Papillary carcinoma in thyroglossal duct cyst:

Two case reports and review of the literature

| Reprints
March 16, 2016
by Neil S. Patel, MD; Kianoush Sheykholeslami, MD, PhD

Abstract
The thyroglossal duct cyst is one of the more common congenital anterior neck masses. In rare
cases, carcinoma has been detected within one of these cysts on histopathologic analysis of
resected tissue. Since the incidence of thyroglossal duct cyst carcinoma is low, the appropriate
management of the thyroid gland proper is not algorithmic. We present 2 cases of papillary thyroid
carcinoma that were discovered in a thyroglossal duct cyst, and we describe the diagnostic and
therapeutic measures taken in each case. Particular attention is paid to two points: (1) fine-needle
aspiration biopsy may not be sufficient to rule out carcinoma and (2) removal of the thyroid gland
may be advisable in selected situations.

Introduction
As the thyroid gland descends from the foramen cecum to its location below the thyroid cartilage, it
leaves behind an epithelial trace known as the thyroglossal tract. This tract usually disappears
during gestational weeks 5 through 10. However, incomplete atrophy of the thyroglossal tract or the
presence of retained epithelial cysts creates a basis for the origin of a thyroglossal duct cyst
(TGDC).
A thyroglossal remnant can be a cyst, a tract or duct, a fistula, or an ectopic thyroid within a cyst or
duct below the thyroid cartilage. In descending to its normal position, the thyroid gland may leave
rests of cells along its path. 1 The reported prevalence of ectopic thyroid tissue in a TGDC has
ranged from 1.5 to 45% of cases.2
Carcinoma has been estimated to develop in a TGDC in 1 to 2% of cases. 3 Many of these cases are
discovered only after histopathologic studies following surgery to remove the TGDC. Synchronous

papillary carcinoma in the thyroid gland proper has been observed in 25 to 40% of patients in whom
the thyroid gland was removed as part of surgical treatment. 4,5 Therefore, treatment planning may
not be as straightforward as a simple resection of the TGDC.
Herein we present 2 cases of papillary thyroid carcinoma in a TGDC, and we discuss the diagnostic
approach to, treatment of, and outcomes associated with this rare clinical entity.

Case reports
Patient 1. A 28-year-old man presented with a midline neck mass. He reported that the size of the
mass had increased over the previous 2 months. Physical examination identified a 4-cm TGDC over
the hyoid bone. The cervical lymph nodes were not enlarged, the patient was euthyroid, and findings
on all other blood analyses were normal.
The Sistrunk procedure was performed to excise the TGDC. Postoperatively, the patient reported no
symptoms of hyper- or hypothyroidism. A 5-ml specimen of light-red thyroglossal cyst fluid was
positive for papillary carcinoma cells. The excised tissue was tan-pink and irregularly shaped,
measuring 3 x 2.5 x 1.5 cm, and it was attached to a part of the hyoid bone. Sectioning revealed a
cystic space 1.7 cm in its greatest dimension. Histology of the TGDC demonstrated papillary
carcinoma of the thyroid tissue with aggressive features.
Consultation with pathologists at the Mayo Clinic in Rochester, Minn., revealed that the thyroglossal
duct specimen contained intracystic papillary carcinoma with some invasion of inflamed stroma
(figure 1). Some pleomorphic cells and squamous differentiation were noted, indicating a more
aggressive behavior than what is usually seen in papillary carcinoma. Ultrasonography showed that
the thyroid gland was of normal size and that there were no masses, nodules, or cysts. Iodine-131
(131I) scintigraphy confirmed that the thyroid was normal. Cervical computed tomography (CT) scans
were performed for preoperative planning and to assess for adenopathy.

Figure 1. Patient 1. Histopathology of the excised

cyst shows the papillary thyroid carcinoma
invading the cyst wall.

After discussion with the patient, it was decided that the best course of action would be to perform a
total thyroidectomy. During surgery, the thyroid gland was found to be inflamed and attached to
surrounding structures, with no clear plane between the right lateral surface of the thyroid and the
muscles of the neck. The gland weighed 19 g and displayed chronic inflammation. The
thyroidectomy was performed with laryngeal nerve monitoring and completed uneventfully. On
pathologic examination, the gland was negative for carcinoma.
Postoperatively, the patient was kept hypothyroid and subsequently received 100 mCi of 131I for the
treatment of small foci or residual uptake in the thyroid bed. Subsequently, he was prescribed thyroid
hormone replacement therapy, and at the 15-month follow-up, he showed no evidence of local,
regional, or distant metastatic disease.
Patient 2. An 18-year-old woman with no significant medical history presented to our clinic with a
midline neck mass inferior to the hyoid bone. The mass had been noticed roughly 1 month earlier
during a routine health checkup.
Physical examination identified a mobile, 2-cm mass that moved with swallowing. The mass was
nontender and nonerythematous, and no cervical lymphadenopathy could be appreciated.
Laboratory testing confirmed that the patient was euthyroid. An ultrasonographic evaluation of the
thyroid gland detected no major abnormalities. CT demonstrated a cystic mass at the level of the
cricoid cartilage (figure 2).

Figure 2. Patient 2. Axial CT of the neck

demonstrates the TGDC at the level of the cricoid
cartilage.

The patient elected to undergo a Sistrunk procedure after a discussion of its risks and benefits.
Pathology of the excised specimen showed a well-differentiated papillary carcinoma inside a normal
TGDC.
The patient was informed of the results, and further treatment in the form of a total thyroidectomy
was offered. She elected to seek a second opinion at the Mayo Clinic. There she underwent thyroid
ultrasonography and, subsequently, a total thyroidectomy without adverse events. Pathology
revealed no cancer in the specimen.
Postoperatively, the patient underwent radioactive iodine treatment. Her follow-up records were not
available.

Discussion
Papillary carcinoma of the TGDC accounts for 1% of all primary thyroid cancers. 6 Roughly 270
cases have been reported in the English-language literature to date. 7 The rate of metastasis to
regional lymph nodes is low, occurring in only 11% of cases.8 The mean age at presentation is about
40 years,4,9 and there seems to be a slight female preponderance (3:2), which is similar to the
distribution of patients with thyroid carcinoma.3,10
With the exception of medullary carcinoma, most other types of thyroid carcinoma have been
reported in TGDCs. Second and third in frequency behind papillary cancers are mixed
papillary/follicular and squamous cell cancers, which account for roughly 7 and 5% of TGDC

carcinomas, respectively.5,11Even so, Iakovou et al in 2011 reported that only 14 cases of squamous
cell carcinoma in TGDCs had been published in the literature. 12
The diagnosis of carcinoma in a TGDC may be challenging since fine-needle aspiration biopsy
(FNAB) is often insufficient to confirm the presence of carcinoma. 13,14 Yang et al reported that of 17
cases of papillary carcinoma of the TGDC diagnosed by FNAB, the false-negative rate was 47%,
with 1 case being erroneously reported as a squamous cell carcinoma. 14
The inability of FNAB to diagnose carcinoma within the TGDC is likely attributable to the fact that
aspirates are hypocellular as a result of cyst fluid dilution. CT and magnetic resonance imaging
(MRI) of the neck may demonstrate a solid mass with invasive features, which may be useful for
clinical staging and treatment planning.15-17 The current literature supports the idea that focal
calcifications in the walls of a multiloculated cyst may be particularly concerning for carcinoma. If
FNAB results are equivocal, removal of the cyst and a detailed histopathologic analysis may be
indicated.
The consensus treatment for papillary carcinoma of the TGDC with no distant metastasis is the
Sistrunk procedure, first described in 1920. 18 It entails a total cystectomy and central hyoidectomy
along with excision of the tract superiorly to the foramen cecum. This procedure has been described
well in the literature.1
Both of our patients underwent a total thyroidectomy after the Sistrunk procedure. However, neither
had any histopathologic evidence of carcinoma within the thyroid gland. Still, we believe that this is
an acceptable surgical approach, especially when invasive disease is found on pathologic
examination of the resected specimen. As other reports have suggested, further surgical exploration
and node sampling may be indicated in the presence of significant regional lymphadenopathy.19 If
thyroidectomy is not performed, close clinical surveillance of the thyroid gland itself to detect latent
disease is prudent.
In conclusion, the cure rate for papillary carcinoma of the TGDC is favorable based on estimates
from the current literature. Because of the infrequency with which otolaryngologists encounter this
clinical situation, the establishment of a management algorithm would be supported only by case
series and literature reviews. Nevertheless, we believe that clinicians should include carcinoma of
the TGDC in the differential diagnosis of a midline neck mass, and thoroughly evaluate it and the
thyroid gland itself with tissue sampling and medical imaging.
The Sistrunk procedure remains an appropriate surgical intervention for TGDC-localized carcinoma.
Examination of local nodes and imaging of the thyroid gland may be required in cases when
multifocal disease is suspected.

References
1.

2.

Organ GM, Organ CH Jr. Thyroid gland and surgery of the thyroglossal duct: Exercise in
applied embryology. World J Surg 2000; 24 (8): 886-90.
Allard RH. The thyroglossal cyst. Head Neck Surg 1982; 5 (2): 134-46.

3.

Forest VI, Murali R, Clark JR. Thyroglossal duct cyst carcinoma: Case series. J Otolaryngol
Head Neck Surg 2011; 40 (2): 151-6.

4.

Astl J, Duskov J, Kraus J ,et al. Coincidence of thyroid tumor and thyroglossal duct
remnants. Review of the literature and presentation of three cases. Tumori 2003; 89 (3): 314-20.

5.

Ferrer C, Ferrndez A, Dualde D ,et al. Squamous cell carcinoma of the thyroglossal duct
cyst: Report of a new case and literature review. J Otolaryngol 2000; 29 (5): 311-14.

6.

Dedivitis RA, Guimares AV. Papillary thyroid carcinoma in thyroglossal duct cyst. Int Surg
2000; 85 (3): 198-201.

7.

Rossi ED, Martini M, Straccia P ,et al. Thyroglossal duct cyst cancer most likely arises from a
thyroid gland remnant. Virchows Arch 2014; 465 (1): 67-72.

8.

Yang SI, Park KK, Kim JH. Papillary carcinoma arising from thyroglossal duct cyst with
thyroid and lateral neck metastasis. Int J Surg Case Rep 2013; 4 (8): 704-7.

9.

Doshi SV, Cruz RM, Hilsinger RL Jr. Thyroglossal duct carcinoma: A large case series. Ann
Otol Rhinol Laryngol 2001; 110 (8): 734-8.

10.

Motamed M, McGlashan JA. Thyroglossal duct carcinoma. Curr Opin Otolaryngol Head Neck
Surg 2004; 12 (2): 106-9.

11.

Kennedy TL, Whitaker M, Wadih G. Thyroglossal duct carcinoma: A rational approach to

management. Laryngoscope 1998; 108 (8 Pt 1): 1154-8.

12.

Iakovou I, Konstantinidis I, Doumas A ,et al. Squamous cell carcinoma in a thyroglossal duct
cyst and 99mTc-MIBI findings. Hell J Nucl Med 2011; 14 (1): 62-4.

13.

Bardales RH, Suhrland MJ, Korourian S ,et al. Cytologic findings in thyroglossal duct
carcinoma. Am J Clin Pathol 1996; 106 (5): 615-19.

14.

Yang YJ, Haghir S, Wanamaker JR, Powers CN. Diagnosis of papillary carcinoma in a
thyroglossal duct cyst by fine-needle aspiration biopsy. Arch Pathol Lab Med 2000; 124 (1): 13942.

15.

Branstetter BF, Weissman JL, Kennedy TL, Whitaker M. The CT appearance of thyroglossal
duct carcinoma. AJNR Am J Neuroradiol 2000; 21 (8): 1547-50.

16.

Glastonbury CM, Davidson HC, Haller JR, Harnsberger HR. The CT and MR imaging
features of carcinoma arising in thyroglossal duct remnants. AJNR Am J Neuroradiol 2000; 21
(4): 770-4.

17.

Samara C, Bechrakis I, Kavadias S ,et al. Thyroglossal duct cyst carcinoma: Case report and
review of the literature, with emphasis on CT findings. Neuroradiology 2001; 43 (8): 647-9.

18.

Sistrunk WE. The surgical treatment of cysts of the thyroglossal tract. Ann Surg 1920; 71 (2):
121-4.

19.

Falvo L, Giacomelli L, Vanni B ,et al. Papillary thyroid carcinoma in thyroglossal duct cyst:
Case reports and literature review. Int Surg 2006; 91 (3): 141-6.

From the Department of Otorhinolaryngology, Mayo Clinic, Rochester, Minn. (Dr. Patel); and the
Department of Otolaryngology-Head and Neck Surgery, Rutgers Cancer Institute of New Jersey,
Rutgers Robert Wood Johnson Medical School, New Brunswick, N.J. (Dr. Sheykholeslami). The
cases described in this article occurred at the OSF Medical Group in Rockford, Ill.
Corresponding author: Neil S. Patel, MD, Department of Otorhinolaryngology, Mayo Clinic, 200 First
St., SW, Rochester, MN 55905. Email: neilsubodh@gmail.com