hrp0097p1-188 | Thyroid | ESPE2023

DICER1 Syndrome and pediatric thyroid carcinoma

Abbate Marco , Vincenzi Gaia , Maggiore Riccardo , Schiavo Lena Marco , Tarantola Giulia , Teresa Petralia Ilenia , Matilde Tura Adele , Grazia Patricelli Maria , Barera Graziano , Cristina Vigone Maria

DICER1, a gene located on chromosome 14q32.13, encodes a protein ribonuclease (RNase) IIIb that plays a central regulatory role in miRNA processing. DICER1 syndrome has an autosomal dominant inheritance and predisposes affected individuals to a wide variety of tumors, both benign and malignant. We describe the case of a 6-year-old girl, carrier of a DICER1 germline mutation, and affected by a differentiated thyroid carcinoma. At the age of 6 a first thyroid ultrasound revealed...

hrp0097fc12.2 | Thyroid | ESPE2023

Thyroid function analysis in 48 patients affected by severe combined immunodeficiency caused by adenosine deaminase deficiency

Tarantola Giulia , Pajno Roberta , Vincenzi Gaia , Barzaghi Federica , Migliavacca Maddalena , Abbate Marco , Sophia Fratini Elena , Teresa Petralia Ilenia , Ippolito Alessia , Pia Cicalese Maria , Cristina Vigone Maria , Barera Graziano , Aiuti Alessandro

Background: Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that primarily affects the immune system and lymphocyte development, causing a severe combined immunodeficiency (ADA-SCID). However, the accumulation of toxic metabolites occurs in other organs and systems. Since most ADA-SCID patients undergo definitive treatment with Gene Therapy (GT) or allogeneic haematopoietic stem cell transplantation (HSCT), preceded by conditioning (either...