• Ahmed Imran Siddiqi 1. Shaukat Khanam Hospital 2. University College London Hospital, London UK.


The natural history and inheritance of familial papillary thyroid carcinoma (FPTC) remain unclear. A specific genetic defect responsible for this condition and its inheritance is yet to be established. The penetrance, mode of inheritance and treatment of this familial thyroid condition are different from other familial thyroid conditions (familial medullary thyroid cancer). Presented here is a family of four sisters in which three developed multifocal PTC. A 47-year-old lady presented with incidental finding of multinodular goitre and normal thyroid function. She had three other sisters who were diagnosed with PTC at age 46, 48 and 49 years. Detailed clinical history of her sisters was gathered from them over telephone as they all moved to different parts of world in their twenties. Literature review was carried out to find similar patients reported in literature. Environmental factors were less important in the development of PTC in this family. It was also interesting that all three were diagnosed with the condition at a very similar age. FPTC behaviour was not more aggressive than sporadic form of disease. There is not enough evidence in literature to suggest prophylactic thyroidectomy in relatives of patients with PTC. Since the exact inheritance pattern of this condition is not known, detailed family history is important in patients with thyroid disorders to identify high-risk patients. Genetic factors are much more important than environmental factors in the development of this condition. The first-degree relatives should be assessed clinically for further investigations if two individuals in the same family develop the condition at similar age.

Key words: Familial follicular thyroid cancer, familial papillary thyroid cancer, papillary thyroid cancer

Author Biography

Ahmed Imran Siddiqi, 1. Shaukat Khanam Hospital 2. University College London Hospital, London UK.
Diabetes & Endocrinology and Internal medicine


Davies L, Welch HG. Increasing incidence of thyroid cancer in the United States, 1973-2002. JAMA 2006;295:2164-7.

Davies L, Welch HG. Epidemiology of head and neck cancer in the United States. Otolaryngol Head Neck Surg 2006;135:451-7.

Bonora E, Tallini G, Romeo G. Genetic predisposition to familial nonmedullary thyroid cancer: An update of molecular findings and state-of-the-art studies. J Oncol 2010;2010:385206.

Oakley GM, Curtin K, Pimentel R, et al. Establishing a familial basis for papillary thyroid carcinoma using the Utah population database. JAMA Otolaryngol Head Neck Surg 2013;139:1171-4.

Khan A, Smellie J, Nutting C, et al. Familial nonmedullary thyroid cancer: A review of the genetics. Thyroid 2010;20:795-801.

Nosé V. Familial thyroid cancer: A review. Mod Pathol 2011;24 Suppl 2:S19-33.

Musholt TJ, Musholt PB, Petrich T, et al. Familial papillary thyroid carcinoma: Genetics, criteria for diagnosis, clinical features, and surgical treatment. World J Surg 2000;24:1409-17.

Nikiforov YE, Nikiforova MN. Molecular genetics and diagnosis of thyroid cancer. Nat Rev Endocrinol 2011;7:569-80.

Shifrin AL, Ogilvie JB, Stang MT, et al. Single nucleotide polymorphisms act as modifiers and correlate with the development of medullary and simultaneous medullary/ papillary thyroid carcinomas in 2 large, non-related families with the RET V804M proto-oncogene mutation. Surgery


McKay JD, Lesueur F, Jonard L, et al. Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21. Am J Hum Genet 2001;69:440-6.

Cantara S, Pisu M, Frau DV, et al. Telomere abnormalities and chromosome fragility in patients affected by familial papillary thyroid cancer. J Clin Endocrinol Metab 2012;97:E1327-31.

Bignell GR, Canzian F, Shayeghi M, et al. Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. Am J Hum Genet 1997;61:1123-30.

Bakhsh A, Kirov G, Gregory JW, et al. A new form of familial multi-nodular goitre with progression to differentiated thyroid cancer. Endocr Relat Cancer 2006;13:475-83.

Liao S, Song W, Liu Y, et al. Familial multinodular goiter syndrome with papillary thyroid carcinomas: Mutational analysis of the associated genes in 5 cases from 1 Chinese family. BMC Endocr Disord 2013;13:48.

How to Cite
Siddiqi AI. FAMILIAL PAPILLARY THYROID CARCINOMA: A CASE SERIES. J Cancer Allied Spec [Internet]. 2017Apr.1 [cited 2023Mar.28];3(1). Available from: https://journals.sfu.ca/jcas/index.php/jcas/article/view/103