{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:24:43Z","timestamp":1760145883082,"version":"build-2065373602"},"reference-count":50,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"AIRC","award":["MFAG 2009\u20132012"],"award-info":[{"award-number":["MFAG 2009\u20132012"]}]},{"name":"IBISCUS onlus","award":["MFAG 2009\u20132012"],"award-info":[{"award-number":["MFAG 2009\u20132012"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Noonan syndrome (NS) is an autosomal dominant disorder that varies in severity and can involve multiple organ systems. In approximately 50% of cases, it is caused by missense mutations in the PTPN11 gene (12q24.13). NS is associated with a higher risk of cancer occurrence, specifically hematological disorders. Here, we report a case of a child who was diagnosed at birth with a transient myeloproliferative disorder (TMD). After two years, the child developed hyperdiploid B-cell precursor acute lymphoblastic leukemia (BCP-ALL), receiving a two-year course of treatment. During her continuous complete remission (CCR), a heterozygous germline mutation in the PTPN11 gene [c.218 C&gt;T (p.Thr73lle)] was identified. At the age of ten, the child presented with massive splenomegaly, hyperleukocytosis, and thrombocytopenia, resulting in the diagnosis of juvenile myelomonocytic leukemia (JMML). After an initial response to antimetabolite therapy (6-mercaptopurine), she underwent haploidentical hematopoietic stem cell transplantation (HSCT) and is currently in complete remission. The goal of this review is to gain insight into the various hematological diseases associated with NS, starting from our unique case.<\/jats:p>","DOI":"10.3390\/genes15091191","type":"journal-article","created":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T07:33:25Z","timestamp":1725953605000},"page":"1191","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature"],"prefix":"10.3390","volume":"15","author":[{"given":"Marta","family":"Arrabito","sequence":"first","affiliation":[{"name":"Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy"},{"name":"Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicol\u00f2","family":"Li Volsi","sequence":"additional","affiliation":[{"name":"Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy"},{"name":"School of Medical Genetics, University of Catania, 95100 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"La Rosa","sequence":"additional","affiliation":[{"name":"Cytogenetic-Cytofluorimetric-Molecular Biology Lab, Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, Via Santa Sofia 78, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piera","family":"Samperi","sequence":"additional","affiliation":[{"name":"Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulio","family":"Pulvirenti","sequence":"additional","affiliation":[{"name":"School of Pediatrics, University of Catania, 95100 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Cannata","sequence":"additional","affiliation":[{"name":"Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy"},{"name":"Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9369-7473","authenticated-orcid":false,"given":"Giovanna","family":"Russo","sequence":"additional","affiliation":[{"name":"Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy"},{"name":"Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy"},{"name":"School of Pediatrics, University of Catania, 95100 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4509-3066","authenticated-orcid":false,"given":"Andrea","family":"Di Cataldo","sequence":"additional","affiliation":[{"name":"Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy"},{"name":"Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy"},{"name":"School of Pediatrics, University of Catania, 95100 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2480-1799","authenticated-orcid":false,"given":"Luca","family":"Lo Nigro","sequence":"additional","affiliation":[{"name":"Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy"},{"name":"Cytogenetic-Cytofluorimetric-Molecular Biology Lab, Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, Via Santa Sofia 78, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0140-6736(12)61023-X","article-title":"Noonan syndrome","volume":"381","author":"Roberts","year":"2013","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1038\/ejhg.2011.37","article-title":"Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation","volume":"19","author":"Jongmans","year":"2011","journal-title":"Eur. 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