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The Dark Side of Activated Phosphoinositide 3-Kinase-δ Syndrome 2: A Story Rewritten through FDG-PET.
Catelli, Arianna; Nanni, Cristina; Mulè, Rita; Zinzani, Pier Luigi; Sabattini, Elena; Lanari, Marcello; Conti, Francesca.
Afiliación
  • Catelli A; Specialty School of Paediatrics-Alma Mater Studiorum, University of Bologna, 40138 Bologna, Italy.
  • Nanni C; Nuclear Medicine, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
  • Mulè R; Internal Medicine and Rheumatology Unit, AUSL Bologna-IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
  • Zinzani PL; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", 40138 Bologna, Italy.
  • Sabattini E; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy.
  • Lanari M; Hematopathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
  • Conti F; Pediatric Emergency Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
J Clin Med ; 13(8)2024 Apr 11.
Article en En | MEDLINE | ID: mdl-38673479
ABSTRACT

Background:

Activated phosphoinositide 3-kinase-δ syndrome 2 (APDS2) is characterized by lymphoproliferation and increased risk of malignancy. FDG-PET/CT may represent a helpful diagnostic tool for differentiating these clinical features and correctly diagnosing inborn errors of immunity (IEI). Case report We present the case of a female patient diagnosed with Hodgkin's lymphoma at 19 years of age, although atypical imaging aspects emerged baseline FDG-PET/CT revealed several hot lymph nodes with a symmetrical distribution, and increased tracer uptake in spleen, axial, and appendicular bone marrow. Imaging repeated after chemotherapy and autologous stem cell transplantation showed persistent increased FDG uptake at multiple supradiaphragmatic nodes and in bone marrow. After the diagnosis of APDS2 and rapamycin treatment, FDG-PET/CT confirmed complete metabolic normalization of all sites.

Conclusions:

In the IEI scenario, FDG-PET/CT plays an effective role in differentiating malignant proliferation and immune dysregulation phenotypes. Atypical patterns at FDG-PET/CT should be interpreted as a red flag for the need of an early immunological evaluation.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Clin Med Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Clin Med Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza