Familial Adenomatous Polyposis Associated With Bilateral Adrenocortical Tumors and Agressive Desmoid Tumor

Abstract Background: Familial adenomatous polyposis (FAP) is an autosomal dominant condition caused by germline mutation in the tumor suppressor gene APC. FAP occurs in 1 to 10.000 individuals, and is characterized by hundreds to thousands of colonic adenomatous polyps with a high risk of developing into colorectal cancer. Extracolonic manifestations can be malignant or benign. The major causes of morbidity and mortality in patients with FAP are abdominal desmoid tumors, with incidences ranging between 7% and 17%. Adrenal incidentaloma are frequently discovered in these patients, generally as benign lesions when they undergo abdominal CT-scan in the course of surveillance. Adrenal lesions in FAP ranged from 7.4% to 16%. We described an unusual patient with FAP, associated with autonomous cortisol production due to bilateral adrenal tumors and the development of aggressive desmoid tumor after unilateral adrenalectomy. Clinical Case: A 33-years-old female FAP-patient presented with abdominal pain, weight gain (10kgs), humor instability, paroxysmal of chest pain, dizziness and tremors. The abdominal MRI showed a heterogeneous, left adrenal mass (9.0 x 7.9 x 6.7cm), suspected for malignant tumor, and right adrenal mass with 3.6 x 1.8 cm suggestive of adenoma. Abdominal CT and PETCTFDG revealed on the left adrenal lesion with 33UH and maxSUV 3.9 and a right adrenal lesion 13UH and maxSUV 3.1. Serum hormone levels were as follows: cortisol after DST (1mg-dexamethasone) 4.8 ug/Dl, ACTH 8,8pg/Ml with no other abnormal hormone secretion detected. Patient underwent left adrenalectomy. Histological analysis revealed Weiss 1, modified Weiss 2 and Ki67 <1% compatible with adenoma. On follow-up, abdominal MRI revealed a 4.3cm-solid-homogeneous mass at the surgical incision, suspected of malignance. The mass progressively enlarged to 6.3 cm in diameter. Histological analysis of the biopsy identified a desmoid tumor. The contralateral adrenal tumor maintained stable during the follow-up; however, it began to produce cortisol autonomous secretion as observed on DST. The patient developed metabolic syndrome and did not present classical Cushing’ syndrome. Contralateral adrenalectomy was contraindicated because of concern of emergence of a new desmoid tumor. Discussion: FAP-associated with adrenal tumors can produce mineralocorticoids, corticosteroids, or both. Although adrenal cortical tumors have been reported frequently in FAP patients, the presence of bilateral commitment tumors on adrenal glands is extremely rare. Conclusion: We reported a woman with FAP and bilateral adrenal tumors with non-synchronic cortisol secretion associated with an aggressive desmoid tumor developing after the adrenalectomy. The patient is taking an adrenal inhibitor of steroidogenesis to control cortisol secretion and to provide clinical improvement.

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

Acta Endocrinologica ◽

10.1530/eje-16-0467 ◽

2016 ◽

Vol 175 (2) ◽

pp. G1-G34 ◽

Cited By ~ 444

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

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Atypical Adrenaliemmas

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.236 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A117-A118

Author(s):

Ahmad Al Maradni ◽

Karyne Lima Vinales ◽

Ricardo Rafael Correa

Keyword(s):

Surgical Resection ◽

Histological Examination ◽

Adrenal Mass ◽

Case Series ◽

Adrenal Tumors ◽

Histopathological Diagnosis ◽

Nerve Sheath Tumor ◽

Adrenal Incidentalomas ◽

Increased Risk

Abstract Introduction: Adrenal Incidentalomas (AI) are increasingly found with recent proliferation in imaging techniques. The precise prevalence of AI is not well established but estimated to be about 5%. Such findings require thorough work and follow up plans to assess for hormonal functionality and differentiate between benign or a malignant entity. Adrenocortical carcinoma (AC), schwannoma (SCH), ganglioneuroma (GN), myelolipoma (ML), neuroblastoma (NB), and ganglioneuroblastoma (GNB) are a rare presentation of AIs. In this case series, we present 2 cases of uncommon AIs. Cases Series: Case 1: A 55-year-old man presented to the hospital with episodic dizziness, nausea, vomiting, and diaphoresis. His physical examination and blood workup were unremarkable. He takes multiple antihypertensive medications at home. CT abdomen revealed an incidental 5 cm mass adjacent to the left adrenal gland which was confirmed to be of adrenal origin on MRI. The hormonal workup was negative. and patient. Laparoscopic left adrenalectomy was performed. Histopathological diagnosis pointed to a benign nerve sheath tumor. Tumor cells stained positive for S-100 and negative for CD34 and epithelial membrane antigen. The morphologic features and immunohistochemical profile consistent with adrenal SCH diagnoses, confirmed by two histopathologists. Postoperatively, Blood pressure improved, and the patient has no evidence of recurrence on subsequent follow-ups. Case 2: A 38-year-old female presented to the hospital with severe right groin pain. During the workup, a CT abdomen revealed a homogeneous, lobulated, minimally enhanced, 5.8 cm right adrenal mass with no calcifications. The hormonal workup was negative. FDG-PET scan showed low uptake in the right adrenal mass. Adrenalectomy was performed and histological examination revealed Schwan cells and neurites with occasional ganglion cells compatible with benign GN. Discussion: SCHs originate from Schwann cells in peripheral nerve sheaths. Adrenal SCHs are rare, they represent about 0.5% of all SCHs. Surgical resection is the initial management as imagings are non-diagnostic and appearance does not distinguish benign from malignant lesions. Adrenal GNs originate from neural crest cells in the adrenal medulla and represents between 20–30% of all GNs. They may be primary or evolve from differentiating NB. The majority of them are sporadic. GNs are typically benign and asymptomatic. However, larger GNs are associated with an increased risk of malignancy, a 33% risk for 5 cm compared to 92% for 6 cm. Surgical resection is necessary, especially for larger masses. Conclusion: Besides the common adrenal incidentalomas and their proper work and follow up plans, a clinician should consider atypical adrenal tumors with unusual presentation. Surgical treatment and histological examination are essential for an accurate diagnosis.

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Gardner syndrome with giant abdominal desmoid tumor during pregnancy: a case report

BMC Surgery ◽

10.1186/s12893-020-00944-z ◽

2020 ◽

Vol 20 (1) ◽

Author(s):

Liquan Jin ◽

Yunbo Tan ◽

Ziting Su ◽

Shan Huang ◽

Sita Pokhrel ◽

...

Keyword(s):

Desmoid Tumor ◽

Abdominal Mass ◽

Pathological Examination ◽

Desmoid Tumors ◽

Adenomatous Polyposis ◽

Abdominal Tumor ◽

Gardner Syndrome ◽

Increased Risk ◽

Abdominal Desmoid Tumor

Abstract Background Gardner syndrome is a subtype of familial adenomatous polyposis (FAP), characterized by a combination of adenomatous intestinal polyps and extracolonic lesions such as multiple osteomas, dental abnormalities, and soft tissue tumors. Although 12% of patients with intestinal polyposis of FAP may occur intra-abdominal desmoid tumors, pregnancy complicating with giant abdominal desmoid tumors is a relatively rare case. Case presentation A 28-year-old pregnant woman was diagnosed with Gardner syndrome in whom an intra-abdominal tumor was found a year after undergoing a laparoscopic total colectomy due to family adenomatous polyposis. At 32 weeks’ gestation, she presented to our department for the third time complaining upper abdominal pain caused by the giant abdominal mass about 21 × 12 cm2 in size. After multidisciplinary consultation and discussion, the decision of fetal preservation treatment was made. After the delivery of a baby girl, abdominal mass resection was performed, and pathological examination revealed a fibrous adenoma. The patient was discharged after a week and was uneventful in the follow-up for half a year. Conclusions Gardner syndrome is characterized by typical syndrome including family adenomatous polyposis and extra-intestinal tissue tumor. Were desmoid tumors rarely as large as fetus and local aggressively. In our case, we selected surgery to remove the intra-abdominal desmoid tumor after the natural delivery of the fetus and no abnormalities were observed during the 6 months follow-up. Women during pregnancy have an increased risk for the development of desmoid tumors, likely with the sex hormone to be one of the triggers. Therefore, we suggested that when a patient with Gardner syndrome desire to conceive again, they should go to the hospital for a regular review at least once every 3 months.

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Importance of sessile serrated lesions in a patient with familial adenomatous polyposis

Clinical Journal of Gastroenterology ◽

10.1007/s12328-021-01498-0 ◽

2021 ◽

Author(s):

Motoki Watanabe ◽

Hideki Ishikawa ◽

Shingo Ishiguro ◽

Michihiro Mutoh

Keyword(s):

Colorectal Cancer ◽

Familial Adenomatous Polyposis ◽

Histological Analysis ◽

Endoscopic Polypectomy ◽

Adenomatous Polyposis ◽

Elevated Type ◽

High Risk Lesion ◽

Serrated Lesions ◽

Serrated Lesion

AbstractA 28-year-old male visited hospital because his mother had been diagnosed with familial adenomatous polyposis (FAP) with a pathological variant of the APC gene. Total colonoscopy showed that he has more than 100 polyps distributed throughout the colorectum, and the APC gene variant was also detected. After he was diagnosed with FAP, he received information that surgery was currently the only way to prevent the development of colorectal cancer. However, he firmly declined to undergo surgical procedures and decided to have strict follow-up with frequent endoscopic polypectomy to prevent the development of colorectal cancer. At the first endoscopy, polypectomy was performed on 52 polyps. Histological analysis of the dissected polyps showed that they were all adenomas, but adenocarcinoma was not detected. The second endoscopic polypectomy was performed after 4 months later. We found a pale 20 mm wide flat, elevated type polyp in the ascending colon with an adherent mucus cap that was resistant to washing off. After endoscopic mucosal resection, histological analysis revealed that there were two lesions in the polyps, a sessile serrated lesion (SSL) and SSL with dysplasia. SSL is a high-risk lesion for colorectal cancer, but it was reported to be rare in patients with FAP, and the existence of SSL suggested another carcinogenesis pathway in patients with FAP in addition to the adenoma-carcinoma sequence. Our report may be significant not only in consideration of the pathogenesis of FAP but also useful to raise awareness of SSL for clinicians who perform endoscopic polypectomy to prevent the development of colorectal cancer in patients with FAP.

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A 43 Years Old Lady with Silent Pheochromocytomaÿa Case Report

Journal of Dhaka Medical College ◽

10.3329/jdmc.v25i2.33980 ◽

2017 ◽

Vol 25 (2) ◽

pp. 129-132

Author(s):

Nandita Paul ◽

Tarun Kumar Saha ◽

Tushar Kanti Barman ◽

Anupam Das ◽

Rokozzaman Bhuyian ◽

...

Keyword(s):

Adrenal Gland ◽

Adrenal Mass ◽

Adrenal Incidentaloma ◽

Surgical Excision ◽

Adrenal Tumors ◽

Abdominal Ct ◽

Medical College ◽

Adrenal Masses ◽

The Right ◽

Pathological Report

Improvements in imaging studies have resulted in an increase in incidentally discovered adrenal tumors. The adrenal incidentaloma was found in at least 2% on abdominal CT imaging and pheochromocytoma was reported to be about 5.1 to 6.55% among these patients. Here we report a case of silent pheochromocytoma presented as an incidentally discovered adrenal mass on abdominal sonogram. In our case patient had no apparent symptom and sign of pheochromocytoma except mild hypertention . Incidental findings in USG reveal retroperitoneal mass located in right adrenal gland. Finally CT scan of abdomen confirmed adrenal mass. Surgical excision the right adrenal gland was performed with pathological report as a benign pheochromocytoma. Majority of incidentally discovered adrenal masses are non hypersecretory benign adenomas; but a hormone screening evaluation is necessary to reveal cases with clinically unsuspected hypersecretory nature. For prevention of possible lethal outcome, patients with silent pheochromocytoma scheduled to undergo surgery should be treated according to the hemodynamic parameters.J Dhaka Medical College, Vol. 25, No.2, October, 2016, Page 129-132

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SAT-200 Clinical Dilemmas of Adrenal Incidentaloma, Is Change in HU Clinically Significant?

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.1858 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Azra Niaz ◽

John Jun ◽

Sophia Y Ali

Keyword(s):

Adrenal Mass ◽

Cushing Syndrome ◽

Adrenal Adenoma ◽

Adrenal Incidentaloma ◽

Adrenal Tumors ◽

Size Change ◽

Attenuation Value ◽

Noncontrast Ct ◽

Work Up

Abstract Introduction There has been a recent increase in the incidence of adrenal incidentaloma (AI), defined as an adrenal mass that’s unintentionally discovered on imaging obtained for an indication other than suspected adrenal pathology, mainly because of increased availability and improved quality of imaging modalities. Differentiation based on malignant vs benign and secretory vs non secretory becomes the most important question on finding such mass. Another important question is long term follow up of these AI. We present a case that highlights the importance of follow up due to the potential of AI to increase in size and density over 3 year. Case A 58 years old male with a history of ESRD secondary to hypertension, controlled hypertension, CAD s/p CABG was seen for a right 1.9 cm AI (found in 11/2016 on noncontrast CT abdomen) with low attenuation of approximately 10 Hounsfield units (HU). He was asymptomatic, normal vitals, and an unremarkable physical exam. Hormonal work up was negative for hyperaldosteronism and Cushing syndrome. About 1 year later, repeat CT abdomen reported an unchanged right, 2.0 x 1.7 cm adrenal mass, 22 HU. Hormonal work-up was not completed and patient was lost to follow up. Two years later, repeat CT abdomen reported increase size of AI to 2.7 cm and increase in attenuation of 24 HU precontract which increased to 55 HU on the immediate postcontrast exam and 55 HU on 13-minute delayed images. Hormonal work up was negative for Cushing syndrome and hyperaldosteronism. Plasma metanephrine was 0.50 with elevated plasma normetanephrine of 3.85. In light of being a renal transplant patient and due to increase in size, change in HU, and significantly elevated normetanephrine levels patient was referred for right adrenalectomy. Discussion Change in adrenal mass size is known to be a significant predictor of malignant potential. An unenhanced attenuation value <10 HU is characteristic of a lipid-rich adenoma, can predict benign adrenal adenoma with 98% specificity, and has a very low likelihood of a pheochromocytoma. European Society of Endocrinology recommends if the AI is homogenous, < 4 cm, with a density ≤ 10 UH, no imaging follow up is recommended and biochemical testing for ruling out pheochromocytoma is indicated in adrenal tumors with an unenhanced attenuation value >10HU. However, the AACE/AAES guidelines recommends AI ≥ 1cm and less than 4cm, repeat imaging with noncontrast CT should be performed at 3–6 months and annually for 1-2 years and if the mass grows or becomes hormonally active then adrenalectomy should be performed. Conclusion There are no prospective studies of the optimal frequency and duration of follow up for AI. Considering the increasing incidence of AI, further studies on the clinical significance of change in HU, such as risk of developing pheochromocytoma, along with standardized international guidelines would be helpful for clinicians in managing patients with AI.

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Approach to the patient with adrenal incidentaloma

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/clinem/dgab512 ◽

2021 ◽

Author(s):

Irina Bancos ◽

Alessandro Prete

Keyword(s):

Adrenal Mass ◽

Young Patients ◽

Adrenal Incidentaloma ◽

Current Evidence ◽

Adrenal Tumors ◽

Cortisol Secretion ◽

Adrenal Incidentalomas ◽

Cross Sectional ◽

Imaging Characteristics ◽

Autonomous Cortisol Secretion

Abstract Adrenal tumors are commonly discovered incidentally, on cross-sectional abdominal imaging performed for reasons other than adrenal mass. Incidence of adrenal tumors increased 10-fold in the last two decades, with most diagnosed in older adults. In any patient with a newly discovered adrenal mass determining whether the adrenal mass is malignant and whether it is hormonally active is equally important to guide the best management. Malignancy is diagnosed in 5-8% of patients with adrenal tumors, with a higher risk in young patients, if history of extra-adrenal malignancy, in those with large adrenal tumors with indeterminate imaging characteristics, and in bilateral adrenal tumors. While overt hormone excess is uncommon in adrenal incidentalomas, mild autonomous cortisol secretion can be diagnosed in up to 30-50% of patients. As autonomous cortisol secretion is associated with increased cardiovascular morbidity and metabolic abnormalities, all patients with adrenal incidentalomas require work up with dexamethasone suppression test. Management of adrenal tumors varies based on etiology, associated comorbidities, and patient’s preference. This article reviews the current evidence on the diagnosis and evaluation of patients with adrenal mass and focuses on management of the most common etiologies of adrenal incidentalomas.

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Primary adrenal lymphoma in an HIV patient: a rare case of bilateral adrenal tumors

Endocrine Abstracts ◽

10.1530/endoabs.56.p97 ◽

2018 ◽

Author(s):

Maria Mavromati ◽

Olivier Nawej ◽

Olga Tsopra ◽

Heba Al-Alwan ◽

Francois Jornayvaz ◽

...

Keyword(s):

Rare Case ◽

Adrenal Tumors ◽

Primary Adrenal Lymphoma ◽

Adrenal Lymphoma ◽

Bilateral Adrenal Tumors

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Benign notochordal cell tumor of the clivus with chordoma component: report of 2 cases

Journal of Neurosurgery ◽

10.3171/2019.6.jns19529 ◽

2020 ◽

Vol 133 (5) ◽

pp. 1355-1359

Author(s):

Maria Peris-Celda ◽

Laura Salgado-Lopez ◽

Carrie Y. Inwards ◽

Aditya Raghunathan ◽

Carrie M. Carr ◽

...

Keyword(s):

Histological Analysis ◽

Cell Tumor ◽

Surgical Removal ◽

Anatomical Site ◽

Adjuvant Radiation ◽

Resonance Imaging ◽

Adjuvant Radiation Therapy ◽

Notochordal Cell ◽

Transsphenoidal Resection

Benign notochordal cell tumors (BNCTs) are considered to be benign intraosseous lesions of notochord origin; however, recent spine studies have suggested the possibility that some chordomas arise from BNCTs. Here, the authors describe two cases demonstrating histological features of BNCT and concomitant chordoma involving the clivus, which, to the best of the authors’ knowledge, have not been previously documented at this anatomical site.An 18-year-old female presented with an incidentally discovered clival mass. Magnetic resonance imaging revealed a 2.8-cm nonenhancing lesion in the upper clivus that was T2 hyperintense and T1 hypointense. She underwent an uneventful endoscopic transsphenoidal resection. Histologically, the tumor demonstrated areas of classic chordoma and a distinct intraosseous BNCT component. The patient completed adjuvant radiation therapy. Follow-up showed no recurrence at 18 months.A 39-year-old male presented with an incidentally discovered 2.8-cm clival lesion. The nonenhancing mass was T2 hyperintense and T1 hypointense. Surgical removal of the lesion was performed through an endoscopic transsphenoidal approach. Histological analysis revealed areas of BNCT with typical features of chordoma. Follow-up did not demonstrate recurrence at 4 years.These cases document histologically concomitant BNCT and chordoma involving the clivus, suggesting that the BNCT component may be a precursor of chordoma.

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