Friday, March 11, 2016

Reproductive tract screening for females and males with PJS

This will be relatively short and sweet after my long posts on pancreatic cancer and breast cancer screening in people with Peutz-Jeghers syndrome (PJS).

Both males and females with PJS are at increased risk of cancer in a wide range of organs. Additionally, we're at risk of both benign and malignant tumors of the reproductive tract.

A type of benign tumor called "sex cord tumors" often affect young children, so that young girls may develop signs of puberty as early as 2 years old. And young boys may develop precocious puberty, gynecomastia (breasts), feminizing features and early growth.

In the past, these were surgically treated by removing ovaries, breasts and testicles. Now they're usually treated through hormonal manipulation.

But the problems change with age and females are at increased risk for both benign and malignant ovarian tumors and a rare cervical cancer. Males seem to be at increased risk of prostate and testicular cancer - though the numbers are too low to bear this out.

The benign tumors can lead to hormonal imbalance and I heard from a PJS researcher that some women with PJS have been diagnosed because of menstrual problems, not polyp problems. Additionally, fertility can be difficult for both women and men.

The rare cervical cancer originates deep inside the cervix, not along its outer walls, and can't be detected by PAP smears. It can present as a fluid discharge and sometimes pain or cramping. Some experts suggest pelvic ultrasound exams of the cervix and ovaries, but not all.

Note:  Those with PJS (male and female) and reproductive tract abnormalities should have their tumors and pathology reports reviewed by Dr. Robert Young at MGH in Boston. He's a pathologist interested in PJS and our reproductive tract tumors.

He's truly seen it all and is an expert at sorting out the rare and the common...may even contribute to treatment decision conversations:

Here are a variety of screening guidelines:


St. Mark's in London
::: Cervical smear tests as per the national screening programme (PAP smears age 25-49 every 3 years. Ages 50- 64, every 5 years).


The European experts:
Question: Should surveillance for genital tract malignancies be performed in PJS?
The increase in ovarian tumour risk is mainly not for epithelial ovarian cancer but for SCTAT, which can occur in very young children (2 and 4 years of age reported in the study by Lim et al) although the main risk appears to be in the fourth and fifth decades of life. Giardiello et al reported a 21% lifetime risk of ovarian tumours, a risk of cervical cancer of 9% by 64 years (mean age at diagnosis 34 years) and 10% of uterine cancer. The risks observed by Hearle and colleagues are lower. They observed nine gynaecological cancers (two uterine, two ovarian and five cervical), with a risk of 1% at age 30 years, rising to 18% at age 60 years.

Conclusion: There is no evidence to support routine screening for genital tract malignancies in PJS. However, expert opinion advocates regular screening consisting of 2-3 yearly cervical smears using liquid- based cytology (LBC) from age 25 years, testicular examination and testicular ultrasound in patients where an abnormality is detected at examination. Routine surveillance for endometrial and ovarian cancers is not recommended. (Evidence level: IV, Grade of recommendation: C)


Guidelines from Dutch experts:

Pelvic exam, cervical smear, transvaginal ultrasonography and CA-125 – annually starting age 25-30.


From eMedicine in the USA
Genitourinary in women - Annual pelvic examination, pelvic ultrasound, and cervical smears; some reviews recommend serum CA 125, endometrial biopsy annually from age 20 years onwards


Testicular cancer surveillance is recommended on the basis of expert opinion only. In a literature review all cancers detected were Sertoli cell tumours and occurred at an average age of 9 years. Annual testicular examination is recommended with ultrasound scanning reserved for patients where an abnormality is found or precocious puberty develops.


From eMedicine in the USA:

Genitourinary in men - Annual testicular examination; ultrasound if symptomatic from birth



Clearly, there is a lack of consensus internationally. I hope that the experts will continue to collect and analyze data (there are too few of us to achieve statistical significance) and to craft screening guidelines based on the best available science and medical wisdom.

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