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Atypical Spitzoid Tumor Study

Information for Patients

Study at a Glance

Active and enrolling new participants

National Cancer Institute's
Division of Cancer Epidemiology and Genetics

Clinical Center in Bethesda, Maryland

Contact the research team by phone at 800-518-8474 or by email at

About the study

This study seeks to learn more about how genetic and environmental factors contribute to the development of atypical spitzoid tumors. Results from this study could improve prevention and treatment.

Atypical spitzoid tumors develop from cells in the skin called melanocytes, the same cell type that can transform into an aggressive type of skin cancer called melanoma. A subset of atypical spitzoid tumors in children and adolescents will behave aggressively like adult-type melanoma. 

Who is able to join 

  • Anyone with an atypical spitzoid/Spitz tumor or spitzoid/Spitz melanoma diagnosed before the age of 21
  • Biological parents of individuals with atypical spitzoid/Spitz tumor or melanoma
  • Read the full description of eligibility criteria on the Clinical Center website

What to expect

Photo of atypical spitzoid melanoma tissue under a microscope

Atypical spitzoid neoplasm

  • Complete one or two questionnaires about your personal and family medical history
  • Provide written consent for researchers to review your medical records 
  • Collection of a saliva sample and possible blood tests to be used for genetic studies
  • Possible skin biopsy (removal of a small piece of skin tissue) for genetic study and testing
  • In some cases, you may be asked to travel to the Clinical Center in Bethesda, Maryland

Test results

  • When the tests are finished, a doctor will discuss the results with you and the need, if any, for clinical follow-up.

Where to ask questions and begin enrollment

Information for Researchers

Clinical, Laboratory, and Epidemiologic Characterization of Individuals with Atypical Spitzoid Tumors

Study Details

Principal Investigators ID

Background and Purpose

Investigators in DCEG are searching for novel inherited gene variants that contribute to the development of atypical spitzoid tumors in children, adolescents, and young adults. As part of this study, investigators will perform DNA and RNA sequencing of atypical spitzoid tumors to characterize the spectrum of mutations and gene fusions present in these skin growths. Tumor sequencing will be performed in a Clinical Laboratory Improvement Amendments of 1988 (CLIA) laboratory and results will be shared with healthcare providers to assist with diagnosis and treatment.