Skip to main content
SpringerLink
Log in

Coexistence of paraganglioma/pheochromocytoma and papillary thyroid carcinoma: a four-case series analysis

  • Original Article
  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

The paraganglioma (PGL)/pheochromocytoma (PHEO)—papillary thyroid carcinoma (PTC) dyad has been reported rarely. Whether the association is coincidental or results from an underlying genetic predisposition is difficult to ascertain. We analyzed clinical and molecular data on four unrelated patients identified and treated by one of us (MJB) at a tertiary center. Patients were screened for germline variants in a panel of candidate genes: RET, VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, PTEN, CDKN1B. All patients were female; median age at diagnosis of PGL/PHEO was 45 years and at diagnosis of PTC was 49.5 years. Only one patient had family history of thyroid cancer. PTC was multifocal in 2 cases, of the classical type in 2 cases and of the follicular type in 2 cases. Two patients harbored heterozygous germline variants of uncertain significance in the SDHB gene: Ser163Pro and Ala3Gly. The −79T>C polymorphism in the CDKN1B gene was present in all patients (3 in homozygous and 1 in heterozygous state). Results deriving from a comprehensive analysis of a panel of genes suggest that there is no single explanation for the association PGL/PHEO—PTC. It may occur through different mechanisms such as the combinatorial effect of different genetic variants, be a coincidental association or, alternatively, result from genetic variants in genes still awaiting identification.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Reyes CV (1984) Thyroid carcinoma in von Hippel–Lindau disease. Arch Intern Med 144(2):413

    Article  CAS  PubMed  Google Scholar 

  2. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C, European-American Paraganglioma Study Group (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292(8):943–951

    Article  CAS  PubMed  Google Scholar 

  3. Hashiba T, Maruno M, Fujimoto Y, Suzuki T, Wada K, Isaka T, Izumoto S, Yoshimine T (2006) Skull metastasis from papillary thyroid carcinoma accompanied by neurofibromatosis type 1 and pheochromocytoma: report of a case. Brain Tumor Pathol 23(2):97–100

    Article  PubMed  Google Scholar 

  4. Nasser T, Qari F (2009) Pheochromocytoma, papillary thyroid carcinoma. Saudi Med J 30(8):1087–1090

    PubMed  Google Scholar 

  5. Huguet I, Walker L, Karavitaki N, Byrne J, Grossman AB (2013) Dandy-Walker malformation, papillary thyroid carcinoma, and SDHD-associated paraganglioma syndrome. J Clin Endocrinol Metab 98(12):4595–4596

    Article  CAS  PubMed  Google Scholar 

  6. Zbuk KM, Patocs A, Shealy A, Sylvester H, Miesfeldt S, Eng C (2007) Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma. Nat Clin Pract Oncol 4(10):608–612

    Article  CAS  PubMed  Google Scholar 

  7. Yang JH, Bae SJ, Park S, Park H-K, Jung HS, Chung JH, Min Y-K, Lee M-S, Kim K-W, Lee M-K (2007) Bilateral pheochromocytoma associated with paraganglioma and papillary thyroid carcinoma: report of an unusual case. Endocr J 54(2):227–231

    Article  PubMed  Google Scholar 

  8. Papathomas TG, Gaal J, Corssmit EPM, Oudijk L, Korpershoek E, Heimdal K, Bayley J-P, Morreau H, van Dooren M, Papaspyrou K, Schreiner T, Hansen T, Andresen PA, Restuccia DF, van Kessel I, van Leenders GJLH, Kros JM, Looijenga LHJ, Hofland LJ, Mann W, van Nederveen FH, Mete O, Asa SL, de Krijger RR, Dinjens WNM (2013) Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis. Eur J Endocrinol 170(1):1–12

    Article  PubMed  Google Scholar 

  9. Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C (2008) Germline mutations and variants in the succinate dehydrogenase genes in cowden and cowden-like syndromes. Am J Hum Genet 83(2):261–268

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  10. Ni Y, Seballos S, Ganapathi S, Gurin D, Fletcher B, Ngeow J, Nagy R, Kloos RT, Ringel MD, LaFramboise T, Eng C (2015) Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer. Endocr Relat Cancer 22(2):121–130

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  11. Landa I, Montero-Conde C, Malanga D, De Gisi S, Pita G, Leandro-Garcia L-J, Inglada-Perez L, Leton R, De Marco C, Rodriguez-Antona C, Viglietto G, Robledo M (2010) Allelic variant at −79 (C>T) in CDKN1B (p27Kip1) confers an increased risk of thyroid cancer and alters mRNA levels. Endoc Relat Cancer 17(2):317–328

    Article  CAS  Google Scholar 

Download references

Conflict of interest

None.

Author information

Authors and Affiliations

  1. Serviço de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Rua Professor Lima Basto, 1099-023, Lisbon, Portugal

    Maria João Bugalho

  2. Unidade de Investigação de Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Rua Professor Lima Basto, 1099-023, Lisbon, Portugal

    Maria João Bugalho, Ana Luísa Silva & Rita Domingues

  3. NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Campo dos Mártires da Pátria, 130, 1169-056, Lisbon, Portugal

    Maria João Bugalho

Authors
  1. Maria João Bugalho
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ana Luísa Silva
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rita Domingues
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Maria João Bugalho.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Bugalho, M.J., Silva, A.L. & Domingues, R. Coexistence of paraganglioma/pheochromocytoma and papillary thyroid carcinoma: a four-case series analysis. Familial Cancer 14, 603–607 (2015). https://doi.org/10.1007/s10689-015-9818-8

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-015-9818-8

Keywords

Search

Navigation