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Katherine Wu Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia

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Shejil Kumar Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia

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Ed Hsiao Department of Radiology, Royal North Shore Hospital, Sydney, Australia

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Ian Kerridge Department of Haematology, Royal North Shore Hospital, Sydney, Australia

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Min Ru Qiu Department of Anatomical Pathology, SydPath, St Vincent’s Hospital, Sydney, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, Australia

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Rhonda Siddall Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia

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Roderick Clifton-Bligh Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, Sydney, Australia
Northern Clinical School, University of Sydney Faculty of Medicine and Health, Sydney, Australia

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Anthony J Gill Northern Clinical School, University of Sydney Faculty of Medicine and Health, Sydney, Australia
Department of Anatomical Pathology, Royal North Shore Hospital, Sydney, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Sydney, Australia

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Matti L Gild Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, Sydney, Australia
Northern Clinical School, University of Sydney Faculty of Medicine and Health, Sydney, Australia

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Summary

RET mutations are implicated in 60% of medullary thyroid cancer (MTC) cases. The RET-selective tyrosine kinase inhibitor selpercatinib is associated with unprecedented efficacy compared to previous multi-kinase treatments. Langerhans cell histiocytosis (LCH) is a clonal histiocytic neoplasm usually driven by somatic BRAF mutations, resulting in dysregulated MAPK signalling. We describe a 22-year-old woman with metastatic MTC to regional lymph nodes, lung and liver. Tumour tissue harboured a somatic pathogenic RET variant p.(M918T) and selpercatinib was commenced. She experienced sustained clinical, biochemical and radiological responses. Two years later, she developed rapidly progressive apical lung nodules, prompting biopsy. Histopathology demonstrated LCH with a rare BRAF variant p.(V600_K601>D). The lung nodules improved with inhaled corticosteroids. We hypothesize that selective pressure from RET blockade may have activated a downstream somatic BRAF mutation, resulting in pulmonary LCH. We recommend continued vigilance for neoplasms driven by dysregulated downstream MAPK signalling in patients undergoing selective RET inhibition.

Learning points

  • Patients with RET-altered MTC can experience rapid disease improvement and sustained disease stability with selective RET blockade (selpercatinib).

  • LCH is a clonal neoplasm driven by MAPK activation, for which the most common mechanism is BRAF mutation.

  • Both MTC and pulmonary LCH are driven by dysregulated MAPK signalling pathway activation.

  • We hypothesise that the RET-specific inhibitor selpercatinib may have caused the activation of dormant LCH secondary to selective pressure and clonal proliferation.

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Kanella Kantreva Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Stavroula A Paschou Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Katerina Stefanaki Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Kanella Pappa Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Paraskevi Kazakou Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Dionysios Vrachnis Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Evangelia Kavoura Pathology Department, IASO Hospital, Athens, Greece

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Kitty Pavlakis Pathology Department, IASO Hospital, Athens, Greece

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Eirini Giovannopoulou Department of Gynecological Oncology, IASO Hospital, Athens, Greece

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Konstantinos Lathouras Department of Gynecological Oncology, IASO Hospital, Athens, Greece

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Maria Alevizaki Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Katerina Saltiki Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Summary

Struma ovarii is an ovarian teratoma that comprises 2–5% of all ovarian teratomas. Malignant transformation of struma ovarii occurs in less than 5% of all cases, and metastatic disease is even rarer. We report two cases initially diagnosed with benign struma ovarii that presented malignant transformation, specifically highly differentiated follicular carcinoma of the ovary (HDFCO), some years after the first diagnosis. Case 1 concerns a 37-year-old female featuring HDFCO of the right ovary with multiple metastatic foci, who was diagnosed with benign struma ovarii 14 years ago. Case 2 concerns a 26-year-old female diagnosed with HDFCO of the left ovary. This patient was initially diagnosed with benign struma ovarii 6 years ago that recurred 4 years after the diagnosis. Both patients were treated with surgery, adjunctive total thyroidectomy, and radioactive iodine (131I) therapy.

Learning points

  • Malignant transformation of struma ovarii is very rare (<5%).

  • Diagnosis of HDFCO without extra ovarian dissemination is difficult due to the resemblance of its histological appearance with normal thyroid tissue.

  • There is no consensus on the postoperative treatment of malignant struma ovarii (MSO). Clinical and histological features of MSO should be assessed for the postoperative treatment decisions.

  • TSH suppression and thyroglobulin level measurements are necessary for patient follow-up.

Open access
Sarah N Parry Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia

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Namson S Lau Metabolism & Obesity Services, Royal Prince Alfred Hospital, Sydney, Australia
Liverpool Diabetes Collaboration, Ingham Institute of Applied Medical Research, Sydney, Australia
South West Clinical School, University of New South Wales, Sydney, Australia

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Summary

Approximately 80% of adrenal incidentalomas are benign, and development into adrenal cortical cancer is extremely rare. This is a major reason behind clinical guidelines recommending surveillance of incidentalomas for a relatively short duration of up to 5 years. Surveillance of lesions less than 1 cm is not routinely recommended. A 70-year-old lady was diagnosed with a non-hyperfunctioning 8 mm right adrenal lesion. She underwent annual biochemical and radiological assessment for 5 years before surveillance was extended to 2-yearly intervals. The lesion was stable in size, and radiological characteristics were consistent with a benign adenoma. Seven years after the initial detection of the adrenal lesion, she developed acute abdominal pain. Imaging revealed a 7 cm right adrenal lesion, which was surgically resected and histologically confirmed to be adrenal cortical cancer. She died 1 year later. Clinical guidelines have moved towards a shortened duration of surveillance of incidentalomas. Even though malignant transformation is a rare event, it is possible that this will result in a delayed diagnosis of adrenal cortical cancer, a highly aggressive malignancy with a poor prognosis. To our knowledge, this is the first published case of an adrenal lesion of less than 1 cm developing into adrenal cortical cancer.

Learning points

  • Adrenal incidentalomas are increasingly common.

  • Clinical practice guidelines exist to aid in differentiating benign and malignant lesions and assessing functional status.

  • Transformation of adrenal incidentalomas to adrenal cortical carcinomas is a rare but recognised event.

Open access
Isabella Chiardi Thyroid Unit of Clinic for Endocrinology and Diabetology, Lugano Regional Hospital, Ente Ospedaliero Cantonale, Bellinzona, Switzerland
Faculty of Medicine and Surgery, Humanitas University, Rozzano, Milan, Italy

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Priska Gaffuri Istituto Cantonale di Patologia, Ente Ospedaliero Cantonale, Bellinzona, Switzerland

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Andrea Leoncini Servizio di Radiologia e Radiologia Interventistica, Istituto di Imaging Della Svizzera Italiana (IIMSI), Ente Ospedaliero Cantonale, Bellinzona, Switzerland

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Pierpaolo Trimboli Thyroid Unit of Clinic for Endocrinology and Diabetology, Lugano Regional Hospital, Ente Ospedaliero Cantonale, Bellinzona, Switzerland
Faculty of Biomedical Sciences, Università della Svizzera Italiana (USI), Lugano, Switzerland

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Summary

Thyroid metastases from nonthyroidal malignancies (NTMs) represent a diagnostic challenge, often displaying heterogeneous clinical manifestations. These metastases are rare but significant, accounting for approximately 2% of thyroid malignancies. Distinguishing them from primary thyroid malignancies is challenging due to the lack of specific ultrasound features, and the ultrasound-based risk stratification systems offer limited utility in such cases. Fine needle aspiration cytology is crucial for definitive diagnosis, yet it may not always provide accurate results. In this case report, we describe a unique instance of thyroid metastases originating from renal cell carcinoma, emphasizing the complexities in diagnosis and the importance of considering oncological conditions when assessing thyroid masses. Awareness of thyroid metastasis from NTMs, particularly in cases of diffuse thyroid hypoechogenicity and hypothyroidism, is essential for clinicians in their diagnostic approach.

Learning points

  • Thyroid metastases from nonthyroidal malignancies are diagnostic challenges due to their heterogeneous clinical presentations, often mimicking primary thyroid malignancies.

  • Thyroid metastases from nonthyroidal malignancies are relatively rare, but they still account for approximately 2% of thyroid malignancies.

  • It is fundamental to consider oncological conditions when assessing thyroid masses, especially in cases of diffuse thyroid hypoechogenicity, hypothyroidism, and history of other tumors.

  • Thyroid presentation is quite similar to that of autoimmune hypothyroidism, endocrinologists must be aware of the possibility of thyroid hypofunction due to the massive invasion of the parenchyma.

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John J Orrego Department of Endocrinology and Metabolism, Kaiser Foundation Health Plan of Colorado, Denver, Colorado, USA

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Joseph A Chorny Department of Pathology, Kaiser Foundation Health Plan of Colorado, Denver, Colorado, USA

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Summary

Unlike medullary thyroid carcinomas, follicular cell-derived thyroid malignancies have rarely been associated with paraneoplastic endocrine syndromes. An ultrarare case of a middle-aged man with heavily treated broadly metastatic radioactive iodine-refractory widely invasive Hürthle cell carcinoma (HCC) of the thyroid with two synchronous paraneoplastic endocrine syndromes, T3 thyrotoxicosis and hypercalcemia of malignancy, is discussed here. The levothyroxine-induced T3 thyrotoxicosis was a gradual process that became more noticeable as the tumor burden, refractory to different modalities of therapy, expanded. The 1,25-dihydroxyvitamin-D-mediated hypercalcemia, on the other hand, developed in a manner of weeks, as it usually happens. It is important to emphasize that in patients with metastatic Hürthle cell and follicular carcinomas of the thyroid, on TSH suppressive therapy, the unexplained and progressive decline in FT4 and rise in FT3 levels, resulting in an elevated FT4/FT3 ratio, could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from the prohormone T4 into the active metabolite T3 via outer ring deiodination.

Learning points

  • Albeit extremely rare, some patients with thyroid cancer can present with more than one concomitant paraneoplastic syndrome.

  • Although medullary thyroid carcinoma is the thyroid malignancy that is usually associated with paraneoplastic endocrine syndromes, follicular cell-derived thyroid cancers have been rarely described as being the culprit.

  • In patients with metastatic Hürthle cell and follicular thyroid carcinomas, the unexplained and progressive decline in FT4 and rise in FT3 levels could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from T4 into T3 leading to T3 thyrotoxicosis.

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Sandra Martens Ghent University Hospital, Ghent, Belgium

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Bruno Lapauw Ghent University Hospital, Ghent, Belgium
Ghent University, Ghent, Belgium

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Summary

Mitotane is used for treatment of advanced adrenocortical carcinoma. It is administered when the carcinoma is unresectable, metastasized, or at high-risk of recurrence after resection. In addition, mitotane is considered to have direct adrenolytic effects. Because of its narrow therapeutic–toxic range, therapeutic drug monitoring (TDM) is warranted. In 2020, a left-sided adrenal gland tumor was found (5.8 cm) in a 38-year-old man. Considering the size of this lesion and inability to exclude an adrenocortical carcinoma on imaging, a laparoscopic adrenalectomy was performed. Histopathologic examination determined presence of an adrenocortical carcinoma (pT2N0M0 ENSAT stadium II; ki67 10–15%). There was no evidence for residual or metastatic disease but given the high risk of recurrence, adjuvant therapy with mitotane was initiated. During TDM, a sudden and spuriously high level of mitotane was observed but without signs or symptoms of toxicity. After exploration, it was found that this high concentration was completely due to uncontrolled hypertriglyceridemia. After correction thereof, mitotane levels were again in the therapeutic range. This observation underscores the importance of TDM sampling in a fasting state with concurrent control of prevalent or incident dyslipidemia.

Learning points

  • TDM of mitotane is advocated to achieve therapeutic levels while avoiding toxicity. For correct TDM, sampling should be done at least 12 h after last intake of mitotane.

  • Although sampling in fasting conditions in not explicitly mentioned in the guidelines, fasting state should be considered as elevated serum triglyceride levels might cause spuriously high mitotane levels.

  • In patients undergoing treatment with mitotane and presenting with too high or unexplained fluctuating mitotane levels without signs or symptoms of toxicity, hypertriglyceridemia as a possible cause should be investigated.

  • If dyslipidemia occurs in patients under mitotane treatment, other causes than mitotane (e.g. alcohol abuse and diabetes) should be considered and appropriate treatment should be initiated.

Open access
Andreia Amado Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal

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Elisabete Teixeira i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, R. Alfredo Allen 208, 4200-135 Porto, Portugal
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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Sule Canberk i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, R. Alfredo Allen 208, 4200-135 Porto, Portugal
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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Sofia Macedo i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, R. Alfredo Allen 208, 4200-135 Porto, Portugal
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Instituto de Ciências Biomédicas de Abel Salazar, Universidade do Porto, R. Jorge de Viterbo Ferreira 228, 4050-313 Porto, Portugal

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Bárbara Castro Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal

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Hugo Pereira Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal

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João Varanda Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal

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Susana Graça Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal

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Amélia Tavares Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, R. Alfredo Allen 208, 4200-135 Porto, Portugal
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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Carlos Soares Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal

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Maria João Oliveira Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal

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Manuel Oliveira Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal

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Paula Soares i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, R. Alfredo Allen 208, 4200-135 Porto, Portugal
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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Manuel Sobrinho Simões i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, R. Alfredo Allen 208, 4200-135 Porto, Portugal
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Centro Hospitalar Universitário São João, Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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Antónia Afonso Póvoa Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal, R. Conceição Fernandes S/N, 4434-502 Vila Nova de Gaia, Portugal
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, R. Alfredo Allen 208, 4200-135 Porto, Portugal
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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Summary

We report a 61-year-old male patient without personal history of thyroid carcinoma or radiation exposure. In 2011, he presented with a cervical mass whose biopsy diagnosed a papillary thyroid carcinoma (PTC) in a lymph node metastasis (LNM). Total thyroidectomy with lymphadenectomy of central and ipsilateral compartment was performed. Histopathology identified a 2 mm follicular variant of PTC and LNM in 25/25 lymph nodes. The patient was treated with 150 mCi of radioactive iodine (RAI), followed by levothyroxine suppressive therapy. In 2016, a retrotracheal mass was diagnosed, suggesting local recurrence; patient was submitted to surgical excision and RAI therapy (120 mCi). Due to seizures, in 2019, a brain CT was performed that diagnosed brain metastases. The patient underwent debulking of the main lesion. Histopathology analysis confirmed a metastatic lesion with variated morphology: classical PTC and follicular pattern and hobnail and tall cell features. Molecular analysis revealed BRAFV600E in LNM at presentation and BRAFV600E and TERT promoter (TERTp) mutations in the recurrent LNM and brain metastasis. Based upon this experience we review the reported cases of subcentimetric PTC with brain metastases and discuss the molecular progression of the present case.

Learning points

  • Papillary microcarcinoma (PMCs) usually have very good prognosis with low impact on patient survival.

  • PMCs presenting in elderly patients with LNM at diagnosis may carry a guarded outcome.

  • Brain metastasis although rare indicate aggressive phenotypic features.

  • Patient risk stratification of PMCs based on histopathological analysis and genetic testing may have a significant impact on prognosis providing therapeutic markers, that may predict disease progression and overall outcome.

Open access
Ekaterina Kim Endocrinology Research Centre, Moscow, Russia

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Ekaterina Bondarenko Endocrinology Research Centre, Moscow, Russia

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Anna Eremkina Endocrinology Research Centre, Moscow, Russia

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Petr Nikiforovich Endocrinology Research Centre, Moscow, Russia

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Natalia Mokrysheva Endocrinology Research Centre, Moscow, Russia

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Summary

A 59-year-old male presented with an accidental thyroid mass in 2022. Ultrasound and CT scan showed a nodule 5.2 × 4.9 × 2.8 cm (EU-TIRADS 4) in the right lobe of the thyroid gland. Taking into account the results of the fine needle aspiration biopsy (Bethesda V), intrathyroid localization, and absence of clinical symptoms, a malignant tumor of the thyroid gland was suspected. The patient underwent total thyroidectomy using fluorescence angiography with indocyanine green, and two pairs of intact parathyroid glands were visualized in typical localization. Unexpected histological and immunohistochemistry examinations revealed parathyroid carcinoma. Due to the asymptomatic course of the disease and atypical localization of parathyroid tumor, primary hyperparathyroidism was not suspected before the surgery. The diagnosis of asymptomatic intrathyroid parathyroid cancer is a serious diagnostic challenge for a wide range of specialists.

Learning points

  • Parathyroid cancer is a rare disease that may be asymptomatic.

  • Intrathyroidal localization of parathyroid carcinoma is casuistic and challenging for diagnosis, and the treatment strategy is not well defined.

  • Preoperative parathyroid hormone and serum calcium testing are recommended for patients with solid thyroid nodules (Bethesda IV–V).

Open access
Chelsea Tan Bendigo Health, Victoria, Australia

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Jessica Triay Bendigo Health, Victoria, Australia

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Summary

A 64-year-old man with progressive metastatic castrate-resistant prostate adenocarcinoma presented with recurrent fluid overload, severe hypokalaemia with metabolic alkalosis and loss of glycaemic control. Clinical features were facial plethora, skin bruising and proximal myopathy. Plasma adrenocorticotrophic hormone (ACTH), serum cortisol and 24-h urinary cortisol levels were elevated. Low-dose dexamethasone failed to suppress cortisol. Pituitary MRI was normal and 68Gallium-DOTATATE PET–CT scan showed only features of metastatic prostate cancer. He was diagnosed with ectopic ACTH syndrome secondary to treatment-related neuroendocrine prostate cancer differentiation. Medical management was limited by clinical deterioration, accessibility of medications and cancer progression. Ketoconazole and cabergoline were utilised, but cortisol remained uncontrolled. He succumbed 5 months following diagnosis. Treatment-related neuroendocrine differentiation of prostate adenocarcinoma is a rare cause of ectopic ACTH syndrome.

Learning points

  • Neuroendocrine differentiation following prostate adenocarcinoma treatment with androgen deprivation has been described.

  • Ectopic adrenocorticotrophic hormone (ACTH) syndrome should be considered where patients with metastatic prostate cancer develop acute electrolyte disturbance or fluid overload.

  • Ketoconazole interferes with adrenal and gonadal steroidogenesis and can be used in ectopic ACTH syndrome, but the impact may be insufficient. Inhibition of gonadal steroidogenesis is favourable in prostate cancer.

  • More data are required to evaluate the use of cabergoline in ectopic ACTH syndrome.

  • Ectopic ACTH syndrome requires prompt management and is challenging in the face of metastatic cancer.

Open access
Clara Cunha Department of Endocrinology, Hospital Egas Moniz, Lisbon, Portugal

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Filipa Mousinho Department of Haematology, Hospital São Francisco Xavier, Lisbon, Portugal

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Catarina Saraiva Department of Endocrinology, Hospital Egas Moniz, Lisbon, Portugal

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João Sequeira Duarte Department of Endocrinology, Hospital Egas Moniz, Lisbon, Portugal

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Summary

Primary thyroid lymphoma (PTL) is a rare malignancy, accounting for less than 5% of all thyroid neoplasms. The follicular subtype is even more rare, accounting for approximately 10% of all PTL cases. We report a case of a 64-year-old woman, who presented with a rapidly growing goitre with mass effect and B symptoms. She had a history of Hashimoto’s thyroiditis and her thyroid ultrasound revealed diffuse goitre with a dominant nodule (56 × 63 × 60 mm) within the right thyroid lobe. Ultrasound-guided percutaneous fine-needle aspiration of the right thyroid nodule was classified as benign, according to Bethesda System, with lymphocytic thyroiditis. A CT scan of the neck showed diffuse enlargement of the thyroid gland extending towards the anterior mediastinum with tracheal deviation and lymphadenopathy within levels VII and right II–IV. The core needle biopsy of the right thyroid nodule revealed a follicular non-Hodgkin’s B cell lymphoma with a Ki67 of 60%. According to the Ann Arbor staging system, she was at stage IIIE. She underwent chemotherapy with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone) with remarkable clinical improvement and is currently in remission 2 years after the diagnosis. PTL is an extremely rare malignancy that usually arises in a lymphocytic thyroiditis background, presenting as a rapidly enlarging goitre, which can lead to compressive symptoms or airway comprise.

Learning points

  • Primary thyroid lymphoma (PTL) is a rare malignancy, accounting for less than 5% of thyroid neoplasms.

  • PTL should be suspected when a patient presents with a rapidly enlarging goitre, especially in the setting of Hashimoto’s thyroiditis.

  • Fine-needle aspiration has a limited capacity for PTL diagnosis due to similar cytomorphological features of lymphoma with thyroiditis. Therefore, in case of clinical suspicion and if fine needle aspiration fails to diagnose PTL, a tissue biopsy should be performed.

  • Treatment is dependent on both the stage and histology of PTL. Chemotherapy and local radiotherapy remain the mainstay treatment for PTL.

Open access