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.

Breast cancer screening in PJS

I recently shared very diverse pancreatic cancer screening guidelines for people with Peutz-Jeghers syndrome (PJS) at this blog.

Now, breast cancer screening gets a spotlight. Though the guidelines don't vary as much region-by-region, there is a startling difference between those of St. Mark's in London and other medical experts. And, again, screening guidelines for Americans are much more aggressive, beginning at a younger age, using more technology and done at more frequent intervals.

Note: All breast cancer screening guidelines are for women with PJS, though men with PJS have been diagnosed with breast cancer and many have had swollen breast tissue (gynecomastia) as boys and/or men.

Pancreatic cancer screening in PJS

Dear PJS people, 

Tell me your pancreatic cancer screening routine (or lack of) and I’ll tell you where you live…and maybe even guess your correct age.

This sounds humorous, but it should be a very serious topic for all of us. Pancreatic cancer risk in people with PJS is astronomical – our risk is possibly over 100 times that of the general population.

While pancreatic cancer is rare in the general population and generally affects older people, in PJS it is fairly common and often affects younger folks and even those who don’t have complicating risk factors like smoking.

Different research groups study different populations of PJS people to arrive at the high-risk estimate – the geographical and historical differences are startling.

More startling to me, a person living with PJS who’s read the medical literature for decades, is how all over the map the cancer screening guidelines for pancreatic cancer are.

PJS Update October 2015

The PJS & JPS (juvenile polyposis syndrome) Online Support Group is thriving at https://www.smartpatients.com/communities/peutz-jeghers-syndrome

 Members from around the world gather for conversations on topics as diverse as bearing and raising affected children; removing at-risk organs and disfiguring spots; differing screening guidelines and living with these rare genetic syndromes. Please join us there. There’s no cost, it’s free of advertising and you can share as much or little personal information as you wish.

A new initiative – CurinGenetics:

The Mission of CurinGenetics is to help people affected by PJS and LKB1 gene mutations secure effective treatment and preventative measures for the elimination of polyp formation and reversing of LKB1 gene mutations. The ultimate goal is to have a world without Peutz Jeghers Syndrome (PJS) and LKB1 gene mutations, therefore lessening cancer risks for the benefit of millions of people affected.

http://www.curingenetics.org/main.html

My personal update:

If you’ve found this blog, you’ve found me, Stephanie Sugars. I’ve been living with PJS for a lifetime and with breast cancer for 25 years. For the past 15 years, I’ve been an activist for people with PJS and our carers (personal and professional). I feel such loving joy to have served our community. And, I’m turning toward my next adventure…death. If you wish to read my personal blog, you can use my name to search for it on the Internet.

Wishing all readers the best in health, well being and longevity.

2015 Boston and Houston PJS gatherings

In Houston, Texas USA on Saturday, August 22, 2015

If interested, please contact Casey at:

caseykevin21707@yahoo.com

Near Boston, MA on Saturday September 26, 2015

If interested, please contact Renee Andrews at:

rma2@comcast.net

If you are interested in the New England Meet and Greet, but the date is not  convenient, please let Renee know and she'll start a list for a second event in the spring or fall of 2016.

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

Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome News

Updated July 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).

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).”

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

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

https://www.smartpatients.com/communities/peutz-jeghers-syndrome

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.

Warmest healing wishes,

Stephanie Sugars

pj4steph@aol.com

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

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!

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)

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.

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

Sindrome de Peutz-Jeghers en Espanol

 Síndrome de Peutz-Jeghers

Informacion - Sindrome de Peutz-Jeghers

http://es.wikipedia.org/wiki/S%C3%ADndrome_de_Peutz-Jeghers

http://www.hon.ch/HONselect/RareDiseases/PT/C04.700.705.html

http://www.nlm.nih.gov/medlineplus/spanish/ency/article/000244.htm

Por personas en Europa

http://www.orpha.net/consor/cgi-bin/index.php?lng=ES

Slideshare Plus

http://www.slideshare.net/hilacha/sndrome-de-peutz-jeghers

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:

http://sindromedepeutzjeghers.blogspot.com/

El grupo de Síndrome de Peutz-Jeghers:

http://groups.google.es/group/sindromedepeutzjeghers

Un doctor en Uruquay:

Dr. Asadur Jorge Tchekmedyian

asadur@chasque.net

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. http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0079639

Articulos en Espanol:

http://www.ncbi.nlm.nih.gov/sites/entrez

* [Entero-tomography and Peutz-Jeghers syndrome].

Dardik D, Levy Yeyati E, Ulla M. Medicina (B Aires). 2012;72(4):323. Spanish. PubMed PMID: 22892084.

http://www.medicinabuenosaires.com/PMID/22892084.pdf

http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802012000400009

* 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

http://www.dcmq.com.mx/edicion-octubre-diciembre-2012-volumen-10-número-4/99-sindrome-de-peutz-jeghers-comunicacion-de-un-caso-con-cirugias-multiples-por-poliposis-hamartomatosa

* 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

http://www.elsevier.es/es/revistas/cirugia-española-36/triple-invaginacion-intestinal-paciente-sindrome-peutz-jeghers-90002319-cartas-cientificas-2011

* Invaginación intestinal en el síndrome de Peutz Jeghers - Semes

por MJP MORER - ‎2011

http://www.semes.org/revista/vol23_6/14.pdf

* SÍNDROME DE PEUTZ - JEGHERS, A PROPÓSITO DE UN CASO

2010 Bolivia

http://www.scielo.org.bo/scielo.php?pid=S1012-29662010000200014&script=sci_arttext

*  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

http://www.encolombia.com/medicina/cirugia/cirugia15400re-papel.htm

* Síndrome de Peutz-Jeghers - SciELO Colombia

JO Nieto - ‎2009 -

http://www.scielo.org.co/pdf/rcg/v24n2/v24n2a13.pdf

* [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

http://encolombia.com/medicina/cirugia/cirugia22_3_2007/Sindrome_de_Peutz.htm

*  [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]

http://scielo.isciii.es/scielo.php?pid=S1130-01082007000300009&script=sci_arttext

* 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

http://www.medigraphic.com/pdfs/h-gral/hg-2005/hg052h.pdf

* Síndrome de Peutz-Jeghers y adenocarcinoma de colon

Peru

2004

http://www.scielo.org.pe/scielo.php?pid=S1022-51292004000400011&script=sci_arttext

* [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

http://zl.elsevier.es/es/revista/anales-pediatria-37/sindrome-peutz-jeghers-13017038-notas-clinicas-2001

* Síndrome de Peutz-Jeghers

A Lozano 1996

http://sisbib.unmsm.edu.pe/bvrevistas/gastro/vol_16n1/sindrome_peutz_j.htm