scholarly journals MON-921 Autonomous Cortisol Secretion Coexisting with Pancreatic Neuroendocrine Tumor: A Rare Presentation

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Fernanda Faro ◽  
Gabriela Karman ◽  
Nathalia Dal-Prá ◽  
Jéssica Loureiro ◽  
Cecilia Kauffman Rutenberg Feder ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Pancreatic Neuroendocrine Tumor ◽  
Systemic Hypertension ◽  
Cortisol Secretion ◽  
Ectopic Acth ◽  
Ectopic Acth Secretion ◽  
Adrenocortical Tumors ◽  
Autonomous Cortisol Secretion ◽  
Adrenal Nodule

Abstract Introduction: neuroendocrine tumors (NET) are a very rare and heterogeneous group of malignancies that can be associated with adrenocortical tumors in approximately 20% of the cases, mostly bilateral and non-functioning. Autonomous cortisol secretion occurs in less than 10% of adrenal incidentalomas and the coexistence of pancreatic neuroendocrine neoplasms and autonomous cortisol secretion is not well-described. Clinical case: a 54-year-old man with previous history of systemic hypertension and type 2 diabetes mellitus, presented with left hypochondrium pain in the last 18 months, associated with abdominal distension, constipation and nausea. Physical examination without abnormalities. Abdominal tomography demonstrated dilatated pancreatic duct and a solid heterogeneous nodule in left adrenal, measuring about 2.7 cm. Ecoendoscopy revealed a heterogeneous, hypoechoic and oval nodular lesion, located at the transition of pancreatic head and uncinate process, measuring 1.5x1.1cm. Biopsy was performed, showing a pattern of neuroendocrine neoplasia, with chromogranin and synaptophysin +, Ki67 1%. Gallium-68 dotatate PET revealed two pancreatic nodular formations, one in proximal neck/body (1.5 cm) and the other in pancreatic tail (1 cm), presenting SUV of 20.4 and 21, respectively. Adrenal nodule presented minimal increase in radiopharmaceutical concentration. To exclude the hypothesis of metastasis, PET FDG was performed, showing physiological uptake in adrenal nodule. Pituitary MRI had no abnormalities. Chromogranin A and gastrin values were normal. Pheochromocytoma and primary hyperaldosteronism were excluded. Hypercortisolism investigation presented the following results: 23h salivary cortisol 167ng/dl (NR < 100), 24-hour free urinary cortisol 42.1 mcg/24h (NR 4.2-60), post-1mg and 2mg dexamethasone serum cortisol of 10.8 mcg/dl and 3.8 respectively (serum dexamethasone levels of 193 and 780 ng/dl; NR > 130), ACTH 13 and 11 pg/ml. By these results, coexistence of non-functioning pancreatic neuroendocrine tumor and autonomous cortisol secretion was confirmed. A total pancreatectomy with partial gastrectomy and bileodigestive anastomosis was performed. Pathological anatomical evidence demonstrated a well-differentiated neuroendocrine tumor (NET G1) and immunohistochemistry analyses showed positive chromogranine A, synaptophysine, Ki67 1% and negative ACTH. Clinical follow-up of the adrenal adenoma was preferred. Conclusion: although most adrenocortical tumors associated with NET are nonfunctional, hypercortisolism should be considered. Adrenal metastasis and ectopic ACTH secretion are differential diagnosis. Clinical follow-up is an option when patient is asymptomatic and comorbidities are well-controlled.

scholarly journals Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 512
Author(s):  
Aleksandra Gilis-Januszewska ◽  
Anna Bogusławska ◽  
Kornelia Hasse-Lazar ◽  
Beata Jurecka-Lubieniecka ◽  
Barbara Jarząb ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Malignant Tumors ◽  
Genetic Disorder ◽  
Family Members ◽  
Pancreatic Neuroendocrine Tumor ◽  
Index Patient ◽  
Generation Family

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C>T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C>T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C>T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation.

scholarly journals Pancreatic Neuroendocrine Tumor with Benign Serous Cystadenoma: A Rare Entity

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Randhir Sagar Yadav ◽  
Ashik Pokharel ◽  
Shumneva Shrestha ◽  
Ashbita Pokharel ◽  
Deepshikha Gaire ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Histopathological Examination ◽  
Epigastric Pain ◽  
Pancreatic Neuroendocrine Tumor ◽  
Serous Cystadenoma ◽  
Neuroendocrine Neoplasm ◽  
Management Approach ◽  
Cystic Neoplasms ◽  
Distal Pancreas

Mixed serous-neuroendocrine neoplasm constitutes pancreatic serous cystic neoplasms and pancreatic neuroendocrine tumor, two tumor components with different underlying pathologies. The differentiation of these tumors is important as the management and prognosis depend on the pancreatic neuroendocrine tumor component. We report a case of mixed serous-neuroendocrine neoplasm in a 47-year-old female who presented with epigastric pain abdomen for two years. Imaging studies, tumor markers, thorough systemic evaluation, surgical resection, histopathological examination, and timely follow-up constituted our management approach. A 4 cm × 4 cm mass in the distal pancreas with multiple cysts in the pancreatic parenchyma containing serous fluid on distal pancreatectomy and splenectomy was found. The histopathological examination revealed combined benign serous cystadenoma and neuroendocrine tumor. She did not have any recurrence or metastasis by four years of follow-up.

scholarly journals The Impact of Repeating Endosonography with Confocal Endomicroscopy for the Diagnosis of Cystic Neuroendocrine Tumor

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Iqra Haq ◽  
Somashekar G. Krishna ◽  
Bhaveshkumar Patel ◽  
Thavam Thambi-Pillai ◽  
Chencheng Xie ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Neuroendocrine Tumors ◽  
Pancreatic Pseudocyst ◽  
Incidental Finding ◽  
Pancreatic Neuroendocrine Tumor ◽  
Needle Aspiration ◽  
Confocal Laser Endomicroscopy ◽  
Confocal Laser ◽  
The Impact

Cystic pancreatic neuroendocrine tumors represent around 13% of all neuroendocrine tumors (Hurtado-Pardo 2017). There has been an increase in the incidence of cases due to improvement in imaging modalities. This is a case of a 68-year-old male with the incidental finding of a pancreatic cyst on CT. Initial Endoscopic Ultrasound with Fine Needle Aspiration (EUS-FNA) showed sonographic and cytology features suggestive of a pancreatic pseudocyst. However the cyst persisted with no change in size after aspiration leading to a follow-up EUS- FNA, which was combined with needle based confocal laser endomicroscopy (nCLE). The nCLE features were consistent with a cystic pancreatic neuroendocrine tumor, which was later confirmed on histology after surgical resection.

scholarly journals SUN-938 Rare Case of Ectopic Cushing Syndrome Caused by ACTH Secreting Thymic Neuroendocrine Tumor in a Patient with Multiple Endocrine Neoplasia Type 1

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Yamuna Gorantla ◽  
Jorge Soria Moncada ◽  
Juan Sarmiento ◽  
Ambika Amblee ◽  
Malini Ganesh
Keyword(s):  
Neuroendocrine Tumor ◽  
Poor Prognosis ◽  
Rare Case ◽  
Cushing Syndrome ◽  
Acth Secretion ◽  
Ectopic Acth ◽  
Ectopic Acth Secretion ◽  
Multiple Tumors ◽  
Men 1 ◽  
Acth Secreting

Abstract Introduction Cushing syndrome (CS) represents an uncommon manifestation of MEN1 and can be caused by both ACTH dependent or independent etiologies. Among them, ectopic ACTH secretion from a Thymic neuroendocrine tumor (TNET) in MEN1 is rare, with very few cases reported so far in literature. We report a case of Ectopic Cushing syndrome (ECS) in a MEN1 patient (pt) with multiple tumors, secondary to ACTH-secreting TNET. Case description: A 44 year old male presented to our institution for nausea, vomiting, dizziness. He had initial workup which revealed multiple tumors (papillary thyroid cancer, thymic mass, parathyroid adenomas, bilateral adrenal nodules, macroprolactinoma, peripancreatic nodules). Given concern for MEN 1, genetic testing was performed which was confirmative. Hormonal workup at this time for adrenal nodules was negative including low dose dexamethasone suppression test(DST). The immobile thymic mass was found to be poorly differentiated NET on biopsy with Ki-67 >50% with vascular invasion and adhesions to lung/chest wall on VATS, not amenable to surgery. The pt declined chemotherapy and radiotherapy due to poor social support. Six months later, he presented with complaints of shortness of breath, proximal muscle weakness, anasarca. Evaluation revealed AM cortisol >60 ug/dL(range 6.7-22), high-dose DST Cortisol >60 ug/dL, 24hr urine free cortisol: 8511mcg (range 4-50) and ACTH level: 278pg/mL(range 6-50) confirming ACTH-dependent CS. Special stains from the previous TNET biopsy demonstrated positive staining for ACTH confirming ectopic ACTH secretion. Ketoconazole and chemotherapy with Etoposide and Carboplatin was started, however he clinically deteriorated and expired a few weeks after diagnosed of ECS. Discussion: TNET in MEN 1 is rare, with a prevalence of 3-8%. TNET are unusual neoplasms that account for 2% to 7% of all mediastinal tumors. TNET in MEN1 rarely secrete functional hormones with very few reported Ectopic ACTH secretion. MEN1 associated ECS from TNET is an aggressive disease with local invasion of adjacent mediastinal structures or metastasis being common, resulting in poor prognosis as demonstrated in few case reports including our case. Radical surgery of involved adjacent structures and adjuvant local RT can provide local disease control. Conclusion: Our pt is a rare case of ECS from TNET in MEN1 with poor prognosis. A special feature of this case is that the patient had initial negative evaluation for hypercortisolemia, however 6 months later he presented with signs and symptoms of severe hypercortisolism, with evaluation confirming transformation into ACTH producing TNET. This conversion is very rarely found in literature and adds to the unique presentation of the case.

scholarly journals Management of adrenal incidentalomas: European Society of Endocrinology Clinical Practice Guideline in collaboration with the European Network for the Study of Adrenal Tumors

2016 ◽  
Vol 175 (2) ◽  
pp. G1-G34 ◽  
Author(s):  
Martin Fassnacht ◽  
Wiebke Arlt ◽  
Irina Bancos ◽  
Henning Dralle ◽  
John Newell-Price ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Adrenal Mass ◽  
Adrenal Incidentaloma ◽  
Serum Cortisol ◽  
Cushing's Syndrome ◽  
Cortisol Secretion ◽  
Adrenal Incidentalomas ◽  
Adrenal Masses ◽  
Autonomous Cortisol Secretion

By definition, an adrenal incidentaloma is an asymptomatic adrenal mass detected on imaging not performed for suspected adrenal disease. In most cases, adrenal incidentalomas are nonfunctioning adrenocortical adenomas, but may also represent conditions requiring therapeutic intervention (e.g. adrenocortical carcinoma, pheochromocytoma, hormone-producing adenoma or metastasis). The purpose of this guideline is to provide clinicians with best possible evidence-based recommendations for clinical management of patients with adrenal incidentalomas based on the GRADE (Grading of Recommendations Assessment, Development and Evaluation) system. We predefined four main clinical questions crucial for the management of adrenal incidentaloma patients, addressing these four with systematic literature searches: (A) How to assess risk of malignancy?; (B) How to define and manage low-level autonomous cortisol secretion, formerly called ‘subclinical’ Cushing’s syndrome?; (C) Who should have surgical treatment and how should it be performed?; (D) What follow-up is indicated if the adrenal incidentaloma is not surgically removed?Selected recommendations:(i) At the time of initial detection of an adrenal mass establishing whether the mass is benign or malignant is an important aim to avoid cumbersome and expensive follow-up imaging in those with benign disease. (ii) To exclude cortisol excess, a 1mg overnight dexamethasone suppression test should be performed (applying a cut-off value of serum cortisol ≤50nmol/L (1.8µg/dL)). (iii) For patients without clinical signs of overt Cushing’s syndrome but serum cortisol levels post 1mg dexamethasone >138nmol/L (>5µg/dL), we propose the term ‘autonomous cortisol secretion’. (iv) All patients with ‘(possible) autonomous cortisol’ secretion should be screened for hypertension and type 2 diabetes mellitus, to ensure these are appropriately treated. (v) Surgical treatment should be considered in an individualized approach in patients with ‘autonomous cortisol secretion’ who also have comorbidities that are potentially related to cortisol excess. (vi) In principle, the appropriateness of surgical intervention should be guided by the likelihood of malignancy, the presence and degree of hormone excess, age, general health and patient preference. (vii) Surgery is not usually indicated in patients with an asymptomatic, nonfunctioning unilateral adrenal mass and obvious benign features on imaging studies. We provide guidance on which surgical approach should be considered for adrenal masses with radiological findings suspicious of malignancy. Furthermore, we offer recommendations for the follow-up of patients with adrenal incidentaloma who do not undergo adrenal surgery, for those with bilateral incidentalomas, for patients with extra-adrenal malignancy and adrenal masses and for young and elderly patients with adrenal incidentalomas

scholarly journals ACTH-Producing Thymic Carcinoid: A Rare Cause of Cushing’s Syndrome

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A990-A990
Author(s):  
Lisette Patricia Rodriguez ◽  
Wende Michele Kozlow
Keyword(s):  
Cushing’S Syndrome ◽  
Mediastinal Mass ◽  
Cushing's Syndrome ◽  
Anterior Mediastinal Mass ◽  
Thymic Carcinoid ◽  
Acth Secretion ◽  
Ectopic Acth ◽  
Ectopic Acth Secretion ◽  
History Of

Abstract Background: Thymic carcinoids are rare neoplasms that account for less than 5% of all thymic tumors. Approximately 25% of these tumors will result in Cushing’s syndrome due to ectopic ACTH secretion. These tumors can also be associated with MEN1 syndrome. This is a case report of a patient with history of macroprolactinoma now presenting with Cushing’s syndrome due to ectopic ACTH production from a thymic carcinoid tumor. Clinical Case: This is a 57 year old male with history of pituitary macroprolactinoma diagnosed in 2011, now status post transsphenoidal resection and external beam radiation therapy, with persistent hyperprolactinemia on cabergoline, who presented to our clinic for a routine follow up visit. Patient had already developed secondary hypogonadism and secondary hypothyroidism as a consequence of treatment for the macroprolactinoma. He complained of worsening fatigue and weight gain ongoing for several months. Laboratory studies revealed an hemoglobin A1c of 8.3% (nl < 5.7%), TSH 0.24 MIU/L (0.4-4.5 MIU/L), free T4 1.2 ng/dL (0.8-1.8 ng/dL), 8 AM cortisol 31.4 mcg/dL (4-22 mcg/dL), ACTH 185 pg/mL (6-50 pg/dL), prolactin 29.6 ng/mL (2-18 ng/mL), IGF-1 88 ng/mL (50-317 ng/mL). Follow up labs confirmed cushings syndrome: cortisol AM-DST 36.4 mcg/dL (< 2 mcg/dL), free urinary cortisol 291.9 mcg/24h (2-50 mcg/24h). Pituitary MRI showed empty sella turcica. Cortisol after an 8 mg DST 32.5 mcg/dL (< 5 mcg/dL). CT chest, abdomen and pelvis revealed an heterogeneously enhancing solid anterior mediastinal mass measuring 4.9 x 3.1 x 4.3 cm. Whole body OctreoScan showed a markedly hyperintense large mass adjacent to the right heart border measuring 47 x 32 mm. He was referred to cardiothoracic surgery and underwent a right video-assisted thoracic surgery with resection of the anterior mediastinal mass. Pathology revealed a thymic well-differentiated neuroendocrine tumor with strong cytoplasmic staining for ACTH. It was also positive for OSCAR, Cam5.2, synaptophysin, CD56, and S100. Ki67 stain was positive in fewer than 1% of tumor cells. Final diagnosis was carcinoid tumor. Conclusion: Cushing’s syndrome secondary to ectopic ACTH secretion from a thymic carcinoid is rare. The presence of two MEN1-associated tumors in this patient, macroprolactinoma and thymic carcinoid, is highly suggestive of a clinical diagnosis of MEN 1.

Autonomous cortisol secretion in adrenal incidentalomas and increased visceral fat accumulation during follow-up

2017 ◽  
Vol 87 (5) ◽  
pp. 425-432 ◽  
Author(s):  
Serkan Yener ◽  
Mustafa Baris ◽  
Ahmet Peker ◽  
Omer Demir ◽  
Basak Ozgen ◽  
...  
Keyword(s):  
Visceral Fat ◽  
Cortisol Secretion ◽  
Adrenal Incidentalomas ◽  
Fat Accumulation ◽  
Visceral Fat Accumulation ◽  
Autonomous Cortisol Secretion

scholarly journals DIAGNOSIS OF ENDOCRINE DISEASE: The role of the desmopressin test in the diagnosis and follow-up of Cushing’s syndrome

2018 ◽  
Vol 178 (5) ◽  
pp. R201-R214 ◽  
Author(s):  
Dimitra Argyro Vassiliadi ◽  
Stylianos Tsagarakis
Keyword(s):  
Cushing’S Syndrome ◽  
Cushing's Syndrome ◽  
Aberrant Expression ◽  
Ectopic Acth ◽  
Long Term Outcome ◽  
Ectopic Acth Secretion ◽  
Paradoxical Response

Desmopressin is a vasopressin analogue selective for type 2 vasopressin receptors that mediate renal water retention. In contrast to the native hormone arginine vasopressin, a well-known ACTH secretagogue, desmopressin, exerts minimal or no activity on ACTH excretion. However, in a substantial proportion of patients with ACTH-dependent Cushing’s syndrome (CS), desmopressin elicits an ACTH and cortisol response, which contrasts with the minimal responses obtained in healthy subjects. The mechanism underlying this paradoxical response involves upregulation of vasopressin type 3 and/or the aberrant expression of type 2 receptors by neoplastic ACTH-producing cells. This makes desmopressin administration a suitable test enabling the distinction between neoplastic from functional (formerly termed ‘pseudo-Cushing syndrome’) ACTH-dependent cortisol excess. Several studies have now established an adjunctive role of desmopressin in the initial diagnostic workup of CS. Despite some early data indicating that this test may also have a role in distinguishing between Cushing’s disease (CD) and ectopic ACTH secretion, subsequent studies failed to confirm this observation. The ability of the paradoxical response to desmopressin to depict the presence of neoplastic ACTH-secreting cells was also exploited in the follow-up of patients with CD undergoing surgery. Loss of the desmopressin response, performed in the early postoperative period, was a good predictor for a favorable long-term outcome. Moreover, during follow-up, reappearance of desmopressin paradoxical response was an early indicator for recurrence. In conclusion, the desmopressin test is a valid tool in both the diagnosis and follow-up of patients with CD and should be more widely applied in the workup of these patients.

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