Patient Clinical Profile

  • Patient Age: 50
  • Gender: Female
  • Visit Type: Routine Colonoscopy
  • Visit notes: The patient underwent exploratory laparotomy with appendectomy at age 29 after an episode of abdominal pain. The pathologic specimen revealed a segmental occlusion with adenomatous polyps. The patient had persistent abdominal and pelvic pain, leading to diagnostic laparoscopy and a diagnosis of endometriosis. Secondary to pelvic pain from endometriosis, total abdominal hysterectomy was performed at age 29. The uterine pathologic specimen revealed focal nodular atypical endometrial hyperplasia. At age 31, the patient underwent bilateral salpingo-oophorectomy due to pelvic pain associated with endometriosis.

    Due to her extensive family history of cancer, patient has been undergoing routine colonoscopies from her Gastroenterologist, who suspected Lynch syndrome may be an underlying explanation and recommended genetic testing for confirmation.


Myriad myRisk® Panel Test Result:

Positive
MSH2 (Lynch)

Patient’s Family History

Relative Cancer Type Age of Dx
Sister Salivary Gland 30
Sister Muir Torre sebaceous carcinomas; Colon, Breast (Triple Negative), Endometrial cancers 35, 51, 52, 54, 60
Mother Colon, Gastric 53, 55
Maternal Grandmother Colon, Lung 37, 86
Maternal Aunt Endometrial, Colon, Bladder, Pancreatic 42, 44, 46, 58
Maternal Uncle Colon 50
Nephew Glioblastoma 16
Maternal Cousin Colon 29
Maternal Great Aunt Liver 84
Maternal Great Grandmother Colon 45

MSH2 Cancer Risk Management Table

CANCER TYPE PROCEDURE
Colorectal
  • Colonoscopy every 1 to 2 years beginning at age 20 to 25 years, or 2 to 5 years younger than the earliest diagnosis in family if it is under age 251,2
  • Consider the use of aspirin as a risk reduction agent1,2
  • Colorectal surgical evaluation may be appropriate for some patients1
Endometrial
  • Consider annual pelvic examination, endometrial sampling and transvaginal ultrasound beginning at age 30 to 35 years1,2
  • Consider hysterectomy after completion of childbearing1,2
  • Patient education about endometrial cancer symptoms1
Ovarian
  • Consider bilateral salpingo-oophorectomy at age 40 or after completion of childbearing1,2
  • Consider transvaginal ultrasound and CA-125 measurement beginning at age 30-35 years1,2
Gastric, Small Bowel
  • Treat for Helicobacter pylori infection if present2
  • Consider upper endoscopy every 2 to 5 years, beginning at age 30 to 35 years, particularly for patients with additional risk factors for gastric cancer, such as family history or Asian ancestry. Consider biopsy of the antrum1,2
Urinary Tract
  • Consider urinalysis annually beginning at age 30-35 years1,2
Pancreatic
  • Consider available options for pancreatic cancer screening, including the possibility of endoscopic ultrasonography (EUS) and MRI/magnetic resonance cholangiopancreatography (MRCP). It is recommended that patients who are candidates for pancreatic cancer screening be managed by a multidisciplinary team with experience in the screening for pancreatic cancer, preferably within research protocols3
Central Nervous System
  • Annual physical/neurological examination starting age 25-301

In this particular case…

Before this test, the patient dealt with uncertainty, not knowing exactly what she may be facing in the future, and anxiety at each cancer screening procedure. Now equipped with the knowledge of her true cancer risk, through hereditary cancer testing, her provider has implemented a personalized course of medical management and cancer risk reduction that includes:

  • preventive subtotal colectomy- following multiple years of tubular adenomas and hyperplastic polyps on annual colonoscopies with consideration of her sister’s (same mutation) diagnosis of colon cancer less than one year after an annual colonoscopy
  • annual colonoscopy/endoscopy
  • EUS and MRI/MRCP
  • neurological examination
  • urinalysis
  • clinical skin examinations
  • CA-125 screening

Through preventive measures, this patient has been able to avoid cancer at least six times and continues to be a previvor– an individual who carries a genetic mutation but has not developed cancer. In addition to avoiding cancer for herself, her son, who initially had to endure annual colonoscopies since the age of 21, also underwent testing and found out he was negative for the familial MSH2 mutation. This knowledge enabled him to avoid further unnecessary medical procedures since he’s now at general population risk, with the cancers in the family being explained by the identified MSH2 mutation and diagnosis of Lynch syndrome. He does not have to have another colonoscopy until the age of 50, which is years away. He can also take comfort in knowing that his children are no longer at risk of carrying this mutation.

In fact, since learning of the familial MSH2 mutation and diagnosis of Lynch syndrome, along with the associated medical management and cancer risk reducing options, there have been zero subsequent deaths due to cancer in this patient’s family.


References

  1. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal.v 1.2016. July 13. Available at http://www.nccn.org.
  2. Giardiello FM, et al. Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol. 2014 109:1159-79. PMID: 25070057.
  3. Canto, MI, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 62:339-47. PMID: 23135763.

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