scholarly journals Pitfalls and progress in adrenocortical carcinoma diagnosis: the utility of a multidisciplinary approach, immunohistochemistry and genomics

2022 ◽  
Vol 2022 ◽  
Author(s):  
Ray Wang ◽  
Benjamin Solomon ◽  
Stephen J Luen ◽  
Owen W.J. Prall ◽  
Christine Khoo ◽  
...  
Keyword(s):  
Adrenocortical Carcinoma ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
List Type ◽  
Clinical Heterogeneity ◽  
Diagnostic Challenge ◽  
Diagnosis And Prognosis ◽  
Prognostic Utility ◽  
Rare Malignancy ◽  
Adrenocortical Carcinomas

Summary Adrenocortical carcinoma is a rare disease with poor prognosis whose clinical heterogeneity can at times present a challenge to accurate and timely diagnosis. We present the case of a patient who presented with extensive pulmonary lesions, mediastinal and hilar lymphadenopathy and an adrenal mass in whom the oncological diagnosis was initially uncertain. Through the use of immunohistochemistry, biochemistry and genomic testing, an accurate diagnosis of adrenocortical carcinoma was ultimately made which resulted in more directed treatment being administered. The use of multidisciplinary input and genomics to aid in diagnosis and prognosis of adrenocortical carcinoma is discussed. Learning points Adrenocortical carcinomas can present a diagnostic challenge to clinicians given it is a rare malignancy with significant clinical heterogeneity. Specialist multidisciplinary team input is vital in the diagnosis and management of adrenocortical carcinomas. Hormonal testing is recommended in the diagnostic workup of adrenal masses, even in the absence of overt clinical signs/symptoms of hormone excess. Immunostaining for the highly sensitive and specific steroidogenic factor-1 is vital for accurate diagnosis. Genomics can provide prognostic utility in management of adrenocortical carcinoma.

scholarly journals Testicular swelling leading to a diagnosis of adrenocortical carcinoma – co-incidence or causation?

2021 ◽  
Vol 2021 ◽  
Author(s):  
Maria Batool ◽  
David Fennell ◽  
David Slattery ◽  
Eamon Leen ◽  
Liam Cormican ◽  
...  
Keyword(s):  
Histological Examination ◽  
Adrenocortical Carcinoma ◽  
Steroid Hormone ◽  
Abdominal Mass ◽  
Resected Specimen ◽  
List Type ◽  
Caucasian Male ◽  
Potential Link ◽  
Rare Malignancy ◽  
Learning Points

Summary Adrenocortical carcinoma (ACC) is a rare malignancy with an incidence of 0.7–2.0 cases/million/year. A majority of patients present with steroid hormone excess or abdominal mass effects, and in 15% of patients ACC is discovered incidentally. We present a case of 30-year-old otherwise asymptomatic Caucasian male who presented with a testicular swelling. Subsequent imaging and investigations revealed disseminated sarcoidosis and an 11 cm adrenal lesion. An adrenalectomy was performed. Histological examination of the resected specimen confirmed an ACC and also demonstrated a thin rim of adrenal tissue containing non-caseating granulomas, consistent with adrenal sarcoid. Learning points This case highlights an unusual presentation of two uncommon diseases. This case also highlights how separate and potentially unrelated disease processes may occur concomitantly and the importance, therefore, of keeping an open mind when dealing with unusual diagnostic findings. We also hypothesize a potential link between the ACC and sarcoidosis in our patient.

scholarly journals Myxoinflammatory Fibroblastic Sarcoma: A Radiographical, Pathological, and Immunohistochemical Report of Rare Malignancy

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Michitaka Kato ◽  
Takuji Tanaka ◽  
Takatoshi Ohno
Keyword(s):  
Inflammatory Infiltrate ◽  
Accurate Diagnosis ◽  
Postoperative Radiation ◽  
Diagnostic Challenge ◽  
Postoperative Radiation Therapy ◽  
Inflammatory Conditions ◽  
Distinctive Morphology ◽  
Mixed Inflammatory Infiltrate ◽  
Rare Malignancy ◽  
Myxoinflammatory Fibroblastic Sarcoma

Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, painless, and intermediate (rarely metastasizing) fibroblastic tumor, which commonly occurs in the extremities, with an equal sex predilection. This sarcoma is composed of a mixed inflammatory infiltrate along with spindled, epithelioid, and bizarre tumor cells in a background of hyaline and myxoid areas. In spite of such a distinctive morphology, the tumor can be a diagnostic challenge, simulating inflammatory conditions as well as neoplastic nature. For accurate diagnosis, the tumor requires extensive clinical, radiological, and pathological investigations. We present a case of MIFS in a 19-year-old female who presented with a mass in the left ankle. After appropriate excision and postoperative radiation therapy, she is free of disease, including recurrence and metastasis, at 12 years postoperatively.

scholarly journals Pathological Findings in the Adrenal Glands of 80 Dogs

2018 ◽  
Vol 46 (1) ◽  
pp. 7
Author(s):  
Elisângela Olegário Da Silva ◽  
Giovana Wingeter Di Santis ◽  
Selwyn Arlington Headley ◽  
Ana Paula Frederico Rodrigues Loureiro Bracarense
Keyword(s):  
Adrenal Gland ◽  
Adrenocortical Carcinoma ◽  
Adrenal Glands ◽  
Clinical Signs ◽  
Adrenal Tumors ◽  
Endocrine Disorders ◽  
Adrenocortical Adenoma ◽  
Primary Tumors ◽  
Nodular Hyperplasia ◽  
Adrenocortical Carcinomas

Background: The adrenal glands development important endocrine functions and can be affected by primary or secondary diseases. These adrenal gland pathologies may induce clinical syndromes resulting from abnormalities in the production and secretion of hormones. Data about pathological changes in dogs are scarce. Therefore, the aim of the present study was to identify and evaluate the histopathological and epidemiological features of adrenal changes in dogs submitted to necropsy examination from 2005 to 2016 in a Veterinary Teaching Hospital, Londrina, Paraná, Brazil.Material, Methods & Results: During this period, 80 animals presented alterations of adrenal gland, representing 5.5% of all necropsied dogs. The pure breed dogs representing 58.6% and mixed breed 41.4%; 53.4% were female and 46.6% were male. The non-neoplastic adrenal lesions were more frequently (57.5%) compared to the neoplastic changes (42.5%). Most of the adrenal glands lesions occurred in older dogs (60%), following by the middle aged (31.25%) and young dogs (8.75%). The main non-neoplastic lesions observed in the adrenal glands were of hyperplastic (69.5%) and circulatory (26%) origin, among the earlier, 68.8% were diffuse hyperplasia and 31.2% nodular hyperplasia. The nodular hyperplasia was classified as micronodular multifocal in 40% of the glands with nodular hyperplasia, macronodular multifocal in 30%, micronodular diffuse in 20%, and micronodular focal in 10%. The neoplasms observed were adrenocortical adenoma (ACA) in 44.1%, pheochromocytomas in 23.5% and adrenocortical carcinomas (ACC) in 11.7% of the dogs with adrenal tumors. Metastasis from other primary tumors were observed in 20.6%.Discussion: The data in veterinary literature about the frequency of changes in adrenal gland of dogs are scarce and focus features of diagnosis by ultrasound examination. Most of the adrenal changes observed in the present study were incidental findings observed during the necropsy examination and no specific clinical signs were observed. Non-neoplastic adrenal lesions, mainly of hyperplastic origin, were more frequently observed compared to the neoplastic changes. Differing from previous studies, the diffuse hyperplasia was the most common non neoplastic finding in the adrenal glands. Considering the subclassification of nodular hyperplasia, the multifocal micronodular and macronodular multifocal pattern were the most frequent. In veterinary literature, there are no data about frequency of nodular hyperplastic subtypes. However, in humans the subclassification of nodular hyperplasia is associated to development of endocrine disorders. Previous studies reported lower incidence of neoplastic changes in adrenal gland of dogs compared to the present results. The adrenocortical adenoma was the most common primary tumor, followed by the adrenocortical carcinoma, pheochromocytoma and adrenocortical carcinoma. Congestion and hemorrhage were common findings observed in the adrenal gland primary tumors. On the other hand, necrosis and inflammatory infiltrate were observed only in the adrenocortical carcinomas. These histopathological features may be used as tool in the differential diagnosis between well differentiated adrenocortical carcinoma and adenoma. The histopathological examination was fundamental to differential and definitive diagnosis of all canine adrenal gland disorders observed.

scholarly journals Investigation of an EHV-1 Outbreak in the United States Caused by a New H752 Genotype

Pathogens ◽  
2021 ◽  
Vol 10 (6) ◽  
pp. 747
Author(s):  
Nicola Pusterla ◽  
Samantha Barnum ◽  
Julia Miller ◽  
Sarah Varnell ◽  
Barbara Dallap-Schaer ◽  
...  
Keyword(s):  
Early Stage ◽  
Clinical Signs ◽  
Amino Acid Position ◽  
High Viral Load ◽  
The United States ◽  
Neurological Deficits ◽  
Diagnostic Challenge ◽  
Genotype I ◽  
Flunixin Meglumine ◽  
Nasal Secretions

Here we report on an EHV-1 outbreak investigation caused by a novel genotype H752 (histidine in amino acid position 752 of the ORF 30 gene). The outbreak involved 31 performance horses. Horses were monitored over a period of 35 days for clinical signs, therapeutic outcome and qPCR results of EHV-1 in blood and nasal secretions. The morbidity of the EHV-1 outbreak was 84% with 26 clinically infected horses displaying fever and less frequently anorexia and distal limb edema. Four horses showed mild transient neurological deficits. Clinically diseased horses experienced high viral load of EHV-1 in blood and/or nasal secretions via qPCR, while subclinically infected horses had detectable EHV-1 mainly in nasal secretions. The majority of infected horses showed a rise in antibody titers to EHV-1 during the outbreak. All 31 horses were treated with valacyclovir, while clinically infected horses further received flunixin meglumine and sodium heparin. This investigation highlights various relevant aspects of an EHV-1 outbreak caused by a new H752 genotype: (i) importance of early detection of EHV-1 infection; (ii) diagnostic challenge to assess H752 genotype; (iii) apparent benefit of valacyclovir use in the early stage of the outbreak; and (iv) weekly testing of blood and nasal secretions by qPCR in order to monitor individual infection status and lift quarantine.

scholarly journals Poult Enteritis and Mortality Syndrome in Turkey Poults: Causes, Diagnosis and Preventive Measures

Animals ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 2063
Author(s):  
Awad A. Shehata ◽  
Shereen Basiouni ◽  
Reinhard Sting ◽  
Valerij Akimkin ◽  
Marc Hoferer ◽  
...  
Keyword(s):  
Preventive Measures ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
Economic Losses ◽  
Turkey Poults ◽  
Causative Agents ◽  
Enteric Disorders ◽  
And Control ◽  
Enteropathogenic Viruses ◽  
Poult Enteritis

Poult enteritis and mortality syndrome (PEMS) is one of the most significant problem affecting turkeys and continues to cause severe economic losses worldwide. Although the specific causes of PEMS remains unknown, this syndrome might involve an interaction between several causative agents such as enteropathogenic viruses (coronaviruses, rotavirus, astroviruses and adenoviruses) and bacteria and protozoa. Non-infectious causes such as feed and management are also interconnected factors. However, it is difficult to determine the specific cause of enteric disorders under field conditions. Additionally, similarities of clinical signs and lesions hamper the accurate diagnosis. The purpose of the present review is to discuss in detail the main viral possible causative agents of PEMS and challenges in diagnosis and control.

scholarly journals Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

2014 ◽  
Vol 100 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Glenda Sobey
Keyword(s):  
Genetic Basis ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
Connective Tissue Disorders ◽  
Internal Organs ◽  
Ehlers Danlos Syndrome ◽  
Starting Point ◽  
Life Threatening ◽  
Danlos Syndrome

The term Ehlers–Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis.

scholarly journals Diagnosis of Growing Pain in Bangladeshi Pediatric Population

2013 ◽  
Vol 5 (1) ◽  
pp. 46-48 ◽  
Author(s):  
Santosh Kumar Saha ◽  
Aditi Modak ◽  
Kamrunnahar Chowdhury ◽  
Md Saleh Uddin ◽  
Dilip Kumar Ghosh ◽  
...  
Keyword(s):  
Heart Disease ◽  
Rheumatic Fever ◽  
Pediatric Population ◽  
Accurate Diagnosis ◽  
Clinical Aspects ◽  
Limb Pain ◽  
Diagnostic Challenge ◽  
Growing Period ◽  
Frequent Site ◽  
Slow Growing

Background: Unexplained limb pain is a major diagnostic challenge. Parents become very much worried as their physician are not sure regarding accurate diagnosis of unexplained limb pain. Majority of the limb pain are due to Growing pain which can be diagnosed by using Standard Criteria. Objectives: The purpose of the present study was to see the clinical aspects of growing pain and to determine the causes of unexplained limb pain. Methodology: This study prospectively examined the presence of growing pain in a self reported population of children with limb pain of unexplained etiology attending National Center for Control of Rheumatic Fever and Heart Disease over the period of 6 months. Results: Total 57 children of 3-12 yrs of age were enrolled in this study and out of them 43(75.4%) were diagnosed as Growing Pain. Mean age of growing pain was 7.77(2.66). 19 children (44.2%) were male and 24 (55.8%) were female. Most frequent site of pain was calf (65.1%) and 95% cases pain occur at night. Growing Pain usually occur at slow growing period (86%) than rapid growing period (14%). Conclusion: Majority of unexplained limb pain are growing pain which is benign. DOI: http://dx.doi.org/10.3329/jssmc.v5i1.16251 J Shaheed Suhrawardy Med Coll, 2013;5(1):46-48

scholarly journals Adrenocortical carcinoma masquerading as pheochromocytoma: a histopathologic dilemma

2020 ◽  
Vol 2020 ◽  
Author(s):  
Impana Shetty ◽  
Sarah Fuller ◽  
Margarita Raygada ◽  
Maria J Merino ◽  
B J Thomas ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Differential Diagnosis ◽  
Lynch Syndrome ◽  
Adrenocortical Carcinoma ◽  
Renal Carcinoma ◽  
Thoracoscopic Surgery ◽  
Adrenal Adenoma ◽  
Wedge Resection ◽  
Genetic Profile ◽  
List Type

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: Making the diagnosis of ACC can be difficult as the differential diagnosis includes pheochromocytoma, adrenal adenoma, renal carcinoma, or hepatocellular carcinoma. Patients with Lynch Syndrome should undergo surveillance for ACC as there is evidence of an association between Lynch Syndrome and ACC. 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. 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.

scholarly journals Long-term low-dose ketoconazole treatment in bilateral macronodular adrenal hyperplasia

2014 ◽  
Vol 2014 ◽  
Author(s):  
Sophie Comte-Perret ◽  
Anne Zanchi ◽  
Fulgencio Gomez
Keyword(s):  
Medical Therapy ◽  
Cushing’S Syndrome ◽  
Clinical Signs ◽  
Cushing's Syndrome ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Benign Condition ◽  
Steroid Secretion ◽  
Free Cortisol

Summary Medical therapy for Cushing's syndrome due to bilateral macronodular adrenal hyperplasia (BMAH) is generally administered for a limited time before surgery. Aberrant receptors antagonists show inconsistent efficacy in the long run to prevent adrenalectomy. We present a patient with BMAH, treated for 10 years with low doses of ketoconazole to control cortisol secretion. A 48-year-old woman presented with headaches and hypertension. Investigations showed the following: no clinical signs of Cushing's syndrome; enlarged lobulated adrenals; normal creatinine, potassium, and aldosterone; normal urinary aldosterone and metanephrines; elevated urinary free cortisol and steroid metabolites; and suppressed plasma renin activity and ACTH. A screening protocol for aberrant adrenal receptors failed to show any illegitimate hormone dependence. Ketoconazole caused rapid normalisation of cortisol and ACTH that persists over 10 years on treatment, while adrenals show no change in shape or size. Ketoconazole decreases cortisol in patients with Cushing's syndrome, and may prevent adrenal overgrowth. Steroid secretion in BMAH is inefficient as compared with normal adrenals or secreting tumours and can be controlled with low, well-tolerated doses of ketoconazole, as an alternative to surgery. Learning points Enlarged, macronodular adrenals are often incidentally found during the investigation of hypertension in patients harboring BMAH. Although laboratory findings include low ACTH and elevated cortisol, the majority of patients do not display cushingoid features. Bilateral adrenalectomy, followed by life-long steroid replacement, is the usual treatment of this benign condition, and alternative medical therapy is sought. Therapy based on aberrant adrenal receptors gives disappointing results, and inhibitors of steroidogenesis are not always well tolerated. However, ketoconazole at low, well-tolerated doses appeared appropriate to control adrenal steroid secretion indefinitely, while preventing adrenal overgrowth. This treatment probably constitutes the most convenient long-term alternative to surgery.

scholarly journals Ultrasound with laparoscopy for the diagnosis of abdominal disorders in cattle

2021 ◽  
Vol 41 ◽  
Author(s):  
José Ricardo B. Silva ◽  
José Augusto B. Afonso ◽  
Carla L. Mendonça ◽  
Jobson Filipe P. Cajueiro ◽  
Juliana M. Alonso ◽  
...  
Keyword(s):  
Clinical Study ◽  
Clinical Laboratory ◽  
Abdominal Ultrasound ◽  
Accurate Diagnosis ◽  
Prospective Clinical Study ◽  
Focal Lesions ◽  
Diagnosis And Prognosis ◽  
Complete Blood Counts ◽  
The Right ◽  
Exploratory Laparoscopy

ABSTRACT: This study aimed to evaluate laparoscopy with abdominal ultrasound exams to establish accurate diagnosis and prognosis. The experimental design was a prospective clinical study. Nine adult crossbred bovines suffering from abdominal disorders were admitted to the cattle clinic for clinical examinations. Abdominal ultrasound was carried out, and complete blood counts were performed. Subsequently, exploratory laparoscopy was performed. After surgery (exploratory laparoscopy on the right or left side), animals with a severe prognosis or untreatable clinical condition were euthanised and necropsied. During laparoscopy, circumscribed reticuloperitonitis could not be detected, nor could other abnormalities in the cranioventral region of the abdomen previously observed on ultrasound and confirmed during necropsy. However, alterations due to peritoneal damage, such as adhesions, were observed dorsally in addition to alterations in macroscopic aspects of the peritoneal fluid. Exploratory standing laparoscopy through the paralumbar fossae may constitute a supplementary procedure for diagnosing abdominal disorders in cattle, but it is not suitable in cases of diseases characterised by focal lesions concentrated in the cranioventral region of the abdomen. When associated with clinical, laboratory, and ultrasound examinations, this technique may improve the accurate diagnosis and prognosis of abdominal disorders in cattle.

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