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J Pedro Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Faculty of Medicine of Universidade do Porto, Porto, Portugal

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F M Cunha Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal

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V Neto Department of Pneumology, Centro Hospitalar Universitário de São João, Porto, Portugal

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V Hespanhol Faculty of Medicine of Universidade do Porto, Porto, Portugal
Department of Pneumology, Centro Hospitalar Universitário de São João, Porto, Portugal
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

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D F Martins Faculty of Medicine of Universidade do Porto, Porto, Portugal
Department of Pathology, Centro Hospitalar Universitário de São João, Porto, Portugal

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S Guimarães Department of Pathology, Centro Hospitalar Universitário de São João, Porto, Portugal

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A Varela Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Faculty of Medicine of Universidade do Porto, Porto, Portugal
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

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D Carvalho Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Faculty of Medicine of Universidade do Porto, Porto, Portugal
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

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Summary

We describe the case of a 56 year-old woman with the almost simultaneous appearance of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) and a carotid body paraganglioma. Of interest, 6 years earlier, the patient underwent total thyroidectomy due to papillary thyroid carcinoma and, in the meantime, she was submitted to mastectomy to treat an invasive ductal carcinoma of the breast. In order to explain these lesions, an extensive genetic study was performed. Results showed positivity for the presence of the tumor suppressor gene PALB2, whose presence had already been detected in a niece with breast cancer. The patient underwent different procedures to treat the lesions and currently she is symptom-free over 2 years of follow-up.

Learning points:

  • The presence of two rare neoplasms in a single person should raise the suspicion of a common etiology.

  • To the best of our knowledge, this is the first case that shows the coexistence of DIPNECH and paraganglioma.

  • The contribution of the PALB2 gene in the etiology of these rare neoplasms is a possibility.

Open access
Gemma White Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK

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Nicola Tufton Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK

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Scott A Akker Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK

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Summary

At least 40% of phaeochromocytomas and paraganglioma’s (PPGLs) are associated with an underlying genetic mutation. The understanding of the genetic landscape of these tumours has rapidly evolved, with 18 associated genes now identified. Among these, mutations in the subunits of succinate dehydrogenase complex (SDH) are the most common, causing around half of familial PPGL cases. Occurrence of PPGLs in carriers of SDHB, SDHC and SDHD subunit mutations has been long reported, but it is only recently that variants in the SDHA subunit have been linked to PPGL formation. Previously documented cases have, to our knowledge, only been found in isolated cases where pathogenic SDHA variants were identified retrospectively. We report the case of an asymptomatic suspected carotid body tumour found during surveillance screening in a 72-year-old female who is a known carrier of a germline SDHA pathogenic variant. To our knowledge, this is the first screen that detected PPGL found in a previously identified SDHA pathogenic variant carrier, during surveillance imaging. This finding supports the use of cascade genetic testing and surveillance screening in all carriers of a pathogenic SDHA variant.

Learning points:

  • SDH mutations are important causes of PPGL disease.

  • SDHA is much rarer compared to SDHB and SDHD mutations.

  • Pathogenicity and penetrance are yet to be fully determined in cases of SDHA-related PPGL.

  • Surveillance screening should be used for SDHA PPGL cases to identify recurrence, metastasis or metachronous disease.

  • Surveillance screening for SDH-related disease should be performed in identified carriers of a pathogenic SDHA variant.

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Ana Gonçalves Ferreira Endocrinology and Diabetes Department, Garcia de Orta Hospital, Almada, Portugal

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Tiago Nunes da Silva Endocrinology Department, Portuguese Institute of Oncology Francisco Gentil, Lisbon, Portugal

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Sofia Alegria Cardiology Department, Garcia de Orta Hospital, Almada, Portugal

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Maria Carlos Cordeiro Endocrinology and Diabetes Department, Garcia de Orta Hospital, Almada, Portugal

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Jorge Portugal Endocrinology and Diabetes Department, Garcia de Orta Hospital, Almada, Portugal

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Summary

Pheochromocytoma/paraganglioma (PPGL) are neuroendocrine tumors that can secrete catecholamines. The authors describe a challenging case who presented as stress cardiomyopathy and myocardial infarction (MI). A 76-year-old man, with a medical history of Parkinson’s disease, type 2 diabetes mellitus, hypertension, dyslipidaemia and a previous inferior MI in 2001, presented to the emergency department due to chest pain, headaches and vomiting. He also reported worsening blood glucose levels and increasing constipation over the preceding weeks. BP was 185/89 mmHg (no other relevant findings). EKG had ST segment depression in leads V2-V6, T troponin was 600 ng/L (<14) and the echocardiogram showed left ventricular hypokinesia with mildly compromised systolic function. Nevertheless, he rapidly progressed to severe biventricular dysfunction. Coronary angiogram showed a 90% anterior descendent coronary artery occlusion (already present in 2001), which was treated with angioplasty/stenting. In the following days, a very labile BP profile and unexplained sinus tachycardia episodes were observed. Because of sustained severe constipation, the patient underwent an abdominal CT that revealed a retroperitoneal, heterogeneous, hypervascular mass on the right (62 × 35 mm), most likely a paraganglioma. Urinary metanephrines were increased several fold. 68Ga-DOTANOC PET-CT scan showed increased uptake in the abdominal mass (no evidence of disease elsewhere). He was started on a calcium-channel blocker and alpha blockade and underwent surgery with no major complications. Eight months after surgery, the patient has no evidence of disease. Genetic testing was negative for known germline mutations. This was a challenging diagnosis, but it was essential for adequate cardiovascular stabilization and to reduce further morbidity.

Learning points:

  • PPGL frequently produces catecholamines and can manifest with several cardiovascular syndromes, including stress cardiomyopathy and myocardial infarction.

  • Even in the presence of coronary artery disease (CAD), PPGL should be suspected if signs or symptoms attributed to catecholamine excess are present (in this case, high blood pressure, worsening hyperglycaemia and constipation).

  • Establishing the correct diagnosis is important for adequate treatment choice.

  • Inodilators and mechanical support might be preferable options (if available) for cardiovascular stabilization prior to alpha blockade and surgery.

  • Laboratory interference should be suspected irrespective of metanephrine levels, especially in the context of treated Parkinson’s disease.

Open access
Marinos C Makris First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece
First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Konstantinos C Koumarelas First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Apostolos S Mitrousias First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Giannos G Psathas First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Athanasios Mantzioros First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Stratigoula P Sakellariou First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Panagiota Ntailiani First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Evripides Yettimis First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Summary

Until now, less than ten cases of extra-adrenal chromaffin cell tumors have been reported to be localized to the spermatic cord area. All published studies report benign tumors with a diameter <2–3 cm and no invasion of the testis. In this article, we present one case of a giant malignant paraganglioma in the testis of a patient who had initially been operated for a giant mass in the scrotum. The mass developed in approximately 4 months. This is the first study reporting the following findings: i) paraganglioma was found exclusively in the testis, invading the testicle and not the spermatic cord, ii) it was malignant with lung metastasis, and iii) its size was 17.5 cm×10 cm×9.5 cm. We present the first – giant – malignant paraganglioma. Moreover, it is the first case report of a paraganglioma in the testis.

Learning points

  • This is the first study reporting the following findings:

  • Paraganglioma found exclusively in the testis, invading the testicle and not the spermatic cord.

  • It is malignant with lung metastasis.

  • It is of the size 17.5 cm×10 cm×9.5 cm.

Open access
Omayma Elshafie Department of Medicine, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Yahya Al Badaai Department of Surgery, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Khalifa Alwahaibi Department of Surgery, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Asim Qureshi Department of Pathology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Samir Hussein Department of Radiology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Faisal Al Azzri Department of Radiology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Ali Almamari Department of Medicine, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Nicholas Woodhouse Department of Medicine, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Summary

A 48-year-old hypertensive and diabetic patient presented with a 10-year history of progressive right facial pain, tinnitus, hearing loss, sweating, and palpitations. Investigations revealed a 5.6 cm vascular tumor at the carotid bifurcation. Her blood pressure (BP) was 170/110, on lisinopril 20 mg od and amlodipine 10 mg od and 100 U of insulin daily. A catecholamine-secreting carotid body paraganglioma (CSCBP) was suspected; the diagnosis was confirmed biochemically by determining plasma norepinephrine (NE) level, 89 000 pmol/l, and chromogranin A (CgA) level, 279 μg/l. Meta-iodobenzylguanidine and octreotide scanning confirmed a single tumor in the neck. A week after giving the patient a trial of octreotide 100 μg 8 h, the NE level dropped progressively from 50 000 to 25 000 pmol/l and CgA from 279 to 25 μg/l. Treatment was therefore continued with labetalol 200 mg twice daily (bid) and long-acting octreotide-LA initially using 40 mg/month and later increasing to 80 mg/month. On this dose and with a reduced labetalol intake of 100 mg bid, BP was maintained at 130/70 and her symptoms resolved completely. CgA levels returned to normal in the first week and these were maintained throughout the 3 month treatment period. During tumor resection, there were minimal BP fluctuations during the 10 h procedure. We conclude that short-term high-dose octreotide-LA might prove valuable in the preoperative management of catecholamine-secreting tumors. To the best of our knowledge, this is the first report on the successful use of octreotide in a CSCBP.

Learning points

  • The value of octreotide scanning in the localization of extra-adrenal pheochromocytoma.

  • Control of catecholamine secretion using high-dose octreotide.

  • This is a report of a rare cause of secondary diabetes and hypertension.

Open access
F Serra Department of Endocrinology, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal

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S Duarte Department of Endocrinology, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal

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S Abreu Department of Endocrinology, Hospital Central do Funchal, Funchal, Portugal

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C Marques Departments of Neurosurgery

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J Cassis Pathology, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal

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M Saraiva Department of Endocrinology, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal

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Summary

Ectopic secretion of ACTH is an infrequent cause of Cushing's syndrome. We report a case of ectopic ACTH syndrome caused by a nasal paraganglioma, a 68-year-old female with clinical features of Cushing's syndrome, serious hypokalaemia and a right paranasal sinus' lesion. Cranial magnetic resonance image showed a 46-mm mass on the right paranasal sinuses. Endocrinological investigation confirmed the diagnosis of ectopic ACTH production. Resection of the tumour normalised ACTH and cortisol secretion. The tumour was found to be a paraganglioma through microscopic analysis. On follow-up 3 months later, the patient showed nearly complete clinical recovery. Ectopic ACTH syndrome due to nasal paraganglioma is extremely uncommon, as only two other cases have been discussed in the literature.

Learning points

  • Ectopic Cushing's syndrome accounts for 10% of Cushing's syndrome etiologies.

  • Most paraganglioma of the head and neck are not hormonally active.

  • Nasal paraganglioma, especially ACTH producing, is a very rare tumour.

Open access