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

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

A blastoma is a type of cancer, which is common in children; it is caused by malignancies derived from in the precursor cells, often called blasts. Examples are nephroblastomas, retinoblastomas, pleuropulmonary blastomas, and pancreatoblastomas. Pancreatoblastomas are extremely rarely in adults. It is difficult preoperatively to distinguish this tumor from other pancreatic tumors including solid and papillary epithelial neoplasm of the pancreas (SPEN), acinar cell carcinoma, islet cell tumor, and ductal adenocarcinoma with cystic degeneration. To our knowledge, this case may be the second report of a pancreatoblastoma occurring in an adult in Korea. We report a case of a pancreatoblastoma that was confirmed by pathology, despite the radiologic finding that assumed it was a SPEN.
Adenocarcinoma ; Adenoma, Islet Cell ; Adult* ; Carcinoma, Acinar Cell ; Child ; Humans ; Korea ; Neoplasms, Glandular and Epithelial ; Pancreas ; Pathology ; Retinoblastoma ; Wilms Tumor

We report here a case of a 59-yr-old man with CD4+ T-cell large granular lymphocytic leukemia (T-LGL). Peripheral blood examination indicated leukocytosis (45x10(9) cells/L) that consisted of 34% neoplastic lymphoid cells. Other laboratory results indicated no specific abnormalities except for serum antinuclear antibody titer (1:640), glucose (1.39 g/L), and hemoglobin A1c (7.7%) levels. Computed tomography indicated multiple small enlarged lymph nodes (<1 cm in diameter) in both the axillary and inguinal areas, a cutaneous nodule (1.5 cm in diameter) in the left suboccipital area, and mild hepatosplenomegaly. Bone marrow examination revealed hypercellular marrow that consisted of 2.4% neoplastic lymphoid cells. The neoplastic lymphoid cells exhibited a medium size, irregularly shaped nuclei, a moderate amount of cytoplasm, and large granules in the cytoplasm. Immunohistochemical analysis indicated CD3+, CD4+, T-cell receptor betaF1+, granzyme B+, and TIA1+. Flow cytometric analysis of the neoplastic lymphoid cells revealed CD3+, cytoplasmic CD3+, CD4+, and CD7+. Cytogenetic analysis indicated an abnormal karyotype of 46,XY,inv(3)(p21q27),t(12;17)(q24.1;q21),del(13)(q14q22)[2]/46,XY[28]. The patient was diagnosed with CD4+ T-LGL and received chemotherapy (10.0 mg methotrexate). This is the second case of CD4+ T-LGL that has been reported in Korea.
Antibodies, Antinuclear/analysis ; Blood Glucose/analysis ; Bone Marrow Cells/metabolism/pathology ; Hemoglobin A, Glycosylated/metabolism ; Humans ; Immunohistochemistry ; Immunophenotyping ; Karyotyping ; Leukemia, Large Granular Lymphocytic/*diagnosis/pathology/radiography ; Lymph Nodes/pathology ; Male ; Middle Aged ; Neoplastic Cells, Circulating/metabolism/pathology ; Tomography, X-Ray Computed

We report here a case of a 59-yr-old man with CD4+ T-cell large granular lymphocytic leukemia (T-LGL). Peripheral blood examination indicated leukocytosis (45x10(9) cells/L) that consisted of 34% neoplastic lymphoid cells. Other laboratory results indicated no specific abnormalities except for serum antinuclear antibody titer (1:640), glucose (1.39 g/L), and hemoglobin A1c (7.7%) levels. Computed tomography indicated multiple small enlarged lymph nodes (<1 cm in diameter) in both the axillary and inguinal areas, a cutaneous nodule (1.5 cm in diameter) in the left suboccipital area, and mild hepatosplenomegaly. Bone marrow examination revealed hypercellular marrow that consisted of 2.4% neoplastic lymphoid cells. The neoplastic lymphoid cells exhibited a medium size, irregularly shaped nuclei, a moderate amount of cytoplasm, and large granules in the cytoplasm. Immunohistochemical analysis indicated CD3+, CD4+, T-cell receptor betaF1+, granzyme B+, and TIA1+. Flow cytometric analysis of the neoplastic lymphoid cells revealed CD3+, cytoplasmic CD3+, CD4+, and CD7+. Cytogenetic analysis indicated an abnormal karyotype of 46,XY,inv(3)(p21q27),t(12;17)(q24.1;q21),del(13)(q14q22)[2]/46,XY[28]. The patient was diagnosed with CD4+ T-LGL and received chemotherapy (10.0 mg methotrexate). This is the second case of CD4+ T-LGL that has been reported in Korea.
Antibodies, Antinuclear/analysis ; Blood Glucose/analysis ; Bone Marrow Cells/metabolism/pathology ; Hemoglobin A, Glycosylated/metabolism ; Humans ; Immunohistochemistry ; Immunophenotyping ; Karyotyping ; Leukemia, Large Granular Lymphocytic/*diagnosis/pathology/radiography ; Lymph Nodes/pathology ; Male ; Middle Aged ; Neoplastic Cells, Circulating/metabolism/pathology ; Tomography, X-Ray Computed