6 documents found, page 1 of 1

Identification of novel candidate predisposing genes in familial nonmedullary t...

Funding Information: The authors are thankful to the patients and their families for their cooperation. The authors are thankful to Liga Portuguesa Contra o Cancro\u2014N\u00FAcleo Regional do Sul (LPCC\u2010NRS) that granted the researcher Marta Pojo. This study was funded by LPCC\u2010NRS, Televis\u00E3o Independente, Instituto Portugu\u00EAs de Oncologia de Lisboa Francisco Gentil \u2010 E.P.E (IPOLFG), iNOV...

Identification of Germline FOXE1 and Somatic MAPK Pathway Gene Alterations in P...

Germline variants in the FOXE1 transcription factor have been associated with thyroid ectopy, cleft palate (CP) and thyroid cancer (TC). Here, we aimed to clarify the role of FOXE1 in Portuguese families (F1 and F2) with members diagnosed with malignant struma ovarii (MSO), an ovarian teratoma with ectopic malignant thyroid tissue, papillary TC (PTC) and CP. Two rare germline heterozygous variants in the FOXE1 ...

Clinical and molecular characterisation of metastatic papillary thyroid cancer ...

Funding Information: This study was funded by iNOVA4Health Research Unit (LISBOA-01-0145-FEDER-007344; UID/Multi/00462; UIDB/04462/2020), a program co-funded by Fundação para a Ciência e Tecnologia/Ministério da Ciência e do Ensino Superior, Sociedade Portuguesa de Endocrinologia, Diabetes e Metabolismo (SPEDM), and Instituto Português de Oncologia de Lisboa Francisco Gentil (IPOLFG). J.S.-P. was supported by i...

CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead...

Publisher Copyright: © 2024 The Authors; Approximately 5 to 15% of nonmedullary thyroid cancers (NMTC) present in a familial form (familial nonmedullary thyroid cancers [FNMTC]). The genetic basis of FNMTC remains largely unknown, representing a limitation for diagnostic and clinical management. Recently, germline mutations in DNA repair-related genes have been described in cases with thyroid cancer (TC), sugge...

Sarcomatoid Spermatocytic Tumour: Report of a Rare Case and Literature Review

Spermatocytic tumour (ST) accounts for 1% of testicular germ cell tumours. It is an indolent neoplasm with good prognosis. In approximately 6% of STs, sarcomatous dedifferentiation may occur, portending an aggressive behaviour and representing a significant diagnostic challenge that can lead to its misdiagnosis. Herein, we report the clinicopathological features of a patient with a sarcomatoid spermatocytic tum...

Diffuse sclerosing variant of papillary thyroid carcinoma: outcomes of 33 cases