RESUMO
Objective: To investigate the clinicopathological features of central nervous system (CNS) mesenchymal chondrosarcoma (MCS). Methods: Nine cases of CNS MCS were collected at the First Affiliated Hospital of Fujian Medical University from September 2010 to September 2020. The clinical,imaging,histopathological and immunohistochemical features were reviewed. NCOA2 gene rearrangement was evaluated by fluorescence in situ hybridization (FISH). Results: There were three male and six female patients, with age range of 1 to 59 years (median 31 years). Six cases were intracranial and three cases were intraspinal, and the tumors showed dural attachment. They were often diagnosed as meningioma basing on preoperative imaging. Microscopically, the tumors showed a characteristic biphasic histologic pattern composed of undifferentiated mesenchymal small cells and well-differentiated hyaline cartilage islands. The small cells area were positive for SOX9 (9/9), CD99 (8/9), and without BRG1 and INI1 deletion. The cartilaginous component expressed SOX9 (9/9) and S-100 protein (8/9). NCOA2 gene break apart signal was identified in five cases (5/5). Eight patients were followed up for 4-124 months. Three patients (3/8) had recurrences within one year and two patients died of the tumor. Conclusions: CNS MCS is an extremely rare malignant neoplasm with a propensity to dural involvement. Preoperative imaging has low diagnostic accuracy. CNS MCS should be differentiated from other CNS small round cell tumors and chondrosarcoma. FISH detection of NCOA2 gene rearrangement will assist the diagnosis of MCS.
Assuntos
Neoplasias Ósseas , Condrossarcoma Mesenquimal , Condrossarcoma , Adolescente , Adulto , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/genética , Sistema Nervoso Central , Criança , Pré-Escolar , Condrossarcoma/diagnóstico por imagem , Condrossarcoma/genética , Condrossarcoma/cirurgia , Condrossarcoma Mesenquimal/diagnóstico por imagem , Condrossarcoma Mesenquimal/genética , Condrossarcoma Mesenquimal/cirurgia , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
The proteolytic region of cytokeratin-19, referred to as CYFRA21-1, is a soluble molecule present in the serum and other body fluids, and is considered a tumor marker in several neoplastic diseases. To examine whether urinary or serum samples containing CYFRA21-1 can be used as biomarkers for bladder cancer, we conducted a comprehensive meta-analysis of 3 case-control studies. In all studies considered, patients with bladder cancer had a higher CYFRA21-1 level than healthy subjects. Subgroup analysis showed that patients with metastatic bladder cancer had a higher CYFRA21-1 level than those with locally invasive disease. However, no significant difference in CYFRA21-1 was observed between patients with stage I and stage II bladder cancer; there was also no difference in patients with stage II local bladder cancer and those with stage III local bladder cancer. Based on our results, CYFRA21-1 level may be a diagnostic biomarker for diagnosing bladder cancer as well as a possible biomarker for differentiation between local and metastatic bladder cancer. However, it cannot be used as a urinary or serum biomarker for differentiating histological stages of local bladder cancer for histological grades I-III.
Assuntos
Antígenos de Neoplasias/metabolismo , Biomarcadores Tumorais/metabolismo , Queratina-19/metabolismo , Neoplasias da Bexiga Urinária/metabolismo , Antígenos de Neoplasias/sangue , Antígenos de Neoplasias/urina , Biomarcadores Tumorais/sangue , Biomarcadores Tumorais/urina , Estudos de Casos e Controles , Humanos , Queratina-19/sangue , Queratina-19/urina , Neoplasias da Bexiga Urinária/sangue , Neoplasias da Bexiga Urinária/urinaRESUMO
Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other skeletal anomalies. X-ray analysis showed aplasia of the clavicles. The RUNX2 gene was studied by PCR and direct sequencing of the entire coding region and the exon-intron boundaries of the gene. A novel missense mutation (c.1259C-->T[p.T420I]) in RUNX2 gene exon 7 was identified; it was found in the affected individuals in this Chinese family, but was not present in an unaffected family member or in 100 unrelated normal controls. This is the first report that gives evidence that the T420I mutation of RUNX2 is associated with CCD, expanding the spectrum of RUNX2 mutations causing CCD.
Assuntos
Displasia Cleidocraniana/genética , Subunidade alfa 1 de Fator de Ligação ao Core/genética , Mutação de Sentido Incorreto , Adulto , Sequência de Aminoácidos/genética , Povo Asiático/genética , Pré-Escolar , China , Displasia Cleidocraniana/diagnóstico por imagem , Primers do DNA , Feminino , Genótipo , Humanos , Lactente , Masculino , Linhagem , RadiografiaRESUMO
UNLABELLED: To elucidate the correlation between endothelin(ET) and pulmonary hypertension, plasma ET was measured perioperatively by radioimmunoassay in 22 patients with pulmonary hypertension who underwent open heart surgery(PH group) in comparison with 16 patients without pulmonary hypertension(non-PH group) also underwent cardiopulmonary bypass(CPB) surgery. RESULTS: Plasma ET was significantly increased during CPB in both group, Plasma ET decreased rapisly and returned to preoperative level within 6 hours after operation in the non-PH group. In the PH group, however, plasma ET decreased slowly and did not return to preoperative level within 48 hours postoperation.