Role of gene sequencing in classifying struma ovarii: BRAF p.G469A mutation and TERT promoter alterations favour malignant struma ovarii.

AIMS: Struma ovarii (SO) are rare, accounting for 0.3-1% of ovarian tumours, and include benign and malignant lesions. In most cases, histology is not predictive of clinical outcome and prognosis. The prognosis of histologically malignant thyroid-type carcinomas can indeed be excellent, while SO, composed of normal thyroid tissue, can recur and are designated highly differentiated follicular carcinoma of the ovary. Clearer diagnostic criteria are therefore required. METHODS AND RESULTS: We retrospectively studied 31 SO using DNA and RNA sequencing with pan-cancer gene panels, including eight biologically malignant SO (BMSO) defined based on ovarian serosal or extra-ovarian dissemination at presentation or during follow-up, 10 stage IA histologically malignant SO (HMSO) with thyroid-type carcinoma morphology and 13 biologically and histologically benign SO (BSO), with none of the above-mentioned characteristics. Molecular alterations were observed in 87.5% of BMSO, 70% of HMSO and 7.7% of BSO (P < 0.001). All patients with a peritoneal dissemination at presentation or during follow-up had at least one gene alteration. BRAF mutations (44.5%) were only observed in malignant forms (HMSO and BMSO) and TERT promoter alterations (25%) only in cases of BMSO. The BRAF p.G469A mutation, which is extremely rare in thyroid carcinomas, was the molecular alteration most frequently associated with malignant SO (28.5%). CONCLUSION: Our results highlight the clinical utility of molecular sequencing in SO, based on this limited number of cases. However, as malignant SO evolve slowly, more extensive molecular studies in SO with more than 10 years' follow-up are required to draw any conclusions on the prognostic value of the associated gene alterations.

[Differential diagnostic between hepatocellular carcinoma and hepatoid carcinoma with bone metastasis revelation: What tools can be used?] / Diagnostic différentiel entre un carcinome hépatocellulaire et un carcinome hépatoïde à révélation métastatique osseuse : quels outils sont à disposition ?

Bone metastases of hepatocellular carcinoma (HCC) are rare and disease-revealing bone metastasis are exceptional. Here, we report the case of a 69-year-old man with a cervical vertebral metastasis of hepatocellular carcinoma. Morphological aspect of a metastatic tumor with eosinophilic and polygonal cells raises the question of the differential diagnosis between a localization of a hepatocellular carcinoma or an hepatoid carcinoma, notably when the metastasis is the first clinical manifestation. The morphological aspect by itself does not provide strong enough arguments for diagnosis. Well selected immunohistochemical markers can sometimes help to orientate towards one of the two hypotheses, in particular SALL4 and LIN28 which are in favour of hepatoid carcinoma when both are positive. Finally, as these two entities have different molecular profiles, molecular study can also be helpful to distinguish them. Indeed, HCCs often present TERT promoter, CTNNB1 mutations and IL-6/JAK/STAT pathway activation while hepatoid adenocarcinoma frequently presents chromosome 20 long arm gain. TP53 mutations are found in both entities and are therefore not discriminating. Differential diagnosis is important because the treatment will be that of the primary. Prognostic data for HCC revealed by bone metastasis are scarce, although they seem to be associated with a poor prognosis, with a 1 to 2 months overall survival. There is currently no data for hepatoid adenocarcinoma with bone metastasis.

[Adenomatoid tumor of the adrenal gland: Clinicopathologic characteristics and differential diagnosis on two tumors of exceptional adrenal location]. / Tumeur adénomatoïde de la surrénale : aspects clinico-pathologiques et diagnostics différentiels de deux tumeurs de localisation surrénaliennes exceptionnelles.

Adenomatoid tumors are benign tumors from mesothelial origin, usually occurring in the genital tract. Extragenital locations, especially in the adrenal gland are extremely rare. Here we are reporting two cases of a 28-year-old and 50-year-old men with an adenomatoid tumor of the right adrenal gland. Usual morphological aspects join scattered and microcystic pattern with epithelioid or signet-ring cells. According to the morphological features, main differential diagnoses are adenocarcinoma metastasis, vascular tumors or mesotheliomas. Immunohistochemistry provides precious help to confirm the mesothelial origin thanks to positivity of epithelial markers (CK7, AE1-AE3, CK5/6) coupled to mesothelial markers (D2-40, Calretinin, WT1). On the other hand, there is no loss of BAP1 by immunohistochemistry and usually a surexpression of P16. Adrenal gland adenomatoid tumor is a benign tumor, which can be promoted by iatrogenous or constitutive immunodepression.

18F-FDG PET/CT of a Rare Case of an Adenomatoid Tumor of the Adrenal Gland.

A 28-year old man, with previous history of chronic abdominal pain, was referred to our nuclear medicine center for an F-FDG PET/CT following the fortuitous discovery of a 48-mm right adrenal gland lesion of heterogeneous density at the CT scan. The PET/CT showed an isolated heterogeneous significant uptake evocative of neoplasia. Surprisingly, the anatomopathological analysis after surgery revealed an adenoid tumor of the adrenal gland. This case of a rare benign tumor can be a source of false-positive and mimicking malignancies in the exploration of adrenal lesions.