Monday, October 27, 2014

Peutz-Jeghers syndrome and thyroid problems - benign and malignant

I posted this to the PJS Online Support Group in May 2001. The update/addendum that follows is from 2014 and 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 last year by two group members, Kim and Kristy, 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. Kristy wrote her thyroid tumors were found during her
study participation. Kim 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 in RI 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)


The news of potential thyroid cancer & screening for people with PJS was
particularly startling since none of the screening guidelines from other
doctors include the thyroid. (3) I read Dr. Stratakis' article which included
the following quote, "Among the nongastrointestinal neoplasms associated with
PJS, endocrine tumors including thyroid cancer and ovarian and Sertoli cell
tumors are the most frequent." He referenced three articles (4-6), but when I
read the articles, I found only one mention of thyroid cancer or tumors. I
wrote to Dr. Stratakis requesting more information, but he didn't respond.


Dr. Giardiello in his article, Very High Risk of Cancer In Familial PJS, (7)
showed no increased risk of thyroid cancer in PJS and doesn't even include it
in his tables. I have to wonder what Dr. Stratakis knows that we don't know.
If he sees an increased risk for thyroid cancer, it might be as a result of
his studies or one-to-one communications with other doctors. Now that I have
a large collection of PJS articles, I combed them for reports of thyroid
tumors, malignant & benign, in people with PJS. You will see from my table,
that there are reports of thyroid tumors in PJS folks.


The most common type of thyroid cancer in PJS folks and the general
population is papillary carcinoma. A search at Cancer Net revealed that
thyroid papillary adenocarcinoma is a differentiated cancer that is highly
treatable and curable. (14) So Dr. Stratakis' comment on an aggressive
thyroid cancer associated with PJS isn't substantiated from my readings of
the literature.


Though I did find cases of PJS folks with thyroid problems, but I have no
idea if these findings are significant. Since thyroid problems are fairly
common in the general population, there may not be a connection to PJS.
Hopefully we can get response from medical folks on this list. I will also
forward this to Dr. Stratakis & Dr. Giardiello, asking for their opinions.


If anyone on the list has thyroid problems that may or may not be connected
to PJS, it will be interesting to hear your stories.


I wish my findings were clearer, but maybe a response will come from more
knowledgeable doctors about the PJS/thyroid connection. (note: See letters
from Dr. Stratakis in separate email).


Warmest regards to all,
Stephanie Sugars
pj4steph@aol.com
Peutz-Jeghers syndrome
Mailing list manager & contact


P.S. If you'd like to respond to this e-mail, please don't use your reply
option within your e-mail program. Your e-mail will exceed the size limit.
Just address it to PJS@listserv.acor.org




TABLE:


Author, publication date, reference patient gender & age     diagnosis


Spigelman, 1989 , (6)                    f30                      thyroid
cancer


Burdick & Prior, 1981, (8)               f61                      thyroid
colloid nodule & Hashimoto's thyroiditis


Yamamoto M, 1992, (9)                f29                      Thyroid
papillary
adenocarcinoma


Reed MW, 1990, (10)                                          papillary
carcinoma of the thyroid.


Boardman LA, 1998 (11)               33                       Thryoid cancer


Srivatsa, PJ, 1994    (12)                f91                      Grade 1
metastatic papillary cystic adenocarcinoma of thyroid with squamous
metaplasia
2 months after first operation (patient was 91 years old and in good health
at time of article)


Srivatsa, PJ, 1994    (12)                f21                  Graves'
disease,
subtotal thyroidectomy


Srivatsa, PJ, 1994    (12)                f40                  Adenomatous
Goiter


Srivatsa, PJ, 1994    (12)                f32                  Colloid
adenoma
of thyroid with small area of papillary carcinoma


Dormandy, TL, 1957 (13)              f60                  nodular goiter


Dormandy, TL, 1957 (13)              m 52                 nodular goiter




References:


(1) Definition of the Genotype and Clinical Phenotype of Primary Pigmented
Nodular Adrenocortical Disease and its Associated Conditions (Carney Complex)
Study # 95-CH-0059. The study includes a complete physical examination with
genetic testing. Contact Meg Keil at 301-496-4686.


http://clinicalstudies.info.nih.gov/detail/A_95-CH-0059.html


(2) From Genetics of Carney Complex and Related Familial Lentiginoses and
Other Multiple Tumor Syndromes


By Contsantine A. Stratakis


http://www.bioscience.org/2000/v5/d/stratak/fulltext.htm


(3) Please search our archives for screening guidelines.


(4) Giardiello, F. M.; Welsh, S. B.; Hamilton, S. R.; Offerhaus, G. J. A.;
Gittelsohn, A. M.; Booker, S. V.; Krush, A. J.; Yardley, J. H.; Luk, G. D. :
Increased risk of cancer in the Peutz-Jeghers syndrome. New Eng. J. Med. 316:
1511-1514, 1987.
PubMed ID : 3587280


(5) Hizawa, K.Iida, M., Matsumoto, T., Kohrogi, N., H. Kinoshita & T. Yao:
Cancer in Peutz-Jeghers Syndrome. Cancer November 1, 1993, Volume 72, No. 9.


(6)   Spigelman, A. D.; Murday, V.; Phillips, R. K. S. : Cancer and the
Peutz-Jeghers syndrome. Gut 30: 1588-1590, 1989.
PubMed ID : 2599445


(7) Giardiello, Francis, et al.: Very High Risk of Cancer in Familial
Peutz-Jeghers Syndrome. Gastroenterology 2000;119:1447-1453.


8)   Burdick, D.; Prior, J. T. : Peutz-Jeghers syndrome: a clinicopathologic
study of a large family with a 27-year follow-up. Cancer 50: 2139-2146, 1982.
PubMed ID : 7127254


(9) Yamamoto M, Hoshino H, Onizuka T, Ichikawa M, Kawakubo A, Hayakawa S.:
Thyroid papillary adenocarcinoma in a woman with Peutz-Jeghers syndrome.
Intern Med 1992 Sep;31(9):1117-9
PMID: 1421720


(10) Reed MW, Harris SC, Quayle AR, Talbot CH.: The association between
thyroid neoplasia and intestinal polyps. Ann R Coll Surg Engl 1990
Nov;72(6):357-9
Department of Surgery, Royal Hallamshire Hospital, Sheffield.
PMID: 2241052


(11) Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart
LJ, Ahlquist DA, Podratz KC, Pittelkow M, Hartmann LC: Increased risk for
cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med. 1998 Jun
1;128(11):896-9.
PMID: 9634427


(12) Srivatsa, PJ et al.: Disseminated Cervical Adenoma Malignum and
Bilateral Ovarian Sex Cord Tumors with Annular Tubules Associated with
Peutz-Jeghers syndrome. Gynecological Oncology 53, 256-264 (1994).


(13) Dormandy, Thomas L.: Gastrointestinal Polyposis with Mucocutaneous
Pigmentation (Peutz-Jeghers syndrome). New England Journal of Medicine, 1957
June 13; 1141-1146.


(14)   Cancernet for Thyroid Cancer,
http://cancernet.nci.nih.gov/pdqsrch.shtml

******

Addendum
These are case reports of five people with PJS who had cancer in their thyroid. Their ages ranged from 16 months to 58 years. Case #5 didn't have thyroid cancer, but stomach cancer that travelled (metastasized) to his thyroid.

Remember, only odd and interesting case reports are published in medical journals...so it's difficult to know whether these are common or unusual manifestations of PJS.

healing hugs,
Stephanie

1. Eur J Gynaecol Oncol. 2011;32(4):452-4.

Endometrial carcinoma and ovarian sex cord tumor with annular tubules in a
patient with history of Peutz-Jeghers syndrome and multiple malignancies.

Kondi-Pafiti A(1), Bakalianou K, Iavazzo C, Dastamani C, Hasiakos D, Liapis A.

Author information: 
(1)Pathology Department, University of Athens, Aretaieion Hospital, Athens, Greece.

Background: Peutz-Jeghers syndrome is a rare syndrome which is inherited in a
dominant manner. It is characterized by hamartomatous polyps of the
gastrointestinal tract, hyperpigmented macules of the oral mucosa and an
increased risk of developing neoplasms in the gastrointestinal tract, pancreas,
breast and genital system. Women with Peutz-Jeughers syndrome often develop an
ovarian sex cord tumor and cervical adenocarcinoma of minimal deviation adenoma
malignum type. 

A case of a 58-year-old patient with Peutz-Jeghers syndrome and
history of multiple malignancies (thyroid, breast and colon cancer) who presented
with metrorrhagia is reported. 

The dilatation and curettage revealed endometrial 
adenocarcinoma. The patient underwent total abdominal hysterectomy with bilateral
oophorectomy. The histologic examination showed an endometrioid endometrial
adenocarcinoma that developed in atypical endometrial hyperplasia. The histologic
examination of the right ovary revealed a sex cord tumor with annular tubules,
measuring 3 cm. Sex cord tumors with annular tubules in patients with
Peutz-Jeghers syndrome are usually small, bilateral tumors of the ovaries which
have common characteristics with granulosa cell tumor and Sertoli cell tumor.
Hyperestrogenism is a rather common finding with development of
estrogen-dependent lesions.

PMID: 21941977  [PubMed - indexed for MEDLINE]


2. Thyroid. 2011 Nov;21(11):1273-7. doi: 10.1089/thy.2011.0063. Epub 2011 Aug 30.

Papillary thyroid carcinoma in Peutz-Jeghers syndrome.

Triggiani V(1), Guastamacchia E, Renzulli G, Giagulli VA, Tafaro E, Licchelli B, 
Resta F, Sabbà C, Bagnulo R, Lastella P, Stella A, Resta N.

Author information: 
(1)Endocrinology and Metabolic Diseases, Aldo Moro University of Bari, Bari, Italy. 
v.triggiani@endo.uniba.it

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare dominantly inherited disease
characterized by the association of gastrointestinal hamartomatous polyposis,
mucocutaneous hyperpigmentation, and increased risk of cancer at different target
organs. Its occurrence with differentiated thyroid cancer, particularly papillary
thyroid carcinoma (PTC), even if rare, has been described.

SUMMARY: We here present a case of PTC observed in a PJS patient and a review of 
the literature aiming at discussing the utility of thyroid surveillance in the
management of these patients. A 22-year-old woman presenting with hyperpigmented 
lesions of the lips and hamartomatous polyps in the stomach, duodenum, jejunum,
and ileum, leading to the suspicion of PJS, was submitted to genetic analysis.
Mutation scanning of the Liver Kinase B1 (LKB1) gene identified the presence of
the truncating mutation E265X, thus confirming the clinical diagnosis. 

Beside the endoscopic, radiologic, and echographic evaluations required by the standard
surveillance guidelines, the patient had a neck ultrasound (US), which showed a
5×4×6 mm hypoechoic nodule in the right thyroid lobe. The nodule contained
microcalcifications and a perinodular vascular pattern. The cytological
preparations derived from US-guided fine-needle aspiration biopsy of the nodule
demonstrated the presence of PTC. The patient underwent a video-assisted total
thyroidectomy and the histological examination revealed a follicular variant of
papillary microcarcinoma. 

Radioactive iodine therapy was not performed because of
the small size of the lesion. The patient was started on levothyroxine therapy to
keep the serum thyrotropin levels suppressed. Both the sequencing and the
multiplex ligation-dependent probe amplification analysis could not identify any 
LKB1 mutation in the tumor specimen, and the methylation-specific polymerase
chain reaction assay excluded hypermethylation of the LKB1 promoter as the
mechanism of inactivation for the remaining normal allele in the tumor.

CONCLUSIONS: Although other mechanisms of LKB1 silencing may be responsible for
its inactivation in the thyroid cancer, we cannot rule out that the occurrence of
thyroid carcinoma could be a coincidental finding in this patient. However, the
case here presented suggests that US of the thyroid could possibly become an
integral part of the evaluation and the follow-up program adopted for PJS
patients.

PMID: 21877933  [PubMed - indexed for MEDLINE]


3. J Pediatr Surg. 2011 Mar;46(3):570-3. doi: 10.1016/j.jpedsurg.2011.01.005.

The association of adrenocortical carcinoma and thyroid cancer in a child with
Peutz-Jeghers syndrome.

Yalçin S(1), Kirli E, Ciftci AO, Karnak I, Resta N, Bagnulo R, Akçören Z, Orhan
D, Senocak ME.

Author information: 
(1 )Department of Pediatric Surgery, Hacettepe University Faculty of Medicine,
Ankara, Turkey. suleyal@hacettepe.edu.tr

Peutz-Jeghers syndrome (PJS) is a rare, dominantly inherited disorder
characterized by gastrointestinal hamartomatous polyps, mucocutaneous
hyperpigmentation, and an increased risk of cancer. 

We present a 16-month-old child diagnosed with PJS, who had distinguishing features compared with the
previously reported cases with respect to her clinical presentation, associated
malignancies, and genetic analysis. To our knowledge, this is the first report of
adrenocortical carcinoma in association with PJS, as well as the first instance
of associated thyroid cancer in a child with PJS. 

We briefly review the relevant  literature and highlight the recent progress achieved in the investigation of the
syndrome.

Copyright © 2011 Elsevier Inc. All rights reserved.

PMID: 21376213  [PubMed - indexed for MEDLINE]


4. Exp Clin Endocrinol Diabetes. 2009 May;117(5):234-9. doi: 10.1055/s-0028-1102920.
Epub 2009 Feb 20.

Differentiated thyroid carcinoma (DTC) in a young woman with Peutz-Jeghers
syndrome: are these two conditions associated?

Zirilli L(1), Benatti P, Romano S, Roncucci L, Rossi G, Diazzi C, Carani C, Ponz 
De Leon M, Rochira V.

Author information: 
(1)Integrated Department of Medicine, Endocrinology and Metabolism, and Geriatrics, 
University of Modena and Reggio Emilia, Ospedale S. Agostino-Estense di
Baggiovara, Via Giardini 1355, Baggiovara, Modena, Italy.

AIMS: Peutz-Jeghers Syndrome (PJS) is a rare dominantly inherited disease
characterized by hamartomatous small bowel polyposis, mucocutaneous
hyperpigmentation, and increased risk of cancer. Differentiated thyroid cancers
(DTCs) present mainly as sporadic, but they may have also a familial component.

We present a case of PJS in a caucasian 25 years-old woman, who developed a DTC.

METHODS: The patient had a palpable nodule in the right side of the thyroid
region and an endocrinological evaluation, including hormonal assays, neck
ultrasound (US) and fine needle aspiration (FNAB) of the nodule was performed.

RESULTS: US confirmed a single nodular lesion in the right thyroid lobe (14 mm). 
Cytological analysis at FNAB revealed a pattern compatible with papillary thyroid
carcinoma. The histological analysis after total thyroidectomy confirmed the
diagnosis of a Hurtle cell variant of papillary thyroid carcinoma, with
follicular architecture.

CONCLUSION: Even though rare, the association between PJS and DTC can be
possible. In clinical practice it must be borne in mind that the wide spectrum of
possible cancer diseases occurring in PJS could also include DTC, that the latter
can occur earlier in life in PJS population and with a more aggressive
histological pattern. Furthermore, in patients with PJS, US of the thyroid should
be performed whenever thyroid disease is suspected at physical examination or
based on patient's medical history. Due to lack of established data allowing for 
a real esteem of the association between PJS and DTC, US of the thyroid, should
not be recommended as a routine screening for all subjects with PJS.

PMID: 19235129  [PubMed - indexed for MEDLINE]


5. BMJ Case Rep. 2009;2009. pii: bcr12.2008.1392. doi: 10.1136/bcr.12.2008.1392.
Epub 2009 Apr 3.

Thyroid swelling in a 32-year-old male.

Pandey M(1), Kumar V, Shukla M, Kumar M.

Author information: 
(1)Institute of Medical Sciences, Surgical Oncology, Banaras Hindu University,
Varanasi, UP, 221005, India.

Patients with intrathyroidal metastasis may present with previous history of
malignancy or they may present with a secondary neoplasm prompting us to search
for the primary site.

 A 32-year-old male presented with a 4-month history of
thyroid swelling and abdomen pain. Fine-needle aspiration cytology from the
thyroid swelling revealed deposits from the mucinous adenocarcinoma. The further 
diagnostic and metastatic work-up identified a diffuse carcinoma of the stomach
as the primary site with liver as secondary and retroperitoneal lymph nodes
having mucinous deposits with associated Peutz-Jeghers polyposis. 

This is the first report in the English literature of intrathyroidal metastasis from
carcinoma of the stomach with Peutz-Jeghers polyposis presenting primarily as a
thyroid swelling. Preoperative diagnosis, proper evaluation and high degree of
suspicion may avoid unnecessary thyroidectomy and effective palliation can be
achieved with chemotherapy in view of disseminated disease.

PMCID: PMC3028274
PMID: 21686341  [PubMed]

Monday, September 8, 2014

Peutz-Jeghers Syndrome News – September 2014


Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome News
September 2014

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

*****
INFORMATION AND NEWS

* Peutz-Jeghers News blog by Stephanie Sugars 

* 2014 and 2015 – Peutz-Jeghers Syndrome Meet & Greets are being planned for both Boston and Houston. Please join the PJS and JPS Online Support Group to keep informed. If email volume is a problem you can go “nomail” and periodically check the archives for updates and invites.

* 2014 Storytelling event – I tell of PJS and its affect on my life with breast cancer and relationship with death




* 2014 Free online 40-minute radio show about PJS

• 2014 Juvenile Polyposis syndrome entry at GeneReviews


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!


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.

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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