Volume 10 Supplement 2

Familial Aspects of Cancer 2011 Research and Practice

Open Access

Genetic testing and immunohistochemistry for SDHB in phaeochromocytoma-paraganglioma syndromes: the South Australian experience

  • NK Poplawski1, 2, 3Email author,
  • L Rawlings4,
  • J Seymour4,
  • C Vakulin4,
  • A Tirimacco4,
  • DE Benn5 and
  • AJ Gill6, 7
Hereditary Cancer in Clinical Practice201210(Suppl 2):A60

https://doi.org/10.1186/1897-4287-10-S2-A60

Published: 12 April 2012

Aim and methods

a retrospective review of germline genetic testing (VHL, RET and succinate dehydrogenase subunit genes SDHB, SDHC and SDHD) and immunohistochemical staining for SDHB in tumour tissue (SDHB-IHC), in patients referred to the South Australian Familial Cancer Unit with an adrenal phaeochromocytoma (PC) and/or paraganglioma (PGL).

Results

between January 1999 and May 2011, 24 probands were referred to and assessed by our service. The clinical presentation and mutation pick up are presented in the table. Tumour tissue was available from 20 probands and SDHB-IHC was abnormal in all probands with an SDH mutation (5/5; 100%), 0/1 with a VHL mutation and 2/12 (16%) with no identified mutation (the 2 probands with abnormal SDHB-IHC both presented with familial head & neck PGL). Tissue was unavailable for testing in the remaining 4 patients; 3 with a RET mutation and a MEN2 phenotype; 1 with an SDHD mutation and familial head & neck PGL (SDH-IHC is pending in her affected sister). Table 1.

Table 1

Phenotype

No.

Number with mutation identified

  

Total

RET

VHL

SDHB

SDHC

SDHD

Apparently sporadic unilateral PC

10^

1

-

-

1*

-

-

Familial PC

1

1

-

1

-

-

-

PC & MEN2 features

3

3

3

-

-

-

-

Apparently sporadic head & neck PGL

4

2

-

-

-

1

1

Familial head & neck PGL

3

1

-

-

-

-

1

Apparently sporadic malignant abdominal PGL

3

2

-

-

2

-

-

TOTAL

24

10

3

1

3

1

2

* presented with unilateral PC and developed a head and neck PGL 14 years after the PC

^ VHL and RET testing incomplete in 2 (complete testing will be presented at the meeting)

Conclusion

our experience supports using SDHB-IHC as a tool to triage genetic testing in patients with PC or PGL.

Authors’ Affiliations

(1)
Familial Cancer Unit, Women's and Children's Hospital
(2)
Familial Cancer Unit, SA Pathology (WCH Site)
(3)
University of Adelaide
(4)
Genetics & Molecular Pathology Directorate, SA Pathology (Frome Road Site)
(5)
Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital
(6)
Department of Anatomical Pathology, Royal North Shore Hospital
(7)
University of Sydney

References

  1. Gill , et al.: Hum Pathol. 2010, 41: 805–14, van Nederveen et al Lancet Oncol 2009;10:764-771Google Scholar

Copyright

© Poplawski et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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