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Search: AMNE:(MEDICAL AND HEALTH SCIENCES Clinical Medicine Dermatology and Venereal Diseases) > (2015-2019) > Genetic testing and...

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

Muth, Andreas, 1974 (author)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för kirurgi,Institute of Clinical Sciences, Department of Surgery,Univ Gothenburg, Sahlgrenska Acad, Inst Clin Sci, Dept Surg, Gothenburg, Sweden,Sahlgrenska Academy
Crona, Joakim (author)
Uppsala University,Uppsala universitet,Endokrin tumörbiologi,Uppsala Univ, Sweden
Gimm, Oliver (author)
Linköping University,Linköpings universitet,Avdelningen för Kirurgi, Ortopedi och Onkologi,Medicinska fakulteten,Region Östergötland, Kirurgiska kliniken US
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Elmgren, A. (author)
Sahlgrens Univ Hosp, Clin Chem, Gothenburg, Sweden,Sahlgrenska University Hospital
Filipsson, K. (author)
Skane Univ Hosp, Endocrinol, Lund, Sweden,Skåne University Hospital
Stenmark Askmalm, M. (author)
Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
Sandstedt, Joakim (author)
Sahlgrens Univ Hosp, Clin Chem, Gothenburg, Sweden,Sahlgrenska University Hospital
Tengvar, M. (author)
Karolinska Univ Hosp, Dept Radiol, Stockholm, Sweden,Karolinska University Hospital
Tham, E. (author)
Karolinska Institute,Karolinska Institutet,Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden,Karolinska University Hospital
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 (creator_code:org_t)
2018-12-08
2019
English.
In: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 285:2, s. 187-204
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Pheochromocytoma and paraganglioma (PPGL) are rare tumours and at least 30% are part of hereditary syndromes. Approximately 20% of hereditary PPGL are caused by pathogenic germ line variants in genes of the succinate dehydrogenase complex (SDHx), TMEM127 or MAX. Herein we present guidelines regarding genetic testing of family members and their surveillance based on a thorough literature review. All cases of PPGL are recommended genetic testing for germ line variants regardless of patient and family characteristics. At minimum, FH, NF1, RET, SDHB, SDHD and VHL should be tested. In addition, testing of MEN1, SDHA, SDHAF2, SDHC, TMEM127 and MAX is recommended. Healthy first-degree relatives (and second-degree relatives in the case of SDHD and SDHAF2 which are maternally imprinted) should be offered carrier testing. Carriers of pathogenic variants should be offered surveillance with annual biochemical measurements of methoxy-catecholamines and bi-annual rapid whole-body magnetic resonance imaging and clinical examination. Surveillance should start 5 years before the earliest age of onset in the family and thus only children eligible for surveillance should be offered pre-symptomatic genetic testing. The surveillance of children younger than 15 years needs to be individually designed. Our guidelines will provide a framework for patient management with the possibility to follow outcome via national registries and/or follow-up studies. Together with improved insights into the disease, this may enable optimisation of the surveillance scheme in order to minimise both anxiety and medical complications while ensuring early disease detection.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Kirurgi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Surgery (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Dermatologi och venereologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Dermatology and Venereal Diseases (hsv//eng)

Keyword

molecular genetics
neuroendocrine tumours
pheochromocytoma
multiple endocrine neoplasia
syndromes clinical-features
tumor-suppressor gene
complex-ii deficiency
germ-line mutations
von-hippel-lindau
succinate-dehydrogenase
malignant pheochromocytoma
sdhd gene
sporadic pheochromocytoma/paragangliom
molecular genetics

Publication and Content Type

ref (subject category)
art (subject category)

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