Error message

Deprecated function: The each() function is deprecated. This message will be suppressed on further calls in menu_set_active_trail() (line 2405 of /mnt/stor5-wc1-dfw1/644438/www.adrenaltumors.org/web/content/includes/menu.inc).

News & Updates

Subscribe to News & Updates feed News & Updates
NCBI: db=pubmed; Term=adrenal tumor
Updated: 5 days 4 hours ago

Epigenetic dysregulation in adrenocortical carcinoma, a systematic review of the literature.

Wed, 03/13/2019 - 18:47
Related Articles

Epigenetic dysregulation in adrenocortical carcinoma, a systematic review of the literature.

Mol Cell Endocrinol. 2018 07 05;469:77-84

Authors: Jonker PKC, Meyer VM, Kruijff S

Abstract
Adrenocortical carcinoma (ACC) is a rare and aggressive endocrine malignancy with a poor prognosis. Diagnosis and treatment of this tumor remains challenging. The Weiss score, the current gold standard for the histopathological diagnosis of ACC, lacks diagnostic accuracy of borderline tumors (Weiss score 2 or 3) and is subject to inter observer variability. Furthermore, adjuvant and palliative systemic therapy have limited effect and no proven overall survival benefit. A better insight in the molecular background of ACC might identify markers that improve diagnostic accuracy, predict treatment response or even provide novel therapeutic targets. This systematic review of the literature aims to provide an overview of alterations in DNA methylation, histone modifications and their potential clinical relevance in ACC.

PMID: 28830787 [PubMed - indexed for MEDLINE]

Sleep-Related Laryngeal Stridor in Opsoclonus Myoclonus Syndrome.

Wed, 03/13/2019 - 18:47
Related Articles

Sleep-Related Laryngeal Stridor in Opsoclonus Myoclonus Syndrome.

Pediatr Neurol. 2017 12;77:91

Authors: Mizuno T, Kumada S, Naito R

PMID: 28823798 [PubMed - indexed for MEDLINE]

Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome.

Wed, 03/13/2019 - 18:47
Related Articles

Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome.

Mol Cell Endocrinol. 2018 07 05;469:107-111

Authors: Settas N, Faucz FR, Stratakis CA

Abstract
In this report, we review the relationship between succinate dehydrogenase (SDH) deficiency and the epigenome, especially with regards to two clinical conditions. Carney triad (CT) is a very rare disease with synchronous or metachronous occurrence of at least three different tumor entities; gastric gastrointestinal stromal tumor (GIST), paraganglioma (PGL), and pulmonary chondroma. This condition affects mostly females and it is never inherited. Another disease that shares two of the tumor components of CT, namely GIST and PGL is the Carney-Stratakis syndrome (CSS) or dyad. CSS affects both genders during childhood and adolescence. We review herein the main clinical features and molecular mechanisms behind those two syndromes that share quite a bit of similarities, but one is non-hereditary (CT) whereas the other shows an autosomal-dominant, with incomplete penetrance, inheritance pattern (CSS). Both CT and CSS are caused by the deficiency of the succinate dehydrogenase (SDH) enzyme. The key difference between the two syndromes is the molecular mechanism that causes the SDH deficiency. Most cases of CT show down-regulation of SDH through site-specific hyper-methylation of the SDHC gene, whereas CSS cases carry inactivating germline mutations within one of the genes coding for the SDH subunits A, B, C, or D (SDHA, SDHB, SDHC, and SDHD). There is only partial overlap between the two conditions (there are a few patients with CT that have SDH subunit mutations) but both lead to increased methylation of the entire genome in the tumors associated with them. Other tumors (outside CT and CSS) that have SDH deficiency are associated with increased methylation of the entire genome, but only in CT there is site-specific methylation of the SDHC gene. These findings have implications for diagnostics and the treatment of patients with these, often metastatic tumors.

PMID: 28739378 [PubMed - indexed for MEDLINE]

Clinical utility of routine postoperative morning cortisol monitoring in detecting new hypothalamic-pituitary-adrenal axis insufficiency following endoscopic transsphenoidal surgery for sellar lesions.

Wed, 03/06/2019 - 16:46
Related Articles

Clinical utility of routine postoperative morning cortisol monitoring in detecting new hypothalamic-pituitary-adrenal axis insufficiency following endoscopic transsphenoidal surgery for sellar lesions.

J Neurosurg. 2019 Mar 01;:1-5

Authors: Jackanich A, Tavakol S, Strickland BA, Rutkowski M, Kamel D, Carmichael JD, Weiss M, Zada G

Abstract
OBJECTIVEHypothalamic-pituitary-adrenal (HPA) axis dysfunction is a well-documented complication of transsphenoidal craniotomy (TSC) for sellar lesions. The authors aimed to assess their multidisciplinary approach to the diagnosis and treatment of postoperative hypocortisolemia utilizing conservative screening methods.METHODSThe authors performed a retrospective review of 257 patients who underwent TSC for pituitary adenoma (PA) or Rathke cleft cyst (RCC) at the University of Southern California between 2012 and 2017. Patients with preoperative adrenal insufficiency, Cushing's disease, or < 3 months of postoperative follow-up were excluded. Patient demographics, pathology, tumor characteristics, and complications were recorded. Postoperative day 1 (POD1) morning serum cortisol was assessed in all patients. Hypocortisolemia on POD1 (serum cortisol < 5 μg/dl) prompted a 7 am cortisol level measurement on POD 2 (POD2). Clinical signs and symptoms of hypocortisolemia were consistently monitored. After two serum cortisol levels < 5 μg/dl, or one serum level < 5 μg/dl plus a high clinical suspicion for HPA dysfunction, high-risk patients received glucocorticoid supplementation.RESULTSData on 165 patients were included in the analysis; there were 101 women (61.2%) and 64 men (38.7%). Preoperative diagnoses included nonfunctional adenoma (n = 97, 58.7%), growth hormone-secreting adenoma (n = 37, 22.4%), RCC (n = 18, 10.9%), prolactinoma (n = 8, 4.8%), and other (n = 5, 3.0%). One hundred thirty-eight patients (63.0%) had either suprasellar extension or cavernous sinus invasion. POD1 hypocortisolemia was diagnosed in 8 patients (4.8%). Of these patients, 2 (1.2%) were clinically asymptomatic and had normalized POD2 cortisol levels. Six patients (3.6%) had clinical symptoms and POD2 cortisol levels confirming HPA axis deficiency. Of these 6 patients treated with early glucocorticoid replacement, 2 patients recovered HPA axis function during follow-up, making the incidence of new, permanent HPA axis deficiency 2.5%.CONCLUSIONSIn the authors' institutional review, all patients warranting postoperative glucocorticoid replacement had both complicated surgical courses and associated clinical symptoms of hypocortisolemia. The authors' algorithm of withholding steroids until patients demonstrate clear evidence of postoperative hypocortisolemia is safe and clinically efficacious. Their data further suggest that routine postoperative cortisol screening may not be necessary following an uncomplicated operative resection, with gland preservation and the absence of clinical symptoms indicative of HPA dysfunction.

PMID: 30835697 [PubMed - as supplied by publisher]

Multimodality imaging of paragangliomas of the head and neck.

Wed, 03/06/2019 - 16:46
Related Articles

Multimodality imaging of paragangliomas of the head and neck.

Insights Imaging. 2019 Mar 04;10(1):29

Authors: Thelen J, Bhatt AA

Abstract
Paragangliomas arise from paraganglion cells which serve varied regulatory tasks in the body. When these cells demonstrate neoplasia within the head and neck, they typically present in characteristic locations including the carotid space, the jugular foramen, the middle ear, and along the course of the vagus nerve. The goal of this article is to review the relevant anatomy related to head and neck paragangliomas, as well as their typical imaging characteristics on cross-sectional imaging including CT, MR, ultrasound, and nuclear medicine studies. Additionally, differential considerations, as well as relevant involvement of adjacent structures which should be conveyed to the clinician, will be discussed.

PMID: 30830483 [PubMed]

Primary Adrenal Angiomatoid Fibrous Histiocytoma With Novel EWSR1-ATF1 Gene Fusion Exon-Exon Breakpoint.

Wed, 03/06/2019 - 16:46
Related Articles

Primary Adrenal Angiomatoid Fibrous Histiocytoma With Novel EWSR1-ATF1 Gene Fusion Exon-Exon Breakpoint.

Pediatr Dev Pathol. 2019 Mar 01;:1093526619830287

Authors: Khan IS, Kuick CH, Jain S, Wen Quan Lian D, Hong Pheng Loh A, Tan AM, Tou-En Chang K

Abstract
We describe the clinical, pathological, and molecular features of a primary adrenal angiomatoid fibrous histiocytoma (AFH) in an 11-year-old girl presenting with pyrexia of unknown origin. We performed next-generation sequencing-based anchored multiplex polymerase chain reaction (Archer® FusionPlex® sarcoma assay), which revealed an EWSR1-ATF1 gene fusion with novel breakpoints in exon 11 of EWSR1 and exon 3 of ATF1. The pyrexia resolved fully after surgical resection, and the patient was disease-free on follow-up at 1 year and 6 months. This case exemplifies the value of molecular testing of pediatric neoplasms presenting at unusual sites for diagnosis and identification of novel gene fusion breakpoints.

PMID: 30823861 [PubMed - as supplied by publisher]

Impact of 123 I-MIBG scintigraphy on clinical decision making in pheochromocytoma and paraganglioma.

Wed, 03/06/2019 - 16:46
Related Articles

Impact of 123 I-MIBG scintigraphy on clinical decision making in pheochromocytoma and paraganglioma.

J Clin Endocrinol Metab. 2019 Mar 01;:

Authors: Rao D, van Berkel A, Piscaer I, Young WF, Gruber L, Deutschbein T, Fassnacht M, Beuschlein F, Spyroglou A, Prejbisz A, Hanus K, Eisenhofer G, Manelli M, Canu L, Lenders JWM, Bancos I, Timmers HJLM

Abstract
CONTEXT: Cross sectional imaging with computed tomography (CT) or magnetic resonance imaging (MRI) is regarded as a first-choice modality for tumor localization in patients with pheochromocytoma and paraganglioma (PPGL). 123I-labeled metaiodobenzylguanidine (123I-MIBG) is widely used for functional imaging but the added diagnostic value is controversial.
OBJECTIVE: To establish the virtual impact of adding 123I-MIBG scintigraphy to CT or MRI on diagnosis and treatment of PPGL.
DESIGN: International multicenter retrospective study.
INTERVENTION: None.
PATIENTS: 236 unilateral adrenal, 18 bilateral adrenal, 48 unifocal extra-adrenal, 12 multifocal and 26 metastatic PPGL.
MAIN OUTCOME MEASURES: Patients underwent both anatomical imaging (CT and/or MRI) and 123I-MIBG scintigraphy. Local imaging reports were analyzed centrally by two independent observers who were blinded to the diagnosis. Imaging-based diagnoses determined by CT/MRI only, 123I-MIBG only, and CT/MRI combined with 123I-MIBG scintigraphy were compared with the correct diagnoses.
RESULTS: The rates of correct imaging-based diagnoses determined by CT/MRI only versus CT/MRI plus 123I-MIBG scintigraphy were similar: 89.4 versus 88.8%, respectively, (P=0.50). Adding 123I-MIBG scintigraphy to CT/MRI resulted in a correct change in the imaging-based diagnosis and ensuing virtual treatment in four cases (1.2%: two metastatic instead of non-metastatic, one multifocal instead of single, one unilateral instead of bilateral adrenal) at the cost of an incorrect change in seven cases (2.1%: four metastatic instead of non-metastatic, two multifocal instead of unifocal and one bilateral instead of unilateral adrenal).
CONCLUSIONS: For the initial localization of PPGL, the addition of 123I-MIBG scintigraphy to CT/MRI rarely improves the diagnostic accuracy at the cost of incorrect interpretation in others, even when 123I-MIBG scintigraphy is restricted to patients who are at risk for metastatic disease. In this setting, the impact of 123I-MIBG scintigraphy on clinical decision-making appears very limited.

PMID: 30822354 [PubMed - as supplied by publisher]

Expression profiles analysis identifies the values of carcinogenesis and the prognostic prediction of three genes in adrenocortical carcinoma.

Wed, 03/06/2019 - 16:46
Related Articles

Expression profiles analysis identifies the values of carcinogenesis and the prognostic prediction of three genes in adrenocortical carcinoma.

Oncol Rep. 2019 Feb 19;:

Authors: Gao Z, Man X, Li Z, Bi J, Liu X, Li Z, Zhu Y, Zhang Z, Kong C

Abstract
Adrenocortical carcinoma (ACC) is a rare disease associated with a poor prognosis. Furthermore, the underlying molecular mechanism of carcinogenesis is poorly understood, and prognostic prediction of ACC has low accuracy. In the present study, a bioinformatics approach was used to investigate the molecular mechanisms and prognosis of ACC. Samples of adrenal tumors were collected from patients undergoing adrenalectomy at the Department of Urology, the First Hospital of China Medical University. The analyzed gene datasets were downloaded from the Gene Expression Omnibus and The Cancer Genome Atlas (TCGA) database. Following this, the differentially expressed genes (DEGs) were included in Gene Ontology enrichment, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway, protein‑protein interaction network and survival analyses. MTT colorimetric assays, colony formation assays and 5‑ethynyl‑20‑deoxyuridine incorporation assays were also conducted to evaluate ACC cell proliferation. The identified DEGs included 20 downregulated genes and 51 upregulated genes, which were highly associated with the cell cycle, organelle fission, chromosome segregation, cell division and spindle stability. The top 14 hub genes were subsequently confirmed by reverse transcription‑quantitative polymerase chain reaction in ACC and adrenocortical adenoma samples. It was identified that the nuclear division cycle 80, cyclin B2 and topoisomerase 2‑α may serve important roles in adrenocortical tumor development. Furthermore, these three genes predicted overall survival and recurrence‑free survival in patients with ACC from the TCGA cohort. The findings identified three novel genes that have important roles in carcinogenesis and in the prognostic prediction of ACC.

PMID: 30816525 [PubMed - as supplied by publisher]

A case report on 111In chloride bone marrow scintigraphy in management of adrenal myelolipoma.

Wed, 03/06/2019 - 16:46
Related Articles

A case report on 111In chloride bone marrow scintigraphy in management of adrenal myelolipoma.

Medicine (Baltimore). 2019 Feb;98(8):e14625

Authors: Yamamoto T, Koizumi M, Kohno A, Numao N, Inamura K

Abstract
RATIONALE: Adrenal myelolipoma is a benign hormone-inactive tumor composed of hematopoietic tissue and mature adipose tissue. Because this tumor tends to be rich in fat, in many cases it can be diagnosed based on computed tomography (CT) or magnetic resonance imaging (MRI) findings alone. However, in the presence of much necrosis, calcification and hematopoietic tissue and/or the absence of much fat, and in cases with tumor apoplexy, this tumor becomes difficult to differentiate from other tumors. In such cases, a bone marrow scan may be informative as a non-invasive imaging diagnostic method for preoperative diagnosis of the tumor and determination of the method for the surgical treatment. We herein report a case of huge adrenal myelolipoma with the non-adipose portion identified using an Indium chloride (InCl3) bone marrow scan.
PATIENT CONCERNS: A 69-year-old woman was referred to our hospital because of a left peritoneal mass detected on a medical checkup. Abdominal CT revealed a mass measuring 14.3 cm in diameter located between the left kidney and the left adrenal gland, which showed coexistence of fat and soft tissue densities.
DIAGNOSES: A bone marrow scan is a nuclear medicine examination to assess hematopoietic activity. To avoid excessive resection of the tumor, we thought that a bone marrow scan could be applied for differentiation between myelolipoma and retroperitoneal liposarcoma by evaluating the hematopoietic activity of the tumor. Tumor enucleation was performed, and pathological examination showed a diagnosis of adrenal myelolipoma.
INTERVENTION: The patient was treated with laparoscopic enucleation.
OUTCOMES: No metastatic recurrence was found during 8 months of follow-up.
LESSONS: Diagnosis of myelolipoma by CT and MRI becomes difficult in the presence of a high volume of hematopoietic tissue. In such cases, a bone marrow scan may be informative as a non-invasive imaging diagnostic method for preoperative diagnosis of the tumor and determination of the method of surgical treatment.

PMID: 30813194 [PubMed - in process]

Clinical profiles of patients with surgically resected pheochromocytoma and paraganglioma.

Wed, 03/06/2019 - 16:46
Related Articles

Clinical profiles of patients with surgically resected pheochromocytoma and paraganglioma.

Korean J Intern Med. 2019 Feb 28;:

Authors: Lee SH, Park JH, Lee JY, Lee SR, Rhee KS, Chae JK, Kim WH, Sul JY, Oh JK, Kwon HJ, Lee JH, Seong IW

Abstract
Background/Aims: Pheochromocytoma and paraganglioma (PPGL) are catecholamine-producing tumors that can cause blood pressure (BP) elevation and cardiovascular complications. Clinical presentation of these tumors may be changed through widespread use of imaging studies, which enables detection of PPGLs before onset of symptoms. We investigated clinical profiles of patients with surgically resected PPGLs.
Methods: From 2005 to 2017, 111 consecutive patients with surgically resected PPGLs in two tertiary hospitals in Korea were studied.
Results: Mean age was 52 ± 16 years, 57 patients (51.4%) were male and 54 (48.6%) were hypertensive. Twenty-nine PPGLs (26.1%) were extra-adrenal paragangliomas. Sixteen (14.4%) and seven patients (6.3%) (Group 1, n = 23) were diagnosed during work-up of hypertension and transient cardiomyopathy respectively, and the remainder (Group 2, n = 88) were incidentalomas detected during routine abdominal imaging. Patients in the Group 1 were younger and more frequently symptomatic, and had higher BPs, heart rates and levels of urinary catecholamines than those in the Group 2. Paragangliomas were less frequent and secretion of epinephrine and metanephrine was more predominant in the Group 1 than in Group 2. After the surgical resections, 18.2% of patients still needed antihypertensive medications.
Conclusions: Out of 111 patients with surgically resected PPGLs, 88 (79.3%) were diagnosed as incidentalomas. Seven patients presented with transient cardiomyopathy and 16 with hypertension. Tumor location and secretion of catecholamine may vary depending on the presence of symptoms.

PMID: 30808127 [PubMed - as supplied by publisher]

Ruptured Abdominal Aortic Aneurysm with a Suprarenal Tumor.

Wed, 03/06/2019 - 16:46
Related Articles

Ruptured Abdominal Aortic Aneurysm with a Suprarenal Tumor.

Braz J Cardiovasc Surg. 2018 Sep-Oct;33(5):522-524

Authors: Arıkan AA

Abstract
This paper presents a case study of a patient that underwent surgery for a ruptured abdominal aneurysm. The postoperative course was complicated by resistant hypertension and tachycardia. A suprarenal mass was detected in the computed tomography scan with radiological suspicion of pheochromocytoma. Few cases of pheochromocytoma coexisting with aneurysms have been reported. Management of cardiovascular stability is crucial in such cases. Despite the lack of evidence, pheochromocytomas might have a role in the etiology of aortic aneurysms.

PMID: 30517262 [PubMed - indexed for MEDLINE]

Leptomeningeal carcinomatosis as primary presentation of metastatic urothelial cancer.

Wed, 03/06/2019 - 16:46
Related Articles

Leptomeningeal carcinomatosis as primary presentation of metastatic urothelial cancer.

BMJ Case Rep. 2018 Nov 08;2018:

Authors: Lambird J, Beerepoot L

Abstract
Leptomeningeal spread of carcinoma, referred to here as leptomeningeal carcinomatosis, is an uncommon complication of many cancer types. Its manifestations as the presenting symptoms of a new cancer diagnosis is even less common. This case describes the manifestations of leptomeningeal spread of urothelial carcinoma with review of pathophysiology driving the presenting symptoms of hypertension and headache. In the Discussion section, we address the standard and novel interventions for management of increased intracranial pressure.

PMID: 30413436 [PubMed - indexed for MEDLINE]

Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years.

Wed, 03/06/2019 - 16:46
Related Articles

Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years.

J Pediatr. 2018 12;203:447-449

Authors: Makri A, Akshintala S, Derse-Anthony C, Widemann B, Stratakis CA, Glod J, Lodish M

Abstract
We describe the presenting symptoms and signs of multiple endocrine neoplasia type 2B in a cohort of children. Improved awareness of the early nonendocrine signs of multiple endocrine neoplasia type 2B could lead to earlier diagnosis before the development of medullary thyroid cancer and possibly its metastasis.

PMID: 30314660 [PubMed - indexed for MEDLINE]

[Germline gene testing of the RET, VHL, SDHD and SDHB genes in patients with pheochromocytoma/paraganglioma].

Wed, 03/06/2019 - 16:46
Related Articles

[Germline gene testing of the RET, VHL, SDHD and SDHB genes in patients with pheochromocytoma/paraganglioma].

Beijing Da Xue Xue Bao Yi Xue Ban. 2018 Aug 18;50(4):634-639

Authors: Wu K, Zhang Y, Zhang H, Tan ZH, Guo XH, Yang JM

Abstract
OBJECTIVE: To analyze the germline variations of genes RET, VHL, SDHD and SDHB in patients with pheochromocytoma and/or paraganglioma and to evaluate variations of these genes in Chinese patients.
METHODS: Patients who were treated in Peking University First Hospital from September 2012 to March 2014 and diagnosed with pheochromocytoma and/or paraganglioma by pathologists were included in this study. Twelve patients were included in total, of whom 11 had pheochromocytoma, and 1 had paraganglioma. Deoxyribonucleic acid (DNA) was extracted from the leukocytes of peripheral blood of the patients. The exons 10, 11, 13-16 of the RET gene, and all exons of VHL, SDHB and SDHD genes and their nearby introns (±20 bp) were amplified with polymerase chain reactions, and the products were sent to a biotechnology company for sequencing. The sequencing results were compared with wildtype sequences of these genes to identify variations. One of the patients was diagnosed with multiple endocrine neoplasia type 2A. A family analysis was performed in his kindred, and his family members received genetic tests for the related variations.
RESULTS: Three patients were found to have germline gene variations. A c.136C>T (p.R46X) variation of the SDHB gene was found in a patient with malignant pheochromocytoma. A c.1901G>A (C634Y) variation, as well as c.2071G>A (p.G691S) and c.2712C>G (p.S904S) variations of the RET gene were found in a patient with multiple endocrine neoplasia type 2A. After a family analysis, five family members of this patient were found to have the same variations. c.2071G>A (p.G691S) and c.2712C>G (p.S904S) variations of the RET gene were also found in a clinical sporadic patient without evidence of malignancy. A patient with congenital single ventricle malformation and pheochromocytoma was included in this study, and no variation with clinical significance was found in the four genes of this patient.
CONCLUSION: 25% (3/12) patients with pheochromocytoma or paraganglioma were found to have missense or nonsense germline gene variations in this study, including the c.136C>T (p.R46X) variation of the SDHB gene, the c.1901G>A (C634Y) variation of the RET gene, and c.2071G>A (p.G691S) and c.2712C>G (p.S904S) variations of the RET gene. The former two variations have already been confirmed to be pathogenic. The existence of these variations in Chinese patients with pheochromocytoma and/or paraganglioma was validated in this study, which supports the conclusion that genetic testing is necessary to be generally performed in patients with pheochromocytoma and/or paraganglioma.

PMID: 30122763 [PubMed - indexed for MEDLINE]

Isolated adrenocorticotropic hormone deficiency as a form of paraneoplastic syndrome.

Wed, 03/06/2019 - 16:46
Related Articles

Isolated adrenocorticotropic hormone deficiency as a form of paraneoplastic syndrome.

Pituitary. 2018 Oct;21(5):480-489

Authors: Bando H, Iguchi G, Kanie K, Nishizawa H, Matsumoto R, Fujita Y, Odake Y, Yoshida K, Suda K, Fukuoka H, Tanaka K, Ogawa W, Takahashi Y

Abstract
PURPOSE: In isolated adrenocorticoropic hormone (ACTH) deficiency (IAD), autoimmunity against corticotrophs has been suggested; however, the pathogenesis remains largely unknown. Large cell neuroendocrine carcinoma (LCNEC) of the lung is a pulmonary tumor of high-grade malignant neuroendocrine tumor and it reportedly caused paraneoplastic syndrome by autoimmunity in several cases.
METHODS: A 42-year-old woman with isolated adrenocorticotropic (ACTH) hormone deficiency (IAD) was diagnosed with large cell neuroendocrine carcinoma (LCNEC) 3 years after being diagnosed with IAD. We hypothesized that the LCNEC played a causal role in the development of IAD as a paraneoplastic syndrome and analyzed the autoimmunity. We also analyzed another case of ectopic ACTH syndrome to prove this hypothesis.
RESULTS: The LCNEC tissue revealed an ectopic ACTH expression and lymphocyte infiltration. Interestingly, autoantibody against the proopiomelanocortin (POMC) protein was detected in the peripheral blood. Although, patient's serum did not show any effects on cell viability, proliferation, nor pomc expression in a corticotroph cell line, AtT20 cells, patient's lymphocytes in the peripheral blood specifically reacted toward POMC protein, indicating a presence of cytotoxic T lymphocytes (CTLs). In addition, the analysis of another case of ectopic ACTH syndrome showed lymphocyte infiltration not only in the metastatic liver tumors but also in the pituitary. Moreover, most CD8-positive cells resided adjacent to corticotrophs.
CONCLUSIONS: These data indicate that the ectopic ACTH expression in the tumor evoked the autoimmunity to corticotrophs and caused IAD as a form of paraneoplastic syndrome.

PMID: 30008158 [PubMed - indexed for MEDLINE]

Radiation Therapy to Sites of Metastatic Disease as Part of Consolidation in High-Risk Neuroblastoma: Can Long-term Control Be Achieved?

Wed, 03/06/2019 - 16:46
Related Articles

Radiation Therapy to Sites of Metastatic Disease as Part of Consolidation in High-Risk Neuroblastoma: Can Long-term Control Be Achieved?

Int J Radiat Oncol Biol Phys. 2018 04 01;100(5):1204-1209

Authors: Casey DL, Pitter KL, Kushner BH, Cheung NV, Modak S, LaQuaglia MP, Wolden SL

Abstract
PURPOSE: As part of consolidative therapy in high-risk neuroblastoma, modern protocols recommend radiation therapy (RT) both to the primary site and to sites of metastatic disease that persist after induction chemotherapy. Although there are abundant data showing excellent local control (LC) with 21 Gy directed at the primary site, there are few data describing the feasibility and efficacy of RT directed at metastatic sites of disease as part of consolidation.
METHODS AND MATERIALS: All patients with neuroblastoma who received RT to metastatic sites of disease as a part of consolidative therapy at a single institution between 2000 and 2015 were reviewed. Among 159 patients, 244 metastases were irradiated.
RESULTS: The median follow-up period among surviving patients was 7.4 years. Over 85% of the irradiated metastases were treated with 21 Gy (range, 10.5-36 Gy). Tumor recurrence occurred in 43 of 244 irradiated metastases (18%). The 5-year LC rate of treated metastatic sites was 81%. Metastatic sites that cleared with induction chemotherapy had improved LC compared with sites with persistent uptake on metaiodobenzylguanidine scans (LC rate, 92% vs 67%; P < .0001). LC at irradiated metastatic sites did not differ based on total number of sites irradiated or site of disease irradiated (bone vs soft tissue). Patients with bulky, resistant disease who were treated with 30 to 36 Gy had worse LC (P = .02). However, on multivariate analysis, only persistence after induction chemotherapy remained a significant prognostic factor for LC (hazard ratio, 3.7; P < .0001). Patients who had LC at irradiated metastatic sites had improved overall survival compared with those who did not (overall survival rate, 71% vs 50%; P < .0001).
CONCLUSIONS: Response to chemotherapy is an important prognostic factor for LC at irradiated metastatic sites in neuroblastoma. Overall, consolidative RT appears to be an effective modality of LC. Long-term disease control can be achieved with such an approach.

PMID: 29439882 [PubMed - indexed for MEDLINE]

Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma.

Wed, 03/06/2019 - 16:46
Related Articles

Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma.

Endocr Relat Cancer. 2018 03;25(3):L13-L17

Authors: Garinet S, Nectoux J, Neou M, Pasmant E, Jouinot A, Sibony M, Orhant L, Pipoli da Fonseca J, Perlemoine K, Bricaire L, Groussin L, Soubrane O, Dousset B, Libe R, Letourneur F, Bertherat J, Assié G

PMID: 29212777 [PubMed - indexed for MEDLINE]

Misdiagnosis of a hidden cause of hypertension: a case report.

Wed, 03/06/2019 - 16:46
Related Articles

Misdiagnosis of a hidden cause of hypertension: a case report.

Br J Gen Pract. 2017 12;67(665):578-579

Authors: de Lima A, El-Sharkawy F, Nieroda C, Sardi A

PMID: 29192119 [PubMed - indexed for MEDLINE]

Adrenal androgens rescue prostatic dihydrotestosterone production and growth of prostate cancer cells after castration.

Wed, 02/27/2019 - 16:28
Related Articles

Adrenal androgens rescue prostatic dihydrotestosterone production and growth of prostate cancer cells after castration.

Mol Cell Endocrinol. 2019 Feb 23;:

Authors: Wu Y, Tang L, Azabdaftari G, Pop E, Smith GJ

Abstract
Adrenal androgens dehydroepiandrosterone (DHEA) and DHEA-sulfate (DHEAS) are potential substrates for intracrine production of testosterone (T) and dihydrotestosterone (DHT), or directly to DHT, by prostate cancer (PCa) cells. Production of DHT from DHEAS and DHEA, and the role of steroid sulfatase (STS), were evaluated ex vivo using fresh human prostate tissue and in vitro using human PCa cell lines. STS was expressed in benign prostate tissue and PCa tissue. DHEAS at a physiological concentration was converted to DHT in prostate tissue and PCa cell lines, which was STS-dependent. DHEAS activation of androgen receptor (AR) and stimulation of PCa cell growth were STS-dependent. DHEA at a physiological concentration was not converted to DHT ex vivo and in vitro, but stimulated in vivo tumor growth of the human PCa cell line, VCaP, in castrated mice. The findings suggest that targeting metabolism of DHEAS and DHEA may enhance androgen deprivation therapy.

PMID: 30807787 [PubMed - as supplied by publisher]

A unique case of ectopic Cushing's syndrome from a thymic neuroendocrine carcinoma.

Wed, 02/27/2019 - 16:28
Related Articles

A unique case of ectopic Cushing's syndrome from a thymic neuroendocrine carcinoma.

Endocrinol Diabetes Metab Case Rep. 2019 Feb 22;2019:

Authors: Lawrence L, Zhang P, Choi H, Ahmad U, Arrossi V, Purysko A, Makin V

Abstract
Ectopic adrenocorticotropic hormone (ACTH) production leading to ectopic ACTH syndrome accounts for a small proportion of all Cushing's syndrome (CS) cases. Thymic neuroendocrine tumors are rare neoplasms that may secrete ACTH leading to rapid development of hypercortisolism causing electrolyte and metabolic abnormalities, uncontrolled hypertension and an increased risk for opportunistic infections. We present a unique case of a patient who presented with a mediastinal mass, revealed to be an ACTH-secreting thymic neuroendocrine tumor (NET) causing ectopic CS. As the diagnosis of CS from ectopic ACTH syndrome (EAS) remains challenging, we emphasize the necessity for high clinical suspicion in the appropriate setting, concordance between biochemical, imaging and pathology findings, along with continued vigilant monitoring for recurrence after definitive treatment. Learning points: Functional thymic neuroendocrine tumors are exceedingly rare. Ectopic Cushing's syndrome secondary to thymic neuroendocrine tumors secreting ACTH present with features of hypercortisolism including electrolyte and metabolic abnormalities, uncontrolled hypertension and hyperglycemia, and opportunistic infections. The ability to undergo surgery and completeness of resection are the strongest prognostic factors for improved overall survival; however, the recurrence rate remains high. A high degree of initial clinical suspicion followed by vigilant monitoring is required for patients with this challenging disease.

PMID: 30802210 [PubMed - as supplied by publisher]

Pages