Browse

You are looking at 1 - 6 of 6 items for :

  • Case Report Type x
  • Gland/Organ x
  • Country of Treatment x
  • Publication Details x
  • Unique/unexpected symptoms or presentations of a disease x
  • Endocrine-related cancer x
Clear All
Evangelos Karvounis Department of Endocrine Surgery, ‘Euroclinic’ Hospital, Athens, Greece

Search for other papers by Evangelos Karvounis in
Google Scholar
PubMed
Close
,
Ioannis Zoupas Department of Endocrine Surgery, ‘Euroclinic’ Hospital, Athens, Greece

Search for other papers by Ioannis Zoupas in
Google Scholar
PubMed
Close
,
Dimitra Bantouna Private Practice, Patras, Greece

Search for other papers by Dimitra Bantouna in
Google Scholar
PubMed
Close
,
Rodis D Paparodis Private Practice, Patras, Greece
Center for Diabetes and Endocrine Research, University of Toledo College of Medicine and Life Sciences, Toledo, Ohio, USA

Search for other papers by Rodis D Paparodis in
Google Scholar
PubMed
Close
,
Roxani Efthymiadou PET-CT Department, Hygeia Hospital, Athens, Greece

Search for other papers by Roxani Efthymiadou in
Google Scholar
PubMed
Close
,
Christina Ioakimidou Department of Pathology

Search for other papers by Christina Ioakimidou in
Google Scholar
PubMed
Close
, and
Christos Panopoulos Department of Medical Oncology, ‘Euroclinic’ Hospital, Athens, Greece

Search for other papers by Christos Panopoulos in
Google Scholar
PubMed
Close

Summary

Large-cell neuroendocrine carcinoma (LCNEC) is a rare neuroendocrine prostatic malignancy. It usually arises after androgen deprivation therapy (ADT), while de novo cases are even more infrequent, with only six cases described. The patient was a 78-year-old man with no history of ADT who presented with cervical lymphadenopathy. Diagnostic approaches included PET/CT, MRI, CT scans, ultrasonography, biopsies, and cytological and immunohistochemical evaluations. Results showed a poorly differentiated carcinoma in the thyroid gland accompanied by cervical lymph node enlargement. Thyroid surgery revealed LCNEC metastasis to the thyroid gland. Additional metastases were identified in both the adrenal glands. Despite appropriate treatment, the patient died of the disease. De novo LCNEC of the prostate is a rare, highly aggressive tumor with a poor prognosis. It is resistant to most therapeutic agents, has a high metastatic potential, and is usually diagnosed at an advanced stage. Further studies are required to characterize this tumor.

Learning points

  • De novo LCNECs of the prostate gland can metastasize almost anywhere in the body, including the thyroid and adrenal glands.

  • LCNECs of the prostate are usually associated with androgen-depriving therapy, but de novo cases are also notable and should be accounted for.

  • Further studies are required to fully understand and treat LCNECs more effectively.

Open access
Jenny S W Yun Department of Surgical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia

Search for other papers by Jenny S W Yun in
Google Scholar
PubMed
Close
,
Chris McCormack Department of Surgical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia

Search for other papers by Chris McCormack in
Google Scholar
PubMed
Close
,
Michelle Goh Department of Surgical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia

Search for other papers by Michelle Goh in
Google Scholar
PubMed
Close
, and
Cherie Chiang Department of Internal Medicine, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia
University of Melbourne, Parkville, Victoria, Australia

Search for other papers by Cherie Chiang in
Google Scholar
PubMed
Close

Summary

Acanthosis nigricans (AN) is a common dermatosis associated with hyperinsulinemia and insulin resistance. However, AN has been rarely reported in patients with insulinoma, a state of persistent hyperinsulinemia. We present a case of metastatic insulinoma, in whom AN manifested after the first cycle of peptide receptor radionuclide therapy (PRRT). A 40-year-old man was diagnosed with metastatic insulinoma after 5 months of symptomatic hypoglycemia. Within 1 month post PRRT, the patient became euglycemic but developed a pigmented, pruritic rash which was confirmed on biopsy as AN. We discuss the rare manifestation of AN in subjects with insulinoma, the role of insulin in the pathogenesis of AN, malignant AN in non-insulin-secreting malignancies and association with other insulin-resistant endocrinopathies such as acromegaly.

Learning points

  • Acanthosis nigricans (AN) is a common dermatosis which is typically asymptomatic and associated with the hyperinsulinemic state.

  • Malignant AN can rapidly spread, cause pruritus and affect mucosa and the oral cavity.

  • AN is extremely rare in patients with insulinoma despite marked hyperinsulinemia.

  • Peptide receptor radionuclide therapy might have triggered TGF-α secretion in this subject which led to malignant AN.

  • Rapid spread or unusual distribution of pruritic AN warrants further investigation to exclude underlying malignancy.

Open access
Vinaya Srirangam Nadhamuni Department of Endocrinology, Barts and the London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK

Search for other papers by Vinaya Srirangam Nadhamuni in
Google Scholar
PubMed
Close
,
Donato Iacovazzo Department of Endocrinology, Barts and the London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK

Search for other papers by Donato Iacovazzo in
Google Scholar
PubMed
Close
,
Jane Evanson St. Bartholomew’s Hospital, Barts and the London NHS Trust, London, UK

Search for other papers by Jane Evanson in
Google Scholar
PubMed
Close
,
Anju Sahdev St. Bartholomew’s Hospital, Barts and the London NHS Trust, London, UK

Search for other papers by Anju Sahdev in
Google Scholar
PubMed
Close
,
Jacqueline Trouillas Department of Pathology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France

Search for other papers by Jacqueline Trouillas in
Google Scholar
PubMed
Close
,
Lorraine McAndrew St. Bartholomew’s Hospital, Barts and the London NHS Trust, London, UK

Search for other papers by Lorraine McAndrew in
Google Scholar
PubMed
Close
,
Tom R Kurzawinski Division of Endocrine Surgery, University College Hospital, London, UK

Search for other papers by Tom R Kurzawinski in
Google Scholar
PubMed
Close
,
David Bryant Sunderland Royal Hospital, South Tyneside and Sunderland NHS Foundation Trust, South Shields, Tyne and Wear, UK

Search for other papers by David Bryant in
Google Scholar
PubMed
Close
,
Khalid Hussain Division of Endocrinology, Sidra Medicine, Doha, Ad Dawhah, Qatar

Search for other papers by Khalid Hussain in
Google Scholar
PubMed
Close
,
Satya Bhattacharya St. Bartholomew’s Hospital, Barts and the London NHS Trust, London, UK

Search for other papers by Satya Bhattacharya in
Google Scholar
PubMed
Close
, and
Márta Korbonits Department of Endocrinology, Barts and the London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK

Search for other papers by Márta Korbonits in
Google Scholar
PubMed
Close

Summary

A male patient with a germline mutation in MEN1 presented at the age of 18 with classical features of gigantism. Previously, he had undergone resection of an insulin-secreting pancreatic neuroendocrine tumour (pNET) at the age of 10 years and had subtotal parathyroidectomy due to primary hyperparathyroidism at the age of 15 years. He was found to have significantly elevated serum IGF-1, GH, GHRH and calcitonin levels. Pituitary MRI showed an overall bulky gland with a 3 mm hypoechoic area. Abdominal MRI showed a 27 mm mass in the head of the pancreas and a 6 mm lesion in the tail. Lanreotide-Autogel 120 mg/month reduced GHRH by 45% and IGF-1 by 20%. Following pancreaticoduodenectomy, four NETs were identified with positive GHRH and calcitonin staining and Ki-67 index of 2% in the largest lesion. The pancreas tail lesion was not removed. Post-operatively, GHRH and calcitonin levels were undetectable, IGF-1 levels normalised and GH suppressed normally on glucose challenge. Post-operative fasting glucose and HbA1c levels have remained normal at the last check-up. While adolescent-onset cases of GHRH-secreting pNETs have been described, to the best of our knowledge, this is the first reported case of ectopic GHRH in a paediatric setting leading to gigantism in a patient with MEN1. Our case highlights the importance of distinguishing between pituitary and ectopic causes of gigantism, especially in the setting of MEN1, where paediatric somatotroph adenomas causing gigantism are extremely rare.

Learning points

  • It is important to diagnose gigantism and its underlying cause (pituitary vs ectopic) early in order to prevent further growth and avoid unnecessary pituitary surgery. The most common primary tumour sites in ectopic acromegaly include the lung (53%) and the pancreas (34%) (1): 76% of patients with a pNET secreting GHRH showed a MEN1 mutation (1).

  • Plasma GHRH testing is readily available in international laboratories and can be a useful diagnostic tool in distinguishing between pituitary acromegaly mediated by GH and ectopic acromegaly mediated by GHRH. Positive GHRH immunostaining in the NET tissue confirms the diagnosis.

  • Distinguishing between pituitary (somatotroph) hyperplasia secondary to ectopic GHRH and pituitary adenoma is difficult and requires specialist neuroradiology input and consideration, especially in the MEN1 setting. It is important to note that the vast majority of GHRH-secreting tumours (lung, pancreas, phaeochromocytoma) are expected to be visible on cross-sectional imaging (median diameter 55 mm) (1). Therefore, we suggest that a chest X-ray and an abdominal ultrasound checking the adrenal glands and the pancreas should be included in the routine work-up of newly diagnosed acromegaly patients.

Open access
Ziadoon Faisal Department of General Medicine, Royal Victoria Infirmary, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK

Search for other papers by Ziadoon Faisal in
Google Scholar
PubMed
Close
and
Miguel Debono Department of Diabetes and Endocrinology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK

Search for other papers by Miguel Debono in
Google Scholar
PubMed
Close

Summary

In this case report, we describe the management of a patient who was admitted with an ectopic ACTH syndrome during the COVID pandemic with new-onset type 2 diabetes, neutrophilia and unexplained hypokalaemia. These three findings when combined should alert physicians to the potential presence of Cushing’s syndrome (CS). On admission, a quick diagnosis of CS was made based on clinical and biochemical features and the patient was treated urgently using high dose oral metyrapone thus allowing delays in surgery and rapidly improving the patient’s clinical condition. This resulted in the treatment of hyperglycaemia, hypokalaemia and hypertension reducing cardiovascular risk and likely risk for infection. Observing COVID-19 pandemic international guidelines to treat patients with CS has shown to be effective and offers endocrinologists an option to manage these patients adequately in difficult times.

Learning points

  • This case report highlights the importance of having a low threshold for suspicion and investigation for Cushing’s syndrome in a patient with neutrophilia and hypokalaemia, recently diagnosed with type 2 diabetes especially in someone with catabolic features of the disease irrespective of losing weight.

  • It also supports the use of alternative methods of approaching the diagnosis and treatment of Cushing’s syndrome during a pandemic as indicated by international protocols designed specifically for managing this condition during Covid-19.

Open access
Sarah Y Qian Department of Endocrinology and Diabetes, The Alfred Hospital, Melbourne, Australia

Search for other papers by Sarah Y Qian in
Google Scholar
PubMed
Close
,
Matthew J L Hare Department of Endocrinology and Diabetes, The Alfred Hospital, Melbourne, Australia

Search for other papers by Matthew J L Hare in
Google Scholar
PubMed
Close
,
Alan Pham Department of Anatomical Pathology, The Alfred Hospital, Melbourne, Australia

Search for other papers by Alan Pham in
Google Scholar
PubMed
Close
, and
Duncan J Topliss Department of Endocrinology and Diabetes, The Alfred Hospital, Melbourne, Australia
Department of Medicine, Monash University, Melbourne, Australia

Search for other papers by Duncan J Topliss in
Google Scholar
PubMed
Close

Summary

Insulinomas are rare neuroendocrine tumours that classically present with fasting hypoglycaemia. This case report discusses an uncommon and challenging case of insulinoma soon after upper gastrointestinal surgery. A 63-year-old man presented with 6 months of post-prandial hypoglycaemia beginning after a laparoscopic revision of Toupet fundoplication. Hyperinsulinaemic hypoglycaemia was confirmed during a spontaneous episode and in a mixed-meal test. Localisation studies including magnetic resonance imaging (MRI), endoscopic ultrasound (EUS) and gallium dotatate positron emission tomography (68Ga Dotatate PET) were consistent with a small insulinoma in the mid-body of the pancreas. The lesion was excised and histopathology was confirmed a localised well-differentiated neuroendocrine pancreatic neoplasm. There have been no significant episodes of hypoglycaemia since. This case highlights several key points. Insulinoma should be sought in proven post-prandial hyperinsulinaemic hypoglycaemia – even in the absence of fasting hypoglycaemia. The use of nuclear imaging targeting somatostatin and GLP1 receptors has improved accuracy of localisation. Despite these advances, accurate surgical resection can remain challenging.

Learning points:

  • Hypoglycaemia is defined by Whipple’s triad and can be provoked by fasting or mixed-meal tests.

  • Although uncommon, insulinomas can present with post-prandial hypoglycaemia.

  • In hypoglycaemia following gastrointestinal surgery (i.e. bariatric surgery or less commonly Nissen fundoplication) dumping syndrome or non-insulinoma pancreatogenous hypoglycaemia syndrome (NIPHS) should be considered.

  • Improved imaging techniques including MRI, endoscopic ultrasound and functional nuclear medicine scans aid localisation of insulinomas.

  • Despite advances in imaging and surgical techniques, accurate resection of insulinomas remains challenging.

Open access
Rowena Speak Departments of Oncology and Metabolism, University of Sheffield

Search for other papers by Rowena Speak in
Google Scholar
PubMed
Close
,
Jackie Cook Department of Genetics, Sheffield Children’s Hospital, Sheffield, UK

Search for other papers by Jackie Cook in
Google Scholar
PubMed
Close
,
Barney Harrison Endocrine Surgery, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK

Search for other papers by Barney Harrison in
Google Scholar
PubMed
Close
, and
John Newell-Price Departments of Oncology and Metabolism, University of Sheffield
Endocrinology

Search for other papers by John Newell-Price in
Google Scholar
PubMed
Close

Mutations of the rearranged during transfection (RET) proto-oncogene, located on chromosome 10q11.2, cause multiple endocrine neoplasia type 2A (MEN2A). Patients with mutations at the codon 609 usually exhibit a high penetrance of medullary thyroid cancer (MTC), but a sufficiently low penetrance of phaeochromocytoma that screening for this latter complication has been called to question. Patients with other RET mutations are at higher risk of younger age onset phaeochromocytoma if they also possess other RET polymorphisms (L769L, S836S, G691S and S904S), but there are no similar data for patients with 609 mutations. We investigated the unusual phenotypic presentation in a family with MEN2A due to a C609Y mutation in RET. Sanger sequencing of the entire RET-coding region and exon–intron boundaries was performed. Five family members were C609Y mutation positive: 3/5 initially presented with phaeochromocytoma, but only 1/5 had MTC. The index case aged 73 years had no evidence of MTC, but presented with phaeochromocytoma. Family members also possessed the G691S and S904S RET polymorphisms. We illustrate a high penetrance of phaeochromocytoma and low penetrance of MTC in patients with a RET C609Y mutation and polymorphisms G691S and S904S. These data highlight the need for life-long screening for the complications of MEN2A in these patients and support the role for the screening of RET polymorphisms for the purposes of risk stratification.

Learning points:

  • C609Y RET mutations may be associated with a life-long risk of phaeochromocytoma indicating the importance of life-long screening for this condition in patients with MEN2A.

  • C609Y RET mutations may be associated with a lower risk of MTC than often quoted, questioning the need for early prophylactic thyroid surgery discussion at the age of 5 years.

  • There may be a role for the routine screening of RET polymorphisms, and this is greatly facilitated by the increasing ease of access to next-generation sequencing.

Open access