06 March 2021: Articles
Gastrointestinal Stromal Tumor in Monozygotic Twins Shows Distinct Mutational Status: A Case Report
Unusual clinical course, Challenging differential diagnosis, Rare coexistence of disease or pathology
Marcelo Sobral-Leite A , Jesse Lopes da Silva B , Haynna Kimie Pimenta-Inada B , Andrea Sobral Mendes Boisson B , Priscilla de Almeida Romeiro B , Fernando Mallet Soares Parago B , Marcus Vinicius M. Valadão da Silva B , Andreia Cristina de Melo A*DOI: 10.12659/AJCR.929887
Am J Case Rep 2021; 22:e929887
Table 1. Overview of diagnosis, treatment, and tumor DNA mutation status in the 2 cases.
| Clinical features | Case #1 | Case #2 |
|---|---|---|
| Age at diagnosis | 62 | 62 |
| Sex | Female | Female |
| GIST location | Small intestine | Small intestine |
| Stage | IV | T3N0M0 |
| Pre-surgery | IM 400 mg/day for 3 months | No pre-surgery treatment |
| Surgery | Palliative ileostomy | Complete resection |
| Adjuvant | NA | IM 400 mg/day for 3years |
| Exon 9 | WT | WT |
| Exon 11 | WT | c.1676_1681del [p. (Val559_Val560del)] |
| Exon 13 | WT | WT |
| Exon 17 | SNP rs55789615 (2394C>T) | SNP rs55789615 (2394C>T) |
| Exon 12 | SNP rs1873778 (1701A>G) | SNP rs1873778 (1701A>G) |
| Exon 14 | WT | WT |
| Exon 18 | Intronic duplication SNP rs3830355 | Intronic duplication SNP rs3830355 |
| IM – imatinib mesylate; NA – not applicable. | ||