The link between thyroid carcinoma and cutaneous melanoma two clinical cases
F.Angelini*, L.Bartolotta*, M.Grosso**, P.Berti***, M. Massi***, D. Volterrani** G.Boni** *Istituto Ricerche Cliniche Ecomedica, Empoli (FI), Italy
** Centro Regionale Medicina Nucleare, Università di Pisa, Italy
*** Clinica Chirurgica, Università di Pisa, Italy
BRAF is a serine/threonine kinase. Recent studies have reported that mutations of the BRAF gene were detected with varying frequencies in several cancers, notably more than 60% in melanoma. Mutations of BRAF and RAS genes are more frequently in thyroid carcinoma. BRAF mutations were detected exclusively in papillary carcinomas (40 in 76 cases: 53%), and were exclusively V599E, a mutation frequently observed in other carcinomas. Below we shall present two cases which have come to our attention. MATERIALS AND METHODS Case 1 Woman aged 36. In 2002 the patient underwent a histological test for a left axillary neoformation, described as a cutaneous diamond-shape 1.6x1cm, the aforesaid test led to the diagnosis of an invasive, superficial spreading melanoma with adjacent naevic component and modest regressive phenomena. IV level, 2.3mm thick. After being admitted to Cesena Hospital she was treated with radicalisation of the melanoma of the front pillar of the left axilla and to a biopsy of the LFN sentinel, the histological test revealed the presence of melanoma micro-metastasis (<1mm) in the lymph node (immuno-histo-chemical test: s100+; HMB45+). In October 2005 a full corporeal PET was performed showing areas of moderate hyper-uptake of the metabolic tracer (18FDG) in the thyroid and bilateral mammary loci. In 2006 the patient underwent a total thyroidectomy due to papillary carcinoma of the right lobe of the thyroid. The histological test showed the presence of a papillary carcinoma of 0.8 cm classic variant, with areas of taller cells (30%), infiltrating the parenchyme. The capsule of the thyroid gland was infiltrated but not passed through (LD1-2). Collateral micro-macro-follicular thyroid parenchyme. Two peri-thyroid lymph nodes with reactive hypoplasia. Subsequently a molecular analysis was performed to search for mutation in exon 15 of the BRAF gene which gave a result of mutation of the BRAF gene at codon 1799: T1799A (V600E) In March 2006 the patient was treated to radio-metabolic therapy for thyroid carcinoma (100 mci) and WBS post dose which revealed the presence of iodine fixation in the thyroid region to be attributed to post surgical residues. And slight hyper-uptake in the hepatic locus. Case II Woman aged 56. In 1997 the patient underwent a scapolectomy for a 1st degree chondrosarcoma and removal of a melanoma situated on the right arm. In May 2005 the patient was given a thyroidectomy for a thyroid carcinoma and subsequent radio-metabolic treatment with WBS post dose which revealed the presence of iodine fixation in the thyroid region to be attributed to post surgical residues. CONCLUSIONS: We may conclude that at the moment the BRAF mutation is able to activate 70% of the forms of melanoma, 30% of some tumours of the thyroid and uterus and 10% of cases of the colon and rectum. In conclusion our opinion is that a multidisciplinary approch is from advising when the clinical indications exist and orchestrates them in order to suspect these types of cancer.
Lavoro presentato al :
3° Joint Meeting AME – AACE in Endocrinology and Metabolism
Verona 5-6 october 2006