I first posted this to the PJS Online Support Group in May 2001 and updated it in 2014. There are two addenda - first is my correspondence with Dr. Stratakis of the NIH, the second from 2014 is a list of five abstracts about PJS & thyroid cancer. - healing wishes, Stephanie Dear PJS friends; This report is on the PJS/thyroid connection. For our newcomers, I've written several pieces on PJS from a patient's view. Some topics include: sex cord tumors, bowel preparations, a review of the article Very High Risk of Cancer in Familial PJS, (7) , etc. Please remember these pieces are not medical advice, but reviews of the literature that you can take to your doctor. Some of you may want to have your thyroids screened, others with thyroid troubles may be surprised by the PJS connection. This topic was introduced in 2000 by two group members, who both visited Dr. Stratakis at the NIH in Bethesda, Maryland. Dr. Stratakis is an endocrinologist who works primarily on Carney Complex. His study (1) is open to people with PJS. One member wrote her thyroid tumors were found during her study participation. The other member wrote to us on September 4, 2000: "The doctor gave me a couple of his articles. His latest, from 'Frontiers in Bioscience', discusses the overlap between disorders associated with multiple tumors and pigmentation defects. Among the non- GI neoplasms associated with PJ, endocrine tumors including thyroid cancer and ovarian and Sertoli cell tumors are the most frequent. My surgeon at home was unaware of any thyroid association with PJ. When I needed bloodwork for my surgery in May, I asked to get my thyroid level checked. All came back normal. But, Dr. Stratakis told me that it is not sufficient to just get bloodwork. You also need a thyroid ultrasound. He said that there is an especially aggressive form of thyroid cancer associated with PJ." The full article from Frontiers in Bioscience is available online. (2) |
Monday, October 27, 2014
Peutz-Jeghers syndrome and thyroid problems - benign and malignant
Saturday, August 2, 2014
Storytelling event - I speak about PJS and breast cancer
On Thursday, July 31, 2014 I participated in a storytelling event by and for people with cancer diagnoses and our carers.
The event was a collaboration between https://www.smartpatients.com/ and http://storycollider.org/ and included the stories of six folks with cancer.
If you'd like to see and hear my story, it's at https://www.youtube.com/watch?v=tnpA4CbmJxQ
In it I speak about PJS and how it's affected my life and my breast cancer experience.
In it I speak about PJS and how it's affected my life and my breast cancer experience.
Thursday, July 10, 2014
PJS on The Powerful Patient online radio show
Free podcast of 40-minute interview
Stephanie Sugars, PJS advocate, with Joyce Graff and Mike B. Lawing
Archived at:
http://www.blogtalkradio.com/powerful-patient/2014/07/10/stephanie-sugars-and-the-pjs-community
Stephanie Sugars, PJS advocate, with Joyce Graff and Mike B. Lawing
Archived at:
http://www.blogtalkradio.com/powerful-patient/2014/07/10/stephanie-sugars-and-the-pjs-community
Saturday, December 21, 2013
Sindrome de Peutz-Jeghers en Espanol
Informacion - Sindrome de Peutz-Jeghers
Por personas en Europa
Slideshare Plus
Una madre de PJS hijo en Espana crea un blog y un grupo por
personas con
PJS y sus familias. Ella nombre es Laura y ella email es
sindromedepeutzjeghers@gmail.com
El blog Síndrome de Peutz-Jeghers:
El grupo de Síndrome de Peutz-Jeghers:
Un doctor en Uruquay:
Dr. Asadur Jorge Tchekmedyian
http://www.smu.org.uy/dpmc/pracmed/temas/peutz.html
Findings from the peutz-jeghers syndrome registry of uruguay. Tchekmedyian A, Amos CI, Bale SJ, Zhu D, Arold S, Berrueta J, Nabon N, McGarrity T. Gastroenterology, Pasteur Hospital, Ministry of Public Health, Montevideo, Uruguay. PLoS One. 2013 Nov 19;8(11):e79639. doi: 10.1371/journal.pone.0079639. |
Articulos en Espanol:
* [Entero-tomography and Peutz-Jeghers syndrome].
Dardik D, Levy Yeyati E, Ulla M. Medicina (B Aires).
2012;72(4):323. Spanish. PubMed PMID: 22892084.
* Síndrome de Peutz-Jeghers: comunicación de un caso con
cirugías múltiples por poliposis hamartomatosa
Peutz-Jeghers syndrome: a case report with multiple surgical
procedures due to hamartomatous polyposis
Caren Jocelyn Aquino Farrera, Shein Asariel Rodríguez
Inzunza
Edición Octubre-Diciembre 2012 / Volumen 10-Número 4
Mexico
* Triple invaginación intestinal en paciente con síndrome de
Peutz-Jeghers
Santos Gómez, Idoia; Mast Vilaseca, Richard; Madrazo
González, Zoilo; Cañas Lozano, Concepción; Hernández Gañán, Ganan
Publicado en Cir Esp. 2011;89:252-3. - vol.89 núm 04
* Invaginación intestinal en el síndrome de Peutz Jeghers -
Semes
por MJP MORER - 2011
* SÍNDROME DE PEUTZ - JEGHERS, A PROPÓSITO DE UN CASO
2010 Bolivia
* Papel de la
Laparoscopia en el Tratamiento del
síndrome de Peutz Jeghers
Revisión de la Literatura
RESTREPO H., MD., SCC.; VALENCIA M., MD; TORO R, MD; HOYOS
S., MD., SCC;
áLVAREZ O., MD.
29-abr-2009
* Síndrome de Peutz-Jeghers - SciELO Colombia
JO Nieto - 2009 -
* [Peutz-Jeghers syndrome]
Pérez Rodríguez MJ, Anaya Barea FM, Galiano Fernández E, de
Diego Sierra
D, Condado Sánchez-Rojas I.
An Pediatr (Barc). 2008 Apr;68(4):369-72. Spanish.
PMID: 18394383
* [Oral
double-balloon enteroscopy reaching the cecum]
Pérez-Cuadrado E, Esteban Delgado P, Shanabo J.
Rev Esp Enferm Dig. 2007 Jun;99(6):351. Spanish.
PMID: 17883299
* Síndrome de Peutz - Jeghers Seguimiento de una familia
* [The diagnosis of
Peutz-Jeghers syndrome]
González Muñoz JL, Angoso Clavijo M, Esteban Velasco C,
Rodríguez Pérez
A, Muñoz Bellvis L, Gómez Alonso L.
Rev Esp Enferm Dig. 2007 Mar;99(3):167. Spanish.
PMID: 17516831 [PubMed - indexed for MEDLINE]
* Double-balloon enteroscopy: a descriptive study of 50
explorations.
Pérez-Cuadrado E, Más P, Hallal H, Shanabo J, Muñoz E,
Ortega I, López
Martín A, Torrella
E, López Higueras A, Martín A, Carballo F.
Rev Esp Enferm Dig. 2006 Feb;98(2):73-81. English, Spanish.
PMID: 16566639
* [Non-small cell bronchogenic carcinoma and
Peutz-Jeghers syndrome]
Estrada Trigueros G, López-Encuentra A, García Quero C.
Arch Bronconeumol. 2005 May;41(5):296. Spanish.
PMID: 15919014
* Síndrome de Peutz-Jeghers - edigraphic.com
JMA Francis - 2005 Mexico
* Síndrome de Peutz-Jeghers y adenocarcinoma de colon
Peru
2004
* [Peutz-Jegher's syndrome]
Gutiérrez Benjumea A, Rojo García J, Aguilera Llovet MA,
García Arqueza
C, Casanovas Lax J, Aguayo Maldonado J.
An Esp Pediatr. 2001
Aug;55(2):161-4. Spanish.
PMID: 11472670
* Síndrome de Peutz-Jeghers
A Lozano 1996
Friday, August 30, 2013
My Article on Palliative Care - not PJS-specific
I Wish I'd Known Earlier...Palliative Care Is Not a Mandate
Not to Treat
By Stephanie Sugars
Center for Advancing Health
August 13, 2013
How Old Is Old in PJS?
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.
GeneReviews PJS Entry updated July 25, 2013
Summary
Disease characteristics. Peutz-Jeghers syndrome (PJS) is an autosomal-dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition. Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine (in order of prevalence: in the jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. Gastrointestinal polyps can result in chronic bleeding and anemia and also cause recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Individuals with Peutz-Jeghers syndrome are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors (LCST) of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.
Continued at:
Wednesday, May 8, 2013
Newsletter - Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome
OUTDATED!
FOR ARCHIVE ONLY!
May 2013
FOR ARCHIVE ONLY!
May 2013
These
resources are especially for those interested in PJS & JPS - the diagnosed,
their friends, families, and health professionals. Please share this with any
and all. A list of Online Support Groups for people interested in inherited
cancer syndromes is at bottom of this email.
Warmest
healing wishes,
Stephanie
Sugars
pj4steph@aol.com
Jump to Newsletter
Wednesday, March 13, 2013
Management Guidelines from Europe
Peutz–Jeghers
syndrome: a systematic review and recommendations for Management
Available online free full text
save $30!
http://diposit.ub.edu/dspace/bitstream/2445/18638/1/578379.pdf
(note: this link doesn’t always work, so you’ll need to copy and paste the URL
into your browser to reach the article.)
Monday, March 11, 2013
Cancer risk in PJS – report from Italy
Cancer risk in PJS – report from Italy
Things are worse in Italy than elsewhere, especially for
women. The risk of cancer in people with PJS is greatly increased over the risk
for folks in the general population. Relative risk estimates are the number of
times that a diagnosis is more likely to occur in someone with PJS over the
general population.
So, yes, the risk of pancreatic cancer is 139.7 times higher
in Italian folks with PJS. And for women, the rate is 245.4 times higher. While in men,
it’s “only” 88.6 times higher.
Cancer risk increases with age for everyone, but for this group of Italians with PJS the
cumulative risk (the risk of cancer by a certain age) is 20% by age 40; 43% by
age 50; 71% by age 60 and 89% by age 65.
The authors included 119 PJS patients in the study and noted
that 31 were diagnosed with cancers of gastrointestinal tract, female
reproductive tract, pancreas, breast, thyroid (in order of frequency). There
was one case each of liver cancer, skin cancer, brain cancer and testis cancer. The
risk of pancreatic cancer and cervical cancer were especially high relative to
the general population.
The authors discuss the possibility of surveillance for PJS
patients and note that only 6 of 36 cancers were diagnosed during a
PJS-specific surveillance, thus indicating that the management of these rare
patients is still particularly difficult in our county.
Jump to article abstract –
PJS Day in Netherlands - 8 June, 2013
In the Erasmus MC in Rotterdam is a PJS information day
organized on 8 June, 2013. The registration fee for this day will be € 5 per
person and includes a lunch. Information and registration can be done via
email address pjsinformatiedag@gmail.com
Pancreatic cancer risk in PJS - report from Netherlands
Pancreatic cancer risk in
Peutz-Jeghers syndrome patients: a large cohort study
and implications for
surveillance.
This recent report from
the Netherlands follows 144 PJS patients for a combined total of 5640 person
years. Seven patients developed pancreatic cancer and four patients were
diagnosed with biliary duct or ampullary cancer.
From this data, the
authors were able to estimate the risk of pancreatico-biliary cancer as 32% by
age 70. This is 96 times the rate of pancreatic cancer for a person in the
general population.
The authors also note in
Table 1, Baseline characteristics of the Dutch PJS Cohort, that 48 of their 144
patients (33%) had died at the median age of 46 years and the median age of the
90 surviving patients was 37 years old. (note, six patients were lost to
follow-up).
Based on the results of
our current study, we recommend that PJS patients should be offered
surveillance regardless of family history for PC, since all subjects with PC in
our series had a negative family history of PC. Although the median age of PC onset
in our cohort was 54 years, we propose that surveillance starts at the age of
30 years. This suggestion is based on the fact that two patients in our series
developed cancer in the pancreatico-biliary region at a very young age (ages 35
and 36).
jump to article abstract –
Friday, November 9, 2012
Pancreatic cancer screening in PJS
This is important because pancreatic cancer screening guidelines for PJS people vary dramatically by expert, center and country. The experts agree we need screening, but don't agree on what type, age to begin or frequency of screening.
Still, it's an important start.
Monday, June 18, 2012
PJS Meet & Greet in Pennsylvania, USA
|
OUTDATED!
FOR ARCHIVE ONLY!
Fourth PJS Meet and Greet July 28 and 29, 2012 Pennsylvania, USA |
Tuesday, May 15, 2012
My other family - Peutz-Jeghers people
Photo of me as young adult
Check out those freckled lips, I have classic Peutz-Jeghers
syndrome.
xoxoxox
Dear guests,
Thank you for visiting the Peutz-Jeghers News Blog.
If you've come seeking information, you'll find some here.
Unfortunately, due to my advancing breast cancer, I can't
keep this blog updated now.
If you've come seeking support, please don't write to me
one-to-one.
For information and support please do join the Peutz-Jeghers
Syndrome & Juvenile Polyposis syndrome Online Support Group. It's free
and run by volunteers. There are currently over 300 members from around the
world
I wrote the following story about my PJS adventures and how
the online support group has changed my life for the better.
If you want to learn more about PJS or JPS and meet others,
I hope you'll join that group and benefit too.
warmest, healing regards,
Stephanie Sugars
Wednesday, February 22, 2012
Role of PJS gene in breast cancer spread
Last month I got very excited by the following news (two press releases and link to free full text article) about the PJS/LKB1 and breast cancer connection. My excitement multiplied when I realized that the research came from near-to-me UCSF, a place I’ve been treated for metastatic breast cancer for over a decade. I was able to speak with Zena Werb and found that the study has moved to Finland where there are lots of PJS patients. And that they don’t need pathology or cytology donations from anyone local.
Darn! My book club just finished Rebecca Skloot’s Immortal Life of Henrietta Lacks and I was ready to sign up as an informed and willing lab rat. Or at least sign a tissue release form.
Btw, my cancer has progressed dramatically recently and I may need to abandon this semi-neglected blog.
TIA for your healing thoughts and well wishes.
Keep on learning, keep on sharing,
Love,
Stephanie Sugars
Friday, January 13, 2012
For those who want to learn much, much more about PJS
The British Medical Journal has an incredibly detailed Peutz-Jeghers syndrome entry. To access it, you'll need to scroll down the page and sign up for the free 30-day trial.
|
Friday, December 30, 2011
PJS - gastrointestinal cancer prevention from surveillance?
The following abstract from St. Mark's in London shares some intriguing suggestions. Can imaging, scopes, and surgery to find and remove polyps reduce our cancer risk? And, is our cancer risk from the polyps? Or are polyps a symptom of an underlying problem (ie. our gene defect)? For those curious to learn more, I've included links to related articles in my commentary.
Peutz-Jeghers Syndrome Meet and Greet DVD Available for Purchase
Peutz-Jeghers Syndrome Meet and Greet DVD Available for Purchase
$10 individual or family member
$20 professional or institution
Ordering instructions below
The Third Annual Peutz-Jeghers Syndrome (PJS) Meet and Greet was held at The Children’s Hospital in Denver, Colorado in July 2011.
A few of the many topics covered by presenters include risk reduction, genetic counseling, children, screening guidelines, and the action of the PJS gene.
A few of the many topics covered by presenters include risk reduction, genetic counseling, children, screening guidelines, and the action of the PJS gene.
The two-hour DVD of the panel discussion includes:
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