Related Disciplines > Oncology

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Jean Marc Mizzi Mater Dei Hospital of Malta, Department of Medicine, Msida, Malta

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Christopher Rizzo Mater Dei Hospital of Malta, Department of Medicine, Msida, Malta

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Stephen Fava Mater Dei Hospital of Malta, Department of Medicine, Msida, Malta

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Summary

An 82-year-old female was admitted to a general hospital due to progressive bilateral lower limb weakness. A T8–T9 extramedullary meningioma was diagnosed by MRI, and the patient was referred for excision of the tumour. During the patient’s admission, she was noted to have persistent hyperkalaemia which was refractory to treatment. Following a review by an endocrinology team, a diagnosis of pseudohyperkalaemia secondary to thrombocytosis was made. This case demonstrates the importance of promptly identifying patients who are susceptible to pseudohyperkalaemia, in order to prevent its potentially serious consequences.

Learning points

  • Pseudohyperkalaemia should be considered in patients with unexplained or asymptomatic hyperkalaemia. It should also be considered in those patients who are resistant to the classical treatment of hyperkalaemia.

  • A diagnosis of pseudohyperkalaemia is considered when there is a difference of >0.4 mmol/L of potassium between serum and plasma potassium in the absence of symptoms and ECG changes.

  • In patients who are presenting with consistently elevated serum potassium levels, it may be beneficial to take venous blood gas and/ or plasma potassium levels to rule out pseudohyperkalaemia.

  • Pseudohyperkalaemia may subject patients to iatrogenic hypokalaemia which can be potentially fatal.

  • Pseudohyperkalaemia can occur secondary to thrombocytosis, red cell haemolysis due to improper blood letting techniques, leukaemia and lymphoma.

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Celina Caetano Division of Endocrinology and Metabolism and the Endocrine Neoplasia Program of the Neag Cancer Center, UCONN Health, Farmington, Connecticut, USA

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Jennifer Stroop Department of Genetics and Developmental Biology, UCONN Health, Farmington, Connecticut, USA

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Faripour Forouhar Department of Pathology and Laboratory Medicine, UCONN Health, Farmington, Connecticut, USA

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Andrea Orsey Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA
Division of Pediatric Hematology/Oncology, Connecticut Children’s Medical Center, Hartford, Connecticut, USA

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Carl Malchoff Division of Endocrinology and Metabolism and the Endocrine Neoplasia Program of the Neag Cancer Center, UCONN Health, Farmington, Connecticut, USA

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Summary

Familial paraganglioma syndrome type 1 (PGL-1) is maternally imprinted, caused by SDHD mutations on the paternally inherited allele, and presents with paragangliomas and pheochromocytomas that are usually benign. We describe a kindred with a germline c.57delG SDHD mutation that demonstrates an aggressive and possibly expanded phenotype. Eight individuals across four generations were heterozygous for the c.57delG SDHD mutation. The three with known paternal inheritance were clinically affected. The aggressive phenotype was manifested by a neck paraganglioma with distant metastases, and to a lesser degree a neck paraganglioma infiltrating into local connective tissue and a pheochromocytoma presenting at age 8 y. A pulmonary capillary hemangioma may expand the SDHD phenotype. We conclude that the c.57delG SDHD mutation may confer a more aggressive and possibly expanded phenotype than other SDHD mutations.

Learning points:

  • The c.57delG SDHD mutation may confer a more aggressive phenotype than other mutations associated with familial paraganglioma syndrome type 1.

  • A capillary hemangioma, a component of other pseudohypoxia states, was observed in the lung of a single member of the c.57delG SDHD kindred.

  • This report supports the hypothesis of others that mutations found near the beginning of the SDHD open reading frame are more likely to demonstrate an aggressive phenotype.

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Ana M Lopes Endocrinology Department, Centro Hospitalar e Universitário do Porto, EPE, Porto, Portugal

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Josué Pereira Neurosurgery Department, Centro Hospitalar de São João, EPE, Porto, Portugal

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Isabel Ribeiro Neurosurgery Department, Centro Hospitalar e Universitário do Porto, EPE, Porto, Portugal

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Ana Martins da Silva Neurology Department, Centro Hospitalar e Universitário do Porto, EPE, Porto, Portugal
Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Portugal

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Henrique Queiroga Pulmonology Department, Centro Hospitalar de São João, EPE, Porto, Portugal
Faculty of Medicine, Porto University, Porto, Portugal

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Cláudia Amaral Endocrinology Department, Centro Hospitalar e Universitário do Porto, EPE, Porto, Portugal

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Summary

Pituitary metastasis (PM) can be the initial presentation of an otherwise unknown malignancy. As PM has no clinical or radiological pathognomonic features, diagnosis is challenging. The authors describe the case of a symptomatic PM that revealed a primary lung adenocarcinoma. A 62-year-old woman with multiple sclerosis and no history of malignancy, incidentally presented with a diffusely enlarged and homogeneously enhancing pituitary gland associated with stalk enlargement. Clinical and biochemical evaluation revealed anterior hypopituitarism and diabetes insipidus. Hypophysitis was considered the most likely diagnosis. However, rapid visual deterioration and pituitary growth raised the suspicion of metastatic involvement. A search for systemic malignancy was performed, and CT revealed a lung mass, which proved to be a lung adenocarcinoma. Accordingly, the patient was started on immunotherapy. Resection of the pituitary lesion was performed, and histopathology analysis revealed metastatic lung adenocarcinoma. Following surgery, the patient underwent radiotherapy. More than 2 years after PM detection, the patient shows a clinically relevant response to antineoplastic therapy and no evidence of PM recurrence.

Learning points:

  • Although rare, metastatic involvement of the pituitary gland has been reported with increasing frequency during the last decades.

  • Pituitary metastasis can be the initial presentation of an otherwise unknown malignancy and should be considered in the differential diagnosis of pituitary lesions, irrespective of a history of malignancy.

  • The sudden onset and rapid progression of visual or endocrine dysfunction from a pituitary lesion should strongly raise the suspicion of metastatic disease.

  • MRI features of pituitary metastasis can overlap with those of other pituitary lesions, including hypophysitis; however, rapid pituitary growth is highly suggestive of metastatic disease.

  • Survival after pituitary metastasis detection has improved over time, encouraging individualized interventions directed to metastasis to improve quality of life and increase survival.

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Janani Devaraja Sheffield Children’s NHS Foundation Trust, Sheffield, UK

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Sarah Sloan Sheffield Children’s NHS Foundation Trust, Sheffield, UK

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Vicki Lee Department of Paediatric Oncology, Sheffield Children’s NHS Foundation Trust, Sheffield, UK

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Paul Dimitri Department of Paediatric Endocrinology, Sheffield Children’s NHS Foundation Trust, Sheffield, UK

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Summary

An 11-year-old girl presented with acute lower limb weakness, dehydration, hypernatraemia and secondary rhabdomyolysis on a background of an 8-month history of polyuria. Radiological investigations revealed a suprasellar tumour which was diagnosed on biopsy as a non-metastatic germinoma. Further endocrinological investigations confirmed panhypopituitarism and she commenced desmopressin, hydrocortisone and thyroxine. Her chemotherapeutic regime consisted of etoposide, carboplatin and ifosfamide, the latter of which required 4 litres of hyperhydration therapy daily. During the first course of ifosfamide, titration of oral desmopressin was trialled but this resulted in erratic sodium control leading to disorientation. Based on limited literature, we then trialled an arginine-vasopressin (AVP) infusion. A sliding scale was developed to adjust the AVP dose, with an aim to achieve a urine output of 3–4 mL/kg/h. During the second course of ifosamide, AVP infusion was commenced at the outset and tighter control of urine output and sodium levels was achieved. In conclusion, we found that an AVP infusion during hyperhydration therapy was required to achieve eunatraemia in a patient with cranial diabetes insipidus. Developing an AVP sliding scale requires individual variation; further reports/case series are required to underpin practice.

Learning points:

  • Certain chemotherapeutic regimens require large fluid volumes of hyperhydration therapy which can result in significant complications secondary to rapid serum sodium shifts in patients with diabetes insipidus.

  • The use of a continuous AVP infusion and titrating with a sliding scale is more effective than oral desmopressin in regulating plasma sodium and fluid balance during hyperhydration therapy.

  • No adverse effects were found in our patient using a continuous AVP infusion.

  • Adjustment of the AVP infusion rate depends on urine output, fluid balance, plasma sodium levels and sensitivity/response of the child to titrated AVP doses.

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João José Nunes Roque Department of Endocrinology, Hospital de Santa Maria, Lisboa, Portugal

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Irina Borisovna Samokhvalova Alves Department of Pathology, Hospital de Santa Maria, Lisboa, Portugal

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Ana Maria de Almeida Paiva Fernandes Rodrigues Department of Obstetrics & Gynecology, Hospital de Santa Maria, Lisboa, Portugal

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Maria João Bugalho Department of Endocrinology, Hospital de Santa Maria, Lisboa, Portugal
Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal

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Summary

Menopause is a relative hyperandrogenic state but the development of hirsutism or virilizing features should not be regarded as normal. We report the case of a 62-year-old woman with a 9-month history of progressive frontotemporal hair loss and hirsutism, particularly on her back, arms and forearms. Blood tests showed increased total testosterone of 5.20 nmol/L that remained elevated after an overnight dexamethasone suppression test. Free Androgen Index was 13.1 and DHEAS was repeatedly normal. Imaging examinations to study adrenals and ovaries were negative. The biochemical profile and the absence of imaging in favor of an adrenal tumor made us consider the ovarian origin as the most likely hypothesis. After informed consent, bilateral salpingectomy-oophorectomy and total hysterectomy were performed. Gross pathology revealed ovaries of increased volume and histology showed bilateral ovarian stromal hyperplasia. Testosterone levels normalized after surgery and hirsutism had completely subsided 8 months later.

Learning points:

  • Menopause is a relative hyperandrogenic state

  • Hirsutism and/or virilizing features, in a postmenopausal woman, should raise the hypothesis of a malignant cause

  • In the absence of an identifiable ovarian or adrenal tumor, the ovarian origin remains the most likely

  • Peripheral aromatization of excess androgen may conduct to high levels of estrogen increasing the risk of endometrial cancer

  • Bilateral oophorectomy results in significant clinical improvement.

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Aditi Sharma Section of Investigative Medicine, Imperial College London, Hammersmith Hospital, London, UK

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Thilipan Thaventhiran Section of Investigative Medicine, Imperial College London, Hammersmith Hospital, London, UK

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Suzanne Braggins Department of Endocrinology and Diabetes, St Mary’s Hospital, Imperial College Healthcare NHS Trust, London, UK

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Channa N Jayasena Section of Investigative Medicine, Imperial College London, Hammersmith Hospital, London, UK

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Vassiliki Bravis Department of Endocrinology and Diabetes, St Mary’s Hospital, Imperial College Healthcare NHS Trust, London, UK

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Summary

Infection is a common complication of advanced diabetic foot disease, increasing the risk of acute admission and amputation. It is less well-known that foot ulceration and osteomyelitis may cause bacteraemia-associated hematogenous seeding and subsequent epidural abscess formation. Here we describe the case of a 57-year-old woman with known diabetic foot ulcer with underlying osteomyelitis admitted with backpain in the absence of trauma. Her condition deteriorated secondary to overwhelming sepsis. MRI of the spine confirmed spondylodiscitis and posterior epidural collection, not amenable to surgical intervention due to patient’s comorbidities and high surgical risk. Despite prolonged antibiotic therapy, the patient died following a hospital admission lasting 2.5 months. This case highlights the importance of regular contact with diabetes foot service for optimisation and prompt treatment of diabetic foot disease, which can be an underestimated potential source of remote site invasive systemic infection. Secondly, high clinical suspicion in admitting clinicians is imperative in ensuring timely diagnosis and early intervention to minimise fatal consequences.

Learning points:

  • Approximately 10% of patients with diabetes will develop a foot ulcer in their lifetime.

  • Spondylodiscitis (incorporating vertebral osteomyelitis, spondylitis and discitis) is a rare condition and diabetes is the most common predisposing risk factor.

  • Spondylodiscitis often presents with no other symptom other than back pain. Neurological or infective symptoms can be present or absent.

  • High clinical suspicion in clinicians is imperative in ensuring timely diagnosis and early intervention to minimise devastating consequences.

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Michele Fosci Department of Medical Sciences, University of Cagliari, Azienda Universitaria-Ospedaliera of Cagliari, Cagliari, Sardegna, Italy

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Francesca Pigliaru Department of Medical Sciences, University of Cagliari, Azienda Universitaria-Ospedaliera of Cagliari, Cagliari, Sardegna, Italy

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Antonio Stefano Salcuni Department of Medical Sciences, University of Cagliari, Azienda Universitaria-Ospedaliera of Cagliari, Cagliari, Sardegna, Italy

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Massimo Ghiani Department of Medical Oncology, Azienda Ospedaliera Brotzu, Cagliari, Sardegna, Italy

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Maria Valeria Cherchi Department of Radiology, University of Cagliari, Azienda Universitaria-Ospedaliera of Cagliari, Cagliari, Sardegna, Italy

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Maria Antonietta Calia ATS Sardegna, ASL 8, Servizio di Endocrinologia Cagliari, Sardegna, Italy

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Andrea Loviselli Department of Medical Sciences, University of Cagliari, Azienda Universitaria-Ospedaliera of Cagliari, Cagliari, Sardegna, Italy

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Fernanda Velluzzi Department of Medical Sciences, University of Cagliari, Azienda Universitaria-Ospedaliera of Cagliari, Cagliari, Sardegna, Italy

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Summary

A 62-year-old patient with metastatic hypopharyngeal carcinoma underwent treatment with nivolumab, following which he developed symptoms suggestive of diabetes insipidus. Nivolumab was stopped and therapy with methylprednisolone was started. During corticosteroid therapy, the patient presented himself in poor health condition with fungal infection and glycemic decompensation. Methylprednisolone dose was tapered off, leading to the resolution of mycosis and the restoration of glycemic compensation, nevertheless polyuria and polydipsia persisted. Increase in urine osmolarity after desmopressin administration was made diagnosing central diabetes insipidus as a possibility. The neuroradiological data by pituitary MRI scan with gadolinium was compatible with coexistence of metastatic localization and infundibulo-neurohypophysitis secondary to therapy with nivolumab. To define the exact etiology of the pituitary pathology, histological confirmation would have been necessary; however, unfortunately, it was not possible. In the absence of histological confirmation, we believe it is likely that both pathologies coexisted.

Learning points:

  • A remarkable risk of endocrine immune-related adverse events (irAEs) during therapy with checkpoint inhibitors exsists.

  • In order to ensure maximum efficiency in the recognition and treatment of endocrine iRAes related to immune checkpoint inhibitors, multidisciplinary management of oncological patients is critical.

  • The pituitary syndrome in oncological patients who underwent immunotherapy represents a challenge in the differential diagnosis between pituitary metastasis and drug-induced hypophysitis.

  • This is the first case, described in the literature of diabetes insipidus in a patient suffering from nivolumab-induced infundibulo-neurohypophysitis and anterohypophyseal metastasis.

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Anda Mihaela Naciu Unit of Endocrinology and Diabetes, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Martina Verri Unit of Pathology, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Anna Crescenzi Unit of Pathology, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Chiara Taffon Unit of Pathology, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Filippo Longo Unit of Neck and Chest Surgery, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Luca Frasca Unit of Neck and Chest Surgery, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Gaia Tabacco Unit of Endocrinology and Diabetes, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Lavinia Monte Unit of Endocrinology and Diabetes, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Andrea Palermo Unit of Endocrinology and Diabetes, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Pierfilippo Crucitti Unit of Neck and Chest Surgery, Campus Bio-Medico Univerity of Rome, Rome, Italy

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Roberto Cesareo Unit of Metabolic Diseases, ‘S.M. Goretti’ Hospital, Latina, Italy

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Summary

We present the case of a 47-year-old Caucasian previously healthy woman with a voluminous thyroid nodule occupying almost the entire anterior neck region. The lesion had progressively increased in size during the previous 3 months and the patient presented intermittent symptoms of dysphagia and odynophagia with a slight change in voice. Fine needle aspiration showed papillary carcinoma. Based on imaging and cytological findings, the patient underwent total thyroidectomy. The surgical sample revealed a totally enlarged thyroid gland (weight: 208 g) with the presence of a poly-lobulated lesion centrally located and involving the isthmus and both lobes. Hobnail features were present in more than 30% of the neoplastic cells in agreement with the criteria for this subtype. Psammoma bodies and focal necrosis were also present. The extra-thyroidal extension included strap muscles and peri-esophageal glands. Immunohistochemistry using VE1 antibody for detecting BRAF-V600E mutation resulted positive. The final diagnosis was papillary thyroid carcinoma (PTC) hobnail variant (HVPTC)-pT4a. The HVPTC is a rare entity and, in most cases, appears like a unifocal lesion with a maximum tumor size of 8 cm reported so far. To our knowledge, this represents the largest tumor ever described (14 cm), showing rapid growth and with multinodular goiter-like aspect.

Learning points:

  • HVPTC is an aggressive variant of PTC, usually associated with radioactive iodine refractoriness, and a higher mortality rate compared to classic PTC. However, there is a marked individual variability in this association.

  • HVPTC usually appears as small unifocal lesion but a multinodular goiter presentation may occur.

  • The present case highlights that despite of the histology, our patient achieved a high ablation success rate after radioactive iodine therapy.

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Milad Darrat Deparments of Endocrinology, Beaumont Hospital, Dublin, Ireland

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Mohammad Binhussein Deparments of Endocrinology, Beaumont Hospital, Dublin, Ireland

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Alan Beausang Neuropathology, Beaumont Hospital, Dublin, Ireland

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Clare Faul Radiation Oncology, Beaumont Hospital, Dublin, Ireland

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Michael W O’Reilly Deparments of Endocrinology, Beaumont Hospital, Dublin, Ireland

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Mohsen Javadpour Neurosurgery, Beaumont Hospital, Dublin, Ireland
School of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland

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Amar Agha Deparments of Endocrinology, Beaumont Hospital, Dublin, Ireland
School of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland

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Pituitary adenomas are the commonest sellar tumours. Pituitary metastases are very rare, with the most common primaries being breast and lung cancers. We report the case of an 83-year-old man with a history of breast carcinoma who presented with recent-onset headaches and progressive deterioration of visual acuity. MRI brain showed a large sellar and suprasellar mass compressing the optic chiasm and involving the pituitary stalk. Transsphenoidal debulking resulted in symptomatic relief and visual recovery. Specimen examination revealed a combination of a gonadotroph pituitary adenoma that was infiltrated by metastatic breast carcinoma. He had no symptoms of diabetes insipidus. He was subsequently treated with pituitary radiotherapy. This is a very rare presentation of a pituitary mass with mixed pathology. To our knowledge, this is the third description of a breast carcinoma metastasis into a gonadotroph cell pituitary adenoma.

Learning points:

  • Infiltrating metastases into pituitary adenomas are very rare but do occur.

  • To our knowledge this is the third case of breast adenocarcinoma metastasising to a gonadotroph pituitary adenoma.

  • Pituitary metastases should always be considered in rapidly evolving pituitary symptoms in a cancer patient.

  • Not all complex pituitary lesions are associated with panhypopituitarism.

  • Early invasive local management (TSS and post TSS radiotherapy) can provide rapid satisfactory outcomes.

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Viviana Ostrovsky Diabetes, Endocrinology and Metabolic Disease Institute, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Rehovot, Israel

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Barak Bar-Zakai Surgery A Department, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Rehovot, Israel

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Rafael Miller Surgery A Department, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Rehovot, Israel

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Tal Schiller Diabetes, Endocrinology and Metabolic Disease Institute, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Rehovot, Israel

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Alena Kirzhner Diabetes, Endocrinology and Metabolic Disease Institute, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Rehovot, Israel

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Hilla Knobler Diabetes, Endocrinology and Metabolic Disease Institute, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Rehovot, Israel

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Taiba Zornitzki Diabetes, Endocrinology and Metabolic Disease Institute, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Rehovot, Israel

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Summary

Well-differentiated thyroid cancer (WDTC), including papillary, follicular, and Hurthle-cell types, is characterized by a slow course and usually remain localized to the thyroid. However, a minority of these cases develop distant metastases with the most common sites being lungs, bones, and lymph nodes. Liver metastases of WDTC are rare and are usually found along with other distant metastases sites and in a multiple or diffuse pattern of spread. The recognition of distant metastasis in WDTC has a significant impact on the treatment and prognosis. However, because of their low incidence and awareness, distant metastases are often diagnosed late. Herein, we describe a case of a 71 years old woman who during routine surveillance of a follicular variant of papillary thyroid cancer (FV-PTC), 5 years after being treated for her primary thyroid tumor, was found to have a single liver metastasis and underwent liver segmental resection. This case highlights the importance of maintaining vigilant surveillance of patients with WDTC, and illustrates the possibility of unique metastasis at unexpected sites. Further studies are needed to understand the organ tropism of some WDTC leading to distant metastases development and to better prediction of an aggressive course.

Learning points:

  • WDTC patients with distant metastases have a poor prognosis with a 10-year survival of about 50%. The most common sites of distant metastases are lung, bone and lymph nodes.

  • Liver metastases are rare in WDTC, are usually multiple or diffuse and are found along with other distant metastases sites.

  • Single liver metastasis of WDTC is an unexpected pattern of spread, and very few cases are reported in the literature.

  • Rare sites of distant metastases in WDTC can manifest many years after the primary tumor, stressing the importance of maintaining vigilant surveillance.

  • More studies are needed to predict which WDTC tumors may develop a more aggressive course, allowing clinicians to individualize patient management.

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