BACKGROUND: It is important to distinguish between the constitutional and acquired chromosomal abnormality in bone marrow of the patients with the hematologic malignancies, since the constitutional chromosomal abnormality will be continuously observed, even though in remission status of the disease. In this study, we investigated the incidence and types of constitutional chromosomal abnormalities in patients with the hematologic malignancies. METHODS: This study included 396 patients with benign hematologic disorders and 634 with hematologic malignancies. The cytogenetic analysis of bone marrow aspirates were performed by direct or/and short term culture (24-48 hours). The constitutional chromosomal abnormality was confirmed by phytohemagglutinin-stimulated 72 hour culture with peripheral blood lymphocytes. RESULTS: The incidence of constitutional chromosomal abnormalities was 2.8% in patients with benign hematologic disorders and 2.4% in patients with hematologic malignancies. Among the patients with constitutional chromosomal abnormalities and hematologic malignancies, 12 were males and 3 females. Eleven patients had an age greater than 20 years. One patient had trisomy 21, 1 reciprocal translocation, 1 robertsonian translocation, 3 sex chromosome aneuploidy and 9 inv(9). Two patients showed both constitutional and acquired chromosomal abnormalities on the same chromosome. The constitutional chromosomal abnormality was continuously observed in remission status of hematologic malignancies. CONCLUSIONS: The incidence of the constitutional chromosomal abnormalities was low in patients with hematologic malignancies, but the chromosome study with peripheral blood or skin fibroblasts may be necessary for determining accurate cytogenetic response during follow up.
Aneuploidy ; Bone Marrow ; Chromosome Aberrations* ; Cytogenetic Analysis ; Cytogenetics ; Down Syndrome ; Female ; Fibroblasts ; Hematologic Neoplasms* ; Humans ; Incidence* ; Lymphocytes ; Male ; Sex Chromosomes ; Skin

ider(9)(q10)t(9;22)(q34;q11.2) is an isochromosome for the long arm of a derivative chromosome 9 generated by a t(9;22), resulting from the deletion of the short arm of chromosome 9. It is known to be rarely observed in acute lymphoblastic leukemia (ALL) or lymphoblastic crisis transformed from chronic myelogenous leukemia. We herein describe a 26-year-old female patient with precursor B-cell ALL, cytogenetically characterized by ider(9)(q10)t(9;22). Fluorescence in situ hybridization analysis showed two ABL-BCR fusion signals on the derivative chromosome 9 and one BCR-ABL fusion signal on the derivative chromosome 22. Although a t(9;22) and a deletion of the short arm of chromosome 9 are known to be associated with a poor prognostic factor in acute lymphoblastic leukemia, a larger study is needed to determine the prognosis of ider(9)(q10)t(9;22) cases.
Adult ; Arm ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Female ; Fluorescence ; Humans ; In Situ Hybridization ; Isochromosomes ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Precursor Cells, B-Lymphoid ; Prognosis

BACKGROUND: CpG islands' methylation of p15 promoter region is associated with inactivation of the p15 gene, which negatively regulates the cell cycle. We investigated the prevalence and prog-nostic significance of p15 gene methylation in AML and ALL patients, and sequentially analyzed p15 methylation during the follow-up. METHODS: This study included 52 and 25 bone marrow aspirates from 33 AML and 22 ALL patients, respectively; p15 methylation was analyzed by methylation specific PCR. RESULTS: The methylation of the p15 gene was observed in 57% of newly diagnosed AML, 70% of relapsed AML, and 23% of newly diagnosed ALL patients. Moreover, p15 methylation was found in 65% of AML and 33% of ALL patients with a normal karyotype. No association was found between p15 methylation status and prognostic factors or clinical outcomes; however, p15 methylation status correlated well with the clinical and pathologic features of disease status during the follow-up. CONCLUSIONS: The methylation of the p15 gene may be of use as a marker for disease monitoring of acute myelogeneous leukemia, especially in patients with a normal karyotype, although p15 methy-lation doesn't seem to be associated with prognosis.
Bone Marrow ; Cell Cycle ; Follow-Up Studies ; Humans ; Karyotype ; Leukemia* ; Methylation* ; Polymerase Chain Reaction ; Prevalence* ; Prognosis ; Promoter Regions, Genetic

Early diagnosis of acute promyelocytic leukemia (APL) depends primarily on morphological recognition before the presence of t(15;17) or PML-RAR gene rearrangement is confirmed. But the diagnosis is difficult to be made, if typical APL morphologic features are not found. Here, we describe a 32- year old man who had been diagnosed as APL. He relapsed with AML M1 like phenotype, lacking the typical features of APL. At relapse, t(15;17) and PML-RAR alpha gene rearrangement were detected. After 14 days of chemotherapy and all-trans retinoic acid, the phenotype changed from the AML M1 like features to the typical hypergranular APL. Awareness of atypical morphologic subtypes found in APL is important. And identification of t(15;17) or PML/RAR alpha rearrangement will be helpful in diagnosis of atypical APL.
Diagnosis ; Drug Therapy ; Early Diagnosis ; Gene Rearrangement ; Leukemia, Promyelocytic, Acute* ; Phenotype ; Recurrence* ; Tretinoin

BACKGROUND: The serologic tests for syphilis infection have been performed manually, but the procedures are time-consuming and interpretations may be subjective. Recently, automated assays were developed for rapid and efficient testing for syphilis infection. In this study, we evaluated the performances of IMMUNOTICLES Auto3 RPR and Auto3TP (A&T Corporation, Japan) using latex agglutination turbidimetry method. METHODS: Using 236 serum samples referred for syphilis at Ewha Womans University, Mokdong Hospital, between March 2004 and April 2007, we evaluated precision, linearity, detection limit and compared with the results of manual serologic tests, RPR (RPR card test, ASAN Pharmaceutical, Korea) and TPHA (ASAN-TPHA, ASAN Pharmaceutical). RESULTS: The within-run and between day precisions of Auto3RPR and Auto3TP were from 2.1% to 4.8%. The linearity was good up to 5.0 RU for Auto3RPR and to 250 TU for Auto3TP. Agreement of Auto3RPR with RPR was 65.7% (155/236) and 32.6% of patients (77/236) were RPR positive and Auto3RPR negative. RPR titers were less than 1:8 in 99% of these discrepant samples (76/77) and 65% (50/77) were latent infection and the others were false positive (32%, 27/77). Agreement of Auto3TP with TPHA was 97.1%. CONCLUSIONS: IMMUNOTICLES Auto3RPR and Auto3TP may be useful for rapid and efficient testing for syphilis. However, discrepant results were present in patients with low titer RPR positivity and method of reporting shoud be considered in individual clinical situation. In addition, linear range was not wide and further study is needed for reporting of quantitative results.
Agglutination ; Automation ; Chungcheongnam-do ; Female ; Humans ; Latex ; Limit of Detection ; Nephelometry and Turbidimetry ; Serologic Tests ; Syphilis*

BACKGROUND: The origin of hematologic malignancies has been known to be monoclonal. In most cases, the same or obviously related chromosomal abnormliaties are found and cytogenetically unrelated clones are uncommon. We evaluated the prevalence and clinical significance of patients with cytogenetically unrelated clones in hematologic malignancies. METHODS: Included in the study were 324 patients who had been diagnosed with the following hematologic malignancies at Ewha Womans University, Mokdong Hospital: AML (93 cases), MDS (27), CML (51), myeloproliferative disorder (38), acute biphenotypic leukemia (8), ALL (44), CLL (9), multiple myeloma (MM, 40), and Non-Hodgkin's lymphoma with bone marrow involvement (14). RESULTS: The overall prevalence of hematologic malignancies with cytogenetically unrelated clones at diagnosis was 0.9% (3/324). Of AML patients, 1.1% (1/93) had unrelated clones, CLL 11.1% (1/9), and MM 2.5% (1/40). The other hematologic malignancies did not show cytogenetically unrelated clones. The AML patient had add(11)(q23)/add(1)(p36.3); the CLL patient had +12/ del(13)(q22); and the MM patient had +der(1)t(1;13)(p12;q12), -13/-X, +5, +7, -8, -12, -13, add(14) (q32), +15, -16, +19, -20, -22, -22. We also detected an unrelated clone of trisomy 8 in Philadelphia chromosome negative cells from a CML patient who was treated with imatinib mesylate. CONCLUSIONS: Hematologic malignancies with cytogenetically unrelated clones are uncommon. This report highlights the importance of the conventional chromosomal analysis in that an unrelated clone in philadelphia chromosome negative cells may be detected in a CML case.
Bone Marrow ; Clone Cells* ; Diagnosis ; Female ; Hematologic Neoplasms* ; Humans ; Leukemia, Biphenotypic, Acute ; Lymphoma, Non-Hodgkin ; Mesylates ; Multiple Myeloma ; Myeloproliferative Disorders ; Philadelphia Chromosome ; Prevalence ; Trisomy ; Imatinib Mesylate