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Open access

Silent intrathyroid parathyroid carcinoma

Ekaterina Kim, Ekaterina Bondarenko, Anna Eremkina, Petr Nikiforovich, and Natalia Mokrysheva

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).

DOI:
https://doi.org/10.1530/EDM-23-0027
Volume 2023: Issue 2
Open access

De novo purely prostatic large-cell neuroendocrine carcinoma with thyroid and adrenal metastases

Evangelos Karvounis, Ioannis Zoupas, Dimitra Bantouna, Rodis D Paparodis, Roxani Efthymiadou, Christina Ioakimidou, and Christos Panopoulos

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.

DOI:
https://doi.org/10.1530/EDM-22-0301
Volume 2022: Issue 1
Open access

Papillary follicular variant thyroid cancer in a malignant struma ovarii: a report of a rare case

Omayma Elshafie, Samir Hussein, Moza Al Kalbani, Aisha Al Hamadani, Abir Bou Khalil, and Nicholas Woodhouse

Summary

A 33-year-old female presented in 2013 with left flank pain. Ultrasound and MRI pelvis showed a complex mass 9 × 7 cm arising from the left ovary suggestive of ovarian torsion. She underwent a laparoscopic cystectomy, but the patient was lost to follow-up. Three years later, she presented with abdominal distension. Ultrasound and CT scan revealed a solid left ovarian mass with ascites and multiple peritoneal metastasis. Investigations showed elevated CA 125, CA 19-9. Ovarian malignancy was suspected. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy on November 2016. The histopathology confirmed a well-differentiated thyroid cancer of ovarian origin with features of a papillary follicular variant without evidence of ovarian cancer and the thyroglobulin (Tg) level was elevated, more than 400 consistent with the diagnosis of malignant struma ovarii. The follow-up post-surgery showed normalization of CA 125, CA 19-9 and Tg. The patient underwent total thyroidectomy on January 2017. The histology was benign excluding thyroid cancer metastases to the ovary. She was started on thyroxine suppression, following which she received two ablation doses 131iodine (131I) each 5.3 GBq. The Tg remains slightly elevated at less than 10. 131I WBS showed no residual neck uptake and no distant avid metastasis. She was planned for molecular analysis which may indicate disease severity. We describe a case of malignant struma ovarii with widespread metastatic dissemination and a good response to surgery and 131I treatment without recurrence after 5 years of follow-up. The Tg remains slightly elevated indicating minimal stable residual disease.

Learning points

  • Malignant struma ovarii is a rare disease; diagnosis is difficult and management is not well defined.

  • Presentation may mimic advanced carcinoma of the ovary.

  • Predominant sites of metastasis are adjacent pelvic structures.

  • Thyroidectomy and 131iodine therapy should be considered. The management should be similar to that of metastatic thyroid cancer.

DOI:
https://doi.org/10.1530/EDM-21-0169
Volume 2022: Issue 1
Open access

Metastatic mixed VIPoma/PPoma-induced diarrhoea causing renal failure

George Brown, Anthony Mark Monaghan, Richard Fristedt, Emma Ramsey, Ma’en Al-Mrayat, Rushda Rajak, Thomas Armstrong, and Arjun Takhar

Summary

Vasoactive intestinal peptide-secreting tumours (VIPomas) are an extremely rare form of functional pancreatic neuroendocrine tumour with an estimated annual incidence of 1 in 10 million. Associated tumour hypersecretion of other peptides, including pancreatic polypeptide (PPomas), may also be seen. These malignancies classically present with a defined triad of refractory diarrhoea, hypokalaemia and metabolic acidosis known as Verner–Morrison syndrome. Diagnosis is frequently delayed, and the majority of patients will have metastatic disease at presentation. Symptoms are usually well controlled with somatostatin analogue administration. Here we report a case of metastatic mixed VIPoma/PPoma-induced diarrhoea causing renal failure so severe that ultrafiltration was required to recover adequate renal function.

Learning points

  • Profuse, watery diarrhoea is a common presenting complaint with a multitude of aetiologies. This, combined with the rarity of these tumours, makes diagnosis difficult and frequently delayed. A functional neuroendocrine tumour should be suspected when diarrhoea is unusually extreme, prolonged and common causes have been promptly excluded.

  • These patients are likely to be profoundly unwell on presentation. They are extremely hypovolaemic with dangerous electrolyte and metabolic abnormalities. Aggressive initial rehydration and electrolyte replacement are imperative. A somatostatin analogue should be commenced as soon as the diagnosis is suspected.

  • This is an extreme example of Verner–Morrison syndrome. We are unaware of another case where renal failure secondary to diarrhoea and dehydration was so severe that renal replacement therapy was required to restore adequate renal function, further emphasising how critically unwell these patients can be.

  • Both the primary tumour and metastases showed a remarkably good and rapid response to somatostatin analogue administration. Cystic change and involution were noted on repeat imaging within days.

  • Prior to his illness, this patient was extremely high functioning with no medical history. His diagnosis was an enormous psychological shock, and the consideration and care for his psychological well-being were a crucial part of his overall management. It highlights the importance of a holistic approach to cancer care and the role of the clinical nurse specialist within the cancer multidisciplinary team.

DOI:
https://doi.org/10.1530/EDM-22-0231
Volume 2022: Issue 1
Open access

Acanthosis nigricans in a patient with metastatic insulinoma post peptide receptor radionuclide therapy

Jenny S W Yun, Chris McCormack, Michelle Goh, and Cherie Chiang

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.

DOI:
https://doi.org/10.1530/EDM-21-0150
Volume 2022: Issue 1
Open access

An incidental finding behind adrenal incidentaloma

Filippo Crimì, Giulio Barbiero, Irene Tizianel, Laura Evangelista, and Filippo Ceccato

Summary

A 61-year-old man went to the Emergency Department with left upper abdominal quadrant pain and low-grade fever, as well as a loss of weight (3 kg in 6 weeks). A solid-cystic lesion in the left adrenal lodge was discovered by abdominal ultrasonography. A slight increase in the serum amylase with normal lipase was observed, but there were no signs or symptoms of pancreatitis. A contrast-enhanced CT revealed a tumor that was suspected of adrenocortical cancer. Therefore, he was referred to the endocrine unit. The hormonal evaluation revealed no signs of excessive or inadequate adrenal secretion. To characterize the mass, an MRI was performed; the lesion showed an inhomogeneous fluid collection with peripheral wall contrast-enhancement, as well as a minor 18-fluorodeoxyglucose uptake at PET/CT images. The risk of primary adrenal cancer was minimal after the multidisciplinary discussion. An acute necrotic collection after focal pancreatitis was suspected, according to the characteristics of imaging. Both CT-guided drainage of the necrotic accumulation and laboratory analysis of the aspirated fluid confirmed the diagnosis.

Learning points

  • Different types of expansive processes can mimic adrenal incidentalomas.

  • Necrotic collection after acute focal pancreatitis could be misdiagnosed as an adrenal mass, since its CT characteristics could be equivocal.

  • MRI has stronger capacities than CT in differentiating complex lesions of the adrenal lodge.

  • A multidisciplinary approach is fundamental in the management of patients with a newly discovered adrenal incidentaloma and equivocal/suspicious imaging features (low lipid content and size >4 cm).

DOI:
https://doi.org/10.1530/EDM-22-0255
Volume 2022: Issue 1
Open access

Insulinoma in an adolescent female with weight loss: a case report and literature review on pediatric insulinomas

Pranav Gupta, Karen Loechner, Briana C Patterson, and Eric Felner

Summary

Insulinomas are a rare cause of persistent hypoglycemia in a previously healthy child. In addition to symptoms of hypoglycemia, individuals with insulinomas usually present with a history of incessant caloric intake and weight gain due to a constant need to counter hypoglycemia. In addition to an extensive review of the literature, we report the first case of an insulinoma coexisting with reduced appetite secondary to anorexia nervosa in an adolescent female.

Learning points

  • Eliciting a detailed family history is important in hypoglycemia cases.

  • Obtaining a thorough dietary intake, weight history, and menstrual cycles (in females) and considering a psychiatric consultation for an eating disorder when indicated.

  • Although rare in the pediatric population, multiple endocrine neoplasia type 1 syndrome should be considered in the evaluation of children and adolescents with hypoglycemia who also have a family history of pituitary, pancreatic, and/or parathyroid endocrinopathies.

DOI:
https://doi.org/10.1530/EDM-21-0206
Volume 2022: Issue 1
Open access

Juxtaglomerular cell tumour of the kidney: a rare cause of resistant hypertension

Nikitas S Skarakis, Irene Papadimitriou, Labrini Papanastasiou, Sofia Pappa, Anastasia Dimitriadi, Ioannis Glykas, Konstantinos Ntoumas, Penelope Lampropoulou, and Theodora Kounadi

Summary

Juxtaglomerular cell tumour (JGCT) is an unusually encountered clinical entity. A 33-year-old man with severe long-standing hypertension and hypokalaemia is described. The patient also suffered from polyuria, polydipsia, nocturia and severe headaches. On admission, laboratory investigation revealed hypokalaemia, kaliuresis, high aldosterone and renin levels, and the abdomen CT identified a mass of 4 cm at the right kidney. Kidney function was normal. Following nephrectomy, the histological investigation revealed the presence of a JGCT. Immunostaining was positive for CD34 as well as for smooth muscle actin and vimentin. Following surgery, a marked control of his hypertension with calcium channel blockers and normalization of the serum potassium, renin or aldosterone levels were reached. According to our findings, JGCT could be included in the differential diagnosis of secondary hypertension as it consists of a curable cause. The association of JGCT with hypertension and hypokalaemia focusing on the clinical presentation, diagnostic evaluation and management is herein discussed and a brief review of the existing literature is provided.

Learning points

  • Juxtaglomerular cell tumours (JGCT), despite their rarity, should be included in the differential diagnosis of secondary hypertension as they consist of a curable cause of hypertension.

  • JGCT could be presented with resistant hypertension along with hypokalaemia, kaliuresis and metabolic alkalosis. Early recognition and management can help to prevent cardiovascular complications.

  • Imaging (enhanced CT scans) may be considered as the primary diagnostic tool for the detection of renal or JGCT.

  • For the confirmation of the diagnosis, a histopathologic examination is needed.

DOI:
https://doi.org/10.1530/EDM-21-0042
Volume 2022: Issue 1
Open access

Unusual hypocalcaemia in breast cancer relapse with multiple bone metastasis

Said Darawshi, Mahmoud Darawshi, and Deeb Daoud Naccache

Severe hypocalcaemia in breast cancer with bone metastasis is a rare finding usually associated with an advanced stage of the disease. We report a case of a 45-year-old woman with a history of local ductal carcinoma in situ (DCIS) of the breast, who presented with muscle tremors and general weakness. Hypocalcaemia was evident, with a positive Chvostek sign and a serum calcium level of 5.9 mg/dL (1.47 mmol/L), phosphorus 5.9 mg/dL (normal range: 2.3–4.7 mg/dL) with normal levels of albumin, magnesium and parathyroid hormone. High oral doses of alpha calcitriol and calcium with i.v. infusion of high calcium doses were instituted, altogether sufficient to maintain only mild hypocalcaemia. A whole-body CT revealed bone lesions along the axial skeleton. A biopsy from a bone lesion revealed a metastasis of breast carcinoma. With this pathological finding, leuprolide (GNRH analogue) and chlorambucil (alkylating agent) were initiated, followed by prompt tapering of infused calcium down to full discontinuation. Serum calcium was kept stable close to the low normal range by high doses of oral alpha calcitriol and calcium. This course raises suspicion that breast metastases to the skeleton caused tumour-induced hypocalcaemia by a unique mechanism. We assume that hypocalcaemia in this case was promoted by a combination of hypoparathyroidism and bone metastasis.

Learning points

  • Severe hypocalcaemia can a presenting symptom for breast cancer relapse.

DOI:
https://doi.org/10.1530/EDM-20-0222
Volume 2022: Issue 1
Open access

First-generation somatostatin ligand receptor treatment in a pregnant patient with a neuroendocrine tumor with liver metastases

Nynne Emilie Hummelshøj, Gitte Dam, Lars Henning Pedersen, Astrid Hjelholt, and Gerda Elisabeth Villadsen

Summary

This rare case describes the course of a pregnancy in a patient with a disseminated small intestinal neuroendocrine tumor. The patient received treatment with first-generation somatostatin ligand receptor (SLR) every 4 weeks and had stable disease for several years before her pregnancy. First-generation SLR treatment was initially paused after detection of the pregnancy. During pregnancy, the patient experienced moderate gastro-intestinal discomfort and fatigue, which was considered predominantly pregnancy related. However, since symptoms could be linked to the patient’s cancer, treatment was resumed after the first trimester. Chromogranin-A measurements remained stable throughout pregnancy and was paralleled by the absence of diarrhea and only minor flushing. She gave birth by elective caesarean section in week 37 to a healthy baby. Subsequent follow up imaging immediately after and 10 months postpartum showed no disease progression. The safety profile of SLR treatment during pregnancy in the context of disseminated neuroendocrine tumors (NET) is discussed.

Learning points

  • Neuroendocrine neoplasms (NEN) are rare cancers often occurring in the gastro-intestinal tract or lungs.

  • Many patients with NEN live for several years with disseminated disease.

  • SLR treatment has been given to pregnant patients before; often patients with acromegaly. Pregnancies are reported uneventful.

  • This patient completed an uneventful pregnancy while receiving SLR treatment for disseminated neuroendocrine disease and gave birth to a healthy baby.

  • More research regarding long term effects and safety signals of SLR treatment during pregnancy are much needed.

DOI:
https://doi.org/10.1530/EDM-21-0126
Volume 2021: Issue 1