SDH-deficient gastrointestinal stromal tumors: paradoxical effect of imatinib

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Abstract

Succinate dehydrogenase deficient gastrointestinal stromal tumors (dSDH GIST) is a unique group of GISTs with an energy metabolism defect as the key oncogenic mechanism without mutations in the proto-oncogene receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor a (PDGFRA). SDH-deficiency is a result of mutations in SDHA, SDHB, SDHC, SDHD. There are three variants of dSDH GIST: sporadic dSDH GIST, Carney triad or Carney-Stratakis syndrome. dSDH GISTs are characterized by young age, female prevalence, gastric location, multiple tumors, lymph node metastases, indolent behavior and poorly response to imatinib. Despite the literature data, we report the response to imatinib in patient with dSDH GIST. 21 year old female patient presented with incomplete Carney triad (multiply gastric GIST with liver and peritoneal metastases, left lung chondroma). The patient received imatinib with clinical response in a month and radiological response in three months-cystic transformation of primary gastric tumor and liver metastases. The duration of response was 8 months.

About the authors

Daria A. Filonenko

Blokhin National Medical Research Center of Oncology

Author for correspondence.
Email: shubina_d@mail.ru
ORCID iD: 0000-0002-7224-3111

Cand. Sci. (Med.)

Russian Federation, Moscow

Andrey A. Meshcheryakov

Blokhin National Medical Research Center of Oncology

Email: a_meshcheryakov@mail.ru
ORCID iD: 0000-0002-6009-653X

D. Sci. (Med.)

Russian Federation, Moscow

Petr P. Arkhiri

Blokhin National Medical Research Center of Oncology

Email: arhiri@mail.ru

Cand. Sci. (Med.)

Russian Federation, Moscow

Maxim P. Nikulin

Blokhin National Medical Research Center of Oncology

Email: maximpetrovich@mail.ru
ORCID iD: 0000-0002-9608-4696

Cand. Sci. (Med.)

Russian Federation, Moscow

Evgeniia S. Kolobanova

Blokhin National Medical Research Center of Oncology

Email: maximpetrovich@mail.ru

radiologist

Russian Federation, Moscow

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2. Fig. 1. Molecular genetic abnormalities in GIST.

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3. Fig. 2. Computed tomography (CT) data before the treatment: a – the tumor of the stomach (white arrow), a – liver metastases (red arrows); b – chondroma of the left lung (blue arrow).

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4. Fig. 3. Dynamic CT scanning against the background of applying imatinib: a, c – before the treatment, a – liver metastases, c – the tumor of the stomach (February 2019), b – after 2 months of therapy (April 2019) – cystic transformation of the liver metastases, d – after 2 months of therapy, cystic transformation of the tumor of the stomach.

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