April 2021 — Gastroenterology and Surgical Pathology Case 2

A 35-year-old woman presented with gastric bleeding and was found to have a 3.4 cm mass involving the stomach and a 1.8 cm paracaval nodule. Previously, the patient had a paraganglioma removed from the abdomen.

Figure 1: Gastric mass, 400x magnification
Figure 2: Gastric mass, CD34, 200X magnification
Figure 3: Gastric mass, CD117, 200x magnification
Figure 4: Paracaval nodule, 400x magnification
Figure 5: Gastric mass, SDHB, 200x magnification
Figure 6: Paracaval nodule, SDHB, 200x magnification

For which predisposition syndrome would testing be most important for prognosis?

  • PTEN
  • CDH1
  • MMR (MLH1, PMS2, MSH2, MSH6)
  • SDHB

The correct answer is ...

The correct answer is: SDHB.

  • The gastric tumor is a gastrointestinal stromal tumor (positive for CD34 and CD117) and the abdominal tumor is a paraganglioma. These tumors can occur in a patient with succinate dehydrogenase (SDH) deficiency. In a younger person with synchronous or meta-synchronous GIST and paraganglioma, this suggests the possibility of a predisposition syndrome and can be further studied with SDHB immunohistochemistry. In this case, SDHB IHC was negative in the gastric GIST as well as the paracaval paraganglioma, indicating a possible correlation with SDHB deficiency syndrome (see figures 5 and 6).
  • PTEN is associated with Cowden syndrome, which predisposes to hamartomas in the esophagus and stomach and increased incidence of colorectal adenocarcinoma.
  • MMR (MSH2, MSH6, MLH1, PMS2) Mismatch repair protein deficiency is associated with Lynch syndrome and predisposition to colorectal adenocarcinoma.
  • CDH1 mutations predispose to gastric signet ring cell carcinoma. (Figures 5 and 6)

References

  1. WHO Classification of Tumours Editorial Board. Digestive system tumours [Internet]. Lyon (France): International Agency for Research on Cancer; 2019 [cited 2021 Mar 4]. (WHO classification of tumours series, 5th ed.; vol. 1). Available from: https://tumourclassification.iarc.who.int/.
Square photo of David Nolte

David Nolte, M.D.

Fellow, Surgical Pathology
Mayo Clinic

@DNolte_MD

Rondell P. Graham, M.B.B.S.

Rondell Graham, M.B.B.S.

Consultant, Anatomic Pathology
Mayo Clinic

Associate Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science

@rondell_graham

MCL Education

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