Lege Artis Medicinae

[Genetic background of thyroid cancers]

HALÁSZLAKI Csaba1,2, LAKATOS Péter1, KÓSA P. János1, BALLA Bernadett1, JÁRAY Balázs3, TAKÁCS István1

JANUARY 20, 2012

Lege Artis Medicinae - 2012;22(01)

[Molecular genetics has become an indispensable diagnostic tool in a number of diseases. The most frequent thyroid tumours are associated with genetic alterations that might be used for diagnostic purpose in the future. Somatic mutations and rearrangements in BRAF, RAS family RET/PTC and PAX8/PPAR-gamma genes may occur in papillary and follicular thyroid carcinomas. Other mutations of the RET gene can be found in medullary carcinomas (in sporadic as well as hereditary types), whereas mutations of the genes TP53, RAS, and BRAF are associated with poorly differentiated and anaplastic carcinomas. At present, the most reliable diagnostic tool for the differential diagnosis of thyroid nodules is fine-needle aspiration cytology. However, the existing malignancy cannot be unequivocally proven in up to 10-40% of all samples. On the basis of previous results, genetic examination of fine needle aspiration samples from thyroid nodules can contribute to a more precise diagnosis and the timely removal of potentially malignant nodules.]

AFFILIATIONS

  1. Semmelweis Egyetem, I. Sz. Belgyógyászati Klinika
  2. Fôvárosi Önkormányzat Szent János Kórháza és Észak-Budai Egyesített Kórházai: Szent Margit Kórház IV. Sz. Belgyógyászati Osztály
  3. Semmelweis Egyetem, II. Sz. Patológiai Intézet

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VAJDA Adrienne, LÉVAY Bernadett

[INTRODUCTION - Pilomatrix carcinoma is a very rare malignant tumour, which derives from hair matrix cells. The male:female ratio among patients is 4:1, the mean age of patients is 45 years. This tumour type is very aggressive and grows slowly. CASE REPORT - The authors describe the case of a 37-year-old man who presented in 2004 with an approximately 2×2 cm, compact lesion tumour in the lumbar region. The tumour was excised and diagnosed as carcinoma sebaceum on the basis of histological examination. Several weeks after surgery, a protruding, semi-spherical lesion with a diameter of 2 cm appeared in the scar. The patient was referred to our hospital for excision of this lesion and for assessing the possibility of Muir-Torre syndrome. The examinations did not indicate the presence of any internal tumours. The recurrent tumour was excised with a 2 cm intact margin. Histological examination confirmed the diagnosis of pilomatrix carcinoma. In 2005, two new tumours were excised and semithick skin was transplanted in several sessions. At an oncological follow-up examination in 2009, a 13×7 mm lymph node was felt in the righ inguinal region, which was found to be a metastasis of pilomatrix carcinoma on the basis of aspiration cytology. Surgical block dissection was performed, followed by postoperative radiotherapy at a dose of 25×2 Gy. At present, the patient is symptom- free. Thoracic-abdominal CT and clinical examination performed in early June 2011 did not indicate progression of the original disease. CONCLUSION - Pilomatrix carcinoma with a lymph node metastasis has not been previously reported in Hungarian. The diagnosis was established on the basis of histological examination, which was indispensable for successful treatment.]

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[Thyroid cancers derived from follicular epithelial cells are histologically classified as papillary, follicular and anaplastic. Cancers that originate from parafollicular, or C-cells, are termed medullary carcinomas. Their annual incidence is fairly low; 3 to 7 cases per 100 000 people. After the Chernobyl disaster, however, thyroid cancers have received much attention. They often occur at young age, and frequently and early give metastases. They typically grow slowly and have a good prognosis even in the metastatic stage. The main prognostic factors include age, tumour size and extent, the completeness of surgical removal, distant metastases and tumour grade. Based on these parameters, they are classified into high-risk and low-risk groups. There are no prospective randomized studies available on the optimal treatment of thyroid cancers. Their biological aggressiveness differs according to geographic location, which explaines why the management of thyroid carcinomas has not been standardized internationally. Contrary to America and Australia, in Europe there are several endemic goitre regions, and background radiation is higher. It is generally accepted that here the standard therapy of choice is total thyreoidectomy with adequate lymph node dissection followed by postoperative radioiodine ablation. It is a reasonable demand to minimize the higher morbidity associated with radical surgery (e.g., recurrent nerve palsy, postoperative hypoparathyroidism) below 1%. It is recommended that such operations are performed by experienced thyroid surgeons in centres with multidisciplinary endocrine teams.]