Familial follicular cell tumors: classification and morphological characteristics.

[pendred syndrome]

Familial follicular cell-derived well-differentiated thyroid cancer , papillary (PTC ), and follicular thyroid carcinomas (FTC ), accounts for 95 % of thyroid malignancies . The majority of are sporadic , and at least 5 % of these patients will have familial disease . Familial thyroid syndromes are classified into familial medullary thyroid carcinoma (FMTC ), derived from calcitonin-producing C cells , and familial follicular cell tumors or non-medullary thyroid carcinoma (FNMTC ), derived from follicular cells . Twenty -five percent of patients with medullary thyroid cancer (MTC ) have a familial form ; however , this accounts for only 1 % of all patients with thyroid cancer . The familial follicular cell-derived lesions or familial non-medullary thyroid cancer can be divided into two clinical-pathological groups . The first group includes familial syndromes characterized by a predominance of non-thyroidal tumors , such as familial adenomatous polyposis (FAP ), PTEN -hamartoma tumor syndrome (Cowden disease ; PHTS ), Carney complex , Werner syndrome , and Pendred syndrome . The second group includes familial syndromes characterized by predominance of papillary thyroid carcinoma (PTC ), such as pure fPTC , fPTC associated with papillary renal cell carcinoma , and fPTC with multinodular goiter . Most of the progress in the genetics of familial thyroid cancer has been in patients with MTC . This is usually a component of multiple endocrine neoplasias IIA or IIB , or as pure familial medullary thyroid carcinoma syndrome . The genetic events in the familial C-cell-derived tumors are known and genotype-phenotype correlations are well established . The mutations in patients with isolated NMFTC have not been as well defined as in MTC . In many cases , patients have a known familial syndrome that has defined risk for thyroid cancer . The clinician must be knowledgeable in recognizing the possibility of an underlying familial syndrome when a patient presents with thyroid cancer . Some characteristic thyroid morphologic findings should alert the pathologist of a possible familial cancer syndrome , which may lead to further molecular genetics evaluation .

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