Peutz Jegher’s Syndrome

Jejunum [Ref: Oxford textbook of medicine: Sections 18-33, Volume 3 By David A. Warrell 2005/e p6431

Oxford textbook of medicine writes- “The syndrome stigmata are obvious with multiple pigmented spots on the lips and buccal mucosa, and multiple benign hamartomatous polyps throughout the gastrointestinal tract, most frequently affecting the jejunum.”

Peutz-Jeghers syndrome is an autosomal dominant syndrome characterized by the combination of hamartomatous polyps of the intestinal tract and hyperpigmentation of the buccal mucosa, lips, and digits.

The syndrome is associated with an increased (2%-10%) risk for cancer of the intestinal tract, with cancers reported throughout the intestinal tract, from the stomach to the rectum. There is also an increased risk for extraintestinal malignancies, including cancer of the breast, ovary, cervix, fallopian tubes, thyroid, lung, gallbladder, bile ducts, pancreas, and testicles.

Among the options given in the question hamartomatous polyps in Peutz Jegher’s syndrome has only a small chance of being malignant (39%).

Juvenile Polyps given in this question are not solitary polyps, but part of juvenile polyposis syndrome, which has a risk of about 30 to 60 % to develop into a carcinoma.

In HNPCC, there 80% lifetime risk of developing colorectal carcinoma.

Adenomatous polyps in Familial adenomatous polyposis, if left untreated has a 100% relative risk of turning into malignancy.

Ref: Current Surgical Diagnosis& Treatment, 12th Edition, Page 696, 697, 709, 710; Cancer Epidemiology and Prevention By David Schottenfeld, 3rd Edition Page 568; Principles and Practice of Clinical Medicine in Asia: Treating the Asian Patient  By Joseph Jao Yiu Sung, page 276; Harrison’s Principles of Internal Medicine 18th edition, Chapter 91.

Ans. is ‘a’ i.e., Most common site is small intestine; ‘b’ i.e., Polypectomy on colonoscopy is treatment of choice; ‘c’ i.e., Hamartomatous polyp

Peutz -Jeghers syndrome

o It is an autosomal dominant condition characterized by :‑

1.       Hamartomatous polyps in

Small intestine -4           100%

Colon                   —>         30%

Stomach              —>         25%

2.       Extraintestinal carcinomas of pancreas, breast, ovary, lung and uterus.

3.       Mucocutaneous pigmentation

o Approximately 3% of patients develop intestinal adenocarcinoma.

o The condition is caused by a mutation in the LKB1/STK11 gene which codes for a serine – threonine kinase that is thought to play a role in apoptosis.

Clinical features

o Most common age of involvement is between 20-30 years.

o The major symptoms depend on the intestinal location of the polyps (i.e. small intestine, colon, stomach) :-

(i)         Intestinal obstruction & intussusception (43%)

(ii)       Abdominal pain (23%)

(iii)     Hematochezia (14%)

(iv)      Prolapse of colonic polyps (7%)

o There may be mucocutaneous pigmentation :-

(i)         Cutaneous pigmentation :- Perioral & perinasal region, finger, toes

(ii)    Mucous membrane pigmentation :- Buccal mucosa

o Other manifestations include precocious puberty, rectal mass (rectal polyp), testicular mass, gynecomastia and growth acceleration (due to sertoli cell tumor).

Treatment

o Treatment consists of identification of the syndrome and careful monitoring of the tissues that are at risk for cancer development.

o Intestinal polyps are usually removed (polypectomy) when discovered during colonoscopy.

A i.e. Peutz jegher syndrome

Mucosal involvement is seen in: (requiring oral examination)

1. Lichen planusQ, Leprosy
2. Pemphigus vulgaris (not pemphigoid)Q
3. Peutz Jegher Syndromes
4. Erythema multiformae
5. Syphilis (congenital & secondary)
6. Measles (Koplik Spot)Q
7. Fordyce’s spot & disease

Peutz jegher syndrome consists of:

1. Melanosis (Brown macules) on oral mucosa, perioral region, lips & fingersQ
2. Familial hamartomatous polyposisQ affecting the jejunum which leads to haemorrhage & intussusception.

Answer is A (Peutz Jegher’s Syndrome) :

Peutz Jegher’s Syndrome is a rare autosomal dominant disorder in which perioral and labial pigmented macules, occur in association with jejunal polyps. Presence of malena may reflect polyps in jejunum.

Similar complains in sister indicate the hereditary nature of this disorder. Together these features confirm the diagnosis.

‘Pigmentation’ is not a feature with Gardener’s and FAP, nor with villous adenoma.

Heriditable (Autosomal dominant) Gastrointestinal polvposis syndromes :  Neoplastic polyps:

Multiple Adenomalous polyps (Adenomas) – are a very common risk factor for colorectal malignancy. Infact if the polyposis is not treated surgically, colorectal cancer will develop in almost all patients (100%), before age 40

Clues to diagnosis:

Adenomas in large intestine with no associated lesions                                               Familial Polyposis coil

Adenomas in large intestine associated with osteomas, fibromas or                             Gardner’s Syndrome

Adenomas in large intestine associated with brain                                                     Turcot’s syndrome

Non-Neoplastic Polyps: Peutz Jegher’s syndrome and Juvenile polyposis, are two autosomal dominant, heritable conditions, associated with polyps in G.I.T. These polyps are however harmatomas and do not have malignant potential.

Clues to their diagnosis:

Ans. C i.e. Radiotherapy is the treatment of choict.