Diagnosis and Treatment > Investigation > Endoscopy
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Summary
Adrenocortical carcinoma (ACC) is an aggressive cancer that originates in the cortex of the adrenal gland and generally has a poor prognosis. ACC is rare but can be more commonly seen in those with cancer predisposition syndromes (e.g. Li-Fraumeni and Lynch Syndrome). The diagnosis of ACC is sometimes uncertain and it requires the use of precise molecular pathology; the differential diagnosis includes pheochromocytoma, adrenal adenoma, renal carcinoma, or hepatocellular carcinoma. We describe a case of a 57-year-old woman with Lynch Syndrome and metastatic ACC who was initially diagnosed as having pheochromocytoma. The tumor was first identified at 51 years of age by ultrasound followed by a CT scan. She underwent a left adrenalectomy, and the histopathology identified pheochromocytoma. Two years later, she had tumor recurrence with imaging studies showing multiple lung nodules. Following a wedge resection by video-assisted thoracoscopic surgery (VATS), histopathology was read as metastatic pheochromocytoma at one institution and metastatic ACC at another institution. She later presented to the National Institutes of Health (NIH) where the diagnosis of ACC was confirmed. Following her ACC diagnosis, she was treated with mitotane and pembrolizumab which were stopped due to side effects and progression of disease. She is currently receiving etoposide, doxorubicin, and cisplatin (EDP). This case highlights the importance of using a multi-disciplinary approach in patient care. Thorough evaluation of the tumor’s pathology and analysis of the patient’s genetic profile are necessary to obtain the correct diagnosis for the patient and can significantly influence the course of treatment.
Learning points:
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Making the diagnosis of ACC can be difficult as the differential diagnosis includes pheochromocytoma, adrenal adenoma, renal carcinoma, or hepatocellular carcinoma.
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Patients with Lynch Syndrome should undergo surveillance for ACC as there is evidence of an association between Lynch Syndrome and ACC.
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Conducting a complete tumor immunoprofile and obtaining a second opinion is very important in cases of suspected ACC in order to confirm the proper diagnosis.
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A multi-disciplinary approach including genetic testing and a thorough evaluation of the tumor’s pathology is imperative to ensuring that the patient receives an accurate diagnosis and the appropriate treatment.
Search for other papers by Maryam Heidarpour in
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Summary
Primary hyperparathyroidism revealed by thoracic spine brown tumor and peptic ulcer bleeding is rare. We presented a case of 33-year-old male patient who was admitted with paraplegia. Thoracic spine magnetic resonance imaging (MRI) showed extradural lesion at T4 level. He underwent surgical decompression in T4. According to histopathologic finding and elevated serum parathormone (PTH) and hypercalcemia (total serum calcium 12.1 mg/dL), the diagnosis of brown tumor was down. Ultrasonography of his neck showed a well-defined lesion of 26 × 14 × 6 mm. The day after surgery, he experienced 2 episodes of melena. Bedside upper gastrointestinal endoscopy showed gastric peptic ulcer with visible vessel. Treatment with intragastric local instillation of epinephrine and argon plasma coagulation was done to stop bleeding. After stabilization of the patient, parathyroidectomy was performed. Histologic study showed the parathyroid adenoma without any manifestation of malignancy. At discharge, serum calcium was normal (8.6 mg/dL). On 40th day of discharge, standing and walking status was normal.
Learning points:
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Thoracic spine involvement is a very rare presentation of primary hyperparathyroidism.
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The issue of whether primary hyperparathyroidism increases the risk of peptic ulcer disease remains controversial. However, gastrointestinal involvement has been reported in association with classic severe primary hyperparathyroidism.
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The treatment of brown tumor varies from case to case.
Search for other papers by Regina Streuli in
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Search for other papers by Ina Krull in
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Search for other papers by Michael Brändle in
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Search for other papers by Günter Stalla in
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Search for other papers by Annette Enzler-Tschudy in
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Search for other papers by Stefan Bilz in
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Summary
Ectopic ACTH/CRH co-secreting tumors are a very rare cause of Cushing’s syndrome and only a few cases have been reported in the literature. Differentiating between Cushing’s disease and ectopic Cushing’s syndrome may be particularly difficult if predominant ectopic CRH secretion leads to pituitary corticotroph hyperplasia that may mimic Cushing’s disease during dynamic testing with both dexamethasone and CRH as well as bilateral inferior petrosal sinus sampling (BIPSS). We present the case of a 24-year-old man diagnosed with ACTH-dependent Cushing’s syndrome caused by an ACTH/CRH co-secreting midgut NET. Both high-dose dexamethasone testing and BIPSS suggested Cushing’s disease. However, the clinical presentation with a rather rapid onset of cushingoid features, hyperpigmentation and hypokalemia led to the consideration of ectopic ACTH/CRH-secretion and prompted a further workup. Computed tomography (CT) of the abdomen revealed a cecal mass which was identified as a predominantly CRH-secreting neuroendocrine tumor. To the best of our knowledge, this is the first reported case of an ACTH/CRH co-secreting tumor of the cecum presenting with biochemical features suggestive of Cushing’s disease.
Learning points:
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The discrimination between a Cushing’s disease and ectopic Cushing’s syndrome is challenging and has many caveats.
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Ectopic ACTH/CRH co-secreting tumors are very rare.
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Dynamic tests as well as BIPSS may be compatible with Cushing’s disease in ectopic CRH-secretion.
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High levels of CRH may induce hyperplasia of the corticotroph cells in the pituitary. This could be the cause of a preserved pituitary response to dexamethasone and CRH.
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Clinical features of ACTH-dependent hypercortisolism with rapid development of Cushing’s syndrome, hyperpigmentation, high circulating levels of cortisol with associated hypokalemia, peripheral edema and proximal myopathy should be a warning flag of ectopic Cushing’s syndrome and lead to further investigations.
Search for other papers by Kazuyuki Oishi in
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Search for other papers by Yuichi Shibuya in
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Summary
We experienced a case of an 82-year-old woman who presented to our hospital with a 1-month history of dysphagia and dyspnea. Cervical contrast-enhanced computed tomography revealed diffuse thyroid neoplasms causing significant tracheal stenosis with tumors, particularly of the superior mediastinum, which were associated with an embolism of the brachiocephalic vein and suspected invasion to the bilateral common carotid arteries. Anaplastic thyroid cancer (ATC) was diagnosed by fine-needle aspiration; thus, emergency tracheostomy and gastrostomy were performed. We made a definitive diagnosis of ATC (T4bN0M0 Stage IVB) and initiated continuous lenvatinib administration at 24 mg/day. Although several adverse events occurred, the tumor size reduced remarkably over a short period. However, the patient died from rupture of the common carotid artery 30 days after treatment initiation. Here, we report our experience with lenvatinib therapy for ATC and include a literature review.
Learning points:
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Lenvatinib is extremely effective for ATC.
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Lenvatinib has a much greater cytoreductive effect than traditional therapies, but it needs dose reduction or withdrawal because of treatment-related side effects.
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Lenvatinib may cause treatment-related carotid blowout syndrome, resulting in death for patients with invasion to the carotid artery.
Search for other papers by A León-Suárez in
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Search for other papers by D Cuevas-Ramos in
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Summary
Non-Hodgkin lymphoma (NHL) is a hematological tumor caused by abnormal lymphoid proliferation. NHL can arise in any part of the body, including central nervous system (CNS). However, pituitary involvement is a quite rare presentation. The diffuse large B-cell lymphoma (DLBCL) is the most common subtype when pituitary is infiltrated. Here, we report a case of pituitary infiltration of NHL DLBCL type in a woman with hypopituitarism and an infundibulum-hypophysitis-like image on magnetic resonance imaging (MRI). A female aged 64 years, complained of dyspepsia, fatigue, weight loss and urine volume increment with thirst. Endoscopy and gastric biopsy confirmed diffuse large B-cell lymphoma. Treatment with chemotherapy using R-CHOP was initiated. During her hospitalization, hypotension and polyuria were confirmed. Hormonal evaluation was compatible with central diabetes insipidus and hypopituitarism. Simple T1 sequence of MRI showed thickening of the infundibular stalk with homogeneous enhancement. After lumbar puncture analysis, CNS infiltration was confirmed showing positive atypical lymphocytes. Pituitary and infundibular stalk size normalized after R-CHOP chemotherapy treatment. In conclusion, pituitary infiltration of NHL with infundibular-hypophysitis-like image on MRI is a rare finding. Clinical picture included hypopituitarism and central diabetes insipidus. Diagnosis should be suspected after biochemical analysis and MRI results. Treatment consists of chemotherapy against NHL and hormonal replacement for pituitary dysfunction.
Learning points:
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Pituitary infiltration by lymphoma can present with signs and symptoms of panhypopituitarism and diabetes insipidus.
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MRI findings can resemble an autoimmune hypophysitis.
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Patients can recover pituitary function as well as normalization of MRI after chemotherapy treatment.
Search for other papers by Jerena Manoharan in
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Search for other papers by Caroline L Lopez in
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German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Dresden, Germany
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German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Dresden, Germany
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Summary
We report about a young female who developed an unusual and an aggressive phenotype of the MEN1 syndrome characterized by the development of a pHPT, malignant non-functioning pancreatic and duodenal neuroendocrine neoplasias, a pituitary adenoma, a non-functioning adrenal adenoma and also a malignant jejunal NET at the age of 37 years. Initial Sanger sequencing could not detect a germline mutation of the MEN1 gene, but next generation sequencing and MPLA revealed a deletion of the MEN1 gene ranging between 7.6 and 25.9 kb. Small intestine neuroendocrine neoplasias (SI-NENs) are currently not considered to be a part of the phenotype of the MEN1-syndrome. In our patient the SI-NENs were detected during follow-up imaging on Ga68-Dotatoc PET/CT and could be completely resected. Although SI-NENs are extremely rare, these tumors should also be considered in MEN1 patients. Whether an aggressive phenotype or the occurrence of SI-NENs in MEN1 are more likely associated with large deletions of the gene warrants further investigation.
Learning points
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Our patient presents an extraordinary course of disease.
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Although SI-NENs are extremely rare, these tumors should also be considered in MEN1 patients, besides the typical MEN1 associated tumors.
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This case reports indicate that in some cases conventional mutation analysis of MEN1 patients should be supplemented by the search for larger gene deletions with modern techniques, if no germline mutation could be identified by Sanger sequencing.
Search for other papers by Jin-Ying Lu in
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Department of Medical Genetics, National Taiwan University Hospital, Taipei, 100, Taiwan
Graduate Institute of Medical Genomics and Proteomics, National Taiwan University, Taipei, 100, Taiwan
Graduate Institute of Clinical Medicine, National Taiwan University, Taipei, 100, Taiwan
Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, Taipei, 100, Taiwan
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Department of Pathology, National Taiwan University Hospital, Taipei, 100, Taiwan
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Department of Medicine, College of Medicine, National Taiwan University, Taipei, 100, Taiwan
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Department of Medicine, College of Medicine, National Taiwan University, Taipei, 100, Taiwan
Department of Social Medicine, College of Medicine, National Taiwan University, Taipei, 100, Taiwan
Department of Medicine, Cathay General Hospital, Taipei, 106, Taiwan
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Department of Medicine, College of Medicine, National Taiwan University, Taipei, 100, Taiwan
Department of Internal Medicine, China Medical University Hospital, Taichung, 404, Taiwan
Department of Internal Medicine, China Medical University, Taichung, 404, Taiwan
Search for other papers by Ching-Chung Chang in
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Summary
We report a case of follicular thyroid carcinoma with concomitant NRAS p.Q61K and GNAS p.R201H mutations, which manifested as a 13.5 cm thyroid mass with lung, humerus and T9 spine metastases, and exhibited good response to radioactive iodine treatment.
Learning points
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GNAS p.R201H somatic mutation is an activating or gain-of-function mutation resulting in constitutively activated Gs-alpha protein and downstream cAMP cascade, independent of TSH signaling, causing autonomously functioning thyroid nodules.
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NRAS p.Q61K mutations with GNAS p.R201H mutations are known for a good radioactive iodine treatment response.
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Further exploration of the GNAS-activating pathway may provide therapeutic insights into the treatment of metastatic follicular carcinoma.
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Summary
Multiple endocrine neoplasia type 1 (MEN-1) is a rare autosomal-dominant disease characterized by tumors in endocrine and/or non endocrine organs due to mutations in MEN1 encoding a nuclear scaffold protein‘menin’ involved in regulation of different cellular activities. We report a novel 14 bp MEN1 deletion mutation in a 35-year-old female with history of recurrent epigastric pain, vomiting, loose stools and weight loss. On evaluation she was diagnosed to have multifocal gastro-duodenal gastrinoma with paraduodenal lymph nodes and solitary liver metastasis. She was also found to have primary hyperparathyroidism with bilateral inferior parathyroid adenoma. Pancreatico-duodenectomy with truncalvagotomy was performed. Four months later, radiofrequency ablation (RFA) of segment 4 of the liver was done followed by three and a half parathyroidectomy. MEN1 screening was carried out for the patient and her family members. MEN-1 sequencing in the patient revealed a heterozygous 14 bp exon 8 deletion. Evaluation for pathogenicity and protein structure prediction showed that the mutation led to a frameshift thereby causing premature termination resulting in a truncated protein. To conclude, a novel pathogenic MEN1 deletion mutation affecting its function was identified in a patient with hyperparathyroidism and gastrinoma. The report highlights the clinical consequences of the novel mutation and its impact on the structure and function of the protein. It also provides evidence for co-existence of pancreatic and duodenal gastrinomas in MEN1 syndrome. MEN1 testing provides important clues regarding etiology and therefore should be essentially undertaken in asymptomatic first degree relatives who could be potential carriers of the disease.
Learning points
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Identification of a novel pathogenic MEN1 deletion mutation.
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MEN1 mutation screening in patients with pituitary, parathyroid and pancreatic tumors, and their first degree relatives gives important clues about the etiology.
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Pancreatic and duodenal gastrinomas may co-exist simultaneously in MEN1 syndrome.
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Summary
Bilateral lower limb paraesthesia is a common diabetic neuropathy presentation in any busy diabetic clinics. We present a case of a 28-year-old man with a long history of type 1 diabetes mellitus presented with bilateral paraesthesia of both feet and unsteady gait. The patient was able to feel a 10 g monofilament. The presence of brisk reflexes and upgoing plantars in this patient were pointers that further evaluation was warranted. Further investigations revealed diagnosis of subacute combined degeneration of spinal cord. The patient had rapid symptomatic improvement with i.m. vitamin B12 injection. The high volume of patients attending the outpatients with diabetes and paraesthesia can blind us to other possible diagnoses. This article emphasizes that peripheral neuropathy in a diabetic may be due to aetiologies other than diabetes.
Learning points
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Pernicious anaemia is known to be more common in patients with type 1 diabetes.
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Cobalamin deficiency is reversible if detected early enough and treated by B12 replacement.
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By contrast, diabetic neuropathy is generally a progressive complication of diabetes.
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Peripheral neuropathy in a diabetic may be due to aetiologies other than diabetes.
