A recent discussion at the Peutz-Jeghers Syndrome Online
Support Group – http://listserv.acor.org/archives/pjs.html
– on life expectancy in people with PJS led me to do a little research
on the topic. Here’s what I found from the medical literature. Fortunately
several “older” members shared their ages – causing me to eat my words. I’m 57
years old.
Dear PJS friends,
Well, I was ready to eat my words about how long people with
PJS can and do live.
Am so grateful that many members shared their ages and that
of their relatives with PJS. It’s good to remember that many do live past age
60 and even age 70 with PJS.
With the current life expectancy of 78 years in the USA,
it’s great to imagine living that long, hopefully in relatively good health.
My problem is – I read too many medical journal articles.
Figuring my memory was at fault, I just reviewed over 30
articles and found them frustratingly incomplete for answering questions about
our life expectancy.
The figure estimating death by age 57 is an old one from
1989 and the risk wasn’t a 100% chance, but a 48% chance. (reference 4, below)
There are two main types of articles on PJS people – case
reports that tell the story of one person or one family and larger compilations
of many patients (can be by institution, nation or international).
While statistics tell us nothing about how life will be for
a single individual, they can give us a general sense of how the group of us
might do. If we can trust the statistics.
Unfortunately, I’m caught between looking at tables of
individuals or families that include ages and figures, graphs and charts that
estimate statistical probabilities of cancer and mortality (survival) by age.
The patients included in the tables are mostly under the age
of 60 years, many under the age of 20 years.
The graphs then use that data to guesstimate cancer and
mortality risk.
The big problem is most of the groups calculating the data
don’t:
A.) follow their patients over a long time;
B.) tell readers what the follow-up period is;
C.) include the ages of the participants (our cancer risk
increases with age);
D.) many have too many young patients and not tell us much
about older patients risk of cancer and chance of survival;
E.) the largest group studied was a pooling of 419 patients,
so statistics are going to be shaky. We’re not going to get data from 10,000 PJS
patients in our lifetimes. We can’t trust statistics.
Here are some excerpts from various articles about our risk
of cancer and life expectancy –
Study of 133 PJS patients from the Netherlands, 2011:
“At the closing date of the study, two patients (1%) had
been lost to follow-up, 42 (32% had died at a median age of 45 (range 3-76
years), and the median age of the 89 patients still alive was 34 years. 49
cancers were diagnosed in 42 of 133 included patients, including seven patients
diagnosed with two primary carcinomas…The median age at cancer diagnosis was 45
years…” (1)
The Dutch group had the most reliable data – gathered over a
long time on patients they kept track of and they included ages! But their patient population was still young. Will be interested to see what happens over the next decade.
Study of 54 patients from Mayo Clinic in the USA, 2010:
“… 21 malignancies were diagnosed and treated in 19 patients
(35%)… Sixteen (30%) patients have died. The major cause of death was
malignancy. The median age of death was premature at 51 years (IQR: 38-57).” (2)
Study of 31 patients from Germany, 2009:
“Seventy-seven percent of PJS patients had a positive family
history for cancer as expected. A total of ten malignant tumours were detected
in six (19%) of 31 PJS patients resulting in a cumulative cancer risk of 65% up
to age 60…There was only one carcinoma at age 28, while all the other cancers
occurred at age 40 or later.” (3)
A good piece of news in this article from Germany – many of
the cancers were detected during routine surveillance – presumably early and
while still treatable/curable.
From St. Mark’s in London, 1989:
“Among 72 patients with the Peutz-Jeghers syndrome malignant
tumours have developed in 16 (22%) of whom al but one have died. There were
nine gastrointestinal and seven non- gastrointestinal tumours. The relative
risks of death from gastrointestinal cancer and all cancers were 13
(95%CI2.7-38.1) and 9 (95%CI4.2-173) respectively. The chance of dying of cancer
by the age of 57 was 48%.” (4)
This is the source of the dying by age 57 years that we’ve
heard about. But it’s a 48% chance, not a 100% chance!
Relative risk is the number of times more likely than a normal person. So our risk of gastrointestinal cancer in this report is 13 times that of a person who doesn't have PJS.
33 patients from the UK, 2003:
“The risk of developing any cancer in carriers by age 65
years was 47% (95% CI: 27–73%) with elevated risks of both gastrointestinal and
breast cancer.” (5)
In this article only 3 of the 33 patients included in the
table were over age 60. So, I think it’s really hard to predict what will
happen as they and the others age!
419 patients, international, 2006:
“Ninety-six cancers were found among individuals with
Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50,
60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively.” (6)
This article included patients from the prior article, so
you can see how the estimates jumped from 47% risk of developing any cancer by
age 65 years to 60% by age 60 years.
All we can really figure from these articles, tables and
graphs is that we have an increased cancer risk over the general population and
that the risk increases with age.
We know from our own experience, that a cancer diagnosis
isn’t an immediate or even delayed death sentence. Many members have survived
one or more cancer diagnoses in addition to the PJS diagnosis.
So, I’m happy to eat my words!
Happy to meet so many PJS people over the age of 60!
Happy that others too are living fully in spite of, or
because of, a PJS diagnosis.
Sending warm, healing regards,
Stephanie
Who’s lived for over 20 years with advanced cancer – you
just never, ever know how it’s going to go!
REFERENCES:
(1) High cancer risk and increased mortality in patients
with Peutz-Jeghers syndrome.
van Lier MG, Westerman AM, Wagner A, Looman CW, Wilson JH,
de Rooij FW, Lemmens VE, Kuipers EJ, Mathus-Vliegen EM, van Leerdam ME. Gut.
2011
Feb;60(2):141-7. doi: 10.1136/gut.2010.223750. PubMed PMID:
21205875.
(2) Peutz-Jeghers syndrome: a study of long-term surgical
morbidity and causes of mortality.
You YN, Wolff BG, Boardman LA, Riegert-Johnson DL, Qin R.
Fam Cancer. 2010 Dec;9(4):609-16. doi:
10.1007/s10689-010-9358-1. PubMed PMID:
20571886.
(3) Truncating
mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical
interventions and cancers.
Salloch H, Reinacher-Schick A, Schulmann K, Pox C, Willert
J, Tannapfel A, Heringlake S, Goecke TO, Aretz S, Stemmler S, Schmiegel W.Int J
Colorectal Dis. 2010 Jan;25(1):97-107. doi:
10.1007/s00384-009-0793-0. Epub 2009 Sep 2. PubMed PMID:
19727776.
(4) Cancer and the Peutz-Jeghers syndrome.
Spigelman AD, Murday V, Phillips RK.
Gut. 1989 Nov;30(11):1588-90. PubMed PMID: 2599445; PubMed
Central PMCID:
PMC1434341.
Free full-text
(5) Further observations on LKB1/STK11 status and
cancer risk in Peutz-Jeghers syndrome.
Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A,
Eccles D, Talbot I, Neale K, Lim AG, O'Donohue J, Donaldson A, Macdonald RC,
Young ID, Robinson MH, Lee PW, Stoodley BJ, Tomlinson I, Alderson D, Holbrook
AG, Vyas S, Swarbrick ET, Lewis AA, Phillips RK, Houlston RS.
Br J Cancer. 2003 Jul 21;89(2):308-13.
PubMed PMID: 12865922; PubMed Central PMCID: PMC2394252.
Free full-text
(6) Frequency and spectrum of cancers in the Peutz-Jeghers
syndrome.
Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA,
Gille JJ, Keller
JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello
FM, Gruber SB,
Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Möslein G,
Royer-Pokora B,
Vogel T, Phillips RK, Spigelman AD, Houlston RS. Clin Cancer
Res. 2006 May
15;12(10):3209-15. PubMed PMID: 16707622.
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