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Case Reports
. 2022 Aug 20;29(8):5933-5941.
doi: 10.3390/curroncol29080468.

Metastatic SDH-Deficient GIST Diagnosed during Pregnancy: Approach to a Complex Case

Anas Chennouf  1 , Elie Zeidan  1 , Martin Borduas  2 , Maxime Noël-Lamy  3 , John Kremastiotis  4 , Annie Beaudoin  1   5
Affiliations
Case Reports

Metastatic SDH-Deficient GIST Diagnosed during Pregnancy: Approach to a Complex Case

Anas Chennouf et al. Curr Oncol. .

Abstract

Gastrointestinal stromal tumors (GISTs) account for 1% of GI neoplasms in adults, and epidemiological data suggest an even lower occurrence in pregnant women. The majority of GISTs are caused by KIT and PDGFRA mutations. This is not the case in women of childbearing age. Some GISTs do not have a KIT/PDGFRA mutation and are classified as wild-type (WT) GISTs. WT-GIST includes many molecular subtypes including SDH deficiencies. In this paper, we present the first case report of a metastatic SDH-deficient GIST in a 23-year-old pregnant patient and the challenges encountered given her concurrent pregnancy. Our patient underwent a surgical tumor resection of her gastric GIST as well as a lymphadenectomy a week after induction of labor at 37 + 1 weeks. She received imatinib, sunitinib as well as regorafenib afterward. These drugs were discontinued because of disease progression despite treatment or after side effects were reported. Hence, she is currently under treatment with ripretinib. Her last FDG-PET showed a stable disease. This case highlights the complexity of GI malignancy care during pregnancy, and the presentation and management particularities of metastatic WT-GISTs. This case also emphasizes the need for a multidisciplinary approach and better clinical guidelines for offering optimal management to women in this specific context.

Keywords: GIST; SDH deficient; abdominal mass; gastrointestinal stromal tumor; malignancy; pregnancy.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Axial (A) and coronal (B) contrast-enhanced CT view showing an 8.3 cm polylobate submucosal lesion with cystic components (yellow arrows) consistent with a GIST.
Figure 2
Figure 2
Pathological cut of gastric GIST with immunohistochemistry stain for CD117/c-kit.
Figure 3
Figure 3
HE stains showing GIST lymph node metastasis.
Figure 4
Figure 4
Nine-month follow-up FDG-TEP scan after introduction of imatinib, showing disease progression with new liver metastasis.
Figure 5
Figure 5
Timeline of the patient’s diagnosis and treatments.
See this image and copyright information in PMC

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