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Review
. 2023 Dec 6;12(24):7525.
doi: 10.3390/jcm12247525.

C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature

Davide Ferrari  1 , Carla Pandozzi  1 , Alessia Filice  1 , Christopher Nardi  1 , Alessia Cozzolino  1 , Rossella Melcarne  2 , Laura Giacomelli  3 , Marco Biffoni  3 , Cira Di Gioia  4 , Elisabetta Merenda  4 , Giulia Del Sindaco  5   6 , Angela Pagnano  5   6 , Riccardo Pofi  7 , Elisa Giannetta  1
Affiliations
Review

C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature

Davide Ferrari et al. J Clin Med. .

Abstract

Hypercalcitoninaemia has been described in patients with pseudohypoparathyroidism (PHP) type 1A and 1B. Elevated calcitonin levels are thought to result from impaired Gsα receptor signaling, leading to multiple hormone resistance. Evidence on the risk of medullary thyroid carcinoma (MTC) or C-cell hyperplasia in PHP patients with hypercalcitoninaemia is lacking. A 43-year-old Caucasian man was referred to our endocrinology clinic for chronic hypocalcemia associated with elevated serum parathormone levels and a single cystic thyroid nodule. The patient did not show skeletal deformities, and screening for concomitant hormone resistances was negative, except for the presence of elevated serum calcitonin levels. The workup led to a molecular diagnosis of sporadic PHP1B. Fine needle aspiration of the thyroid nodule was not diagnostic. The calcium stimulation test yielded an abnormal calcitonin response. Given the scarcity of data on the risk of thyroid malignancy in PHP and calcium stimulation test results, total thyroidectomy was performed. Histological examination revealed cystic papillary thyroid cancer in a background of diffuse C-cell hyperplasia. To our knowledge, we are the first to describe a rare form of thyroid cancer combined with C-cell hyperplasia in a patient with PHP and hypercalcitoninaemia. In the present case, a mere receptor resistance might not fully explain the elevated calcitonin levels, suggesting that hypercalcitoninaemia should be carefully evaluated in PHP patients, especially in the case of concomitant thyroid nodules. Further studies on larger cohorts are needed to elucidate this topic.

Keywords: C-cell hyperplasia; calcitonin; hypercalcitoninaemia; papillary thyroid cancer; pseudohypoparathyroidism.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Fahr syndrome. CT scan showing bilateral calcifications of the basal ganglia, particularly present in the dorsal thalamus, globus pallidus, and putamen areas.
Figure 2
Figure 2
Histological examination of total thyroidectomy showing diffused C-cell hyperplasia and cystic papillary thyroid tumor. (A) Hematoxylin and eosin section showing C-cell hyperplasia 2×; (B) immunohistochemical staining with anti-calcitonin antibody 4×; (C) hematoxylin and eosin sections showing cystic papillary carcinoma 4×; (D) immunohistochemical staining with anti-HMBE1 antibody 4×.
Figure 3
Figure 3
Ultrasound examination of the anterior neck region before (a) (with focus on the thyroid nodule) and after (b) thyroidectomy (with the “+” symbols delineating the size of the inhomogeneous area in left thyroid lodge attributable to post-surgical remodeling outcomes).
Figure 3
Figure 3
Ultrasound examination of the anterior neck region before (a) (with focus on the thyroid nodule) and after (b) thyroidectomy (with the “+” symbols delineating the size of the inhomogeneous area in left thyroid lodge attributable to post-surgical remodeling outcomes).
Figure 4
Figure 4
PRISMA flowchart of literature search, determination of eligibility, and inclusion in the present review of literature.
See this image and copyright information in PMC

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