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

Saturday, December 21, 2013

Sindrome de Peutz-Jeghers en Espanol


 Síndrome de Peutz-Jeghers

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


Peutz-Jeghers Syndrome

Synonym: PJS
Thomas J McGarrity, MD, Christopher I Amos, PhD, Marsha L Frazier, PhD, and Chongjuan Wei, PhD

Initial Posting: February 23, 2001; Last Update: July 25, 2013.

Summary

Disease characteristics. Peutz-Jeghers syndrome (PJS) is an - 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


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!


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

Still here

If there's been much PJS news recently, I haven't found it. And I certainly haven't been writing it!

I'm busy with my own health care.

If you or a loved one has PJS, take good care. And please join the PJS & JPS (juvenile polyposis syndrome) Online Support Group at http://listserv.acor.org/SCRIPTS/WA-ACOR.EXE?A0=PJS

It's free, run by volunteers and there are over 300 members there to help you.

loving, healing wishes to all,
Stephanie

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



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.

Peutz-Jeghers syndrome Highlights - Best Practice - BMJ

bestpractice.bmj.com/best-practice/monograph/1128.html

Updated PJS Newsletter - January 2012

Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome News
January 2012

These resources are especially for those interested in PJS and 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

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.

The two-hour DVD of the panel discussion includes:

Monday, October 24, 2011

Two studies of the mTOR inhibitor everolimus in Peutz-Jeghers syndrome

Two studies of the mTOR inhibitor everolimus in Peutz-Jeghers syndrome
A patient-view report by Stephanie Sugars

My 2009 report on mTOR inhibitors in PJS

Drug directions in PJS – RAD001 (aka everolimus and Afinitor), an mTOR inhibitor
A patient-view report by Stephanie Sugars 
January 17, 2009  

Part one of three: These are the thoughts of a PJS patient, not a medical professional. I'm thinking like a patient advocate and wondering what we might want to consider about using these drugs and participating in clinical trials for them. 

I don't mean to discourage anyone who'd like to participate in a clinical trial, it's a sacrifice that some will have to make to determine whether new drugs are both safe and effective for other patients. 

I do want us to consider possible risks and benefits and not get carried away in the excitement of a new era of chemoprevention in PJS.  

I've been following mTOR, rapamycin and RAD001 (everolimus) in PJS and our gene, LKB1 for many years. I heard about the Salt Lake City trial (http://www.clinicaltrials.gov/ct2/show/NCT00811590) in October 2007 at the Collaborative Group of Americas on Inherited Colorectal Cancer conference.

Sunday, July 3, 2011

Follow-up on children with PJS

If a child has been diagnosed with PJS by some combination of family history, spots and genetic testing, but doesn't have polyps, what screening tests and follow-up surveillance tests are recommended by PJS experts?

There are several different expert opinions on this, but all suggest that annual full gastrointestinal workups (including scopes and imaging) are unnecessary. The  range is from repeat the tests at 2-3 year intervals to wait until age 18 to test again.

Thursday, June 2, 2011

My article in Familial Cancer's Summer 2011 PJS issue

Familial Cancer Journal is publishing a special issue on Peutz-Jeghers syndrome and the editors have graciously included an article by me. I hope those who can afford to will purchase the article - only $34.95 - from the website

For those who don't want to pay for the beautifully formatted version, please read ahead for the lovingly written, but plainly formatted version.