Myeloproliferative disorder in a patient with RIT1‐associated Noonan syndrome: Case report and literature review

Pediatric Blood & CancerVolume 71, Issue 2 e30780 LETTER TO THE EDITOR Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review Kyogo Suzuki, Corresponding Author Kyogo Suzuki [email protected] orcid.org/0000-0001-8643-2987 Department of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan Correspondence Kyogo Suzuki, Department of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashi-dai, Fuchu, Tokyo 1838561, Japan. Email: [email protected]Search for more papers by this authorManabu Wakamatsu, Manabu Wakamatsu Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, JapanSearch for more papers by this authorYoshifumi Ito, Yoshifumi Ito Department of Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorMiki Ishikawa, Miki Ishikawa Department of Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorAkihiro Shimotakahara, Akihiro Shimotakahara orcid.org/0000-0002-4137-934X Department of Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorHiroshi Futagawa, Hiroshi Futagawa Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorYusuke Yamamoto, Yusuke Yamamoto orcid.org/0000-0001-5292-7228 Department of Cardiovascular Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorHiroki Nagamine, Hiroki Nagamine Department of Cardiology, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorOsamu Saito, Osamu Saito Department of Pediatric Emergency and Critical Care Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorHideki Muramatsu, Hideki Muramatsu Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, JapanSearch for more papers by this authorYuki Yuza, Yuki Yuza Department of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this author Kyogo Suzuki, Corresponding Author Kyogo Suzuki [email protected] orcid.org/0000-0001-8643-2987 Department of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan Correspondence Kyogo Suzuki, Department of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashi-dai, Fuchu, Tokyo 1838561, Japan. Email: [email protected]Search for more papers by this authorManabu Wakamatsu, Manabu Wakamatsu Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, JapanSearch for more papers by this authorYoshifumi Ito, Yoshifumi Ito Department of Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorMiki Ishikawa, Miki Ishikawa Department of Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorAkihiro Shimotakahara, Akihiro Shimotakahara orcid.org/0000-0002-4137-934X Department of Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorHiroshi Futagawa, Hiroshi Futagawa Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorYusuke Yamamoto, Yusuke Yamamoto orcid.org/0000-0001-5292-7228 Department of Cardiovascular Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorHiroki Nagamine, Hiroki Nagamine Department of Cardiology, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorOsamu Saito, Osamu Saito Department of Pediatric Emergency and Critical Care Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorHideki Muramatsu, Hideki Muramatsu Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, JapanSearch for more papers by this authorYuki Yuza, Yuki Yuza Department of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this author First published: 27 November 2023 https://doi.org/10.1002/pbc.30780Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Supporting Information Filename Description pbc30780-sup-0001-figureS1.docx295.7 KB Supporting Information pbc30780-sup-0002-tableS1.docx32.5 KB Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. REFERENCES 1Noonan JA. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child. 1968; 116(4): 373-380. 10.1001/archpedi.1968.02100020377005 CASPubMedWeb of Science®Google Scholar 2Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013; 381(9863): 333-342. 10.1016/S0140-6736(12)61023-X CASPubMedWeb of Science®Google Scholar 3Gupta AK, Meena JP, Chopra A, Tanwar P, Seth R. Juvenile myelomonocytic leukemia—a comprehensive review and recent advances in management. Am J Blood Res. 2021; 11(1): 1-21. CASPubMedWeb of Science®Google Scholar 4Arber DA, Orazi A, Hasserjian RP, et al. International consensus classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022; 140(11): 1200-1228. 10.1182/blood.2022015850 CASPubMedWeb of Science®Google Scholar 5Strullu M, Caye A, Lachenaud J, et al. Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet. 2014; 51(10): 689-697. 10.1136/jmedgenet-2014-102611 CASPubMedWeb of Science®Google Scholar 6Mason-Suares H, Toledo D, Gekas J, et al. Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. Eur J Hum Genet. 2017; 25(4): 509-511. 10.1038/ejhg.2016.202 CASPubMedWeb of Science®Google Scholar 7Aoki Y, Niihori T, Banjo T, et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013; 93(1): 173-180. 10.1016/j.ajhg.2013.05.021 CASPubMedWeb of Science®Google Scholar 8Cave H, Caye A, Ghedira N, et al. Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. Eur J Hum Genet. 2016; 24(8): 1124-1131. 10.1038/ejhg.2015.273 CASPubMedWeb of Science®Google Scholar 9Nemcikova M, Vejvalkova S, Fencl F, Sukova M, Krepelova A. A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature. Eur J Pediatr. 2016; 175(4): 587-592. 10.1007/s00431-015-2658-6 CASPubMedWeb of Science®Google Scholar 10Aly SA, Boyer KM, Muller BA, Marini D, Jones CH, Nguyen HH. Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: expanding the phenotype and review of the literature. Mol Genet Genomic Med. 2020; 8(7):e1253. 10.1002/mgg3.1253 PubMedWeb of Science®Google Scholar 11van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet. 1994; 53(2): 187-191. 10.1002/ajmg.1320530213 PubMedWeb of Science®Google Scholar 12Dori Y, Smith C, Pinto E, et al. Severe lymphatic disorder resolved with MEK inhibition in a patient with Noonan syndrome and SOS1 mutation. Pediatrics. 2020; 146(6):e20200167. 10.1542/peds.2020-0167 PubMedWeb of Science®Google Scholar 13Nakano TA, Rankin AW, Annam A, et al. Trametinib for refractory chylous effusions and systemic complications in children with Noonan syndrome. J Pediatr. 2022; 248: 81-88.e1. 10.1016/j.jpeds.2022.05.030 CASPubMedWeb of Science®Google Scholar 14Hribernik I, Brooks T, Dunlop-Jones A, Bentham JR. Successful treatment of refractory chylothorax with MEK inhibitor trametinib in a child with Noonan syndrome: case report. Eur Heart J Case Rep. 2023; 7(4):ytad190. Google Scholar 15Kratz CP, Niemeyer CM, Castleberry RP, et al. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood. 2005; 106(6): 2183-2185. 10.1182/blood-2005-02-0531 CASPubMedWeb of Science®Google Scholar Volume71, Issue2February 2024e30780 ReferencesRelatedInformation