What is the relationship between Peutz-Jeghers syndrome (PJS) and cancer?

Updated: Oct 11, 2018
  • Author: Buu Anh T To, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

Answer

Peutz-Jeghers syndrome (PJS) entails a significant overall increased lifetime risk of intestinal and extraintestinal malignancy (see the Table below; see also the Approach Considerations section), as well as an increased risk of malignancy in younger individuals. The cancer risk increases with age: 1-2% risk by age 20 years, over 30% by age 50 years, and more than 80% by age 70 years. [2]  Small bowel adenocarcinoma has been diagnosed in a child as young as 13 years, [48] with patients aged through 30 years harboring a 5% cumulative risk of cancer that rises to 85% by age 70 years. The overall relative risk for cancer is greater in females than in males, and it is greatest for gastrointestinal, pancreatic, and gynecologic-cervical cancers. [2, 49]

The increased risk for malignancies was also documented in another study. A systematic review that included 20 studies and 1 meta-analysis, comprising 1644 patients found 21% (n = 349) of patients developed 384 malignancies. [50] The average age for malignancy was 24 years. The most common malignancy was colorectal cancer, followed by breast and small bowel cancer as well as other less common gastrointestinal malignancies. [50]

Patients with Peutz-Jeghers syndrome appear to have an increased risk for pancreatic-biliary cancer. [51] In a study by Korsse et al that included 144 patients with Peutz-Jeghers syndrome from 61 families, 7 patients (5%) developed pancreatic cancer (median age, 54 y), and 2 patients (3%) each developed distal bile duct cancer or ampullary cancer (median age, 55 y). There was a 26% cumulative risk and 76 relative risk for pancreatic cancer at age 70 years; the cumulative risk for pancreatic-biliary cancer was 32% at age 70 years, with a relative risk of 96 (P< 0.001). [51]

Table. Risk Ratio Compared to the General Population, Lifetime Frequency, Mean Age, and Age Range of Malignancies Related to Peutz-Jeghers Syndrome [5] (Open Table in a new window)

Organ

Risk Ratio

Frequency, %

Mean Age (Range), Years

Esophagus

57

0.5

67

Stomach

213

29

30.1 (10-61)

Small Intestine

520

13

41.7 (21-84)

Colon

84

39

45.8 (27-71)

Pancreas

132

36

40.8 (16-60)

Lung

17

15

 

Testis

4.5

9

8.6 (3-20)

Breast

15.2

54

37 (9-48)

Uterus

16

9

 

Ovary

27

21

28 (4-57)

Cervix

1.5

10

34.3 (23-54)

In addition, other reproductive site cancers have been associated with Peutz-Jeghers syndrome, including adenoma malignum of the cervix, Sertoli cell tumors, and sex cord tumors with annular tubules. [52, 53, 54]

Breast cancer in patients with Peutz-Jeghers syndrome significant increase, 8% at age 40 and 31% at age 60  [54]  and it may also be bilateral. [7]  Owing to the increased risk of pancreatic adenocarcinoma in Peutz-Jeghers syndrome, screening with endoscopic ultrasonography has emerged as a relatively new tool for early diagnosis. [55, 56]

More recent data shows the following percentage lifetime risk for cancers by site in individuals with Peutz-Jeghers syndrome [116] :

  • Stomach: 29%
  • Small intestine: 13%
  • Colon: 39%
  • Pancreas: 11-36%
  • Lung: 15-17%
  • Breast: 45-50%
  • Uterus: 9%
  • Ovary: 18-21%
  • Cervix: 10%

Thyroid papillary malignancy [1] as well as sinonasal adenocarcinoma [57] have also been reported in patients with Peutz-Jeghers.


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