Iodine deficiency disorders (IDD) are related to the degree of iodine deficiency. In european cou... more Iodine deficiency disorders (IDD) are related to the degree of iodine deficiency. In european countries, characterized by mild to moderate iodine deficiency, neurological deficits or minor neuropsychological impairments have been described. Urinary iodine excretion (UIE) ranged from 30 to 170 mcg/L, 141 millions of people were at risk of IDD, 97 millions were affected by goiter and 0.9 millions had an impaired mental development. Iodine prophylaxis is devoid of adverse reactions with the exception of sporadic cases of transitory hyperthyroidism, associated to the severity of iodine deficiency before the prophylaxis. The International Council for Control of IDD recommends an universal iodine prophylaxis, instituted gradually in severe iodine deficient countries. The total cost of universal iodine prophylaxis is very cheap compared to the social cost of goiter and cretinism. In conclusion, most european countries are still characterized by mild to moderate iodine deficiency. Iodine pr...
Research article The obesity and inflammatory marker haptoglobin attracts monocytes via interacti... more Research article The obesity and inflammatory marker haptoglobin attracts monocytes via interaction with chemokine (C-C motif) receptor 2 (CCR2)
Thyroid : official journal of the American Thyroid Association, 2018
The outcomes of patients with thyroid cancer proven by histology in patients in whom cytology was... more The outcomes of patients with thyroid cancer proven by histology in patients in whom cytology was Thy 3 (indeterminate; Thy 3 patients in this study) based on the Italian consensus classification compared with those in whom cytology was Thy 4 (suspicious for malignancy) or Thy 5 (indicative for malignancy) (Thy 4-5 patients here) remains unclear. To analyze the outcome of 371 Thy 3 patients versus 269 Thy 4-5 patients homogeneously treated with total thyroidectomy and I activity. T1 stage was observed in 46.0% of Thy 3 and in 38.8% of Thy 4-5 patients (p = 0.02), N0 in 95.9% of Thy 3 and in 75.5% of Thy 4-5 patients (p < 0.0001). 35/261 (9.6%) Thy 3 and 85/269 (31.5%) Thy 4-5 patients required >30 mCi of I (p < 0.0001). 359/371 (96.8%) Thy 3 and 232/269 (86.2%) Thy 4-5 patients were free of disease at the end of follow-up (p < 0.001). The time required to obtain 50% of patients in remission was 2 years in Thy 3 and 4 years in Thy 4-5 patients (p < 0.001). The most com...
Papillary thyroid cancer (PTC) is the most common endocrine malignancy. More than 98% of patients... more Papillary thyroid cancer (PTC) is the most common endocrine malignancy. More than 98% of patients achieve an excellent response with no evidence of clinical, biochemical, or structural disease after initial treatment. In these patients structural recurrence is rare, more frequently diagnosed in the first 5 years from initial treatment and almost invariably localized in neck lymph nodes. We report the case of a woman affected by PTC who presented with rapidly rising anti-thyroglobulin antibodies (TgAb) level after 10 years from clinical, morphological and biochemical remission. In 2003, a 56 year old patient was treated with total thyroidectomy and radioiodine remnant ablation (RRA) for a PTC (2 cm) with minimal extrathyroidal extension (T3N1aM0 according to the 6th AJCC TNM staging system) associated with diffuse lymphocytic thyroiditis. In 2004 the patient was free of disease defined as undetectable Tg after recombinant human TSH administration in the absence of TgAb and structural...
Hypothalamic proopiomelanocortin (POMC) neurons are important players in the regulation of energy... more Hypothalamic proopiomelanocortin (POMC) neurons are important players in the regulation of energy homeostasis; we previously demonstrated that environmental stimulation excites arcuate nucleus circuits to undergo plastic remodeling, leading to altered ratio between excitatory and inhibitory synaptic contacts on these neurons. The widely used selective serotonin reuptake inhibitor fluoxetine (FLX) is known to affect body weight. On the other hand, FLX administration mimics the effects of environmental stimulation on synaptic plasticity in the hippocampus and cortex. The mammalian target of rapamycin (mTOR) pathway is instrumental in these phenomena. Thus, we aimed at investigating whether and how FLX affects POMC neurons activity and hypothalamic mTOR function. Adult mice expressing green fluorescent protein (GFP) under the POMC promoter were treated with FLX for 3Â weeks resulting in diminished body weight. Patch clamp recordings performed on POMC neurons indicate that FLX increases ...
Thyroid : official journal of the American Thyroid Association, 2018
The 2017 American Thyroid Association guidelines for the diagnosis and management of thyroid dise... more The 2017 American Thyroid Association guidelines for the diagnosis and management of thyroid disease during pregnancy and the postpartum were published six years after the previous ones. They provide comprehensive clinical recommendations for the whole spectrum of thyroid diseases, as well as for optimal iodine intake during pregnancy, postpartum, and lactation. The present position statement mainly regards the recommended flow chart for therapeutic decision making in pregnant women being diagnosed with subclinical hypothyroidism. Here, we comment on the major biochemical and clinical situations and the corresponding therapeutic recommendations. In particular, we welcome the critical revision of the thyrotropin (TSH) reference range in pregnancy, and we agree that there is no need to treat thyroid peroxidase antibody-negative women with a serum TSH ranging from 2.5 μIU/mL to the upper limit of the reference range. This recommendation will hopefully reduce the huge proportion of heal...
Thyroid : official journal of the American Thyroid Association, Jan 2, 2018
Thyroglobulin antibodies (TgAb) can interfere with Tg measurement and can be used as "Tg sur... more Thyroglobulin antibodies (TgAb) can interfere with Tg measurement and can be used as "Tg surrogate" in patients with differentiated thyroid cancer (DTC) treated with total thyroidectomy (TTx) plus radioiodine remnant ablation (RRA). At variance, few data, and in patients usually followed for a short term follow-up, have been reported about the changes of TgAb levels in patients treated with TTx but not RRA. The aim of this study was to evaluate the changes of TgAb levels in DTC patients treated with TTx but not RRA and to identify the factors that influence these changes. We evaluated the change of TgAb levels in 107 DTC (<1 cm) patients submitted to TTx but not RRA. Patients were followed for a median time of 6.3 years and all had at least 3 determinations of TgAb and neck ultrasound (nUS). TgAb levels showed a progressive decrease during the follow up. Initial TgAb levels and degree of lymphocytic infiltration influenced the time, but not the rate, of TgAb disappearan...
The distinction between follicular thyroid carcinomas (FTCs) and follicular-patterned benign lesi... more The distinction between follicular thyroid carcinomas (FTCs) and follicular-patterned benign lesions is almost impossible on fine-needle aspiration cytology. Furthermore, minimally invasive FTCs (MI-FTCs) with less than 4 vascular invasion foci generally have an excellent prognosis, but there are exceptions and, so far, no molecular marker appears able to identify them reliably. We aimed to distinguish benign lesions from low- and high-risk FTCs by a small-scale combination of genes. The expression analysis of 75 selected genes was performed on 18 follicular adenomas (FAs), 14 MI-FTCs and 6 widely invasive FTC (WI-FTCs). The mutational status of thegenes,promoter andrearrangements was also investigated. Seven samples were mutated, namely 3 MI-FTCs and 4 WI-FTCs. Twenty-five genes were differentially expressed (FDR <0.05) between FAs and WI-FTCs. Six of these (,,,,,) were also differently expressed among MI-FTCs and FAs or WI-FTCs and were considered to build a classification mode...
Absence of neoplastic disease in the organ-recipient is required in order to allow organ transpla... more Absence of neoplastic disease in the organ-recipient is required in order to allow organ transplantation. Due to its rarity, no data regarding management of patients with Multiple endocrine neoplasia type 1 (MEN1) and end-stage renal failure candidates for kidney transplantation are available. A 36 year-old man was referred to the present hospital with MEN1, with a neuroendocrine pancreatic tumor and primary hyperparathyroidism and associated Alport syndrome with end stage renal failure. The present study aimed to establish the eligibility of the patient for a kidney transplantation. The neuroendocrine tumor had been treated with duodenopancreatectomy two years earlier and hyperparathyroidism by parathyroidectomy. The review of the literature did not provide data regarding the eligibility for kidney transplantation of patients harboring a neuroendocrine pancreatic tumor in the context of MEN1. Due to the end-stage renal failure, neuroendocrine markers were unreliable and the investi...
Objectives: There is a general belief that Graves' orbitopathy (GO) is a "chronic" disease, namel... more Objectives: There is a general belief that Graves' orbitopathy (GO) is a "chronic" disease, namely that patients' eyes do not return to how they were before GO appeared. Here, we investigate this issue from both the patient's and the physician's point of view. Study Design: We studied the disappearance of GO, regardless of treatment, in all consecutive patients with a GO history of at least 10 years who came for a follow-up visit over a period of 5 years. Patients underwent an ophthalmological examination and were asked to answer a questionnaire on self-perception related to GO. Results: We studied 99 consecutive patients with a GO duration ≥10 years. Between the first and the last observation, patients received several types of treatment for their thyroid disease and/or for GO. At the end of follow-up, GO was considered disappeared based on objective criteria in 8 patients (∼8%) and based on subjective criteria in 24 patients (∼24%). When we considered both subjective and objective criteria, only 2 patients (∼2%) had all criteria fulfilled and could be considered as GO-free. Conclusions: GO is a chronic disease in the vast majority of patients. Even after a very long time since its onset, complete disappearance is rare, although a minority of patients believe they do not have GO anymore and an even lower proportion do not have relevant GO signs. Our findings have obvious implications in patient management and counseling.
Noninvasive encapsulated follicular variants of papillary thyroid carcinomas have been recently r... more Noninvasive encapsulated follicular variants of papillary thyroid carcinomas have been recently reclassified as noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTPs). NIFTPs exhibit a behavior that is very close to that of follicular adenomas but different from the infiltrative and invasive follicular variants of papillary thyroid carcinomas (FVPTCs). The importance of miRNAs to carcinogenesis has been reported in recent years. miRNAs seem to be promising diagnostic and prognostic molecular markers for thyroid cancer, and the combination of miRNA expression and mutational status might improve cytological diagnosis. The aim of the present study was to evaluate the miRNA expression profile in wild-type, RAS- or BRAF-mutated NIFTPs, infiltrative and invasive FVPTCs, and follicular adenomas using the nCounter miRNA Expression assay (NanoString Technologies). To identify the significant Kyoto Encyclopedia of Genes and Genomes (KEGG) molecular pathways ass...
Thyroid : official journal of the American Thyroid Association, Oct 5, 2017
Backgound. The follicular variant (FV) is one of the most common variants of papillary thyroid ca... more Backgound. The follicular variant (FV) is one of the most common variants of papillary thyroid carcinoma (PTC). Clinically, the FVPTC is considered a low-risk variant of PTC, and the encapsulated forms of FVPTC represent a group of thyroid tumours with an overall good prognosis. Consequently, these neoplasms were very recently reclassified as "non-invasive follicular tumour with papillary-like nuclear features (NIFTP)". From a molecular standpoint, NIFTP appears similar to the follicular pattern thyroid neoplasm; however, limited data are currently available regarding their gene expression profile. The aim of this study was to identify specific molecular signatures of 24 NIFTPs compared to those of 19 follicular adenomas and 18 infiltrative FVPTCs (IFVPTCs). A nanoString custom assay was used to perform the mRNA expression analysis. All cases were also genotyped for BRAF, N-, H- and K-RAS mutations. Samples were grouped on the basis of the gene expression profile by Pearso...
Italy is dealing with iodine deficiency since ancient times. Indeed, iodine deficiency disorders,... more Italy is dealing with iodine deficiency since ancient times. Indeed, iodine deficiency disorders, specifically goiter and cretinism, have been reported in some regions of Northern Italy already in the first century AD. However, a clear relationship between endemic goiter and endemic cretinism was recognized only in 1848 by an "ad hoc" committee appointed by the king of Sardinia, which identified extensive areas afflicted by these disorders in Piedmont, Liguria and Sardinia. With the identification in the early 20th century of iodine deficiency as the cause of endemic goiter1 many epidemiological studies were conducted in Italy. These showed that iodine deficiency was present not only in mountain areas but also in coastal areas. Thereafter, local and transient iodine prophylaxis programs were implemented in some areas of the country between the 1970s and the 1990s. In 1972 the iodization of salt at 15 mg/kg was allowed by law and iodized salt was distributed on request to s...
BRAF mutations represent the most common genetic alteration in papillary thyroid carcinoma (PTC).... more BRAF mutations represent the most common genetic alteration in papillary thyroid carcinoma (PTC). The p.V600E mutation is specific for the classic and tall-cell variants of PTC and has been associated with a more aggressive biologic behavior. On the other hand, the p.K601E mutation is peculiar to the follicular variant of PTC, and seems to be a favorable prognostic indicator. A 12-year-old boy presented with a 10-mm left-sided thyroid nodule. Fine-needle aspiration cytology reported the lesion as suspicious for a follicular neoplasm (Bethesda category IV). The patient underwent lobectomy, and histopathology revealed a follicular adenoma with normal surrounding tissue. The cytological smear was found to be positive for BRAF p.K601E mutation, and this was later confirmed on the corresponding paraffin block. This case was independently revised by 4 expert pathologists, all of whom confirmed the benign nature of the thyroid lesion. This article describes the presence of a BRAF mutation ...
Iodine deficiency disorders (IDD) are related to the degree of iodine deficiency. In european cou... more Iodine deficiency disorders (IDD) are related to the degree of iodine deficiency. In european countries, characterized by mild to moderate iodine deficiency, neurological deficits or minor neuropsychological impairments have been described. Urinary iodine excretion (UIE) ranged from 30 to 170 mcg/L, 141 millions of people were at risk of IDD, 97 millions were affected by goiter and 0.9 millions had an impaired mental development. Iodine prophylaxis is devoid of adverse reactions with the exception of sporadic cases of transitory hyperthyroidism, associated to the severity of iodine deficiency before the prophylaxis. The International Council for Control of IDD recommends an universal iodine prophylaxis, instituted gradually in severe iodine deficient countries. The total cost of universal iodine prophylaxis is very cheap compared to the social cost of goiter and cretinism. In conclusion, most european countries are still characterized by mild to moderate iodine deficiency. Iodine pr...
Research article The obesity and inflammatory marker haptoglobin attracts monocytes via interacti... more Research article The obesity and inflammatory marker haptoglobin attracts monocytes via interaction with chemokine (C-C motif) receptor 2 (CCR2)
Thyroid : official journal of the American Thyroid Association, 2018
The outcomes of patients with thyroid cancer proven by histology in patients in whom cytology was... more The outcomes of patients with thyroid cancer proven by histology in patients in whom cytology was Thy 3 (indeterminate; Thy 3 patients in this study) based on the Italian consensus classification compared with those in whom cytology was Thy 4 (suspicious for malignancy) or Thy 5 (indicative for malignancy) (Thy 4-5 patients here) remains unclear. To analyze the outcome of 371 Thy 3 patients versus 269 Thy 4-5 patients homogeneously treated with total thyroidectomy and I activity. T1 stage was observed in 46.0% of Thy 3 and in 38.8% of Thy 4-5 patients (p = 0.02), N0 in 95.9% of Thy 3 and in 75.5% of Thy 4-5 patients (p < 0.0001). 35/261 (9.6%) Thy 3 and 85/269 (31.5%) Thy 4-5 patients required >30 mCi of I (p < 0.0001). 359/371 (96.8%) Thy 3 and 232/269 (86.2%) Thy 4-5 patients were free of disease at the end of follow-up (p < 0.001). The time required to obtain 50% of patients in remission was 2 years in Thy 3 and 4 years in Thy 4-5 patients (p < 0.001). The most com...
Papillary thyroid cancer (PTC) is the most common endocrine malignancy. More than 98% of patients... more Papillary thyroid cancer (PTC) is the most common endocrine malignancy. More than 98% of patients achieve an excellent response with no evidence of clinical, biochemical, or structural disease after initial treatment. In these patients structural recurrence is rare, more frequently diagnosed in the first 5 years from initial treatment and almost invariably localized in neck lymph nodes. We report the case of a woman affected by PTC who presented with rapidly rising anti-thyroglobulin antibodies (TgAb) level after 10 years from clinical, morphological and biochemical remission. In 2003, a 56 year old patient was treated with total thyroidectomy and radioiodine remnant ablation (RRA) for a PTC (2 cm) with minimal extrathyroidal extension (T3N1aM0 according to the 6th AJCC TNM staging system) associated with diffuse lymphocytic thyroiditis. In 2004 the patient was free of disease defined as undetectable Tg after recombinant human TSH administration in the absence of TgAb and structural...
Hypothalamic proopiomelanocortin (POMC) neurons are important players in the regulation of energy... more Hypothalamic proopiomelanocortin (POMC) neurons are important players in the regulation of energy homeostasis; we previously demonstrated that environmental stimulation excites arcuate nucleus circuits to undergo plastic remodeling, leading to altered ratio between excitatory and inhibitory synaptic contacts on these neurons. The widely used selective serotonin reuptake inhibitor fluoxetine (FLX) is known to affect body weight. On the other hand, FLX administration mimics the effects of environmental stimulation on synaptic plasticity in the hippocampus and cortex. The mammalian target of rapamycin (mTOR) pathway is instrumental in these phenomena. Thus, we aimed at investigating whether and how FLX affects POMC neurons activity and hypothalamic mTOR function. Adult mice expressing green fluorescent protein (GFP) under the POMC promoter were treated with FLX for 3Â weeks resulting in diminished body weight. Patch clamp recordings performed on POMC neurons indicate that FLX increases ...
Thyroid : official journal of the American Thyroid Association, 2018
The 2017 American Thyroid Association guidelines for the diagnosis and management of thyroid dise... more The 2017 American Thyroid Association guidelines for the diagnosis and management of thyroid disease during pregnancy and the postpartum were published six years after the previous ones. They provide comprehensive clinical recommendations for the whole spectrum of thyroid diseases, as well as for optimal iodine intake during pregnancy, postpartum, and lactation. The present position statement mainly regards the recommended flow chart for therapeutic decision making in pregnant women being diagnosed with subclinical hypothyroidism. Here, we comment on the major biochemical and clinical situations and the corresponding therapeutic recommendations. In particular, we welcome the critical revision of the thyrotropin (TSH) reference range in pregnancy, and we agree that there is no need to treat thyroid peroxidase antibody-negative women with a serum TSH ranging from 2.5 μIU/mL to the upper limit of the reference range. This recommendation will hopefully reduce the huge proportion of heal...
Thyroid : official journal of the American Thyroid Association, Jan 2, 2018
Thyroglobulin antibodies (TgAb) can interfere with Tg measurement and can be used as "Tg sur... more Thyroglobulin antibodies (TgAb) can interfere with Tg measurement and can be used as "Tg surrogate" in patients with differentiated thyroid cancer (DTC) treated with total thyroidectomy (TTx) plus radioiodine remnant ablation (RRA). At variance, few data, and in patients usually followed for a short term follow-up, have been reported about the changes of TgAb levels in patients treated with TTx but not RRA. The aim of this study was to evaluate the changes of TgAb levels in DTC patients treated with TTx but not RRA and to identify the factors that influence these changes. We evaluated the change of TgAb levels in 107 DTC (<1 cm) patients submitted to TTx but not RRA. Patients were followed for a median time of 6.3 years and all had at least 3 determinations of TgAb and neck ultrasound (nUS). TgAb levels showed a progressive decrease during the follow up. Initial TgAb levels and degree of lymphocytic infiltration influenced the time, but not the rate, of TgAb disappearan...
The distinction between follicular thyroid carcinomas (FTCs) and follicular-patterned benign lesi... more The distinction between follicular thyroid carcinomas (FTCs) and follicular-patterned benign lesions is almost impossible on fine-needle aspiration cytology. Furthermore, minimally invasive FTCs (MI-FTCs) with less than 4 vascular invasion foci generally have an excellent prognosis, but there are exceptions and, so far, no molecular marker appears able to identify them reliably. We aimed to distinguish benign lesions from low- and high-risk FTCs by a small-scale combination of genes. The expression analysis of 75 selected genes was performed on 18 follicular adenomas (FAs), 14 MI-FTCs and 6 widely invasive FTC (WI-FTCs). The mutational status of thegenes,promoter andrearrangements was also investigated. Seven samples were mutated, namely 3 MI-FTCs and 4 WI-FTCs. Twenty-five genes were differentially expressed (FDR <0.05) between FAs and WI-FTCs. Six of these (,,,,,) were also differently expressed among MI-FTCs and FAs or WI-FTCs and were considered to build a classification mode...
Absence of neoplastic disease in the organ-recipient is required in order to allow organ transpla... more Absence of neoplastic disease in the organ-recipient is required in order to allow organ transplantation. Due to its rarity, no data regarding management of patients with Multiple endocrine neoplasia type 1 (MEN1) and end-stage renal failure candidates for kidney transplantation are available. A 36 year-old man was referred to the present hospital with MEN1, with a neuroendocrine pancreatic tumor and primary hyperparathyroidism and associated Alport syndrome with end stage renal failure. The present study aimed to establish the eligibility of the patient for a kidney transplantation. The neuroendocrine tumor had been treated with duodenopancreatectomy two years earlier and hyperparathyroidism by parathyroidectomy. The review of the literature did not provide data regarding the eligibility for kidney transplantation of patients harboring a neuroendocrine pancreatic tumor in the context of MEN1. Due to the end-stage renal failure, neuroendocrine markers were unreliable and the investi...
Objectives: There is a general belief that Graves' orbitopathy (GO) is a "chronic" disease, namel... more Objectives: There is a general belief that Graves' orbitopathy (GO) is a "chronic" disease, namely that patients' eyes do not return to how they were before GO appeared. Here, we investigate this issue from both the patient's and the physician's point of view. Study Design: We studied the disappearance of GO, regardless of treatment, in all consecutive patients with a GO history of at least 10 years who came for a follow-up visit over a period of 5 years. Patients underwent an ophthalmological examination and were asked to answer a questionnaire on self-perception related to GO. Results: We studied 99 consecutive patients with a GO duration ≥10 years. Between the first and the last observation, patients received several types of treatment for their thyroid disease and/or for GO. At the end of follow-up, GO was considered disappeared based on objective criteria in 8 patients (∼8%) and based on subjective criteria in 24 patients (∼24%). When we considered both subjective and objective criteria, only 2 patients (∼2%) had all criteria fulfilled and could be considered as GO-free. Conclusions: GO is a chronic disease in the vast majority of patients. Even after a very long time since its onset, complete disappearance is rare, although a minority of patients believe they do not have GO anymore and an even lower proportion do not have relevant GO signs. Our findings have obvious implications in patient management and counseling.
Noninvasive encapsulated follicular variants of papillary thyroid carcinomas have been recently r... more Noninvasive encapsulated follicular variants of papillary thyroid carcinomas have been recently reclassified as noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTPs). NIFTPs exhibit a behavior that is very close to that of follicular adenomas but different from the infiltrative and invasive follicular variants of papillary thyroid carcinomas (FVPTCs). The importance of miRNAs to carcinogenesis has been reported in recent years. miRNAs seem to be promising diagnostic and prognostic molecular markers for thyroid cancer, and the combination of miRNA expression and mutational status might improve cytological diagnosis. The aim of the present study was to evaluate the miRNA expression profile in wild-type, RAS- or BRAF-mutated NIFTPs, infiltrative and invasive FVPTCs, and follicular adenomas using the nCounter miRNA Expression assay (NanoString Technologies). To identify the significant Kyoto Encyclopedia of Genes and Genomes (KEGG) molecular pathways ass...
Thyroid : official journal of the American Thyroid Association, Oct 5, 2017
Backgound. The follicular variant (FV) is one of the most common variants of papillary thyroid ca... more Backgound. The follicular variant (FV) is one of the most common variants of papillary thyroid carcinoma (PTC). Clinically, the FVPTC is considered a low-risk variant of PTC, and the encapsulated forms of FVPTC represent a group of thyroid tumours with an overall good prognosis. Consequently, these neoplasms were very recently reclassified as "non-invasive follicular tumour with papillary-like nuclear features (NIFTP)". From a molecular standpoint, NIFTP appears similar to the follicular pattern thyroid neoplasm; however, limited data are currently available regarding their gene expression profile. The aim of this study was to identify specific molecular signatures of 24 NIFTPs compared to those of 19 follicular adenomas and 18 infiltrative FVPTCs (IFVPTCs). A nanoString custom assay was used to perform the mRNA expression analysis. All cases were also genotyped for BRAF, N-, H- and K-RAS mutations. Samples were grouped on the basis of the gene expression profile by Pearso...
Italy is dealing with iodine deficiency since ancient times. Indeed, iodine deficiency disorders,... more Italy is dealing with iodine deficiency since ancient times. Indeed, iodine deficiency disorders, specifically goiter and cretinism, have been reported in some regions of Northern Italy already in the first century AD. However, a clear relationship between endemic goiter and endemic cretinism was recognized only in 1848 by an "ad hoc" committee appointed by the king of Sardinia, which identified extensive areas afflicted by these disorders in Piedmont, Liguria and Sardinia. With the identification in the early 20th century of iodine deficiency as the cause of endemic goiter1 many epidemiological studies were conducted in Italy. These showed that iodine deficiency was present not only in mountain areas but also in coastal areas. Thereafter, local and transient iodine prophylaxis programs were implemented in some areas of the country between the 1970s and the 1990s. In 1972 the iodization of salt at 15 mg/kg was allowed by law and iodized salt was distributed on request to s...
BRAF mutations represent the most common genetic alteration in papillary thyroid carcinoma (PTC).... more BRAF mutations represent the most common genetic alteration in papillary thyroid carcinoma (PTC). The p.V600E mutation is specific for the classic and tall-cell variants of PTC and has been associated with a more aggressive biologic behavior. On the other hand, the p.K601E mutation is peculiar to the follicular variant of PTC, and seems to be a favorable prognostic indicator. A 12-year-old boy presented with a 10-mm left-sided thyroid nodule. Fine-needle aspiration cytology reported the lesion as suspicious for a follicular neoplasm (Bethesda category IV). The patient underwent lobectomy, and histopathology revealed a follicular adenoma with normal surrounding tissue. The cytological smear was found to be positive for BRAF p.K601E mutation, and this was later confirmed on the corresponding paraffin block. This case was independently revised by 4 expert pathologists, all of whom confirmed the benign nature of the thyroid lesion. This article describes the presence of a BRAF mutation ...
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