Pheochromocytomas and Paragangliomas: Genotype-Phenotype Correlations

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors, with genetic background in about 40% of cases, involving more than 30 susceptibility genes. The susceptibility genes can be divided into three main molecular clusters: pseudohypoxic, kinase signaling, and Wnt signaling. Biochemical characterization of these particular tumors should be integrated into the diagnostic algorithm because it can help apply personalized medicine principles and targeted therapy. These tumors can present with very different genotype-phenotype correlations, and their characterization can help the clinical practitioner make optimal clinical management decisions and prioritize genetic testing. This chapter summarizes the most important aspects of genetics and clinical characteristics, together with new genotype-phenotype correlation data

Mammary cancer: Sneak peek to thyroid nodules

Breast cancer has a worldwide increasing incidence and once the diagnosis is done a screening is performed using method like ultrasound, computed tomography etc in order to assess disease spreading, according to the mammary malignancy’s stage. During this type of evaluation, a thyroid condition might be detected. Generally, 50-70% of adult population has a thyroid nodule of different dimensions, usually with a very low clinical relevance and a very good prognosis. If the pathogenic correlation between a thyroid nodule and the breast tumour is indeed sustained this is still a matter of debate. Our purpose is to introduce a series of subjects associating non-syndromic mammary cancer and thyroid nodules of various types. The use of thyroid ultrasound in patients with mammary cancer is mandatory. Most of thyroid nodules are incidental but some thyroid pathologies may actually be linked to breast malignancy

ADULT WOMEN WITH PAPILLARY THYROID CANCER

Differentiated thyroid cancer of papillary type have an increasing incidence on women of reproductive age but also in menopause, possible related to new triggers that act as endocrine disruptors which are more or less described until this moment or possible related to the increased accessibility to thyroid ultrasound. The incidence of non-medullary thyroid cancer in women is 3 times higher than in males so the influence of estrogens seems rational. Yet, some meta-analyses did not confirm a direct link with estrogens exposure during reproductive years. Thyroid cancer is also diagnosed in menopause which is a low estrogens status thus other risk factors should be taken into consideration; among these obesity and smoking are frequently incriminated. We aim to introduce a two cases series of adult females with differentiated thyroid carcinoma which was diagnosed from an initial routine ultrasound

ADRENAL ULTRASOUND

Ultrasound is the first step to detect an abdominal tumour at the level of adrenal. The most common scenario is related to the pelvic and abdominal ultrasound. This kind of tumour is more frequently seen in menopausal women than in premenopausal ones. We introduce a case of a menopausal woman accidentally detected at ultrasound with an adrenal mass starting from a routine gynaecological control. The use of ultrasound on adrenal masses is related to their detection and follow-up in cases when surgery is not necessar

Quantitative vs. Qualitative SPECT-CT Diagnostic Accuracy in Bone Lesion Evaluation—A Review of the Literature

(1) Background: Considering the importance that quantitative molecular imaging has gained and the need for objective and reproducible image interpretation, the aim of the present review is to emphasize the benefits of performing a quantitative interpretation of single photon emission computed tomography-computed tomography (SPECT-CT) studies compared to qualitative interpretation methods in bone lesion evaluations while suggesting new directions for research on this topic. (2) Methods: By conducting comprehensive literature research, we performed an analysis of published data regarding the use of quantitative and qualitative SPECT-CT in the evaluation of bone metastases. (3) Results: Several studies have evaluated the diagnostic accuracy of quantitative and qualitative SPECT-CT in differentiating between benign and metastatic bone lesions. We collected the sensitivity and specificity for both quantitative and qualitative SPECT-CT; their values ranged between 74–92% and 81–93% for quantitative bone SPECT-CT and between 60–100% and 41–100% for qualitative bone SPECT-CT. (4) Conclusions: Both qualitative and quantitative SPECT-CT present an increased potential for better differentiating between benign and metastatic bone lesions, with the latter offering additional objective information, thus increasing diagnostic accuracy and enabling the possibility of performing treatment response evaluation through accurate measurements