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Fulltext An audit of management of patients with borderline increased plasma-free metanephrines

Anas SS, Vasikaran SD

Ann. Clin. Biochem., 2010 Nov;47(Pt 6):554-8.
PMID: 20926470 DOI: 10.1258/acb.2010.010131

BACKGROUND: Measurement of plasma-free metanephrine plus normetanephrine (PFM) is the best screening test for phaeochromocytoma. While clearly raised levels are diagnostic, borderline increases may be associated with factors such as stress and medications, and should prompt a repeat study after interfering factors are withdrawn.
METHODS: PFM results reported by a teaching hospital laboratory over a 12-month period were extracted from the laboratory information system. All borderline raised results were examined for a subsequent repeat test (as recommended by attached interpretative comment) and those not repeated were followed up by examination of case-notes or questionnaires to doctors.
RESULTS: Of 111 patients with borderline increased PFM which did not normalize on repeat measurement, 33 were from the hospital and 78 from outside locations. Hospital notes for 27 out of 33 hospital-patients (82%) could be reviewed, and 49 completed questionnaires (63% of 78 sent out) were received from outside locations. Of these 76 patients thus followed up, the test was not repeated in 55 (72%) cases with borderline increased PFM. Of 10 patients with an adrenal mass and borderline PFM, only three had PFM repeated. Of another nine patients with undetermined final diagnosis and borderline PFM, only three had the test repeated.
CONCLUSION: Seventy-two per cent of borderline increased PFM results were not followed up with appropriate repeat testing, potentially leading to missed detection of phaeochromocytoma. A stronger interpretative comment may encourage appropriate repeat testing in more cases with borderline increased PFM and suspected phaeochromocytoma.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis
Screening for phaeochromocytoma in patients with acute cerebrovascular disease: Is it necessary?

Mohamed Zainuddin N, Sthaneshwar P, Ratnasingam J

Malays J Pathol, 2020 Aug;42(2):203-207.
PMID: 32860372

INTRODUCTION: Phaeochromocytoma may present with uncontrolled hypertension leading to haemorrhagic stroke (HS), ischaemic stroke (IS) and transient ischaemic attack (TIA). False elevation in the levels of CATS/ METS has been reported in acute cerebrovascular disease. Our aim was to analyse the frequency and pattern of elevations of CATS/METS in patients with acute cerebrovascular disease and to determine associated factors.
MATERIALS AND METHODS: This is a retrospective study of 112 samples of CATS/ METS received by the laboratory over a two-year period, from patients with acute cerebrovascular disease. CATS/METS were measured using LC/MS/MS method. Clinical details and CATS/METS level were obtained from the database. Mann-Whitney U test and Kruskal Wallis test were used for statistical analysis. These statistical analyses were performed using SPSS v.20.0 (IBM Corp., Armonk, NY, USA).
RESULTS: Of the 112 patients, 39% had HS, 54% had IS and 7% had TIA. A total of 29% of patients had elevated CATS/ METS. Elevated levels of CATS/METS were noted in 41% and 25% of HS and IS patients, respectively (p=0.53). Median norepinephrine, epinephrine and metanephrine levels in HS were significantly higher than IS (p< 0.05). Systolic blood pressure was higher in those who had elevated CATS/ METS (p=0.04). Only for two patients with elevated CATS/METS repeat testing was performed. Age, diastolic blood pressure and the time of sample collection in relation to the presentation, for CATS/METS were not significantly different between groups that had elevated levels of CATS/ METS versus those who did not.
CONCLUSION: We noted that CATS/METS were elevated in one-third of patients, especially in patients with high systolic blood pressure. Increase in CATS/METS should be appropriately followed up with repeat testing. Since false elevation in CATS/METS has been reported in cerebrovascular disease, screening for phaeochromocytoma is best deferred for a month.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis
The challenge of improving the diagnostic yield from metanephrine testing in suspected phaeochromocytoma and paraganglioma

Samsudin I, Page MM, Hoad K, Chubb P, Gillett M, Glendenning P, et al.

Ann. Clin. Biochem., 2018 Nov;55(6):679-684.
PMID: 29660998 DOI: 10.1177/0004563218774590

Background Plasma-free metanephrines (PFM) or urinary fractionated metanephrines (UFM) are the preferred biochemical tests for the diagnosis of phaeochromocytoma and paraganglioma (PPGL). Borderline increased results should be followed up to either exclude or confirm diagnosis. Methods We extracted all PFM and UFM results reported by our laboratory over a six-month period from the laboratory information system. We categorized patients with borderline increased results according to whether follow-up testing had been performed as suggested in the initial laboratory report. Questionnaires were then sent to all requesting doctors and medical notes reviewed where available. Results Two hundred and four patients with borderline increased PFM or UFM were identified. Sixty-five (38.5%) of 169 patients with borderline increased PFM had a repeat test out of which 36 were normal and 29 did not normalize. Of 35 patients with borderline increased UFM, 17 (48.6%) had subsequent PFM measurement, out of which 15 were normal. Questionnaires were returned to 106 (52%) patients. Of these, the most frequent indication for testing was hypertension ( n = 50); 15 patients had an incidental adrenal mass and two of these patients were diagnosed with a phaeochromocytoma. Conclusion Only 38% of patients with borderline increased PFM had a repeat PFM measurement. This was not significantly higher when compared with the 28% in a previous audit that we reported in 2010 ( P = 0.10). Forty-nine per cent of patients with a borderline increased UFM had a repeat UFM or PFM measurement. There remains a substantial possibility of missed detection of PPGL.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis*
Fulltext A rare case of Von Hippel Lindau disease

Abdul Ghani R, Norazmi MK, Norlaila M

Med J Malaysia, 2006 Jun;61(2):254-7.
PMID: 16898326 MyJurnal

Pheochromocytoma is a rare catecholamine-secreting tumour typically arising within the adrenal medulla. It may occur sporadically or be associated as part of a tumour syndrome including Von Hippel Lindau (VHL), Multiple Endocrine Neoplasia (MEN) 2 and Neurofibromatosis Type 1. VHL is associated with multi-organ involvement of benign and malignant tumours characterized by the presence of retinal angiomas, hemangioblastomas of the cerebellum and spinal cord, renal cell carcinomas, pheochromocytomas and other cystic lesions in the kidneys, pancreas, and epididymis. It is a rare disorder with prevalence estimated at 2-3 per 100,000. This case report describes a 37 years old Chinese gentleman who presented to our institution for further management of bilateral pheochromocytoma and retinal angioblastoma with problems of duodenal ulcer and anaemia. There was no family history of similar problems. With these features the criteria for the diagnosis of von Hippel Lindau disease was established.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis
Fulltext Phaeochromocytoma during pregnancy: ultrasound and MRI appearances

Puvaneswary M, Beckhouse M

Med J Malaysia, 1992 Mar;47(1):81-5.
PMID: 1387457
Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis*
Cystic neuroblastoma with colonic fistula

Thajunnisa bte Hassan Mohd, Yip CH

Pediatr Radiol, 1988;18(5):406.
PMID: 3050845

Neuroblastoma is the most common malignant tumour in infancy originating in about 70% of cases in the adrenal gland. Haemorrhage and necrosis is often seen in neuroblastoma but cyst formation is uncommon. Fistulous communication between an adrenal cystic neuroblastoma and the large bowel has never to our knowledge been reported before.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis
Fulltext Periadrenal inflammatory myofibroblastic tumour: half a decade before cure

Abdul Ghani R, Mohamed Shah FZ, Hanafiah M, Abdul Aziz M

BMJ Case Rep, 2019 Feb 01;12(2).
PMID: 30709882 DOI: 10.1136/bcr-2018-225687

A 30-year-old ex-smoker with a background history of childhood asthma presented with worsening shortness of breath despite receiving high doses of oral corticosteroid for pemphigus vulgaris which was diagnosed 5 years earlier. A high-resolution CT examination of the thorax reported non-specific bronchiectatic changes and revealed an incidental suprarenal mass. A subsequent CT scan confirmed a large adrenal mass with areas of necrosis and calcification. Serum renin and aldosterone, urinary catecholamine and 5-hydroxyindoleacetic acid were within normal limits. Surgical intervention was delayed due to difficulty in optimising preoperative respiratory functions. He finally underwent a midline laparotomy for removal of the tumour. Histopathological examinations revealed extrapulmonary inflammatory myofibroblastic tumour arising from the periadrenal soft-tissue, with presence of normal adrenal gland. He showed immediate improvements of his asthmatic symptoms and pemphigus vulgaris following the surgery. His oral steroid was rapidly reduced and he achieved complete remission 2 months later.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis*
Cystic pheochromocytoma mimicking a malignant pancreatic cyst

Lee J, Raman K, Sachithanandan S

Gastrointest Endosc, 2011 Sep;74(3):712-3.
PMID: 21111418 DOI: 10.1016/j.gie.2010.09.027
Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis*
Fulltext Renal cell carcinoma in a von Hippel-Lindau syndrome: when should phaeochromocytoma be anticipated?

Azarisman SM, Nor Azmi K

Singapore Med J, 2007 Aug;48(8):779-82.
PMID: 17657389

A 39-year-old man was diagnosed with von Hippel-Lindau syndrome, which was associated with retinal haemangioblastoma, cervical cord haemangioblastoma and bilateral renal cell carcinoma. He subsequently underwent an arterial embolisation and cervical laminectomy, following a spinal angiogram of the cervical lesion. He also had a right radical nephrectomy, with no perioperative complications. However, on admission for the left radical nephrectomy, he was noted to have preoperative hypertension. Further investigation revealed an enlarged left adrenal gland on abdominal computed tomography scan and raised urinary catecholamines. We discuss the risk of renal cell carcinoma and phaeochromocytoma arising concomitantly in von Hippel-Lindau syndrome, and how best to investigate and manage them.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis
Fulltext Early presentation of right adrenal mass, hepatoblastoma and hepatic cavernous haemangioma in Beckwith-Wiedemann Syndrome

Teh SH, Ong GB

Med J Malaysia, 2007 Oct;62(4):345-6.
PMID: 18551945 MyJurnal

Beckwith-Wiedemann Syndrome (BWS) is associated with early development of embryonal tumours usually in the first four years of life. We describe a patient who presented with a right adrenal cyst in the first month of life and hepatoblastoma in the third month of life. A cavernous haemangioma was subsequently found in the resected tumour.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis
Epinephrine-secreting pheochromocytoma in a normotensive woman with adrenal incidentaloma

Sukor N, Saidin R, Kamaruddin NA

South. Med. J., 2007 Jan;100(1):73-4.
PMID: 17269532

Pheochromocytomas are rare neuroendocrine tumors that produce, metabolize, and usually secrete catecholamines. Although hypertension is a common presenting feature of pheochromocytoma, the tumors occur (or are present) in only 0.1% of patients with hypertension. The variability of symptoms and rarity of occurrence render these tumors difficult to diagnose; many are discovered incidentally during radiological examination or at autopsy. A patient is presented with a pheochromocytoma that was discovered incidentally when she presented with abdominal pain and a normal blood pressure.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis
Endogenous Cushing syndrome from an ectopic adrenocorticotropic hormone production as a rare cause of ocular hypertension

Khaw KW, Jalaludin MY, Suhaimi H, Harun F, Subrayan V

J AAPOS, 2010 Aug;14(4):356-7.
PMID: 20637667 DOI: 10.1016/j.jaapos.2010.04.009

Ocular hypertension caused by endogenous Cushing syndrome from an ectopic adrenocorticotropic hormone-producing tumor is rare. We report an 11-year-old boy who presented with intraocular pressures (IOPs) of 50 mm Hg in both eyes. Surgical resection of the tumor was performed with subsequent normalization of serum cortisol and IOP levels.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis
Unusual presentation of pheochromocytoma with ischemic sigmoid colitis and stenosis

Tan F, Thai AC, Cheah WK, Mukherjee JJ

South. Med. J., 2009 Oct;102(10):1068-70.
PMID: 19738530 DOI: 10.1097/SMJ.0b013e3181b571e6

A 45-year-old woman with poorly controlled hypertension and diabetes mellitus presented with left iliac fossa pain, constipation alternating with diarrhea, and weight loss. She had been diagnosed with idiopathic cardiomyopathy five years previously. Echocardiogram had shown a left ventricular ejection fraction (LVEF) of 35%; coronary angiogram was normal. Colonoscopy revealed sigmoid colitis with stenosis. Abdominal computed tomography revealed a 5 cm right adrenal tumor. Twenty-four hour urinary free catecholamines and fractionated metanephrine excretion values were elevated, confirming pheochromocytoma. Her colitis resolved after one month of adrenergic blockade. Repeat echocardiogram showed improvement of LVEF to 65%. After laparoscopic right adrenalectomy, the patient's hypertension resolved, and diabetic control improved. Timely management avoided further morbidity and potential mortality in our patient.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis*
Fulltext Presenting features and treatment outcome of 78 Malaysian children with neuroblastoma

Ng SM, Abdullah WA, Lin HP, Chan LL

Southeast Asian J Trop Med Public Health, 1999 Mar;30(1):149-53.
PMID: 10695803

To study the distribution of presenting features and their prognostic significance in neuroblastoma treated in a single institution in Malaysia. A retrospective study was made of 78 neuroblastoma cases diagnosed and treated in the University Hospital, Kuala Lumpur, Malaysia between June 1982 and February 1997. Diagnosis was established by standard histological criteria. The presenting features were evaluated for their distribution and prognostic influence. Disease-free survival from diagnosis was the outcome variable of interest. The ages ranged from 0.1 to 11 years old (median: 3 years old). The tumor originated from the adrenal glands in 83% and the majority of cases presented in advanced stage (stage III 22%, stage IV 66%). Bone marrow was the commonest site of distant metastasis occurring in 45% of patients. The main presenting signs and symptoms in decreasing order were pallor, fever, abdominal mass, weight loss, and bone/joint pain. Univariate analysis conferred age, initial stage and Hb level as significant prognostic factors. No influence in disease-free survival was found for sex, race, primary site, urinary vanillylmandelic acid level, white cell count and platelet count. Overall 2-year disease-free survival was achieved in 27 (39%) patients. Four patients underwent bone marrow transplant, three of whom achieved 2-year disease-free survival. The results suggest that age, initial stage and hemoglobin level are significant prognostic factors based on univariate analysis. In addition, more Malaysian children presented with adrenal primary site and advanced disease compared to previous reported studies.

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis*