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Oncocytic Adrenocortical Neoplasm with Concomitant Papillary Thyroid Cancer.

ABSTRACT: Adrenal oncocytoma (AO) is an extremely rare adrenocortical neoplasm and little is known about its malignant potential, secretory properties, and hereditary origin. We present the case of a benign AO with concomitant incidentally found papillary thyroid cancer (PTC) and review similar cases in the literature. Immunohistochemistry and next-generation sequencing (NGS) were performed. A 66-year-old women was incidentally found to have a large, androgen-secreting right adrenal mass. 18F-Fluorodeoxyglucose positron emission tomography showed intense uptake (SUVmax 88.7) of this mass and found a hypermetabolic right thyroid mass. Open adrenalectomy was performed for this highly suspicious adrenal mass. Histopathology revealed benign AO that was BRAFV600E negative, with low Ki-67, and no somatic mutation found on NGS. Thyroidectomy revealed invasive, BRAFV600E-positive PTC. At 6?months follow-up, androgen levels returned to normal, and no recurrence was seen on imaging. To our knowledge, this is the first report of an androgen-secreting AO with concomitant PTC. Possibly the simultaneous discovery of two independent neoplasms was observed. In conclusion, this case highlights that care should be given to exclude concomitant neoplasms. Long-term and regular imaging with biochemical follow-up is warranted, since the outcome and clinical behavior of AO remains uncertain.

SUBMITTER: Podetta M

PROVIDER: S-EPMC5786566 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Oncocytic Adrenocortical Neoplasm with Concomitant Papillary Thyroid Cancer.

Podetta Michele M Pusztaszeri Marc M Toso Christian C Procopiou Michel M Triponez Frédéric F Sadowski Samira Mercedes SM

Frontiers in endocrinology 20180122

Adrenal oncocytoma (AO) is an extremely rare adrenocortical neoplasm and little is known about its malignant potential, secretory properties, and hereditary origin. We present the case of a benign AO with concomitant incidentally found papillary thyroid cancer (PTC) and review similar cases in the literature. Immunohistochemistry and next-generation sequencing (NGS) were performed. A 66-year-old women was incidentally found to have a large, androgen-secreting right adrenal mass. <sup>18</sup>F-F ...[more]

PMID: 29403439

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Project description:Background Intraductal oncocytic papillary neoplasms (IOPNs) place at the oncocytic extreme of the intraductal pancreatic neoplasm spectrum and display typical morphological features. Their identification in 1996 by Adsay et al. has been followed by a growing number of cases, paving the way for a deeper understanding of this underestimated entity. Contrarily to intraductal papillary mucinous neoplasms (IPMNs), most IOPNs run an indolent course and surgery is usually curative. Pancreatic IOPNs tend to develop from the main pancreatic duct (MPD) and their diagnosis is either incidental or subsequent to mass-related symptoms. Up to 30% of cases show concomitant areas of minimal stromal invasion and loco-regional or systemic spread are confined to a minority of cases. Biological hallmarks of IOPNs are being identified, including recurrent kinase gene rearrangements. Morphological and biological traits of IOPNs seem to overlap with those of other malignancies. A deeper understanding of these entities is needed in order to shed light upon the nature of pancreato-biliary oncocytic neoplasms. This case report describes two patients with a diagnosis of IOPN—one of them accounting for the largest IOPN ever described—and provides a brief review of recent discoveries on the subject. Case Description We describe two cases of IOPN occurring in adult male patients, respectively in their 60s and 70s. Both patients had unremarkable clinical history. In case 1 the diagnosis was coincidental to a right renal colic; case 2 complained a right lumbar pain radiating to the homolateral groin. In both cases imaging analyses revealed a voluminous pancreatic mass, posing the indication to laparoscopic pancreatectomy. Gross and histological features were consistent with the diagnosis of IOPN. Surgical margin were free from disease and the patient did not undergo further treatment. After a 10- and 7-month follow-up respectively, patients did not experience relapse. Conclusions Recent immunohistochemical (IHC) and molecular data reveal unique characteristics of IOPNs, highlighting the substantial differences from IPMNs. Further research is needed in order to identify novel prognostic and predictive markers applicable to oncocytic neoplasms of the pancreato-biliary tract.

Project description:In 2010, the World Health Organization reclassified the entity originally described as intraductal oncocytic papillary neoplasm as the 'oncocytic subtype' of intraductal papillary mucinous neoplasm. Although several key molecular alterations of other intraductal papillary mucinous neoplasm subtypes have been discovered, including common mutations in KRAS, GNAS, and RNF3, those of oncocytic subtype have not been well characterized. We analyzed 11 pancreatic 'oncocytic subtype' of intraductal papillary mucinous neoplasms. Nine pancreatic 'oncocytic subtype' of intraductal papillary mucinous neoplasms uniformly exhibited typical entity-defining morphology of arborizing papillae lined by layers of cells with oncocytic cytoplasm, prominent, nucleoli, and intraepithelial lumina. The remaining two were atypical. One lacked the arborizing papilla and had flat oncocytic epithelium only; the other one had focal oncocytic epithelium in a background of predominantly intestinal subtype intraductal papillary mucinous neoplasm. Different components of this case were analyzed separately. Formalin-fixed, paraffin-embedded specimens of all cases were microdissected and subjected to high-depth-targeted next-generation sequencing for a panel of 300 key cancer-associated genes in a platform that enabled the identification of sequence mutations, copy number alterations, and select structural rearrangements involving all targeted genes. Fresh frozen specimens of two cases were also subjected to whole-genome sequencing. For the nine typical pancreatic 'oncocytic subtype' of intraductal papillary mucinous neoplasms, the number of mutations per case, identified by next-generation sequencing, ranged from 1 to 10 (median=4). None of these cases had KRAS or GNAS mutations and only one had both RNF43 and PIK3R1 mutations. ARHGAP26, ASXL1, EPHA8, and ERBB4 genes were somatically altered in more than one of these typical 'oncocytic subtype' of intraductal papillary mucinous neoplasms but not in the other two atypical ones. In the neoplasm with flat oncocytic epithelium, the only mutated gene was KRAS. All components of the intestinal subtype intraductal papillary mucinous neoplasms with focal oncocytic epithelium manifested TP53, GNAS, and RNF43 mutations. In conclusion, this study elucidates that 'oncocytic subtype' of intraductal papillary mucinous neoplasm is not only morphologically distinct but also genetically distinct from other intraductal papillary mucinous neoplasm subtypes. Considering that now its biologic behavior is also being found to be different than other intraductal papillary mucinous neoplasm subtypes, 'oncocytic subtype' of intraductal papillary mucinous neoplasm warrants being recognized separately.

Project description:RET/PTC rearrangements, resulting in aberrant activity of the RET protein tyrosine kinase receptor, occur exclusively in papillary thyroid cancer (PTC). In this study, we examined the association between RET/PTC rearrangements and thyroid hormone homeostasis, and explored whether concomitant diseases such as nodular goiter and Hashimoto's thyroiditis influenced this association. A total of 114 patients diagnosed with PTC were enrolled in this study. Thyroid hormone levels, clinicopathological parameters and lifestyle were obtained through medical records and surgical pathology reports. RET/PTC rearrangements were detected using TaqMan RT-PCR and validated by direct sequencing. No RET/PTC rearrangements were detected in benign thyroid tissues. RET/PTC rearrangements were detected in 23.68% (27/114) of PTC tissues. No association between thyroid function, clinicopathological parameters and lifestyle was observed either in total thyroid cancer patients or the subgroup of patients with concomitant disease. In the subgroup of PTC patients without concomitant disease, RET/PTC rearrangement was associated with multifocal cancer (P = 0.018). RET/PTC rearrangement was also correlated with higher TSH levels at one month post-surgery (P = 0.037). Based on likelihood-ratio regression analysis, the RET/PTC-positive PTC cases showed an increased risk of multifocal cancers in the thyroid gland (OR = 5.57, 95% CI, 1.39-22.33). Our findings suggest that concomitant diseases such as nodular goiter and Hashimoto's thyroiditis in PTC may be a confounding factor when examining the effects of RET/PTC rearrangements. Excluding the potential effect of this confounding factor showed that RET/PTC may confer an increased risk for the development of multifocal cancers in the thyroid gland. Aberrantly increased post-operative levels of TSH were also associated with RET/PTC rearrangement. Together, our data provides useful information for the treatment of papillary thyroid cancer.

Dataset Information

Oncocytic Adrenocortical Neoplasm with Concomitant Papillary Thyroid Cancer.

Publications

Oncocytic Adrenocortical Neoplasm with Concomitant Papillary Thyroid Cancer.

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