RIASSUNTO Il monossido d’azoto (NO•) è una specie chimica reattiva di natura radicalica. L’NO è u... more RIASSUNTO Il monossido d’azoto (NO•) è una specie chimica reattiva di natura radicalica. L’NO è una molecola prodotta a partire dall’amminoacido L-arginina ed O2, in una reazione catalizzata da una famiglia di enzimi chiamata NO-sintetasi (NOS). Nei sistemi biologici, l’NO agisce come messaggero intra ed inter-cellulare regolando numerosissime funzioni. All’inizio si pensava all’NO come ormone paracrino e recentemente è stato dimostrato che questa molecola è in grado di esplicare la sua azione in siti più distanti da quello di produzione. Pertanto, l’NO, in quanto molecola molto reattiva, per svolgere la sua azione a distanza deve essere trasportato nel sangue da molecole che lo stabilizzano e che possano, quindi, rilasciarlo in siti lontani da quelli in cui è stato prodotto. Per molti anni in terapie cardiovascolari sono state usati farmaci NO-donatori che vengono decomposti nell’organismo per liberare NO, in particolare la nitroglicerina, per la prevenzione e il trattamento di ang...
Background Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by R... more Background Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET proto-oncogene mutation. Two different clinical variants of MEN2 are known (MEN2A and MEN2B): medullary thyroid carcinoma (MTC) almost always present and associated with pheochromocytoma (Pheo), and primary hyperparathyroidism (HPTH) in MEN2A and with Pheo and other nonendocrine diseases in MEN2B. Case Report. A 7-year-old girl, previously treated for a pelvic plexiform neurofibroma, arrived at our observation with a peculiar MEN2B syndrome and with HPTH. The neck ultrasound showed bilateral thyroid nodules, local lymph node lesions, and a suspicious left hyperplastic parathyroid. The CT scan showed a megacolon and described the persistence of the pelvic tumor. A new RET germline deletion in exon 11 (c.1892_1899delCGAGCT; p.Glu632_Leu633del) was found. She underwent total thyroidectomy, central compartment and latero-cervical lymph node dissection, and neck exploration for primary HPT...
Introduction: Medullary thyroid cancer (MTC) arises from C cells secreting calcitonin. In familia... more Introduction: Medullary thyroid cancer (MTC) arises from C cells secreting calcitonin. In familial MTC cases, a germline RET mutation is discovered in 98% of cases. Nowadays, an early diagnosis and radical surgery are the only curative approach. However, thyroidectomy in children is associated with a higher rate of surgical adverse events, compared to surgery in adults. The best clinical approach in patient harboring germline RET mutation (gene carriers, GC) is still undefined. Methods and materials: since 1994 to 2018 we identified 174 GC by RET screening. 56 GC underwent total thyroidectomy and lymph node dissection for the evidence of high calcitonin levels at the first clinical evaluation, whereas 27 GC underwent surgery for high stimulated calcitonin levels during the active surveillance (median 16 months, range 13-118). 90 GC are still in follow up. Results: In the group of 27 GC patients who underwent surgery during the active surveillance, 15 GC had only C cells hyperplasia ...
Vandetanib is an important treatment option for advanced metastatic medullary thyroid cancer. The... more Vandetanib is an important treatment option for advanced metastatic medullary thyroid cancer. The aims of this study were to evaluate the predictors of both a longer response to vandetanib and the outcome. Medical records of 79 medullary thyroid cancer patients treated with vandetanib at our center were analysed. Twenty-five patients were treated for <12 months, 54 were treated for ≥12 months and 24 of these latter were treated for ≥48 months (short-, long- and very long-term). The median progression free survival of the long and very long-term treated patients was significantly longer than in the ZETA trial. When comparing the groups of short - and long-term treated patients the only significant difference was that these latter were less frequently previously treated with a tyrosine kinase inhibitor. However, the long-term treated patients had a younger age, both at diagnosis and enrolment, which was statistically significant in the very long-term treated patients. In the long-t...
RIASSUNTO Il monossido d’azoto (NO•) è una specie chimica reattiva di natura radicalica. L’NO è u... more RIASSUNTO Il monossido d’azoto (NO•) è una specie chimica reattiva di natura radicalica. L’NO è una molecola prodotta a partire dall’amminoacido L-arginina ed O2, in una reazione catalizzata da una famiglia di enzimi chiamata NO-sintetasi (NOS). Nei sistemi biologici, l’NO agisce come messaggero intra ed inter-cellulare regolando numerosissime funzioni. All’inizio si pensava all’NO come ormone paracrino e recentemente è stato dimostrato che questa molecola è in grado di esplicare la sua azione in siti più distanti da quello di produzione. Pertanto, l’NO, in quanto molecola molto reattiva, per svolgere la sua azione a distanza deve essere trasportato nel sangue da molecole che lo stabilizzano e che possano, quindi, rilasciarlo in siti lontani da quelli in cui è stato prodotto. Per molti anni in terapie cardiovascolari sono state usati farmaci NO-donatori che vengono decomposti nell’organismo per liberare NO, in particolare la nitroglicerina, per la prevenzione e il trattamento di ang...
Background Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by R... more Background Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET proto-oncogene mutation. Two different clinical variants of MEN2 are known (MEN2A and MEN2B): medullary thyroid carcinoma (MTC) almost always present and associated with pheochromocytoma (Pheo), and primary hyperparathyroidism (HPTH) in MEN2A and with Pheo and other nonendocrine diseases in MEN2B. Case Report. A 7-year-old girl, previously treated for a pelvic plexiform neurofibroma, arrived at our observation with a peculiar MEN2B syndrome and with HPTH. The neck ultrasound showed bilateral thyroid nodules, local lymph node lesions, and a suspicious left hyperplastic parathyroid. The CT scan showed a megacolon and described the persistence of the pelvic tumor. A new RET germline deletion in exon 11 (c.1892_1899delCGAGCT; p.Glu632_Leu633del) was found. She underwent total thyroidectomy, central compartment and latero-cervical lymph node dissection, and neck exploration for primary HPT...
Introduction: Medullary thyroid cancer (MTC) arises from C cells secreting calcitonin. In familia... more Introduction: Medullary thyroid cancer (MTC) arises from C cells secreting calcitonin. In familial MTC cases, a germline RET mutation is discovered in 98% of cases. Nowadays, an early diagnosis and radical surgery are the only curative approach. However, thyroidectomy in children is associated with a higher rate of surgical adverse events, compared to surgery in adults. The best clinical approach in patient harboring germline RET mutation (gene carriers, GC) is still undefined. Methods and materials: since 1994 to 2018 we identified 174 GC by RET screening. 56 GC underwent total thyroidectomy and lymph node dissection for the evidence of high calcitonin levels at the first clinical evaluation, whereas 27 GC underwent surgery for high stimulated calcitonin levels during the active surveillance (median 16 months, range 13-118). 90 GC are still in follow up. Results: In the group of 27 GC patients who underwent surgery during the active surveillance, 15 GC had only C cells hyperplasia ...
Vandetanib is an important treatment option for advanced metastatic medullary thyroid cancer. The... more Vandetanib is an important treatment option for advanced metastatic medullary thyroid cancer. The aims of this study were to evaluate the predictors of both a longer response to vandetanib and the outcome. Medical records of 79 medullary thyroid cancer patients treated with vandetanib at our center were analysed. Twenty-five patients were treated for <12 months, 54 were treated for ≥12 months and 24 of these latter were treated for ≥48 months (short-, long- and very long-term). The median progression free survival of the long and very long-term treated patients was significantly longer than in the ZETA trial. When comparing the groups of short - and long-term treated patients the only significant difference was that these latter were less frequently previously treated with a tyrosine kinase inhibitor. However, the long-term treated patients had a younger age, both at diagnosis and enrolment, which was statistically significant in the very long-term treated patients. In the long-t...
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