A rare association of two endocrine tumours: non-functional oncocytic adrenocortical carcinoma and Papillary thyroid carcinoma

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Jorge Gabriel Ruiz-Sánchez ◽  
Paola Parra Ramírez ◽  
Arturo Lisbona Catalán
Keyword(s):  
Adrenocortical Carcinoma ◽  
Fdg Pet ◽  
Tp53 Gene ◽  
Whole Body ◽  
Emission Computed Tomography ◽  
Papillary Thyroid ◽  
Genetic Syndromes ◽  
Endocrine Tumours ◽  
Li Fraumeni Syndrome ◽  
Rare Association

Abstract Objectives To describe a rare association of two endocrine tumours in a clinical case. Case presentation A 54-year-old woman with a classic Papillary thyroid cancer (PTC) assessed by the Endocrinology Department of a tertiary hospital from May-2015 to May-2020. PTC was treated with a total thyroidectomy and lymphadenectomy in May-2015. Initial staging (AJCC/TNM 7th edition): T3N1bMx. Additionally, two ablative doses of 150 mCi of 131-I (RAI) were administered until September-2016. No pathological uptake was found on the post-RAI whole-body scan at any level. Due to a persistent incomplete biochemical response in February-2017, a 18Fluor-dexosiglucose positron emission computed tomography (FDG-PET) was performed. FDG-PET showed an intense pathological deposit in the right adrenal, suggestive of malignancy. Right adrenalectomy was carried out, and pathology revealed an Adrenocortical carcinoma (ACC). Genetic syndromes associated to ACC are: Li-Fraumeni syndrome (caused by an autosomal mutation in the TP53 gene), the Multiple Endocrine Neoplasia (MEN) type 1 (caused by Menin gene mutations), and MEN type 4 (caused by heterozygous mutations in the CDNK1B gene). However, none of them are associated to PTC. Conclusions To our knowledge this is the sixth published case reporting an ACC in presence of a PTC. The pathological factors behind the relation between these malignancies have not been elucidated. We do not discard the possibility of a genetic relationship between PTC and ACC.

scholarly journals Efficacy of oral metformin in a patient with metastatic adrenocortical carcinoma: Examination of mechanisms and therapeutic implications

Rare Tumors ◽  
2018 ◽  
Vol 10 ◽  
pp. 203636131774964 ◽  
Author(s):  
RD Peixoto ◽  
LM Gomes ◽  
TT Sousa ◽  
DJ Racy ◽  
M Shigenaga ◽  
...  
Keyword(s):  
Adrenocortical Carcinoma ◽  
Tp53 Mutation ◽  
Germ Line ◽  
Objective Response ◽  
Tp53 Gene ◽  
Li Fraumeni Syndrome ◽  
Therapeutic Implications ◽  
Treatment Regimens ◽  
First Line Therapy ◽  
Li Fraumeni

Although rare, adrenocortical carcinoma is among the most common tumors found in children with Li-Fraumeni syndrome and Li-Fraumeni-like syndrome, associated with germ-line mutations in the TP53 gene. In southern Brazil, one form of Li-Fraumeni syndrome, associated with childhood adrenocortical carcinoma, is caused by a mutation in the R337H TP53 tetramerisation domain and is attributed to a familial founder effect. Adrenocortical carcinoma is considered an aggressive neoplasm, usually of poor prognosis and is generally unresponsive to systemic chemotherapy. Optimal treatment regimens remain to be established. We report the case of a young woman with metastatic adrenocortical carcinoma, who achieved stable disease with mitotane, cisplatin, doxorubicin, and etoposide as first-line therapy, but then had an objective response to oral metformin that lasted 9 months. The presence of the R337H TP53 mutation suggests a mechanism for the observed response to metformin.

scholarly journals Incidental finding of ovarian teratoma on post-therapy scan for papillary thyroid cancer and impact of SPECT/CT imaging

2011 ◽  
Vol 55 (7) ◽  
pp. 490-493 ◽  
Author(s):  
Anwar Ali Jammah ◽  
Albert Driedger ◽  
Irina Rachinsky
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Photon Emission ◽  
Thyroid Tissue ◽  
Cystic Teratoma ◽  
Whole Body ◽  
Ovarian Teratoma ◽  
Emission Computed Tomography ◽  
Papillary Thyroid

A 41-year old woman post thyroidectomy and neck dissection is presented in this case. She initially presented goiter and an enlarged cervical lymph node. She had no family history of cancer or radiation therapy. She had total thyroidectomy and found to have papillary thyroid cancer (T4N1M0). Histopathology report revealed multifocal classical papillary thyroid carcinoma with lympho-vascular invasion, extra-thyroidal extension, and positive lymph nodes. She was treated with 6.5 Gigabecquerel (GBq) of 131Iodine. Whole-body scan showed uptake in the neck and large focus in the left lower abdomen. Single-photon emission computed tomography SPECT/CT demonstrated a round shaped mass in the left pelvis. Pathology revealed cystic teratoma with benign thyroid tissue (struma ovarii), and no malignancy. Two months later, she had the second treatment with 5.5 GBq 131Iodine. Her follow-up stimulated and non-stimulated thyroglobulin levels were significantly lower, and there was no abnormal uptake in the follow-up scan.

scholarly journals A rare case of an aldosterone secreting metastatic adrenocortical carcinoma and papillary thyroid carcinoma in a 31-year-old male

Rare Tumors ◽  
2011 ◽  
Vol 3 (4) ◽  
pp. 141-145 ◽  
Author(s):  
Stephen M. Wanta ◽  
Marina Basina ◽  
Steven D. Chang ◽  
Daniel T. Chang ◽  
James M. Ford ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Adrenocortical Carcinoma ◽  
Left Lobe ◽  
Adjuvant Radiation ◽  
Type I ◽  
Papillary Thyroid ◽  
Refractory Hypertension ◽  
Li Fraumeni Syndrome ◽  
Men I

We report a rare synchronous presentation of adrenocortical carcinoma (ACC) and papillary thyroid carcinoma (PTC). A 31-year-old male first presented with a large left adrenal mass that was identified during the workup for refractory hypertension due to hyperaldosteronism. The mass was removed surgically with pathology showing ACC. The patient was then treated with adjuvant radiation therapy and mitotane chemotherapy. Four months post ACC resection, metastatic ACC to the right upper lung and PTC in the left lobe of the thyroid were found in surveillance imaging. He subsequently developed pulmonary, contralateral adrenal and brain metastases from his ACC. Li Fraumeni syndrome and Multiple Endocrine Neoplasia Type I (MEN I) were considered, but testing of both P53 and menin genes showed no mutation. We also performed a review of the literature and found three similar cases, however gene mutation analysis was not performed..

scholarly journals Prevalence of Germline TP53 Mutations in a Prospective Series of Unselected Patients with Adrenocortical Carcinoma

2013 ◽  
Vol 98 (1) ◽  
pp. E119-E125 ◽  
Author(s):  
Victoria M. Raymond ◽  
Tobias Else ◽  
Jessica N. Everett ◽  
Jessica M. Long ◽  
Stephen B. Gruber ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Family History ◽  
Adrenocortical Carcinoma ◽  
Genetic Counselor ◽  
Tp53 Gene ◽  
Age At Diagnosis ◽  
Tp53 Mutations ◽  
Li Fraumeni Syndrome ◽  
Clinical Criteria ◽  
Li Fraumeni

Abstract Purpose: Adrenocortical carcinoma (ACC) is a hallmark cancer in families with Li Fraumeni syndrome (LFS) caused by mutations in the TP53 gene. The prevalence of germline TP53 mutations in children diagnosed with ACC ranges from 50–97%. Although existing criteria advocate for TP53 testing in all patients with ACC regardless of age at diagnosis, the overall prevalence of germline mutations in patients diagnosed with ACC has not been well studied. Patients and Methods: A total of 114 patients with confirmed ACC evaluated in the University of Michigan Endocrine Oncology Clinic were prospectively offered genetic counseling and TP53 genetic testing, regardless of age at diagnosis or family history. Ninety-four of the 114 patients met with a genetic counselor (82.5%), with 53 of 94 (56.4%) completing TP53 testing; 9.6% (nine of 94) declined testing. The remainder (32 of 94; 34%) expressed interest in testing but did not pursue it for various reasons. Results: Four of 53 patients in this prospective, unselected series were found to have a TP53 mutation (7.5%). The prevalence of mutations in those diagnosed over age 18 was 5.8% (three of 52). There were insufficient data to estimate the prevalence in those diagnosed under age 18. None of these patients met clinical diagnostic criteria for classic LFS. Three of the families met criteria for Li Fraumeni-like syndrome; one patient met no existing clinical criteria for LFS or Li Fraumeni-like syndrome. Three of the four patients with mutations were diagnosed with ACC after age 45. Conclusions: Genetic counseling and germline testing for TP53 should be offered to all patients with ACC. Restriction on age at diagnosis or strength of the family history would fail to identify mutation carriers.

The therapeutic impact of 18F-FDG whole body PET

2005 ◽  
Vol 44 (01) ◽  
pp. 8-14 ◽  
Author(s):  
B. Dietl ◽  
J. Marienhagen
Keyword(s):  
Fdg Pet ◽  
Diagnostic Information ◽  
Whole Body ◽  
Therapeutic Concept ◽  
Therapeutic Impact ◽  
Additional Diagnostic Information ◽  
Therapeutic Decisions ◽  
Target Volumes ◽  
18F Fdg ◽  
Pet Scans

Summary Aims: An explorative analysis of the diagnostic as well as therapeutic impact of 18F-FDG whole body PET on patients with various tumours in the setting of an university hospital radiation therapy was performed. Patients and methods: 222 FDG PET investigations (148 initial stagings, 74 restagings) in 176 patients with diverse tumour entities (37 lung carcinoma, 15 gastrointestinal tumours, 38 head and neck cancer, 30 lymphoma, 37 breast cancer, 19 sarcoma and 16 other carcinomas) were done. All PET scans were evaluated in an interdisciplinary approach and consecutively confirmed by other imaging modalities or biopsy. Unconfirmed PET findings were ignored. Proportions of verified PET findings, additional diagnostic information (diagnostic impact) and changes of the therapeutic concept intended and documented before PET with special emphasis on radiooncological decisions (therapeutic impact) were analysed. Results: 195/222 (88%) FDG-PET findings were verified, 104/222 (47%) FDG-PET scans yielded additional diagnostic information (38 distant, 30 additional metastasis, 11 local recurrencies, 10 primary tumours and 15 residual tumours after chemoptherapy). The results of 75/222 (34%) scans induced changes in cancer therapy and those of 58/222 (26%) scans induced modifications of radiotherapeutic treatment plan (esp. target volumes). Conclusion: 18F-FDG whole body PET is a valuable diagnostic tool for therapy planning in radiooncology with a high impact on therapeutic decisions in initial staging as well as in restaging. Especially in a curative setting it should be used for definition of target volumes.

A rare association of Adrenocortical carcinoma with haematological and breast malignancy in a young female

2019 ◽  
Author(s):  
Muhammad Murtaza Shafqat ◽  
Naveed Khalily ◽  
Herpret Deol ◽  
Aamir Naeem ◽  
Shujah Dar
Keyword(s):  
Adrenocortical Carcinoma ◽  
Young Female ◽  
Rare Association ◽  
Breast Malignancy

scholarly journals Brain Metabolic Correlates of Persistent Olfactory Dysfunction after SARS-Cov2 Infection

Biomedicines ◽  
2021 ◽  
Vol 9 (3) ◽  
pp. 287
Author(s):  
Maria Isabella Donegani ◽  
Alberto Miceli ◽  
Matteo Pardini ◽  
Matteo Bauckneht ◽  
Silvia Chiola ◽  
...  
Keyword(s):  
Fdg Pet ◽  
Structural Connectivity ◽  
Statistical Parametric Mapping ◽  
Brain Regions ◽  
Olfactory Dysfunction ◽  
Whole Body ◽  
Mapping Software ◽  
18F Fdg ◽  
Left Insula

We aimed to evaluate the brain hypometabolic signature of persistent isolated olfactory dysfunction after SARS-CoV-2 infection. Twenty-two patients underwent whole-body [18F]-FDG PET, including a dedicated brain acquisition at our institution between May and December 2020 following their recovery after SARS-Cov2 infection. Fourteen of these patients presented isolated persistent hyposmia (smell diskettes olfaction test was used). A voxel-wise analysis (using Statistical Parametric Mapping software version 8 (SPM8)) was performed to identify brain regions of relative hypometabolism in patients with hyposmia with respect to controls. Structural connectivity of these regions was assessed (BCB toolkit). Relative hypometabolism was demonstrated in bilateral parahippocampal and fusiform gyri and in left insula in patients with respect to controls. Structural connectivity maps highlighted the involvement of bilateral longitudinal fasciculi. This study provides evidence of cortical hypometabolism in patients with isolated persistent hyposmia after SARS-Cov2 infection. [18F]-FDG PET may play a role in the identification of long-term brain functional sequelae of COVID-19.

scholarly journals Multi-task weak supervision enables anatomically-resolved abnormality detection in whole-body FDG-PET/CT

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Sabri Eyuboglu ◽  
Geoffrey Angus ◽  
Bhavik N. Patel ◽  
Anuj Pareek ◽  
Guido Davidzon ◽  
...  
Keyword(s):  
Fdg Pet ◽  
Location Estimation ◽  
Supervised Machine Learning ◽  
Whole Body ◽  
Free Text ◽  
Abnormality Detection ◽  
Weak Supervision ◽  
Radiology Reports ◽  
Pet Ct ◽  
Fdg Pet Ct

AbstractComputational decision support systems could provide clinical value in whole-body FDG-PET/CT workflows. However, limited availability of labeled data combined with the large size of PET/CT imaging exams make it challenging to apply existing supervised machine learning systems. Leveraging recent advancements in natural language processing, we describe a weak supervision framework that extracts imperfect, yet highly granular, regional abnormality labels from free-text radiology reports. Our framework automatically labels each region in a custom ontology of anatomical regions, providing a structured profile of the pathologies in each imaging exam. Using these generated labels, we then train an attention-based, multi-task CNN architecture to detect and estimate the location of abnormalities in whole-body scans. We demonstrate empirically that our multi-task representation is critical for strong performance on rare abnormalities with limited training data. The representation also contributes to more accurate mortality prediction from imaging data, suggesting the potential utility of our framework beyond abnormality detection and location estimation.

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