1,720,988 research outputs found
Management of invasive and advanced thyroid cancer
The majority of thyroid cancers are slow growing and have an excellent prognosis after surgical and medical therapy. However, a subset of thyroid cancers do not follow an indolent course, and exhibit aggressive behaviour. Advanced thyroid malignancies can cause distressing and life-threatening symptoms by local invasion, growth of distant metastases. Extensive surgery may have curative or palliative effects, although morbidity should be considered before planning debulking operations. Novel therapies using molecular targets and redifferentiation agents promise to expand our ability to treat patients with advanced thyroid malignancies in the future
The diagnostic role of HRPT2 mutations and parafibromin immunostaining in sporadic parathyroid carcinoma
Background and aim: Parathyroid carcinoma (PC) is a rare
disease; its definitive diagnosis may be challenging, especially
in case of absence of unequivocal diagnostic criteria (histopath-
Langenbecks Arch Surg (2009) 394:407–416 409
ological vascular and extracapsular invasion of the adjacent
tissues; distant metastases), with subsequent under-recognition
and possibly under-treatment. In these cases a prolonged and
strict follow up is required to assess the diagnosis. Recently,
somatic inactivating mutations of HRPT2 (a gene encoding the
Parafibromin, a nuclear protein with antiproliferative effects)
have been described in most cases of sporadic PC. This study
was aimed to assess the role of HRPT2 mutations and the
usefulness of Parafibromin immunostaining in the diagnosis of
sporadic PC.
Methods: Somatic and germ-line mutations of HRPT2 gene and
immunohistochemical evaluation of nuclear Parafibromin was
assessed in three unequivocal PC, in 20 sporadic adenomas and
ten normal parathyroids (control group).
Results: Germ-line HRPT2 mutations were absent in all patients.
Somatic HRPT2 mutations were absent in 100% of cases in the
control group and in two PC patients, while a novel inactivating
mutation of HRPT2 was found only in one PC. Nuclear
Parafibromin staining was strongly evident in all cases in the
control group; it was weakly and variably present in one PC and
absent in the remaining two cases (sensitivity 66.7%, specificity
100% and accuracy 97%).
Conclusions: Loss of nuclear Parafibromin staining may be a
useful tool for the diagnosis of PC in most cases. However, since
HRPT2 mutations may not be involved in a subset of PC, its
negative predictive value may be limited
Blood coagulation changes in patients with post-splenectomy persistent thrombocytosis
To clarify the possible role of persistent thrombocytosis after splenectomy as being a predisposing factor causing thromboembolism. Blood coagulation profiles were studied in 35 patients (20 M and 15 F, mean age 42 +/- 17.5) suffering from thrombocytosis (> 500,000/dl) who underwent splenectomy for non-malignant and non-traumatic diseases. Seventy healthy subjects acted as a control group. Tests were performed 6 months after the operation and for both groups (patients and controls) blood samples were collected for: platelets, fibrinogen, PT, APTT, AT III, plasminogen, F1 + 2, t-PA and DNA analysis for F V, F II and MTHFR. After one year all subjects were controlled for thrombocytosis, genomic abnormalities and venous thrombosis. All the analyses were performed according to the Statistical Package for Social Science. The significance of the differences in means was evaluated by non-parametric tests, differences with a P value 500,000/dl) who underwent splenectomy for non-malignant and non-traumatic diseases. Seventy healthy subjects acted as a control group. Tests were performed 6 months after the operation and for both groups (patients and controls) blood samples were collected for: platelets, fibrinogen, PT, APTT, AT III, plasminogen, F1 + 2, t-PA and DNA analysis for F V, F II and MTHFR. After one year all subjects were controlled for thrombocytosis, genomic abnormalities and venous thrombosis. All the analyses were performed according to the Statistical Package for Social Science. The significance of the differences in means was evaluated by non-parametric tests, differences with a P value < 0.05 being considered significant. Increased plasma levels of fibrinogen, D-dimer, F1 + 2 and PAI-1 were found in the patients compared with the control group. TPA was significantly lower in the patients than in the controls. At the one year follow-up, two patients with genetic polymorphism had suffered deep venous thrombosis. Our findings indicate that splenectomy contributes to abnormal platelet aggregation and endothelial cell activation with hypercoagulability
Parafibromin expression, single-gland involvement and limited parathyroidectomy in familial isolated hyper-parathyroidism
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