Saturday, July 4, 2015

Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome News - July 2015

Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome News
Updated July 2015


Tuesday, May 19, 2015

Does the PJS affect the kidneys?



Just the sort of odd question I like. And one I've lived with it for years since hearing of a 30 y.o. man with PJS and kidney mass (probably a cyst, though I never learned the final pathology report).


Wednesday, April 15, 2015

The PJS gene and multiple sclerosis

The PJS gene and multiple sclerosis

Please don’t worry about getting multiple sclerosis (MS) because you have PJS!

Please read on if you're interested in the research linking the PJS gene (STK11) to MS.

Incidence of Thyroid Abnormalities in Peutz-Jeghers Syndrome


Dear PJS friends,

Many of us have reported thyroid abnormalities, including thyroid cancer, yet we’ve been offered no recommended thyroid screening guidelines. My earlier report is here http://peutz-jeghersnews.blogspot.com/2014/10/peutz-jeghers-syndrome-and-thyroid.html

Dr. Stratakis and other researchers at the USA NIH – http://clinicalstudies.info.nih.gov/detail/A_95-CH-0059.html – have included PJS patients in their larger clinical study of those with familial lentiginosis syndromes.

The following report is about their 19 PJS patients (3 females, 16 males) who were evaluated for thyroid abnormalities by ultrasound. 14 or 73.7% had abnormalities. “hypoechoic regions (7), nodules (5), cysts (4), regions of inhomogenous tissue (1), hyperechoic regions (1), and calcifications (1).”

Sunday, March 8, 2015

Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome News March 2015

OUTDATED!
FOR ARCHIVE ONLY!

Change! - Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group

The Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group has moved to:

Please join us there by clicking on the link and following instructions to join. If you aren’t ready to join, please bookmark the website for future use.

The new system should be easier to use, have more useful features and better tech support and insure a long-term future for our group.

The following 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

Thursday, January 8, 2015

TRANSLATE



I recently found and activated TRANSLATE for this blog. I hope it will help those who use languages other than English.

Please write to me at pj4steph@aol.com with any questions or responses.

very good healing wishes,
Stephanie Sugars

Monday, December 1, 2014

Cervical cancer in PJS



There is a rare cervical cancer associated with Peutz-Jeghers syndrome, adenoma malignum of the uterine cervix or minimal deviation adenocarcinoma of the uterine cervix.

Unlike most cervical cancers, it starts inside the cervix instead of on the outer lining.

It's hard to diagnose because of its location. PAP smears won't find it and a different type of biopsy is needed.

Women who've had AM/MDA report mucous or watery discharge, bleeding between periods, heavy bleeding, pain, hyperestrogenism and pain.

A list of article abstracts follows.

Please feel free to print and take to your doctor.

I am not a medical professional and am not diagnosing, treating or prescribing.

My best medical advice is to get the best medical advice!

Monday, October 27, 2014

Peutz-Jeghers syndrome and thyroid problems - benign and malignant


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, September 8, 2014

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.

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


OUTDATED!
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