{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T10:06:28Z","timestamp":1781690788361,"version":"3.54.5"},"reference-count":17,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["21385"],"award-info":[{"award-number":["21385"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007363","name":"Fondazione Citt\u00e0 della Speranza","doi-asserted-by":"publisher","award":["21\/03"],"award-info":[{"award-number":["21\/03"]}],"id":[{"id":"10.13039\/100007363","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fondazione Giacomo Ascoli, Italy","award":["NA"],"award-info":[{"award-number":["NA"]}]},{"name":"Comitato Assistenza Socio-sanitaria in Oncoematologia Pediatrica, Italy","award":["NA"],"award-info":[{"award-number":["NA"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>NOTCH1\/FBXW7 (N\/F) mutational status at diagnosis is employed for T-cell lymphoblastic lymphoma (T-LBL) patients\u2019 stratification in the international protocol LBL 2018. Our aim was to validate the prognostic role of Minimal Disseminated Disease (MDD) alone and in combination with N\/F mutational status in a large retrospective series of LBL pediatric patients. MDD was analyzed in 132 bone marrow and\/or peripheral blood samples by flow cytometry. Mutations in N\/F genes were analyzed on 58 T-LBL tumor biopsies. Using the previously established cut-off of 3%, the four-year progression-free survival (PFS) was 57% for stage I\u2013III patients with MDD \u2265 3% versus 80% for patients with MDD inferior to cut-off (p = 0.068). We found a significant worsening in the four-year PFS for nonmutated (51 \u00b1 12%) compared to mutated patients (100%, p = 0.0013). Combining MDD and N\/F mutational status in a subgroup of available cases, we found a statistically significant difference in the four-year PFS for different risk groups (p = 0.0012). Overall, our results demonstrate that N\/F mutational status has a more relevant prognostic value than MDD at diagnosis. However, the combination of N\/F mutations with MDD analysis could identify patients with very aggressive disease, which might benefit from a more intensive treatment.<\/jats:p>","DOI":"10.3390\/diagnostics11091594","type":"journal-article","created":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T10:02:11Z","timestamp":1630576931000},"page":"1594","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Prognostic Role of Minimal Disseminated Disease and NOTCH1\/FBXW7 Mutational Status in Children with Lymphoblastic Lymphoma: The AIEOP Experience"],"prefix":"10.3390","volume":"11","author":[{"given":"Federica","family":"Lovisa","sequence":"first","affiliation":[{"name":"Maternal and Child Health Department, Padova University, 35128 Padova, Italy"},{"name":"Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Gallingani","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Department, Padova University, 35128 Padova, Italy"},{"name":"Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Varotto","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, 35127 Padova, Italy"},{"name":"Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padova University Hospital, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiano","family":"Pasin","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Department, Padova University, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Carraro","sequence":"additional","affiliation":[{"name":"Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padova University Hospital, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Michielotto","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Department, Padova University, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Garbin","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Department, Padova University, 35128 Padova, Italy"},{"name":"Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlotta Caterina","family":"Damanti","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Department, Padova University, 35128 Padova, Italy"},{"name":"Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4006-7317","authenticated-orcid":false,"given":"Marco","family":"Pizzi","sequence":"additional","affiliation":[{"name":"General Pathology and Cytopathology Unit, Department of Medicine-DMED, University of Padova, 35121 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele S. G.","family":"d\u2019Amore","sequence":"additional","affiliation":[{"name":"Department of Pathology, San Bortolo Hospital, 36100 Vicenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Piglione","sequence":"additional","affiliation":[{"name":"Paediatric Haematology, Department of Paediatrics, University Hospital Citt\u00e0 della Salute e della Scienza di Torino, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8813-3200","authenticated-orcid":false,"given":"Paola","family":"Muggeo","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Unit, University Hospital of Policlinico, 70120 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Buffardi","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haemato-Oncology, Santobono-Pausilipon Children\u2019s Hospital, 80123 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2803-992X","authenticated-orcid":false,"given":"Luciana","family":"Vinti","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hemato-Oncology, Ospedale Bambino Ges\u00f9, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica Maria","family":"Folsi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatrics Clinic, Spedali Civili of Brescia, 25123 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Onofrillo","sequence":"additional","affiliation":[{"name":"Paediatric Haemato-Oncology Unit, Hematology Department, Hospital of Pescara, 65124 Pescara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Biffi","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Department, Padova University, 35128 Padova, Italy"},{"name":"Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, 35127 Padova, Italy"},{"name":"Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padova University Hospital, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Buldini","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Department, Padova University, 35128 Padova, Italy"},{"name":"Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1190-3198","authenticated-orcid":false,"given":"Marta","family":"Pillon","sequence":"additional","affiliation":[{"name":"Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padova University Hospital, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4802-1866","authenticated-orcid":false,"given":"Lara","family":"Mussolin","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Department, Padova University, 35128 Padova, Italy"},{"name":"Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1111\/bjh.15793","article-title":"Lymphoblastic lymphoma in children and adolescents: Review of current challenges and future opportunities","volume":"185","author":"Burkhardt","year":"2019","journal-title":"Br. 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