No abstract available.
Adult ; Biomarkers, Tumor/genetics ; Bone Marrow/pathology ; Calreticulin/genetics ; Erythropoietin/blood ; Female ; Fusion Proteins, bcr-abl/*genetics ; Hematocrit ; Hemoglobins/analysis ; Humans ; Janus Kinase 2/genetics ; Male ; Middle Aged ; Mutation ; Myeloproliferative Disorders/*diagnosis/genetics ; Polycythemia Vera/*diagnosis/genetics ; Receptors, Thrombopoietin/genetics ; Thrombocythemia, Essential/diagnosis ; World Health Organization

Multiplex reverse transcription polymerase chain reaction (mRT-PCR) has recently emerged as an alternative to cytogenetics. We designed and used simplified mRT-PCR system as a molecular screen for acute leukemia. Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. A total of 121 diagnostic acute leukemia specimens were studied, comparing the mRT-PCR system with standard cytogenetics. Fifty-six cases (46.3%) had fusion transcripts revealed by our mRT-PCR assay. The concordance rate between mRT-PCR and cytogenetics was 91.7%. However, false negative results were found in three cases who have inv(16), t(4;11) or t(11;19)(q23;p13.1), respectively. Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected. This mRT-PCR assay is a useful screening tool in acute leukemia because it provides rapid and reliable detection of clinically important chimeric transcripts. In addition, cryptic translocations provide additional genetic information that could be clinically useful.
Acute Disease ; Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Chromosome Inversion ; Cytogenetics ; Female ; Humans ; Infant ; Leukemia/*diagnosis/genetics/metabolism ; Male ; Middle Aged ; *Multiplex Polymerase Chain Reaction ; Oncogene Proteins, Fusion/*genetics ; Prognosis ; Translocation, Genetic ; Young Adult

Peripheral T cell lymphoma, unspecified (PTCL-U) comprises a heterogenous group of mature T-cell lymphomas that do not match with any defined T-cell entities in the current classification system. A 68-year-old man presented with extensive erythematous to brownish ulcerative tumors with yellowish discharge on the neck, trunk, and both upper extremities that had persisted for the past 7 months. Histological findings showed medium- to large-sized pleomorphic lymphocytes with cellular atypia infiltrating the deep dermis and subcutis. Immunohistochemical analysis of specimens from this patient revealed positive staining for CD2, CD45, and granzyme B and mildly positive staining for CD3, CD4, CD30, and CD79a. Based on these clinico-pathological findings, the patient was finally diagnosed with PTCL-U. We report herein a rare case of PTCL-U presenting as multiple ulcerative tumors.
Aged ; Classification ; Dermis ; Granzymes ; Humans ; Lymphocytes ; Lymphoma, T-Cell ; Lymphoma, T-Cell, Peripheral ; Neck ; T-Lymphocytes ; Ulcer ; Upper Extremity

BACKGROUND: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Alveolar RMS (ARMS) is characterized by FOXO1-related chromosomal translocations that result in a poorer clinical outcome compared with embryonal RMS (ERMS). Because the chromosomal features of RMS have not been comprehensively defined, we analyzed the clinical and laboratory data of childhood RMS patients and determined the clinical significance of chromosomal abnormalities in the bone marrow. METHODS: Fifty-one Korean patients with RMS < 18 years of age treated between 2001 and 2015 were enrolled in this study. Clinical factors, bone marrow and cytogenetic results, and overall survival (OS) were analyzed. RESULTS: In total, 36 patients (70.6%) had ERMS and 15 (29.4%) had ARMS; 80% of the ARMS patients had stage IV disease. The incidences of bone and bone marrow metastases were 21.6% and 19.6%, respectively, and these results were higher than previously reported results. Of the 40 patients who underwent bone marrow cytogenetic investigation, five patients had chromosomal abnormalities associated with the 13q14 rearrangement. Patients with a chromosomal abnormality (15 vs 61 months, P=0.037) and bone marrow involvement (17 vs 61 months, P=0.033) had a significantly shorter median OS than those without such characteristics. Two novel rearrangements associated with the 13q14 locus were detected. One patient with concomitant MYCN amplification and PAX3/FOXO1 fusion showed an aggressive clinical course. CONCLUSIONS: A comprehensive approach involving conventional cytogenetics and FOXO1 FISH of the bone marrow is needed to assess high-risk ARMS patients and identify novel cytogenetic findings.
Arm ; Bone Marrow* ; Child* ; Chromosome Aberrations ; Cytogenetics* ; Humans ; Incidence ; Neoplasm Metastasis ; Rhabdomyosarcoma* ; Sarcoma ; Translocation, Genetic

No abstract available.
Chromosome Aberrations ; Humans ; Karyotype ; Leukemia, Myeloid, Acute/*diagnosis/etiology/mortality ; Myelodysplastic Syndromes/complications/*diagnosis ; Myeloproliferative Disorders/complications/*diagnosis ; Philadelphia Chromosome ; Survival Rate

No abstract available.
Classification* ; Leukemia*

BACKGROUND: The objective of this study was to investigate the frequency and characteristics of HLA-DR⁻/CD34⁻ acute myeloid leukemia (AML) also known as acute promyelocytic leukemia (APL)-like AML. METHODS: This study included 683 newly diagnosed patients with AML. After exclusion of 211 patients with recurrent genetic abnormalities, one with acute panmyelosis with myelofibrosis, two with myeloid leukemia associated with Down syndrome, and two devoid of metaphase cells, we classified the remaining 467 patients as follows: group 1, HLA-DR⁺/CD34⁺ (typical AML); group 2, HLA-DR⁺/CD34⁻ or HLA-DR⁻/CD34⁺; group 3, APL-like AML. RESULTS: Group 1 comprised 294 patients, group 2 comprised 133, and group 3 comprised 40. Therefore, the frequency of APL-like AML among 683 unselected patients with AML was 5.9%. Group 3 patients had significantly higher leukocyte counts and bone marrow (BM) blast percentages, higher frequencies of normal karyotypes and NPM1 mutation, higher fractions of CD33-positive cells, higher concentrations of fibrin degradation products and D-dimers, lower frequencies of complex karyotypes, monosomal karyotypes and poor cytogenetic risk, lower fractions of CD13-positive cells, and lower fibrinogen concentrations, compared with group 1 patients. The values of the BM blast percentage, number of CD33-positive cells, and DIC score of the patients with APL-like AML were intermediate between those of the patients with typical AML and APL. CONCLUSIONS: This study demonstrates that APL-like AML is not uncommon, and it has characteristics distinguishable from those of typical AML. APL-like AML may have some pathophysiological relationships with APL, which need further investigation.
Bone Marrow ; Cytogenetics ; Dacarbazine ; Down Syndrome ; Fibrin Fibrinogen Degradation Products ; Fibrinogen ; HLA-DR Antigens* ; Humans ; Karyotype ; Leukemia, Myeloid ; Leukemia, Myeloid, Acute* ; Leukemia, Promyelocytic, Acute* ; Leukocyte Count ; Metaphase ; Primary Myelofibrosis

No abstract available.
Bone Marrow*