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STK11 gene

Associated Syndrome Name: Peutz-Jeghers syndrome (PJS)

STK11 Summary Cancer Risk Table

Cancer	Genetic Cancer Risk
Breast	High Risk
Colorectal	High Risk
Endometrial	High Risk
Gastric	High Risk
Lung	High Risk
Other	High Risk
Ovarian	High Risk
Pancreatic	High Risk

STK11 gene Overview

Peutz-Jeghers syndrome (PJS) 1, 2, 3, 4, 5, 6, 7

Individuals with mutations in the STK11 gene have a condition called Peutz-Jeghers syndrome (PJS).
Women with PJS have a risk for breast cancer that is significantly increased over the 12.5% lifetime risk for women in the general population of the United States. Individuals with PJS have high risks for a variety of other cancers, including colorectal, endometrial, gastric, pancreatic, small bowel, cervical and lung cancers. These cancers are often diagnosed at relatively young ages.
The cervical cancer associated with PJS, adenoma malignum, which is also known as minimal deviation adenocarcinoma (MDA), may be difficult to diagnose.
Women with PJS have an increased risk for ovarian neoplasms, including adenocarcinomas. However, sex cord tumors are the most common ovarian tumor found in these patients.
Males with PJS have an increased risk for testicular tumors, particularly large cell calcifying Sertoli cell tumors (LCCSCT). These tumors have a low risk for malignancy, but if left untreated may lead to feminizing changes, advanced skeletal age and short stature.
Patients with PJS are likely to develop hamartomatous gastrointestinal polyps with a distinctive Peutz-Jeghers histology. The most common location of these polyps is the small bowel, but they may also be found in the stomach, colon and nasal passages. Polyps may require treatment due to bleeding with subsequent anemia, recurrent obstruction and/or intussusception.
Patients with PJS are likely to develop pigmented spots around the mouth, eyes, nostrils, anus and on the fingers during childhood. These spots are usually present by age 5 and often fade during puberty and adulthood.
Although there are high risks for cancer and other medical problems in patients with PJS, these risks can be reduced with appropriate medical management. Guidelines from the National Comprehensive Cancer Network (NCCN), American Association for Cancer Research (AACR), and US Multi-Society Task Force (USMSTF) are listed below. Due to the complexity of the condition it is recommended that patients with STK11 mutations and a diagnosis of PJS be managed by a multidisciplinary team with experience in the prevention and treatment of the complications associated with this condition.

STK11 gene Cancer Risk Table

Cancer Type	Age Range	Cancer Risk	Risk for General Population
Colorectal	To age 701, 3, 8	39%	1.8%
Pancreatic	To age 701, 3, 8	11%-36%	0.6%
Female Breast	To age 701, 3, 8	32%-54%	7.5%
Gastric	To age 701, 3, 8	29%	0.3%
Small Bowel	To age 701, 3, 8	13%	0.1%
Ovarian	To age 701, 8	18%-21%	0.6%
Endometrial	To age 701, 3, 8	9%	1.9%
Cervical	To age 701, 3, 8	10%	0.5%
Testicular	To age 703, 8	Elevated risk	0.4%
Lung	To age 701, 3, 8	7%-17%	2.0%

STK11 Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type	Procedure	Age to Begin	Frequency (Unless otherwise indicated by findings)
Colorectal	Colonoscopy1, 6, 7	Baseline at age 8 to 10 years, or earlier if symptomatic, with follow-up as needed	Every 2 to 3 years after age 18
Pancreatic	Magnetic resonance cholangiopancreatography (MRCP) with contrast or endoscopic ultrasound (EUS).1, 6, 9, 11	30 to 35 years, or 10 years younger than the earliest pancreatic cancer diagnosis in the family, whichever comes first	Annually
Female Breast	Breast awareness - Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-examination (BSE) may facilitate breast awareness.12	18 years	NA
	Clinical breast examination1	30 years	Every 6 months
	Mammography and breast MRI with contrast1, 9	30 years	Annually
	Consider risk-reducing mastectomy9	Individualized	NA
Gastric	Upper endoscopy1, 6, 7, 10	Baseline at age 8 to 10 years, or earlier if symptomatic, with follow-up as needed	Every 2 to 3 years after age 18
Small Bowel	Small bowel visualization with CT, MRI enterography or video capsule endoscopy1, 6, 7	Baseline at 8 to 10 years, or earlier if symptomatic, with follow-up as needed, but no later than age 18	Every 2 to 3 years after age 18
Ovarian	Physical exam, monitor for precocious puberty7	Age 8	Annually
	Pelvic examination with consideration of pelvic ultrasound1	18 to 20 years	Annually
Endometrial	Pelvic examination with endometrial biopsy if abnormal bleeding1	18 to 20 years	Annually
Cervical	Pelvic examination and pap smear1	18 to 20 years	Annually
	Consider total hysterectomy (including uterus and cervix).1	After completion of childbearing	NA
Testicular	Physical and testicular examination and observation for feminizing changes.1, 7	Age 10	Annually
Lung	Provide education about symptoms and smoking cessation.1	As needed	As needed

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the STK11 gene.

This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.

Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance of carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention.

Since STK11 mutations carry a risk for complications in children and some screenings are recommended to begin by age 8, consideration should be given to the possibility of mutation testing in childhood.

There are reports of cases where individuals with a mutation in STK11 have not inherited the mutation from a parent. In these cases the mutation has developed spontaneously in that individual (a de novo mutation). Once this occurs, the children of that individual are each at 50% risk of inheriting the mutation.2

References

Gupta S, et al. NCCN Clinical Practice Guidelines in Oncology^® Genetic/Familial High-Risk Assessment: Colorectal. V 1.2023. May 30. Available at https://www.nccn.org.

McGarrity TJ, et al. Peutz-Jeghers Syndrome. 2021 Sep 2. In: Adam MP, et al., editors. GeneReviews^® [Internet]. PMID: 20301443.

van Lier MG, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010 105:1258-64. PMID: 20051941.

Beggs AD, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 59:975-86. PMID: 20581245.

Banno K, et al. Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review). Oncol Lett. 2013 6:1184-1188. PMID: 24179492.

Boland CR, et al. Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022 162(7):2063-2085. PMID: 35487791.

Achatz MI, et al. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clin Cancer Res. 2017 23:e107-e114. PMID: 28674119.

SEER*Explorer: An interactive website for SEER cancer statistics [Internet]. Surveillance Research Program, National Cancer Institute. [Cited 2023 Mar 24]. Available from https://seer.cancer.gov/explorer/.

Daly M et al. NCCN Clinical Practice Guidelines in Oncology^®: Genetic/Familial High-Risk Assessment: Breast, Ovarian and Pancreatic. V 3.2023. Feb 13. Available at https://www.nccn.org.

Ajani JA, et al. NCCN Clinical Practice Guidelines in Oncology^®: Gastric Cancer. V 1.2023. Mar 10. Available at https://www.nccn.org.

Goggins M, et al. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut. 2020 69:7-17. PMID: 31672839.

Bevers TB, et al. NCCN Clinical Practice Guidelines in Oncology^®: Breast Cancer Screening and Diagnosis. V 1.2022. Jun 2. Available at https://www.nccn.org.

Last Updated on 31-Jan-2024

Gene Results