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1.
Ann Lab Med ; 38(4): 296-305, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29611379

RESUMO

BACKGROUND: This study aimed to determine GATA1 expression levels to better characterize subgroups in BCR/ABL1-negative myeloproliferative neoplasms (MPNs). METHODS: This study enrolled 49 patients diagnosed as having BCR/ABL1-negative MPN on the basis of the 2016 World Health Organization classification : nine polycythemia vera (PV), 17 essential thrombocythemia (ET), 12 prefibrotic primary myelofibrosis (prePMF), and 11 overt primary myelofibrosis (PMF). Relevant clinical and laboratory data were retrieved from the medical records. The molecular analysis of CALR and MPL mutations and quantification of JAK2 V617F allele burden were performed. GATA1 expression was assessed by an immunohistochemical assay on bone marrow biopsy. GATA1 expression was analyzed serially in 18 patients. RESULTS: GATA1 expression decreased significantly in PMF compared with that in other subtypes, while no statistical difference was identified between ET and prePMF. GATA1 expression did not differ according to the mutation profiles or the allele burden of JAK2 V617F, but it decreased significantly in patients with overt fibrosis or leukemic transformation. CONCLUSIONS: Our results suggest that GATA1 expression is significantly low in PMF and decreases with progressive fibrosis and possibly with leukemic transformation, although our attempt to accurately distinguish between subgroups using GATA1 immunohistochemical approach did not achieve statistical significance. A large patient cohort with long term follow-up is required to evaluate the prognostic value of GATA1 expression.


Assuntos
Fator de Transcrição GATA1/metabolismo , Transtornos Mieloproliferativos/diagnóstico , Alelos , Medula Óssea/metabolismo , Medula Óssea/patologia , Análise Citogenética , Proteínas de Fusão bcr-abl/genética , Expressão Gênica , Humanos , Imuno-Histoquímica , Janus Quinase 2/genética , Transtornos Mieloproliferativos/genética , Polimorfismo de Nucleotídeo Único , Mielofibrose Primária/diagnóstico , Mielofibrose Primária/genética , Índice de Gravidade de Doença , Trombocitemia Essencial/diagnóstico , Trombocitemia Essencial/genética
2.
Ann Lab Med ; 38(2): 160-164, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29214761

RESUMO

In multiple myeloma (MM), hyperdiploidy (HD) is known to impart longer overall survival. However, it is unclear whether coexistent HD ameliorates the adverse effects of known high-risk cytogenetics in MM patients. To address this issue, we investigated the clinicopathological characteristics of HD with high-risk cytogenetics in MM. Ninety-seven patients with MM were included in the study. For metaphase cytogenetics (MC), unstimulated cells from bone marrow aspirates were cultured for either 24 or 48 hours. To detect HD by interphase fluorescence in situ hybridization (iFISH), we assessed trisomies of chromosomes 5, 7, 9, 11, 15, and 17. Of the 97 MM patients, 40 showed HD. The frequency of co-occurrence of HD and high-risk cytogenetics was 14% (14/97). When the clinicopathological characteristics were compared between the two groups of HD with high-risk cytogenetics vs. non-HD (NHD) with high-risk cytogenetics, the level of beta 2 microglobulin and stage distribution significantly differed (P=0.020, P=0.032, respectively). This study shows that some of the clinicopathological characteristics of MM patients with high-risk cytogenetics differ according to HD or NHD status.


Assuntos
Células da Medula Óssea/citologia , Mieloma Múltiplo/patologia , Idoso , Idoso de 80 Anos ou mais , Células da Medula Óssea/metabolismo , Aberrações Cromossômicas , Diploide , Feminino , Humanos , Hibridização in Situ Fluorescente , Interfase , Cariotipagem , Masculino , Metáfase , Pessoa de Meia-Idade , Mieloma Múltiplo/genética , Mieloma Múltiplo/mortalidade , Fatores de Risco , Trissomia , Microglobulina beta-2/análise
3.
Cancer Genet ; 208(9): 464-7, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26164398

RESUMO

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy characterized by CD4 and CD56 coexpression without apparent lineage commitment. The molecular pathogenesis of BPDCN has been studied in only a limited number of cases, and specific chromosomal aberrations are lacking thus far. KMT2A (MLL) rearrangements are observed in various types of pediatric and adult leukemia, but only one adult case report has so far showed KMT2A (MLL)-MLLT1 gene rearrangements in BPDCN. We present the first pediatric case of BPDCN with a KMT2A (MLL)-MLLT1 rearrangement confirmed by molecular study. The karyotype demonstrated a t(11;19)(q23;p13.3), trisomy 8, and trisomy 19 in all 20 metaphase cells analyzed: 48,XX,+8,t(11;19)(q23;p13.3),+19[20]. Fluorescence in situ hybridization analysis showed KMT2A (MLL) gene rearrangement in 83% of interphase cells. The KMT2A (MLL)-MLLT1 gene rearrangement was confirmed by multiplex reverse transcriptase polymerase chain reaction. We suggest that the pathogenesis of BPDCN could be associated with KMT2A (MLL) rearrangement (especially with KMT2A (MLL)-MLLT1) and further study on a larger number of cases is needed.


Assuntos
Células Dendríticas/patologia , Neoplasias Hematológicas/genética , Histona-Lisina N-Metiltransferase/genética , Proteína de Leucina Linfoide-Mieloide/genética , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Fatores de Transcrição/genética , Translocação Genética , Criança , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 19/genética , Feminino , Neoplasias Hematológicas/patologia , Humanos
4.
J Korean Surg Soc ; 82(1): 45-9, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22324046

RESUMO

Inflammatory myofibroblastic tumor (IMT) is an uncommon mesenchymal solid tumor commonly documented in children and young adults. Here, we report a case of IMT in colon confirmed pathologically after laparoscopic anterior resection. A 35-year-old man presented with anal bleeding after defecation for 2 weeks. Colonoscopy demonstrated a mass with shallow ulceration in the central area and irregular margin accompanied by intact mucosa in the descending colon. Computer tomography showed a well-demarcated and homogenous solitary mass in the descending colon. We performed laparoscopic anterior resection. This case was diagnosed as IMT after microscopic examination. The tumor was composed of a proliferation of spindle-shaped cells arranged in the hyaline material with chronic inflammatory cells, composed mainly of plasma cells and lymphocytes. Immunohistochemically, tumor cells were positive for smooth muscle actin, and vimentin, and negative for desmin, CD117 (c-kit), anaplastic lymphoma kinase-1.

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