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Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients

Familial Cancer volume 9, pages 443–447 (2010)Cite this article

Abstract

Carney triad is a usually sporadic association of pulmonary chondroma, gastrointestinal stromal tumours, and paraganglioma. The majority of patients have two of these tumours, the gastric and pulmonary tumours being the most common combination. Carney Stratakis syndrome is an association of familial paraganglioma and gastric stromal sarcoma and it is considered to be a distinct condition from Carney triad as it is dominantly inherited and not associated with pulmonary chondroma. We report two unrelated patients each with two components of Carney triad. A pathological mutation in succinate dehydrogenase subunit B gene was identified in one and a variant in the same gene was identified in the other. This report demonstrates the difficulty in distinguishing between Carney triad and Carney Stratakis syndrome due to the rarity of the individual components. The fact that most patients with Carney triad have only two components of the Triad, and the long interval often seen between the occurrence of the first and the second component makes it difficult to differentiate confidently between the two conditions. Molecular information should improve the diagnosis of Carney triad.

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Abbreviations

CD34:

Cluster of differentiation, molecule CD34

CT:

Computerized tomography

DNA:

Deoxyribonucleic acid

KIT:

c-Kit

MEN2A:

Mutliple endocrine neoplasia type 2A

MIBG:

Meta-iodobenzylguanidine scintiscan

MLPA:

Multiplex ligation dependent probe amplification

MRI:

Magnetic resonance image

PDGFRA:

Platelet-derived growth factor receptor A

RNA:

Ribonucleic acid

SDHA:

Succinate dehydrogenase subunit A

SDHB:

Succinate dehydrogenase subunit B

SDHC:

Succinate dehydrogenase subunit C

SDHD:

Succinate dehydrogenase subunit D

VHL:

Von Hippel Lindau

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Acknowledgments

We thank the patients and their families for their cooperation and for giving us their consents for publishing this report. We also thank Fiona Macdonald from West Midlands Genetics Laboratory for her help and support.

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Affiliations

  1. Department of Medical Genetics, St George’s Hospital Medical School, Cranmer Terrace, London, SW17 0RE, UK

    Ismail Alrashdi & Shirley V. Hodgson

  2. Department of Endocrinology, St George’s Hospital, Blackshaw Road, London, SW17 0QT, UK

    Gul Bano

  3. Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK

    Eamonn R. Maher

Authors
  1. Ismail Alrashdi
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  2. Gul Bano
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  3. Eamonn R. Maher
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  4. Shirley V. Hodgson
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Corresponding author

Correspondence to Shirley V. Hodgson.

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Alrashdi, I., Bano, G., Maher, E.R. et al. Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. Familial Cancer 9, 443–447 (2010). https://doi.org/10.1007/s10689-010-9323-z

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  • DOI: https://doi.org/10.1007/s10689-010-9323-z

Keywords

  • Carney triad
  • Carney Stratakis syndrome
  • Gastric epithelioid leiomyosarcoma
  • Paraganglioma
  • Phaeochromocytoma
  • Pulmonary chondroma