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GASTROINTESTINAL STROMAL TUMOR IN A PATIENT WITH NEUROFIBROMATOSIS TYPE I: A CASE STUDY

Jason John 1, Neethi Dasu 2, Brian Blair 1, Lucy Joo 1, C Jonathan Foster 1

Affiliations

1 Jefferson Health NJ, Stratford, United States

2 Beth Israel Lahey Health, Cambridge, United States

Summary

AI Generated

A 57-year-old woman with neurofibromatosis type 1 was diagnosed with an incidental gastrointestinal stromal tumor discovered during evaluation for diverticulitis and treated with surgical resection without adjuvant therapy.

CT imaging for sigmoid diverticulitis revealed an incidental mesenteric mass measuring 4.4 x 3.1 x 3.7 cm in the left lower quadrant.
Pathology after small bowel resection showed gastrointestinal stromal tumor with two foci (5.4 cm and 0.6 cm), negative margins, low mitotic index (2/50 HPF), and no clinically relevant KIT mutations on NGS sequencing.
Oncology recommended CT surveillance every 6 months without adjuvant therapy because the tumor developed in the setting of NF1.
The patient deferred routine screening due to loss of insurance and inability to afford out-of-pocket costs of CT imaging.
The authors note that surgical resection is the mainstay of treatment for NF1-associated GIST, while tyrosine kinase inhibitors are typically reserved for sporadic cases or high-risk features.

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This summary was generated by an AI large language model based on the content transcript. It is for informational purposes only and should not be considered a substitute for clinical judgment. Always rely on your professional expertise and the full clinical context when making clinical decisions.

Abstract

Clinical Case Summary

A 57- year- old female with past medical history of NF1 and diverticulitis presented with one day history of left lower quadrant abdominal pain, nausea, and vomiting. CT Abdomen and Pelvis demonstrated sigmoid diverticulitis without abscess, and an incidental mesenteric mass 4.4 x 3.1 x 3.7 cm in the left lower quadrant. She was medically managed with intravenous antibiotics and discharged five days later. She was scheduled for a 1 month follow up with general surgery, who recommended resection of the mass. She underwent a small bowel resection of the mass and was discharged on postoperative day three. Pathology was consistent with gastrointestinal stromal tumor with two foci, 5.4 cm, and 0.6 cm in size with negative margins. The overall mitotic index was low (2/50 HPF) with Ki-67 staining of 5%. Tumor cells were positive for CD117, DOG1, SMA and negative for CD 31, CD 34, MSA, S100 and Desmin. Onkosight NGS KIT sequencing revealed no clinically relevant mutations in KIT exons 2, 9, 10, 11, 13, 14, 15, 17 and 18. Oncology recommended CT surveillance scans every 6 months without adjuvant therapy since the tumor developed in the setting of NF1. Our patient unfortunately deferred routine screening due to loss of insurance and inability to afford the out-of-pocket costs of CT imaging. In summary, our case illustrates the rare occurrence of GIST in a patient with NF1. Since NF1-associated GISTs typically present in female patients in their fourth decade of life, our case highlights the importance of early screening. Surgical resection is the mainstay of treatment for this condition as seen in our patient while tyrosine kinase inhibitors are typically reserved for sporadic cases or those with high-risk features [1,2]. Thus, further research into cost effective diagnostic surveillance and non-surgical treatment modalities for those with NF1 associated GIST is warranted.

References

1. von Mehren M, Joensuu H. Gastrointestinal Stromal Tumors. J Clin Oncol. 2018 Jan 10;36(2):136-143. doi: 10.1200/JCO.2017.74.9705. Epub 2017 Dec 8. PMID: 29220298; PMCID: PMC6553810.
2. Rutkowski P, Skoczylas J, Wisniewski P. Is the Surgical Margin in Gastrointestinal Stromal Tumors Different? Visc Med. 2018 Oct;34(5):347-352. doi: 10.1159/000491649. Epub 2018 Aug 24. PMID: 30498701; PMCID: PMC6257087.

Conference

UEG Week Vienna 2024

Topics

Oesophagus

Submission format

Clinical Case

Session

Clinical Cases (Posters)

Published

2024

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SHP2 REGULATES CAF ACTIVITY AND ADAPTIVE STROMAL REMODELING DURING VERTICAL RAS PATHWAY INHIBITION IN PANCREATIC CANCER

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