Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy

SUMMARY Thyroid carcinoma (TC) is rare in children, particularly in those aged < 10 years. Several studies have demonstrated a correlation between neoplasms and hyperinsulinemia and insulin resistance, which are often associated with a higher risk for and/or aggressiveness of the neoplasm. Congenital generalized lipodystrophy (CGL) with autosomal recessive inheritance is a rare disease and is characterized by the lack of adipose tissue, severe insulin resistance, and early metabolic disturbances. Here, we reported a rare case of a type 2 CGL in a girl who presented with a papillary TC (PTC) at the age of 7 years. She had no family history of TC or previous exposure to ionizing radiation. She had a generalized lack of subcutaneous fat, including the palmar and plantar regions, muscle hypertrophy, intense acanthosis nigricans, hepatomegaly, hypertriglyceridemia, severe insulin resistance, and hypoleptinemia. A genetic analysis revealed a mutation in the BSCL2 gene (p.Thr109Asnfs* 5). Ultrasound revealed a hypoechoic solid nodule measuring 1.8 × 1.0 × 1.0 cm, and fine needle aspiration biopsy suggested malignancy. Total thyroidectomy was performed, and a histopathological examination confirmed PTC with vascular invasion and parathyroid lymph node metastasis (pT3N1Mx stage). This is the first report to describe a case of differentiated TC in a child with CGL. Severe insulin resistance that is generally observed in patients with CGL early in life, especially in those with type 2 CGL, may be associated with this uncommon presentation of aggressive PTC during childhood.

Microcarcinoma papilífero da tireoide: análise em 523 tireoidectomias / Papillary thyroid microcarcinoma: study of 523 thyroidectomies

Introdução: O microcarcinoma papilífero de tireoide (MPCT) tem aumentado nas últimas décadas devido ao maior número de carcinoma não palpáveis diagnosticados através de US e punção aspirativa por agulha fina (PAAF). Objetivo: Determinar a prevalência de MPCT nos pacientes submetidos à tireoidectomia. Método: Busca retrospectiva no banco de dados de um hospital privado de 523 pacientes submetidos à tireoidectomia no período de março de 2007 a março de 2008. Foram pesquisadas características dos pacientes com MCPT, como sexo, idade e outras patologias benignas da tireoide associadas, assim como características do tumor e a prevalência de positividade dos exames PAAF e biópsia de congelação. Resultados: A prevalência do MCPT foi de 22% de todas as peças cirúrgicas ressecadas. A maioria dos pacientes era do sexo feminino (94,8%) e 73,7% tinham mais que 45 anos. A maioria (92,2%) foi submetida à tireoidectomia total. Outras patologias associadas ao MCPT foram detectadas nas peças cirúrgicas, sendo o bócio coloide adenomatoide a mais prevalente (68,5%), seguido da tireoidite de Hashimoto (34,9%), adenoma de células de Hürtlhe (4,3%), adenoma de paratireoide (3,2%) e carcinoma medular (1,1%). Houve um percentual de detecção maior na congelação (77%) do que na citologia (56%), podendo esses achados ser considerados incidentais. Conclusão: A prevalência do MCPT encontra-se entre os de maiores valores em diversas séries consultadas. As características dos pacientes com MCPT mostraram-se compatíveis com a literatura mundial em quase todos os aspectos.

Introduction: Papillary microcarcinoma (PMT) is increasing in incidence because of nonpalpable carcinoma diagnosed by ultrasound and fine needle aspiration biopsy (FNAB). Objective: To evaluate the prevalence of PMC in patients submitted to thyroidectomies. Method: It was a retrospective search in the database of a private hospital of 523 patients submitted to thyroidectomies from March 2007 to March 2008. It was also search for patient?s features, such as gender, age, benign thyroid disease associated, tumor?s features and the prevalence of PMC detected by FNAB and biopsy during operation. Results: The prevalence of PMC was 22.1%. 94.8% of cases occurred in women and 73.7% in patients older than 45 years; 92.2% of patients underwent total thyroidectomy. Other thyroid diseases associated were adenomatoid goiter, the most prevalent (68.5%), followed by Hashimoto?s thyroiditis (34.9%), Hürthle cell adenoma (4.3%) parathyroid adenoma (3.2%) and medullary carcinoma (1.1%). There was a higher detection at biopsy during operation (77%) than FNAB (56%). Conclusion: PMC presented higher prevalence than those found in others series. The others features evaluated in this study were equivalent to others studies.