Our Summary

This research paper is about a 67-year-old woman with Neurofibromatosis type 1 (NF1), a genetic disorder that causes unusual tumors to grow on nerve tissue. She came in with stomach pain and was found to have two different tumors in her small intestine. One of these was a type of tumor called a neurofibroma, and the other was a low-grade tumor called a GIST.

Further tests showed she also had tumors in her pancreas and adrenal gland, and she had higher than normal levels of certain hormones in her blood and urine, which suggested she had a type of adrenal gland tumor called a pheochromocytoma. She had surgery to remove the adrenal gland tumor, and later, she had a second surgery to remove the pancreatic tumor.

After the surgeries, they found her pancreatic tumor was a rare type called a gastrinoma, which releases a hormone called gastrin. They also found out she had a type of tumor called a Hürthle cell neoplasm in her thyroid gland. Genetic testing showed she had a mutation in her NF1 gene, which likely contributed to her developing these rare tumors.

The paper concludes by saying this is only the fifth reported case of a gastrinoma associated with NF1, and the first case where the gastrinoma came from the pancreas. They also note that if a person with NF1 is found to have one type of tumor, it’s important to check for other types of tumors as well. The woman continues to be monitored and, so far, her tumors have not come back.

FAQs

  1. What is Neurofibromatosis type 1 (NF1) and what kind of tumors are associated with it?
  2. What surgical procedures were performed on the patient, and what were the findings?
  3. What is the significance of neuroendocrine tumors found in NF1 patients?

Doctor’s Tip

A helpful tip a doctor might tell a patient about tumor resection is to follow up with regular surveillance and monitoring, as there may be a risk of developing additional tumors in patients with conditions such as neurofibromatosis type 1. It is important to stay vigilant and proactive in managing your health to catch any potential issues early on.

Suitable For

Patients with neurofibromatosis type 1 (NF1) who present with tumors of neural or endocrine origin, such as neurofibromas, gastrointestinal stromal tumors (GISTs), pheochromocytomas, gastrinomas, and thyroid neoplasms, are typically recommended tumor resection. These patients may require multiple surgeries to remove various tumors and are often closely monitored for the development of additional malignancies. Close surveillance is important in these patients to detect and manage tumors at an early stage.

Timeline

  • Patient with NF1 presents with abdominal pain and pneumoperitoneum
  • Undergoes small-bowel resections for perforated jejunal lesion and ileal lesion, pathology reveals neurofibroma and low-grade GIST
  • Staging reveals 3.7 cm pancreatic head mass and 1.7 cm left adrenal mass, elevated serum gastrin and urinary catecholamines consistent with pheochromocytoma
  • Left posterior retroperitoneoscopic adrenalectomy performed
  • Gallium-68-DOTATOC PET/CT shows uptake in pancreatic head and left thyroid nodule
  • Open pancreaticoduodenectomy reveals pheochromocytoma and low-grade gastrinoma involving peripancreatic lymph nodes
  • Fine-needle aspiration biopsy of thyroid nodule shows Hürthle cell neoplasm
  • Genetic testing identifies NF1 mutation
  • Patient continues surveillance with no evidence of recurrent disease

What to Ask Your Doctor

  1. What type of tumor resection will be necessary for my specific case?
  2. What are the risks and potential complications associated with tumor resection surgery?
  3. How will tumor resection surgery impact my overall health and quality of life?
  4. What is the expected recovery time after tumor resection surgery?
  5. Will I require additional treatment or surveillance after tumor resection surgery?
  6. Are there any alternative treatment options to consider for my tumor?
  7. Are there any specific genetic tests or screenings that should be done before or after tumor resection surgery?
  8. What is the long-term prognosis for my specific type of tumor and how will it be monitored?
  9. Are there any support groups or resources available for individuals with neurofibromatosis type 1 who are undergoing tumor resection surgery?
  10. Are there any specific lifestyle changes or precautions I should take after tumor resection surgery to prevent recurrence or complications?

Reference

Authors: Arif AA, Kim PTW, Melck A, Churg A, Schwartz Z, Stuart HC. Journal: Am J Case Rep. 2021 Jan 16;22:e927761. doi: 10.12659/AJCR.927761. PMID: 33452231