Pheochromocytoma: Impact of genetic testing on clinical practice in Vietnam

MedPharmRes ◽  
2021 ◽  
Vol 5 (2) ◽  
pp. 12-16
Author(s):  
Minh Duc Do ◽  
Thang Viet Tran ◽  
Hoang Linh Le Gia ◽  
Hoang Van Lam ◽  
Hen Huu Phan ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Medullary Thyroid Cancer ◽  
Direct Sequencing ◽  
Management Strategies ◽  
Family Members ◽  
Clinical Approach ◽  
Prophylactic Thyroidectomy ◽  
Predisposing Genes ◽  
Risk Of Disease

Introduction: Germline mutations in predisposing genes have been found in 30-40% of pheochromocytoma/paraganglioma patients. Screening for inherited genetic mutations provide clinicians with mutation-positive patient management strategies in addition to identifying family members at risk of disease. However, genetic testing for pheochromocytoma has not been performed widely in Vietnam. Methods: Seven patients diagnosed with pheochromocytoma in Vietnam underwent germline genetic testing in known pheochromocytoma-associated genes by direct sequencing. When a germline mutation was identified the first-degree relatives were counseled and offered genetic testing for the inherited mutation. Results: Mutations were found in five of seven cases and all mutations were in RET proto-oncogene codon 634 indicating a high risk of developing aggressive medullary thyroid cancer and in some cases leading to prophylactic thyroidectomy as recommended. Conclusions: Genetic testing plays an essential role in the clinical management of pheochromocytoma patients. Genetic results have significantly changed the clinical approach in these patients and identified ‘at risk’ family members.

scholarly journals An audit of clinical service examining the uptake of genetic testing by at-risk family members

2012 ◽  
Vol 14 (1) ◽  
pp. 122-128 ◽  
Author(s):  
Laura Forrest ◽  
Martin Delatycki ◽  
Lisette Curnow ◽  
M. Gen Couns ◽  
Loane Skene ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Family Members ◽  
Clinical Service

scholarly journals Paravesicular Paraganglioma manifesting as Chronic Hypertension and Hypertensive Crisis

2014 ◽  
Vol 6 (2) ◽  
pp. 85-88
Author(s):  
Anna Kundel ◽  
Yi Cai ◽  
William Young ◽  
Geoffrey Thompson
Keyword(s):  
Genetic Testing ◽  
Relevant Literature ◽  
Management Strategies ◽  
Hypertensive Crisis ◽  
Family Members ◽  
Surgical Excision ◽  
Chronic Hypertension ◽  
Adrenergic Blockade ◽  
Adrenal Pheochromocytoma ◽  
Catheterization Procedure

ABSTRACT We describe a woman with a rare extra-adrenal pheochromocytoma who presented with a chronic hypertension and a hypertensive crisis initiated by an invasive cardiac catheterization procedure. We present a case report, review the relevant literature, and discuss management strategies. A 49-year-old woman with a 4-year history of hypertension experienced a hypertensive crisis following a catheterization procedure. Evaluation of the episode led to identification of a catecholaminesecreting pelvic paraganglioma as confirmed by 24-hour urine fractioned metanephrines and catecholamines as well as magnetic resonance imaging. The patient was carefully pharmacologically prepared for surgical resection. Paragangliomas may exhibit 30% inheritability, and the patient was counseled on genetic testing for early diagnosis of tumor in family members. Catecholamine-secreting paragangliomas are rare tumors that may present as hypertensive emergencies. Diagnosis relies on biochemical testing followed by imaging to avoid crisis induced by invasive procedures. Surgical excision is the treatment of choice, and pharmacological preparation for surgery begins at least 1 week prior to the procedure to ensure adequate adrenergic blockade. Following treatment for a paraganglioma, genetic testing should be recommended for early identification of affected family members. How to cite this article Cai Y, Kundel A, Young W, Thompson G. Paravesicular Paraganglioma manifesting as Chronic Hypertension and Hypertensive Crisis. World J Endoc Surg 2014; 6(2):85-88.

scholarly journals Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis

Gut ◽  
1999 ◽  
Vol 44 (5) ◽  
pp. 698-703 ◽  
Author(s):  
B Bapat ◽  
H Noorani ◽  
Z Cohen ◽  
T Berk ◽  
A Mitri ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Familial Adenomatous Polyposis ◽  
Family Members ◽  
Screening Strategy ◽  
Predictive Genetic Testing ◽  
Cost Comparison ◽  
Adenomatous Polyposis ◽  
Clinical Screening ◽  
The Cost

BACKGROUNDMutations of theAPC gene cause familial adenomatous polyposis (FAP), a hereditary colorectal cancer predisposition syndrome.AIMSTo conduct a cost comparison analysis of predictive genetic testing versus conventional clinical screening for individuals at risk of inheriting FAP, using the perspective of a third party payer.METHODSAll direct health care costs for both screening strategies were measured according to time and motion, and the expected costs evaluated using a decision analysis model.RESULTSThe baseline analysis predicted that screening a prototype FAP family would cost $4975/£3109 by molecular testing and $8031/£5019 by clinical screening strategy, when family members were monitored with the same frequency of clinical surveillance (every two to three years). Sensitivity analyses revealed that the genetic testing approach is cost saving for key variables including the kindred size, the age of screening onset, and the cost of mutation identification in a proband. However, if theAPC mutation carriers were monitored at an increased (annual) frequency, the cost of the genetic screening strategy increased to $7483/£4677 and was especially sensitive to variability in age of onset of screening, family size, and cost of genetic testing of at risk relatives.CONCLUSIONSIn FAP kindreds, a predictive genetic testing strategy costs less than conventional clinical screening, provided that the frequency of surveillance is identical using either strategy. An additional significant benefit is the elimination of unnecessary colonic examinations for those family members found to be non-carriers.

scholarly journals Coordination of Genetic Care: More Important and Complicated Than it Seems

2019 ◽  
Vol 17 (11) ◽  
pp. 1272-1276
Author(s):  
Suzanne M. Mahon
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Genetic Risk ◽  
Family Members ◽  
Psychosocial Distress ◽  
Comprehensive Care ◽  
Coordinated Care ◽  
Hereditary Risk ◽  
Appropriate Care ◽  
The Family

Families with hereditary risk for developing malignancy benefit from organized, coordinated care by a genetics professional. This report presents a case illustrating the potential errors that can occur when genetic care is fragmented and not coordinated, including ordering too much or not enough genetic testing, failing to communicate with the family who is at potential genetic risk, failing to communicate what the results of testing mean, and failing to recommend appropriate care, which may lead to psychosocial distress and late-detected cancers. This case highlights the complexities of genetic care and why management by a genetics professional results in more fiscally responsible care, appropriate genetic testing, and comprehensive care for all family members at risk.

What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing.

1998 ◽  
Vol 16 (5) ◽  
pp. 1650-1654 ◽  
Author(s):  
C Lerman ◽  
C Hughes ◽  
S J Lemon ◽  
D Main ◽  
C Snyder ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Depressive Symptoms ◽  
Genetic Testing ◽  
Family Members ◽  
Outcome Variable ◽  
Breast And Ovarian Cancer ◽  
Stress Symptoms ◽  
Related Stress

PURPOSE To identify members of hereditary breast and ovarian cancer families who are at risk for adverse psychologic effects of genetic testing. PATIENTS AND METHODS A prospective cohort study with baseline (preeducation) assessments of predictor variables (ie, sociodemographic factors, cancer history, and cancer-related stress symptoms) was performed. The primary outcome variable (presence of depressive symptoms) was assessed at baseline and at 1- and 6-month follow-up evaluations. Participants were 327 adult male and female members of BRCA1- and BRCA2-linked hereditary breast and ovarian cancer families, who were identified as carriers, noncarriers, or decliners of genetic testing. RESULTS The presence of cancer-related stress symptoms at baseline was strongly predictive of the onset of depressive symptoms in family members who were invited but declined testing. Among persons who reported high baseline levels of stress, depression rates in decliners increased from 26% at baseline to 47% at 1-month follow-up; depression rates in noncarriers decreased and in carriers showed no change (odds ratio [OR] for decliners v noncarriers=8.0; 95% confidence interval [CI], 1.9 to 33.5; P=.0004). These significant differences in depression rates were still evident at the 6-month follow-up evaluation (P=.04). CONCLUSION In BRCA1/2-linked families, persons with high levels of cancer-related stress who decline genetic testing may be at risk for depression. These family members may benefit from education and counseling, even if they ultimately elect not to be tested, and should be monitored for potential adverse effects.

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