A parathyroid carcinoma within a cold thyroid nodule

We report the case of a 71-year-old woman who was referred to our institute with a solid nodule in the right thyroid lobe and hypercalcemia. Ultrasound revealed a well-vascularized right thyroid nodule that was identified as a cold area by 99mTc-sodium pertechnetate scan. Fine-needle aspiration showed a follicular lesion and blood tests revealed hypercalcemia and hyperparathyroidism. A 99mTc-methoxyisobutylisonitrile (99mTc-Sestamibi) scan was subsequently performed revealing a focal area of increased uptake in the right thyroid lobe, within the cold area detected by the thyroid scan. A right emithyroidectomy and right superior and inferior parathyroidectomy was performed and histopathological examination showed a parathyroid carcinoma (immunohistochemistry positive for PTH and chromogranin A, Ki-67 10%) associated with follicular hyperplasia

Genetics in the diagnosis and management of thyroid cancer

Background Thyroid cancer is the commonest endocrine malignancy, constituting around 1% of all cancers. Medullary thyroid carcinoma (MTC) is usually sporadic, but may occur in patients with germline mutations in the rearranged during transfection (RET) gene. The sporadic form lacks germline mutations but may harbour somatic RET mutations. The risk factors for differentiated thyroid carcinoma (DTC) are not well understood, and genetic predisposition accounts for a smaller proportion of DTC than MTC. Methods Presenting features of patients undergoing germline RET testing were analysed in order to explore the prevalence of germline RET mutations in patients with different clinical presentations in the UK population, and a systematic review of the literature was undertaken to investigate the clinical usefulness of somatic mutations in patients with sporadic MTC. Mendelian randomisation was utilised to investigate the causal roles of several proposed modifiable risk factors for thyroid cancer. Results By analysing results of 1,058 patients’ germline RET analysis, I found that 8.5% of patients with presumed sporadic MTC in fact have hereditary disease. The 3 systematic review on molecular genetics in sporadic MTC highlights the emerging role of somatic mutations and epigenetic markers in prognostication in sporadic MTC. Regarding risk factors for DTC, my Mendelian randomisation studies identified a causal association between lower thyroid stimulating hormone (TSH) levels and DTC, and a possible causal relationship between type 2 diabetes mellitus (T2DM) and DTC. I was however unable to provide any evidence using genetic epidemiological techniques for a causal role for obesity, smoking, alcohol consumption or physical exercise. Conclusions This thesis helps to illustrate patterns of clinical presentations of patients with germline RET mutations in the United Kingdom, and reports the novel use of mendelian randomisation to investigate the role of a range of lifestyle risk factors on the risk of thyroid cancer, raising some questions about the validity of previously reported observational findings, and paving the way for further research with the vital aim of understanding the modifiable risk factors for thyroid cancer

Novel Methods of Diagnostics of Thyroid and Parathyroid Lesions

Thyroid nodular disease is one of the most frequent endocrine diseases. The prevalence of thyroid focal lesions detected by imaging techniques, according to studies on different populations, ranges from 10 to 70%. In a population of women over 50 years of age, approximately half of them will have a thyroid focal lesion. However, only 18% of thyroid nodules are diagnosed as malignant. Thyroid nodular disease is the most frequently diagnosed endocrine pathology, while thyroid cancer constitues the most common endocrine malignancy and is reponsible for about 67% of deaths due to neoplasms derived from endocrine organs. The incidence of thyroid cancer has risen by about 240% in the last three decades. Due to the increased availability of imaging techniques, recently, a rise in the detectability of thyroid cancer at the stage of microcarcinoma has been observed. Diagnostic and therapeutic decisions in patients with thyroid nodules require an interdisciplinary consensus between endocrinologists and physicians of other specialities (radiologists, pathologists, surgeons, oncologists). This book focuses on current trends in novel techniques of thyroid nodule diagnostics before they are implemented in the current guidelines on the management of thyroid nodular disease

Pierwotna nadczynność przytarczyc w przebiegu raka przytarczyc — wyzwanie diagnostyczne i terapeutyczne

Parathyroid carcinoma (PC) is a rare endocrine malignancy and the cause of primary hyperparathyroidism. It is usually associated with a high rate of local and distant recurrence. Laboratory findings and clinical symptoms may be similar to those in parathyroid adenoma. The histological features of PC may also be non-specific and the affected gland is often indistinguishable from a benign lesion. The proper diagnosis is commonly made months to years later when the disease recurs or metastases are present. Therefore, parathyroid carcinoma still remains a diagnostic and management challenge for many physicians. However, there are some features that, in combination, may help in diagnosis. Surgery still remains the only curative treatment, even in metastatic disease. In advanced, non-operable subjects, managing hypercalcaemia and controlling a tumour are the main goals. Morbidity is caused by hypercalcaemia rather than metastases. A multidisciplinary approach with experienced endocrinologists, pathologists, radiologists, nuclear medicine doctors, oncologists, and surgeons is needed to optimize patient outcome. (Endokrynol Pol 2015; 66 (2): 150–167)Rak przytarczyc (PC) jest rzadkim nowotworem złośliwym układu wewnątrzwydzielniczego, a także rzadką przyczyną pierwotnej nadczynności przytarczyc. Zazwyczaj wiąże się z wysokim odsetkiem miejscowych i odległych przerzutów. Wyniki badań laboratoryjnych i objawy kliniczne mogą przypominać te spotykane w przebiegu gruczolaków przytarczyc. Równie niespecyficzny jest obraz histopatologiczny raka przytarczyc, co powoduje trudności w diagnostyce różnicowej ze zmianami łagodnymi, będącymi gruczolakami. Właściwe rozpoznanie często jest stawiane z kilkumiesięcznym lub kilkuletnim opóźnieniem, w oparciu o nawrót choroby lub pojawiające się przerzuty. Mając na uwadze ten fakt, rak przytarczyc ciągle pozostaje wyzwaniem diagnostycznym i terapeutycznym dla wielu specjalistów. Jakkolwiek, wyróżnia się jednak pewne objawy, których obecność może pomóc w postawieniu właściwej diagnozy. Leczenie chirurgiczne pozostaje nadal jedyną skuteczną opcją terapeutyczną, nawet w sytuacji pojawienia się zmian przerzutowych. W zaawansowanych, nieoperacyjnych przypadkach głównym celem leczenia pozostaje obniżanie stężenia wapnia we krwi i kontrola wielkości guza. Śmiertelność związana z rakiem przytarczyc wynika raczej z hiperkalcemii, niż obecności przerzutów. W celu poprawy wyników leczenia, niezbędne jest podejście wielodyscyplinarne oraz współdziałanie wielu doświadczonych specjalistów: endokrynologów, patologów, radiologów, medyków nuklearnych, onkologów i chirurgów. (Endokrynol Pol 2015; 66 (2): 150–167

Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma

The American Thyroid Association appointed a Task Force of experts to revise the original Medullary Thyroid Carcinoma: Management Guidelines of the American Thyroid Association

Skip metastases to lateral cervical lymph nodes in differentiated thyroid cancer: A systematic review

Papillary thyroid carcinoma is a slow-growing cancer with a generally good prognosis that sometimes have an aggressive behaviour. Metastases to neck lymph nodes is the first step of the diffusion. The central neck compartment is involved most commonly. The ipsilateral lateral neck compartments are usually involved afterwards, and the involvement of the contralateral one is considered a quite rare occurrence. In more rare cases, metastases to lateral neck compartment without central lymph node metastasis (so called skip metastases) could be observed. Aim of this literature review study is to analyse the average incidence, pattern and risk factors of this occurrence.This study was performed according to PRISMA criteria. A final selection of 13 articles published in English language from 1997 to 2017 was performed. Any research article, review or meta-analysis was taken into consideration. Research was expanded considering the related references of articles.The incidence of skip metastases ranged from 1.6 to 21.8%. Risk factors such as age>45years, size <5mm and tumor located in the upper pole or isthmus of thyroid gland were found.Due to the frequency of skip metastases in thyroid cancer, a careful preoperative examination of lateral lymph nodes should be necessary

Relevance of Ultrasound in the Diagnosis and Management of Malignancy of the Thyroid Disorders

BACKGROUND: The recent prevalence of ultrasonography has facilitated the early detection and qualitative evaluation of thyroid nodules – to differentiate between thyroid carcinoma and benign nodule, between metastatic lymph node and reactive node. It has moved from the suite of the radiologist to the surgeon’s office. AIM OF THE STUDY: The aim of the present study was to evaluate the relevance of SPUS in the diagnosis and surveillance of malignancy of the thyroid. METHODS: Surgeon performed ultrasound for 389 patients and the data of 350 patients who underwent total thyroidectomy was compared with the report of the RPUS, FNAC and HPE. The sensitivity, specificity, positive predictive value, negative predictive value for each was calculated. The nodule characteristics – echogenicity, margins and calcifications were analysed for correlation with malignancy. CONCLUSIONS: Surgeon who is more familiar with the anatomy and patho-physiology of thyroid disorders triages the nodule better. Multivariate analysis of nodule characteristics showed that heteroechogenicity, irregular margins and microcalcifications had a greater association with DTC after adjustment for the other characteristics