{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T08:35:11Z","timestamp":1773995711555,"version":"3.50.1"},"reference-count":10,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T00:00:00Z","timestamp":1773964800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>DiGeorge syndrome is a rare genetic disorder with variable phenotypic and immunologic features associated to an increased risk of malignancy. Hemophagocytic lymphohistiocytosis (HLH) is a rare hyperinflammatory condition that can be triggered by infectious complications in immunodeficient patients like those with DGS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case<\/jats:title>\n                    <jats:p>\n                      We report the case of a 20-year-old female with intellectual and motor disabilities who was diagnosed with non-familial HLH at age of 12 months and underwent allogeneic hematopoietic stem cell transplantation due to early disease reactivation. Despite resolution of HLH and post-transplant GVHD, the patient\u2019s psychomotor delay persisted, and dysmorphic features became more pronounced. A an array-CGH on her fibroblasts was performed and identified a partial\n                      <jats:italic>de novo<\/jats:italic>\n                      deletion on chromosome 22, consistent with DiGeorge Syndrome (DGS). At 15 years, imaging performed because of persistent and worsening back pain, revealed an intraneural\/intraradicular atypical neurofibroma which was partially resected leading to symptoms disappearance.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This is the first report of a case of DGS with early onset HLH and late occurrence of a neoplasm of uncertain biological potential. Careful clinical monitoring is essential due to the variability in clinical manifestations and level of immune alteration.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fonc.2026.1771627","type":"journal-article","created":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T05:22:45Z","timestamp":1773984165000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome"],"prefix":"10.3389","volume":"16","author":[{"given":"Ramona","family":"Tallone","sequence":"first","affiliation":[{"name":"Diagnosis, Observation, and Prevention after Oncological therapy (D.O.P.O.) Clinic, Department of Pediatric Hematology and Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concetta","family":"Micalizzi","sequence":"additional","affiliation":[{"name":"Hematology Unit, Department of Pediatric Hematology and Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maura","family":"Faraci","sequence":"additional","affiliation":[{"name":"Hematopoietic Stem Cell Transplantation Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"De Marco","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[{"name":"Genomics and Clinical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Beccaria","sequence":"additional","affiliation":[{"name":"Diagnosis, Observation, and Prevention after Oncological therapy (D.O.P.O.) 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