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Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

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SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Angela Schipani^1,2, Margherita Nannini^1,3, Annalisa Astolfi¹

¹Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy.

|March 29, 2023

Summary

Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumors (GIST) are often linked to SDHA mutations. This review highlights the prevalence of germline SDHA mutations in SDH-deficient GIST, emphasizing the need for genetic counseling.

Keywords:

SDH-deficient GIST SDHA germinal mutations gastrointestinal stromal tumors succinate dehydrogenase complex (SDH)

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Published on: March 10, 2023

Area of Science:

Oncology
Genetics
Biochemistry

Background:

Succinate dehydrogenase (SDH) complex deficiency characterizes 20-40% of KIT/PDGFRA-negative GIST.
SDH deficiency arises from either epimutation (SDHC promoter hypermethylation) or mutations in SDH subunits, with SDHA mutations being most common (30%).

Purpose of the Study:

To review existing literature on SDHA-mutated GIST.
To focus on the prevalence of germline mutations in SDH-deficient GIST patients with somatic SDHA mutations.
To underscore the significance of genetic counseling for SDHA variant carriers.

Main Methods:

Literature review of studies on SDH-deficient GIST.
Analysis of mutation data, including germline and somatic SDHA mutations.
Immunohistochemical assessment of SDH protein expression.

Main Results:

SDHA mutations are the most frequent cause of SDH-deficient GIST (30%), leading to loss of SDHA and SDHB protein expression.
Germline SDHA mutations are increasingly recognized in patients with SDH-deficient GIST, often involving compound heterozygosity.
SDHB, SDHC, and SDHD mutations account for 20-30% of GIST cases, predominantly as germline events.

Conclusions:

SDHA mutations, particularly germline variants, play a crucial role in a subset of SDH-deficient GIST.
Understanding the genetic landscape of SDH-deficient GIST is vital for accurate diagnosis and risk assessment.
Genetic counseling is essential for SDHA-variant carriers and their families due to the potential hereditary nature of these mutations.