RESUMO
PTEN hamartoma tumor syndrome (PHTS) is a rare genetic cancer and tumor predisposition syndrome. Due to the wide spectrum of clinical manifestations and variable age at onset, the pathways leading to a PHTS diagnosis are difficult and highly variable. Many patients were found to have PHTS after a cancer diagnosis, missing the opportunity of prevention or enhanced cancer screening. This retrospective study evaluated a PHTS cohort followed in a high-risk surveillance clinic in a comprehensive cancer institution. A significant portion of the patients (60.9%, 14/23) had at least one cancer diagnosis (average age 34.6 years at diagnosis). A significant portion (78.3%, 18/23) were affected with clinically significant goiters (age 27.9 years), and many (60.9%, 14/23) had partial or total thyroidectomy (age 27.1 years). The average age at goiter diagnosis or thyroidectomy is younger than a cancer diagnosis. In 12 individuals who were affected with clinically significant goiter and cancer, all cancers were diagnosed after the thyroid disease (6.3 years). As clinically significant thyroid nodules in childhood or early young adulthood are common in PHTS, but uncommon for general population, these early onset thyroid nodules may alert the clinician to initiate PHTS-targeted evaluation and genetic testing.
Assuntos
Bócio , Síndrome do Hamartoma Múltiplo , Nódulo da Glândula Tireoide , Humanos , Adulto Jovem , Adulto , Síndrome do Hamartoma Múltiplo/diagnóstico , Síndrome do Hamartoma Múltiplo/genética , Síndrome do Hamartoma Múltiplo/cirurgia , Nódulo da Glândula Tireoide/patologia , Tireoidectomia , Estudos Retrospectivos , PTEN Fosfo-Hidrolase/genéticaAssuntos
Anestesia Geral/métodos , Anestesia Local/métodos , Malformações Arteriovenosas/cirurgia , Síndrome do Hamartoma Múltiplo/cirurgia , Dor Pós-Operatória/tratamento farmacológico , Doenças Raras/cirurgia , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Analgesia Epidural/métodos , Anestesia Geral/instrumentação , Anestésicos Locais/administração & dosagem , Determinação da Pressão Arterial/métodos , Criança , Ecocardiografia , Endoscopia do Sistema Digestório/efeitos adversos , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Humanos , Máscaras Laríngeas , Laringoscópios , Laringoscopia/instrumentação , Laringoscopia/métodos , Imageamento por Ressonância Magnética , Masculino , Monitorização Intraoperatória/métodos , Dor Pós-Operatória/etiologia , Doenças Raras/diagnóstico por imagem , Coxa da Perna/irrigação sanguínea , Coxa da Perna/cirurgiaRESUMO
It has long been recognized that compared with their age- and sex-matched controls, survivors of hereditary retinoblastoma have a considerably higher risk of the development of second malignancies (10% at 20 years and 15% at 30 years of follow-up), including osteosarcoma, leiomyosarcoma, melanoma, fibrosarcoma, and other rare spindle cell sarcomas. Patients with the nongenetic variety of retinoblastoma do not particularly seem to have an increased incidence of other malignancies than the general population. However, it should be noted that a child with unilateral disease carries a 15% chance of having germline mutation. The cumulative mortality rate from second malignancies was 1.5% at 40 years after unilateral retinoblastoma diagnosis and 26% for bilateral cases in a large survey of 1458 patients. A child with unilateral retinoblastoma, café au lait spots, hairy nevus, and grouped pigmentation of retina in the fellow eye is described who furthermore developed acute leukemia and polyposis coli.