Familial syndromes associated with thyroid cancer in the era of personalized medicine.

[pendred syndrome]

Well-differentiated thyroid cancer accounts for 95 % of thyroid malignancies , and 5 % of these patients will have familial disease . This compares to 25 % of patients with medullary thyroid cancer (MTC ) having a familial form ; however , this accounts for only 1 % of all patients with thyroid cancer . Most cases of familial thyroid cancer are nonmedullary (NMFTC ), and have been shown to be present in familial cancer syndromes such as familial adenomatous polyposis , Cowden syndrome , Carney complex , Pendred syndrome , and Werner syndrome . This review discusses the contemporary management of the patients with familial-syndrome-associated thyroid cancer based on their individual risks for developing thyroid cancer .Most of the progress in the genetics of familial thyroid cancer has been in patients with MTC . The mutations in patients with isolated NMFTC have not been as well defined as in MTC . They are likely autosomal dominant with reduced penetrance . The patients with these familial syndromes most likely have a susceptibility gene that increases the risk of thyroid cancer . Most of the patients with a familial syndrome and NMFTC will have papillary thyroid carcinoma , suggesting that a specific gene for papillary thyroid carcinoma may also be present . In many cases , patients have a known familial syndrome that has defined risk for thyroid cancer .Patients with familial syndromes that are associated with thyroid cancer can be individually categorized based on syndrome risks for developing thyroid cancer . The clinician must also be knowledgeable in recognizing the possibility of an underlying familial syndrome when a patient presents with thyroid cancer .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated