Skip to main content

Advertisement

SpringerLink
Log in

Cystic parathyroid glands in MEN1: A rare entity?

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

Abstract

Approximately 300 cases of sporadic parathyroid cyst (PCs) have been reported to date. Only two cases have been described in MEN1 so far. Detection by imaging could be challenging, especially in multiglandular primary hyperparathyroidism (HPT) and clinical outcome could be different. During the period 1990–2014, 71 MEN1 patients were operated for primary hyperparathyroidism in our centre. We report three cases of PCs in MEN1 patients affected by HPT, who underwent a total or subtotal parathyroidectomy with transcervical thymectomy. In our series, all three patients had an unsatisfactory postoperative course, at variance with the high percentage (over 90 %) of long-term success in MEN1 patients operated at our centre. One patient affected by cystic degeneration of all the four parathyroid glands reported persistent hypoparathyroidism, despite autografts of parathyroid tissue. For the other two cases, surgery failed to cure hyperparathyroidism, perhaps because of the presence of undetected ectopic parathyroid tissue. In the context of a multiglandular disease such as MEN1 syndrome, PCs seem rare but our experience shows about a 4 % incidence. Furthermore their presence, even in expert hands, could affect the preoperative identification of the parathyroid glands due to the difficult differential diagnosis between PC and other cystic lesions of the neck, and intraoperative detection of the glands as well as the postoperative outcome.

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
Fig. 2
Fig. 3

Similar content being viewed by others

Abbreviations

PC:

Parathyroid cyst

MEN1:

Multiple endocrine neoplasia syndrome type 1

HPT:

Hyperparathyroidism

PTH:

Parathyroid hormone

IOPTH:

Intraoperative parathyroid hormone

US:

Ultrasonography

FNA:

Fine needle aspiration

MRI:

Magnetic resonance imaging

SPECT–CT:

Single-photon emission computed tomography/computed tomography

VIP:

Vasoactive intestinal peptide

HPT–JT:

Hyperparathyroidism–jaw tumour syndrome

References

  1. Sandstrom I (1880) Om en kortel hos mennishkan och atskilliga doggdjus. Ups Lakafor Forhandl 14:441–471

    Google Scholar 

  2. Goris D (1905) Extirpation de trios lobules parathyroidens kystiques. Ann Soc Belge Chir 5:394–400

    Google Scholar 

  3. Crile G Jr, Perryman RG (1953) Parathyroid cysts; report of five cases. Surgery 34:151–154

    PubMed  Google Scholar 

  4. Rojdmark JS, Mouchik JM (1998) Concentrations of parathyroid hormone in functioning and non-functioning parathyroid cysts. Eur J Surg 164:65–67

    Article  CAS  PubMed  Google Scholar 

  5. Pinney SP, Daly PA (1999) Parathyroid cyst: an uncommon cause of a palpable neck mass and hypercalcemia. West J Med 170:118–120

    CAS  PubMed  PubMed Central  Google Scholar 

  6. Wani S, Hao Z (2005) Atypical cystic adenoma of the parathyroid gland: case report and review of literature. Endocr Pract 11:389–393

    Article  PubMed  Google Scholar 

  7. McCoy KL, Yim JH, Zuckerbraun BS, Ogilvie JB, Peel RL et al (2009) Cystic parathyroid lesions: functional and nonfunctional parathyroid cysts. Arch Surg 144:52–56

    Article  PubMed  Google Scholar 

  8. Cappelli C, Rotondi M, Pirola I, De Martino E, Leporati P et al (2009) Prevalence of parathyroid cysts by neck ultrasound scan in unselected patients. J Endocrinol Invest 32:357–359

    Article  CAS  PubMed  Google Scholar 

  9. Wirowski D, Wicke C, Böhner H, Lammers BJ, Pohl P et al (2008) Presentation of 6 cases with parathyroid cysts and discussion of the literature. Exp Clin Endocrinol Diabetes 116:501–506

    Article  CAS  PubMed  Google Scholar 

  10. Ippolito G, Palazzo FF, Sebag F, Sierra M, De Micco C et al (2006) A single-institution 25-year review of true parathyroid cysts. Langenbecks Arch Surg 391:13–18

    Article  PubMed  Google Scholar 

  11. Lydiatt DD, Byers RM, Khouri KG, Whitworth PW, Sellin RV (1993) Functional parathyroid cyst and hypocalciuric hypercalcemia. Ear Nose Throat J 72:142–144

    CAS  PubMed  Google Scholar 

  12. Entwistle JW, Pierce CV, Johnson DE, O’Donovan SC, Bagwell CE et al (1994) Parathyroid cysts: report of the sixth and youngest pediatric case. J Pediatr Surg 29:1528–1529

    Article  CAS  PubMed  Google Scholar 

  13. Umemori Y, Makihara S, Kotani K, Washio K (2002) Mediastinal parathyroid cyst with tracheal constriction. Jpn J Thorac Cardiovasc Surg 50:85–87

    Article  PubMed  Google Scholar 

  14. McKay GD, Ng TH, Morgan GJ, Chen RC (2007) Giant functioning parathyroid cyst presenting as a retrosternal goiter. ANZ J Surg 77:297–304

    Article  PubMed  Google Scholar 

  15. Halenka M, Frysak Z, Koranda P, Kucerova L (2008) Cystic parathyroid adenoma within a multinodular goiter: a rare cause of primary hyperparathyroidism. J Clin Ultrasound 36:243–246

    Article  PubMed  Google Scholar 

  16. Rickels MR, Langer JE, Mandel SJ (2004) Hyperfunctioning intrathyroidal parathyroid cyst. J Clin Endocrinol Metab 89:1051–1052

    Article  CAS  PubMed  Google Scholar 

  17. Mitmaker B, Lerman S, Lamoureux E, Begin L (1991) Parathyroid cyst: diagnosis and treatment of an unusual surgical problem. Can J Surg 34:59–61

    CAS  PubMed  Google Scholar 

  18. McCluggage WG, Russell CF, Toner PG (1995) Parathyroid cyst of the thymus. Thorax 50:913–914

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Shields TW, Immerman SC (1999) Mediastinal parathyroid cysts revisited. Ann Thorac Surg 67:581–590

    Article  CAS  PubMed  Google Scholar 

  20. Gamondes JP, Maret G, Berger G, Brune J, Joud R (1978) Parathyroid adenoma of the upper mediastinum with blood-filled cyst causing dyspnoea. Nouv Presse Med 7:41–49

    Google Scholar 

  21. Sen P, Flower N, Papesch M, Davis A, Spedding AV (2000) A benign parathyroid cyst presenting with hoarse voice. J Laryngol Otol 114:147–148

    Article  CAS  PubMed  Google Scholar 

  22. Grey AB, Shaw JH, Anderson NE, Holdaway IM (1993) Parathyroid cyst with recurrent vocal cord paresis. Aust N Z J Surg 63:561–562

    Article  CAS  PubMed  Google Scholar 

  23. Coelho DH, Boey HP (2006) Bening parathyroid cyst causing vocal fold paralysis: a case report and review of the literature. Head Neck 28:564–566

    Article  PubMed  Google Scholar 

  24. Gattas N, Solt I, Loberant N, Hazani E, Rimon D (2007) Parathyroid cyst associated with acute respiratory failure and jugular vein thrombosis. Harefuah 146:599–601

    PubMed  Google Scholar 

  25. Tamiya H, Miyakawa M, Suzuki H, Takesita A, Ohashi K et al (2013) A large functioning parathyroid cyst in a patient with multiple endocrine neoplasia type 1. Endocr J 60:709–714

    Article  CAS  PubMed  Google Scholar 

  26. Kinoshita Y, Nonaka H, Yamaguchi H, Ichikawa M, Suzuki S et al (1986) A case of multiple endocrine neoplasia type 1 with growth hormone and prolactin secreting pituitary adenoma, functioning large parathyroid cyst, and Zollinger-Ellison syndrome. Nihon Naika Gakkai Zasshi 75:512–521 (in Japanese)

    Article  CAS  PubMed  Google Scholar 

  27. Makino T, Sugimoto T, Kaji H, Yamaguchi T, Kitazawa R et al (2003) Functioning giant parathyroid cyst with high concentration of CA 19-9 in cystic fluid. Endocr J 50:215–219

    Article  PubMed  Google Scholar 

  28. Fallon MD, Haines JW, Teitelbaum SL (1982) Cystic parathyroid gland hyperplasia—hyperparathyroidism presenting as a neck mass. Am J Clin Pathol 77:104–107

    Article  CAS  PubMed  Google Scholar 

  29. Clark OH (1978) Parathyroid cysts. Am J Surg 135:395–402

    Article  CAS  PubMed  Google Scholar 

  30. Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S et al (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32:676–680

    Article  CAS  PubMed  Google Scholar 

  31. Villabianca A, Calender A, Forsberg L, Höög A, Cheng JD et al (2004) Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet 41:e32

    Article  Google Scholar 

  32. Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D et al (2003) HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet 40:657–663

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. SimondsWF Robbins CM, Agarwal SK, Hendy GN, Carpten JD et al (2004) Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 89:96–102

    Article  Google Scholar 

  34. Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B et al (2004) Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. J Clin Endocrinol Metab 89:1747–1752

    Article  CAS  PubMed  Google Scholar 

  35. Cetani F, Pardi E, Borsari S, Viacava P, Dipollina G et al (2004) Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. J Clin Endocrinol Metab 89:5583–5591

    Article  CAS  PubMed  Google Scholar 

  36. Moon SD, Park JH, Kim EM, Kim JH, Han JH et al (2005) A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 90:878–883

    Article  CAS  PubMed  Google Scholar 

  37. Rozenblatt-Rosen O, Hughes CM, Nannepaga SJ, Shanmugam KS, Copeland TD et al (2005) The parafibromin tumor suppressor protein is part of a human Paf1 complex. Mol Cell Biol 25:612–620

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Yart A, Gstaiger M, Wirbelauer C, Pecnik M, Anastasiou D et al (2005) The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. Mol Cell Biol 25:5052–5060

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  39. Shattuck TM, Välimäki S, Obara T, Gaz RD, Clark OH et al (2003) Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 349:1722–1729

    Article  CAS  PubMed  Google Scholar 

  40. Tan MH, Morrison C, Wang P, Yang X, Haven CJ et al (2004) Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. Clin Cancer Res 10:6629–6637

    Article  CAS  PubMed  Google Scholar 

  41. Krebs LJ, Shattuck TM, Arnold A (2005) HRPT2 mutational analysis of typical sporadic parathyroid adenomas. J Clin Endocrinol Metab 90:5015–5017

    Article  CAS  PubMed  Google Scholar 

  42. Weinstein LS, Simonds WF (2003) HRPT2, a marker of parathyroid cancer. N Engl J Med 349:1691–1692

    Article  CAS  PubMed  Google Scholar 

  43. Haid SP, Method HL, Beal JM (1967) Parathyroid cysts. Arch Surg 94:421–426

    Article  CAS  PubMed  Google Scholar 

  44. Cappelli C, Gandossi E, Pirola I, De Martino E, Delbarba A, Maurizio C (2007) Parathyroid cyst: often mistaken for a thyroid cyst. World J Surg 31:2269

    Article  PubMed  Google Scholar 

  45. Gough IR (1999) Parathyroid cysts. Aust Ν Ζ J Surg 69:404–406

    Article  CAS  Google Scholar 

  46. Kato H, Kanematsu M, Kiryu T, Iwata H, Shirahashi K et al (2008) Nonfunctional mediastinal parathyroid cyst: imaging findings in two cases. Clin Imaging 32:310–313

    Article  PubMed  Google Scholar 

  47. Layfield LJ (1991) Fine needle aspiration cytology of cystic parathyroid lesions. A cytomorphologic overlap with cystic lesions of the thyroid. Acta Cytol 35:447–450

    CAS  PubMed  Google Scholar 

  48. Ihm PS, Dray T, Sofferman RA, Nathan M, Hardin NJ (2001) Parathyroid cysts: diagnosis and management. Laryngoscope 111:1576–1578

    Article  CAS  PubMed  Google Scholar 

  49. Rangnekar N, Bailer WJ, Ghani A, Carbonell FA, Nowak M (1996) Parathyroid cysts. Report of four cases and review of the literature. Int Surg 81:412–414

    CAS  PubMed  Google Scholar 

  50. Pacini F, Antonelli A, Lari R, Gasperini L, Baschieri A et al (1985) Unsuspected parathyroid cysts diagnosed by measurement of thyroglobulin and parathyroid hormone concentrations in fluid aspirates. Ann Intern Med 102:793–794

    Article  CAS  PubMed  Google Scholar 

  51. Lerud KS, Tabbara SO, DelVecchio DM, Frost AR (1996) Cytomorphology of cystic parathyroid lesions: report of four cases evaluated preoperatively by fine-needle aspiration. Diagn Cytopathol 15:306–311

    Article  CAS  PubMed  Google Scholar 

  52. Prinz RA, Peters JR, Kane JM, Wood J (1990) Needle aspiration of non-functioning parathyroid cysts. Am Surg 56:420–422

    CAS  PubMed  Google Scholar 

  53. Locchi F, Cavalli T, Giudici F, Brandi ML, Tonelli F (2014) Intraoperative PTH monitoring: a new approach based on the identification of the “true” time origin of the decay curve. Endocr J 61:239–247

    Article  PubMed  Google Scholar 

  54. Moyes VJ, Monson JP, Chew SL, Akker SA (2010) Clinical use of cinacalcet in MEN1 hyperparathyroidism. Int J Endocr 2010:906163

    Article  CAS  Google Scholar 

  55. Falchetti A, Cilotti A, Vaggelli L, Masi L, Amedei A et al (2008) A patient with MEN1-associated hyperparathyroidism, responsive to cinacalcet. Nat Clin Pract Endocrinol 4:351–357

    Google Scholar 

  56. Cetani F, Saponaro F, Banti C, Cianferotti L, Vignali E et al (2011) Cinacalcet efficacy in patients with moderately severe primary hyperparathyroidism according to the European Medicine Agency prescription labeling. J Endocr Invest 35:655–660

    PubMed  Google Scholar 

  57. Cozzolino M, Mazzaferro S, Messa P (2011) New insights into the role of calcium-sensing receptor activation. J Nephrol 24(Suppl 18):S38–S41

    Article  CAS  PubMed  Google Scholar 

  58. Sanchez A, Carretto H (1993) Treatment of a non-functioning parathyroid cyst with tetracycline injection. Head Neck 15:263–265

    Article  CAS  PubMed  Google Scholar 

  59. Akel M, Salti I, Azar ST (1999) Successful treatment of parathyroid cyst using ethanol sclerotherapy. Am J Med Sci 317:50–52

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

The authors are grateful to Professor Fabrizio Locchi (Physics, University of Florence) for having created the graph on the intraoperative PTH monitoring.

Author contributions

Tiziana Cavalli, Francesco Giudici, and Francesco Tonelli: substantial contributions to conception and design, acquisition of data, analysis and interpretation of data; drafting the article and revising it critically for important intellectual content; final approval of the version to be published, and agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. Gabriella Nesi, Andrea Amorosi, Raffaella Santi: acquisition of data, drafting the work, revising it critically for important intellectual content, final approval of the version to be published, and agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. Maria Luisa Brandi: Substantial contributions to the conception and design of the work, the analysis and interpretation of data for the work, drafting the work, revising it critically for important intellectual content.

Author information

Authors and Affiliations

  1. Department of Surgery and Translational Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy

    Tiziana Cavalli, Francesco Giudici, Gabriella Nesi, Raffaella Santi, Maria Luisa Brandi & Francesco Tonelli

  2. Institute of Pathology, Department of Health Sciences, University “Magna Graecia” of Catanzaro, Catanzaro, Italy

    Andrea Amorosi

Authors
  1. Tiziana Cavalli
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Francesco Giudici
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Gabriella Nesi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Andrea Amorosi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Raffaella Santi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Maria Luisa Brandi
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Francesco Tonelli
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Tiziana Cavalli.

Ethics declarations

Conflict of interest

The authors certify that there is no present or potential conflict of interest in relation to this article and furthermore state there are no financial interests or connections, direct or indirect, or other situations that might raise the question of bias in the work reported or the conclusions, implications, or opinions stated—including pertinent commercial or other sources of funding for the individual author(s) or associated department(s) or organization(s), personal relationships, or direct academic competition.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Cavalli, T., Giudici, F., Nesi, G. et al. Cystic parathyroid glands in MEN1: A rare entity?. Familial Cancer 16, 249–256 (2017). https://doi.org/10.1007/s10689-016-9936-y

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-016-9936-y

Keywords

Search

Navigation