CONCLUSIONS: This study supports the recent opinion that 3q21q26 syndrome with monosomy 7 combined with DI is a disease of unique characteristics. In the relation between DI and monosomy 7 or 3q21q26 syndrome, there has been no explanation about how acquired abnormality of hematopoietic cells affects production of DDAVP by neurohormonal cells in hypothalamus. The mechanism needs further study, and this research should contribute to the understanding of genetic roles in leukemia appearing in different forms.
Adult ; Chromosome Disorders/*complications/*diagnosis/genetics ; *Chromosomes, Human, Pair 3 ; Diabetes Insipidus, Neurogenic/*complications ; Female ; Hematologic Neoplasms/*complications ; Humans ; Inversion, Chromosome ; Karyotyping ; Male ; Middle Aged ; Monosomy ; Prognosis ; Syndrome ; Translocation, Genetic

No abstract available.
Humans ; Multiple Myeloma ; Plasma Cells ; Plasma ; Precursor Cell Lymphoblastic Leukemia-Lymphoma

Neoplastic lymphoid cells of chronic lymphocytic leukemia (CLL) typically co-express CD5 and CD23. CD5-negative CLL is a rare variant of CLL; only 1 case of it has been reported in Korea. We describe a case of CD5-negative CLL. A 48-year-old female complained of a palpable neck mass that had been present for over 1 year. The initial WBC count was 7,300/microliter, with 69% lymphocytes. A CT scan revealed multiple enlarged lymph nodes, both of each in the neck, axilla, and common iliac areas. The athologic results of the cervical lymph node was consistent with small lymphocytic lymphoma, of which tumor cells do not express CD5. In a bone marrow study, neoplastic lymphoid cells comprise 34.8% of all nucleated cells, which showed small size, round nuclei with clumped chromatin, and sparse cytoplasm. Immunophenotyping of small lymphoid cells displayed phenotypes that were CD45-, CD23-, CD20-, and CD19-positive, but CD5-negative. The patient was diagnosed with CD5-negative CLL, and has been followed up for 2.5 years after chemotherapy.
Antigens, CD5 ; Axilla ; Bone Marrow ; Chromatin ; Cytoplasm ; Female ; Humans ; Immunophenotyping ; Korea ; Leukemia, Lymphocytic, Chronic, B-Cell ; Lymph Nodes ; Lymphocytes ; Middle Aged ; Neck ; Phenotype