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RASopathies for Radiologists.

Atsuhiko Handa1, Yuko Tsujioka1, Gen Nishimura1

  • 1From the Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA 02115 (A.H., S.A.C.); Department of Radiology, Keio University School of Medicine, Tokyo, Japan (Y.T., T.N., M.J.); Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan (Y.T., T.K.); Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan (G.N.); and Department of Radiology, University of Iowa Hospitals and Clinics, Iowa City, Iowa (T.H., T.S.S., Y.S.).

Radiographics : a Review Publication of the Radiological Society of North America, Inc
|April 11, 2024
PubMed
Summary
This summary is machine-generated.

RASopathies are rare genetic disorders caused by Ras/MAPK pathway mutations. Radiologists must understand their overlapping imaging features for multidisciplinary patient care.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Radiology

Background:

  • RASopathies are a group of rare genetic syndromes.
  • They stem from mutations in genes regulating the Ras/mitogen-activated protein kinase (MAPK) signaling pathway.
  • Collectively, RASopathies affect 1 in 1000 newborns, presenting with overlapping clinical features.

Purpose of the Study:

  • To introduce the concept of RASopathies.
  • To highlight the imaging similarities and differences among major RASopathies.
  • To emphasize the importance of radiologist awareness in multidisciplinary care.

Main Methods:

  • Review of major RASopathies.
  • Analysis of overlapping and diverse imaging features.
  • Emphasis on Ras/MAPK pathway dysregulation.

Main Results:

  • RASopathies share common clinical and imaging features due to Ras/MAPK pathway dysregulation.
  • Significant phenotypic variability exists within and across RASopathies.
  • Tumors, both benign and malignant, are associated with certain RASopathies.

Conclusions:

  • Radiologists must be aware of RASopathies for effective multidisciplinary care.
  • Imaging plays a crucial role in diagnosing and managing RASopathies.
  • Medications targeting the Ras/MAPK pathway show potential for treating RASopathies.