Should patients with Cowden syndrome undergo prophylactic thyroidectomy?

[cowden syndrome]

Cowden syndrome (CS ) is dominantly inherited and predisposes patients to tumors in multiple organs . We characterized CS -associated malignant and benign thyroid disease .Of data from 3 ,477 prospectively recruited CS patients with known genetic analysis , we analyzed 225 PTEN mutation + patients whose treatment occurred at our center (n = 25 ) or other hospitals nationwide (n = 200 ).A total of 32 of 225 PTEN mutation + patients (14 %) had thyroid cancer : 52 % papillary , 28 % follicular-variant papillary , 14 % follicular , and 6 % anaplastic . Median age at diagnosis was 35 years compared with 49 years for Surveillance Epidemiology and End Results population data . Initial thyroid ultrasonography in 16 of 25 patients revealed thyroiditis /goiters in all >13 years age , leading to FNA in 7 (64 %), thyroidectomy in 3 (27 %), and new cancer diagnosis in 2 (18 %). Three with severe autism required intraoperative sedation for ultrasonography . A total of 9 of 25 patients were monitored after multiple partial thyroidectomies for goiters by age 42 (n = 5 ), thyroiditis , or cancer detected by age 36 (n = 3 ).PTEN mutation + patients with CS have an enormous prevalence of thyroid disease . Earlier screening may be advisable because thyroiditis and nodules are seen by the time patients reach adolescence , and cancer diagnosis occurs on average 14 years earlier than expected . Furthermore , the risks observed may justify prophylactic total thyroidectomy in select , if not all , patients , particularly those with developmental disorders .

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