RESUMEN
INTRODUCTION: Poorly differentiated thyroid carcinoma (PDTC) is an uncommon high-grade carcinoma of follicular cell origin that is usually overlooked on preoperative fine-needle aspiration (FNA) due to its rarity and cytomorphological overlap with follicular-patterned neoplasms. Definitive diagnosis of PDTC usually requires histologic examination of the resected thyroid tumor. Herein, we describe the cytological and architectural findings of histologically confirmed PDTC cases. MATERIALS AND METHODS: A search for all thyroid FNAs with a corresponding surgical diagnosis of PDTC was performed. Surgical diagnoses were reviewed and confirmed using the Turin criteria. In addition, the control group consisted of indeterminate thyroid nodules (FLUS [follicular lesion of undetermined significance] and FN [follicular neoplasm]) that were either benign or well-differentiated thyroid tumors on resection. The PDTC and control groups were both subjected to cytological assessment using specific cytological and architectural parameters, which included cellularity, growth pattern, mitoses, necrosis, chromatin change, discohesion, and anisonucleosis. RESULTS: A total of 36 thyroid FNAs were included in the study. This consisted of 12 histologically confirmed PDTC FNAs and 24 indeterminate thyroid FNAs (FLUS and FN, 12 each). The most frequent findings among PDTC groups were hypercellularity (75%), trabecular/insular growth pattern (58%), branching capillaries (67%), and cellular discohesion (92%). Necrosis (25%), ≥3 mitoses (50%), and anisonucleaosis (42%) were less frequently observed. A peculiar finding was the presence of adenoid cystic carcinoma-like globules in 50% of PDTC cases. Certain findings such as colloid, necrosis, mitoses, and cellular discohesion were helpful in differentiating the two groups. CONCLUSIONS: Thyroid fine-needle aspiration remains an essential diagnostic/triage tool for most thyroid nodules/tumors. PDTC can be diagnosed or at least suspected preoperatively based on the demonstration of certain architectural and cytological alterations. Although mitoses and necroses are not always readily identified, an elevated Ki-67 labeling expression could provide additional clues to the diagnosis in some cases.
Asunto(s)
Adenocarcinoma Folicular , Neoplasias de la Tiroides , Nódulo Tiroideo , Humanos , Nódulo Tiroideo/diagnóstico , Nódulo Tiroideo/patología , Biopsia con Aguja Fina , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/patología , Adenocarcinoma Folicular/diagnóstico , Adenocarcinoma Folicular/patología , NecrosisRESUMEN
The management of immune thrombocytopenic purpura (ITP) involves several lines of therapy such as corticosteroids and intravenous immunoglobulin. With the emergence of novel therapies such as thrombopoietin receptor agonists (TPO-RAs), there has been a shift in treatment modalities. Eltrombopag and romiplostim have proven to be effective in the management of ITP through clinical studies, but their safety in pregnancy remains uncertain. The purpose of the study is to review the literature to evaluate the safety of TPO-RAs in pregnant women. Ten case reports and a cohort study pertaining to the use of TPO-RAs in pregnancy were obtained. According to the reported cases and prospective study, the use of eltrombopag and romiplostim appears to be relatively safe in the first, second, and third trimesters, as there were no reported congenital malformations. Low fetal birth weight has been observed following the administration of eltrombopag during the second trimester, whereas preterm birth has occurred following the administration of eltrombopag in the third trimester. Eltrombopag and romiplostim seem relatively safe. Further studies are necessary to clarify their safety during pregnancy.
Asunto(s)
Nacimiento Prematuro , Púrpura Trombocitopénica Idiopática , Embarazo , Recién Nacido , Femenino , Humanos , Receptores de Trombopoyetina/agonistas , Receptores de Trombopoyetina/uso terapéutico , Estudios de Cohortes , Estudios Prospectivos , Nacimiento Prematuro/tratamiento farmacológico , Trombopoyetina/uso terapéutico , Púrpura Trombocitopénica Idiopática/tratamiento farmacológicoRESUMEN
PURPOSE: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly. METHODS: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes. RESULTS: In this study, we describe 125 families with ciliopathies and show that deleterious variants in previously reported genes, including cryptic splicing variants, account for 87% of cases. Additionally, we further support a number of previously reported candidate genes (BBIP1, MAPKBP1, PDE6D, and WDPCP), and propose nine novel candidate genes (CCDC67, CCDC96, CCDC172, CEP295, FAM166B, LRRC34, TMEM17, TTC6, and TTC23), three of which (LRRC34, TTC6, and TTC23) are supported by functional assays that we performed on available patient-derived fibroblasts. From a phenotypic perspective, we expand the phenomenon of allelism that characterizes ciliopathies by describing novel associations including WDR19-related Stargardt disease and SCLT1- and CEP164-related Bardet-Biedl syndrome. CONCLUSION: In this cohort of phenotypically and molecularly characterized ciliopathies, we draw important lessons that inform the clinical management and the diagnostics of this class of disorders as well as their basic biology.