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Myeloproliferative disorder in a patient with RIT1 -associated Noonan syndrome: a case report and literature review
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  • Kyogo Suzuki,
  • Manabu Wakamatsu,
  • Yoshifumi Ito,
  • Miki Ishikawa,
  • Akihiro Shimotakahara,
  • Hiroshi Futagawa,
  • Yusuke Yamamoto,
  • Hiroki Nagamine,
  • Osamu Saito,
  • Hideki Muramatsu,
  • Yuki Yuza
Kyogo Suzuki
Tokyo Toritsu Shoni Sogo Iryo Center Shinseijika

Corresponding Author:kyougo_suzuki@tmhp.jp

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Manabu Wakamatsu
Nagoya Daigaku
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Yoshifumi Ito
Tokyo Toritsu Shoni Sogo Iryo Center Shinseijika
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Miki Ishikawa
Tokyo Toritsu Shoni Sogo Iryo Center Shinseijika
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Akihiro Shimotakahara
Tokyo Toritsu Shoni Sogo Iryo Center Shinseijika
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Hiroshi Futagawa
Tokyo Toritsu Shoni Sogo Iryo Center Shinseijika
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Yusuke Yamamoto
Tokyo Toritsu Shoni Sogo Iryo Center Shinseijika
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Hiroki Nagamine
Tokyo Toritsu Shoni Sogo Iryo Center Shinseijika
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Osamu Saito
Tokyo Toritsu Shoni Sogo Iryo Center Kyumei Kyukyuka
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Hideki Muramatsu
Nagoya Daigaku
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Yuki Yuza
Tokyo Toritsu Shoni Sogo Iryo Center Shinseijika
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Abstract

Myeloproliferative disorder (MPD) is a rare complication in individuals with Noonan syndrome (NS) and an RIT1 pathogenic variant; only three cases have previously been reported. However, this condition can be life-threatening. In the present case, a neonate with a massive capillary leak and compromised general condition caused by aggressive MPD, we employed cytoreductive chemotherapy using low-dose cytarabine, which proved to be a valuable therapeutic intervention. For patients presenting with suspected MPD and exhibiting features associated with NS early in life, genetic testing that includes sequencing of RIT1 may confer significant benefits to diagnosis and disease management.