BACKGROUND: In patients with isolated thrombocytopenia, but without significant dysplasia, diagnosis of idiopathic thrombocytopenic purpura (ITP) rather than myelodysplastic syndrome (MDS) may be taken into account. It is important to make an accurate diagnosis because different treatments are used for ITP and MDS. The purpose of this study was to investigate the clinical and hematologic features of patients who were initially diagnosed as ITP but had cytogenetic abnormalities. METHODS: We retrospectively reviewed cytogenetic studies of 100 patients who were diagnosed as ITP from 2004 to 2009 at Mokdong Hospital of Ewha Womans University based on clinical features and hematologic studies. Bone marrow pathology was re-evaluated based on 2008 WHO classification. Cytogenetic analysis was performed by 24-48 hr culture of bone marrow aspirates without using mitogens and 20 metaphases were analyzed. RESULTS: Of the 100 patients diagnosed as ITP initially, three patients (3%) had cytogenetic abnormalities. They had no thrombocytopenia-related symptoms and thrombocytopenia was found accidentally. The numbers of megakaryocytes in bone marrow were increased and dysplasia was not found in megakaryocyte, erythroid, and myeloid cell lineages. The proportion of blasts was within normal limits. Clonal chromosomal abnormalities found were der(1;7)(q10;p10), add(9)(q12), or t(7;11)(p22;q12). Presumptive diagnosis of MDS or diagnosis of idiopathic cytopenia of undetermined significance (ICUS) was made according to 2008 WHO classification. During the follow up, disease progression was not found. CONCLUSIONS: In patients with suspected ITP, cytogenetic analysis should be done. If specific clonal chromosomal abnormality is found, presumptive diagnosis of MDS has to be considered and close follow up is needed.
Adult ; Bone Marrow Cells/cytology ; Cell Lineage ; Chromosome Aberrations ; Diagnosis, Differential ; Female ; Humans ; Male ; Megakaryocytes/immunology/pathology ; Middle Aged ; Myelodysplastic Syndromes/*diagnosis/genetics/pathology ; Purpura, Thrombocytopenic, Idiopathic/*diagnosis/genetics/pathology ; Retrospective Studies

PURPOSE: The purpose of this study was to evaluate the radiological and clinical results of modified scarf osteotomy for hallux valgus with lesser metatarsalgia. MATERIALS AND METHODS: Total 19 patients (24 feet) were reviewed by medical records and radiographs. All patients were female and the mean age at the time of operation was 46.4 years. The mean follow-up time was 14.8 months. We modified original scarf osteotomy by adding the procedure of closing wedge osteotomy at the medial side of distal fragment for achieving of the supination of the first metatarsal head. Additionally, Akin osteotomy of the first proximal phalanx was done in 16 patients (20 feet) and no lesser metatarsal operation was done. First-second intermetatarsal, hallux valgus and distal metatarsal articular angles were analyzed radiologically before and after the operation. And 3-dimensional CT was used to evaluate the supination of the first metatarsal head. Clinical results were assessed by American Orthopaedic Foot and Ankle Society (AOFAS) score and persistence of lesser metatarsalgia. RESULTS: First-second intermetatarsal and hallux valgus angles were reduced from the mean pre-operative values of 14.2degrees and 32.5degrees to 8degrees and 12.5degrees, respectively, 12 months after the operation. And the supination of the first metatarsal head was confirmed by 3-dimensional CT. The mean AOFAS score improved from 41.4 points pre-operatively to 87.2 points at follow-up. Lesser metatarsalgia still remained in 2 patients (2 feet). CONCLUSION: Modified scarf osteotomy would be an effective surgical procedure, especially, for achieving downward displacement and supination of the first metatarsal head in hallux valgus with lesser metatarsalgia.
Animals ; Ankle ; Displacement (Psychology) ; Female ; Follow-Up Studies ; Foot ; Hallux ; Hallux Valgus ; Head ; Humans ; Medical Records ; Metatarsal Bones ; Metatarsalgia ; Osteotomy ; Supination

Ovarian Sertoli-Leydig cell tumors are rare sex cordstromal tumors, and these neoplasms account for less than 0.5% of all ovarian tumors. Those are more often encountered in young women between the ages of 20 and 30 years who usually become virilized. Recently, we experienced an unusual case of Sertoli-Leydig cell tumor with mucinous heterologous elements in a 71-year-old postmenopauseal woman. We present it with brief review of literatures.
Aged ; Cystadenoma, Mucinous ; Female ; Humans ; Mucins* ; Postmenopause ; Sertoli-Leydig Cell Tumor*

Chronic lymphocytic leukemia (CLL) and multiple myeloma (MM) are both lymphoproliferative disease occurring in different stages of B cell oncogeny. An increased incidence of secondary malignancies in patients with CLL is well recognized, however, the coexistence of both disorders in the same patient was very rare. Furthermore, clonal relationship between these diseases has not been clearly established. We report the occurrence of MM during the course of CLL. A 68-year-old patient was presented with general weakness and bone marrow aspiration showed a hypercellular marrow with 80% mature lymphocytes. At 5 months after diagnosis of CLL, bone marrow of the patient showed increased immature plasma cells. Serum protein electrophoresis showed monoclonal gammopathy and serum immunoelectrophoresis IgG kappa type monoclonality. The patient received six cycles of VAD (vincristine, adriamycin, dexamethasone) chemotherapy, but died of pneumonia and sepsis.
Aged ; Bone Marrow ; Diagnosis ; Doxorubicin ; Drug Therapy ; Electrophoresis ; Humans ; Immunoelectrophoresis ; Immunoglobulin G ; Incidence ; Leukemia, Lymphocytic, Chronic, B-Cell* ; Lymphocytes ; Multiple Myeloma* ; Paraproteinemias ; Plasma Cells ; Pneumonia ; Sepsis

Isolated extramedullary relapse of acute lymphoblastic leukemia (ALL) with sparing of the marrow after allogeneic stem cell transplantation is not common. We report a 32-year-old female patient with isolated ovarian relapse of T-cell ALL 18 months after allogeneic stem cell transplantation. She had no evidence of concomitant relapse in the bone marrow.
Adult ; Bone Marrow* ; Female ; Hematopoietic Stem Cell Transplantation* ; Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Recurrence ; Stem Cell Transplantation ; T-Lymphocytes

BACKGROUND: The t(11;14)(q13;q32) is known to be one of the most frequent chromosomal abnor-malities found in multiple myeloma (MM). However, studies on t(11;14) in MM have been problemat-ic due to the fact that MM cells proliferate poorly in vitro. The purpose of our study is to evaluate inci-dence, clinical, and hematologic findings of MM with IgH and cyclin D1 gene rearrangement and to investigate the usefulness of interphase FISH (fluorescence in situ hybridization). METHODS: The study group included 36 patients (23 newly diagnosed MM, 8 relapsed MM, 5 per-sistent MM after treatment) admitted to Mokdong and Gil Hospital from November 1998 to July 2002. Interphase FISH was performed with IGH/CCND1 dual color, dual fusion translocation probe (Vysis Inc, Downers Grove, IL USA), using bone marrow mononuclear cells. RESULTS: Incidence of IgH and cyclin D1 gene rearrangement by interphase FISH was 19%. One patient with normal karyotype and another patient without any metaphase cells showed IgH and cyclin D1 gene rearrangement with interphase FISH. The lambda light chain subtype was more frequently found in patients with rearrangement (4/5, 80%) than those without rearrangement (6/23, 26%) (P<0.05). No significant differences were found in other clinical and hematologic findings in the two groups. CONCLUSIONS: We suggest that MM with IgH and cyclin D1 gene rearrangement is associated with the expression of lambda light chain. Interphase FISH may be helpful in samples with normal karyotype or no metaphase cells for detection of gene rearrangement of MM.
Bone Marrow ; Cyclin D1* ; Cyclins* ; Gene Rearrangement ; Genes, bcl-1* ; Humans ; Incidence ; Interphase* ; Karyotype ; Metaphase ; Multiple Myeloma*

BACKGROUND: Chimerism analysis used to be one of the most valuable methods for monitoring patients after allogeneic hematopoietic stem cell transplantation (SCT). The relationship between the mixed chimerism status and the risk of relapse has been controversial. We analysed the clinical significance of mixed chimerism for the prediction of relapse after SCT. METHODS: Between October 2000 and January 2002, 16 patients with haematologic malignancies treated with SCT were included in this study. The median follow-up periods were 11.5 months (range 5-32 months) after SCT. For chimerism analysis, STR (D13S317, D5S818, D7S820) and VNTR (D1S80, D17S30) loci were amplified by PCR. Patients who exhibited complete donor hematopoiesis at all times during the follow-up period were defined as CCG (complete chimerism group) and those who showed mixed chimerism at least once at any time were definded as the MCG (mixed chimerism group). Relapse was considered based on clinical, hematologic and cytogenetic findings. RESULTS: MCG was 63% (10/16). Relapse was observed in 80% (8/10) of MCG and none of CCG (P>0.05). Among 8 relapsed patients, two patients showed MC 1 month prior to relapse and 4 patients changed to MC from CC at relapse status. The remaining 1 patient continued to show CC. CONCLUSIONS: Mixed chimerism seems to be associated with a high risk of relapse. For early detection of relapse, chimerism analysis may need to be performed at shorter time intervals than once a month.
Chimerism* ; Cytogenetics ; Follow-Up Studies ; Hematopoiesis ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans ; Polymerase Chain Reaction ; Recurrence ; Tissue Donors

BACKGROUND: Chronic Myelogenous Leukemia (CML) is the first proven disease in which gene abnormality, t(9;22)(q34;q11) can cause the disease to occur in humans. Recently, targeted therapy with STI571 (GleevecTM), signal transduction inhibitor for BCR-ABL kinase was developed and can induce cytogenetic remission in patients with CML. Hypermetaphase-FISH (HMF)/Interphase-FISH (I-FISH, Fluorescence in situ hybridization) aiming specific chromosomal abnormalities are unambiguous quantitative molecular genetic methods for individual Philadelphia (Ph1) chromosome positive cells. We evaluated the change of Ph1 chromosome in CML patients during STI571 therapy using HMF/I- FISH. METHODS: Twenty one patients with CML were treated with STI571 which was provided from Norvatis pharmaceutical company as Expanded Access Program for Compassionate Use from May 2001 at the doses of 200-600 mg/day orally. Median age of this cohort was 37 years old and median follow up duration was 113 days (48~165 days). HMF or I-FISH using bone marrow or peripheral blood were performed on the sample at baseline, day 14, day 28 and then monthly. RESULTS: Complete cytogenetic responses which were assessed by HMF/I-FISH counting several hundreds cells were found in 8 of 21 patients. Among them, 4 of 10 chronic phase, 2 of 2 accelerate phase and 2 of 8 blastic crisis patients achieved cytogenetic complete response. One patient with blastic crisis was relapsed after achieving cytogenetic complete response. Grade III-IV thrombocytopenia and neutropenia were noticed in 8 and in 7 patients respectively, but there were no major bleeding episodes nor neutropenic fever. CONCLUSION: BCR-ABL tyrosine kinase inhibitor, STI571 was tolerable for patients with CML. The majority of patients achieved hematologic remission and 8 out of 21 patients achieved complete cytogenetic response regardless of their disease stage. Cytogenetic response of Ph1 chromosome can be quantified accurately with HMF/I-FISH.
Adult ; Bone Marrow ; Chromosome Aberrations ; Cohort Studies ; Compassionate Use Trials ; Cytogenetics ; Fever ; Fluorescence ; Follow-Up Studies ; Fusion Proteins, bcr-abl ; Hemorrhage ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive* ; Molecular Biology ; Neutropenia ; Philadelphia Chromosome* ; Phosphotransferases ; Signal Transduction ; Thrombocytopenia ; Imatinib Mesylate

Chronic neutrophilic leukemia is a rare myeloproliferative disorder. We have experienced a typical case of chronic neutrophilic leukemia in a 76-year-old man who complained abdominal distension due to hepatosplenomegaly. White blood cell count of peripheral blood was 50,500/nL with 90% segmented neutrophils. The underlying disease for a leukemoid reaction had not been detected. Leukocyte alkaline phosphatase score and the serum levels of vitamin B12 and uric acid were elevated. Chromosome study showed a normal karyotype without Philadelphia chromosome or bcr/abl rearrangement. Phorbol myristate acetate-activated respiratory burst activity of neutrophils measured with chemiluminescence showed increased activity.
Aged ; Alkaline Phosphatase ; Humans ; Karyotype ; Leukemia, Neutrophilic, Chronic* ; Leukemoid Reaction ; Leukocyte Count ; Leukocytes ; Luminescence ; Myeloproliferative Disorders ; Myristic Acid ; Neutrophils* ; Philadelphia Chromosome ; Respiratory Burst* ; Uric Acid ; Vitamin B 12

The occurrence of disseminated tuberculosis in combination with acute leukemia is rare. A 28 year old male undergoing induction chemotherapy for AML presented with fever of unknown origin. Upon the studies to make the diagnosis this case turned out to be disseminated tuberculosis including meningitis. The chest CT showed multiple enlarged mediastinal lymphadenopathy. The Brain CT showed noncommunicating obstructive hydrocephalus. Disseminated tuberculosis was pathologically proven by theliver, bone marrow and mediastinal lymph node biopsies. As clinical course improved, radiological lesions were completely resolved after antituberculosis therapy. It is important to consider disseminated tuberculosis for the etiology of FUO inpatient with AML who had suffered from long standing fever.
Adult ; Biopsy ; Bone Marrow ; Brain ; Diagnosis ; Fever ; Fever of Unknown Origin ; Humans ; Hydrocephalus ; Induction Chemotherapy ; Inpatients ; Leukemia ; Leukemia, Myeloid, Acute* ; Lymph Nodes ; Lymphatic Diseases ; Male ; Meningitis ; Tomography, X-Ray Computed ; Tuberculosis* ; Tuberculosis, Meningeal*