Peutz-Jeghers Syndomre

Peutz-Jeghers Syndomre

Abstract

The following essay outlines different research that has been done on the syndrome known as Peutz’Jeghers Syndrome throughout the years since its first recognition by Dr. Peutz in 1921. Inconsistencies and disagreements in said research throughout the years is noted, mainly pertaining to the risk of cancer in the disease and in more recent years rhe causeof the elevated risk of cancer. The symptoms and treatments of the disease are also discussed.

Peutz-Jeghers Syndrome
In 1921 a Dutch doctor named Peutz published a report on a family that exhibited a very rare combination of two very rare symptoms. These two symptoms were a peculiar pigmentation in the patient’s face and mouth and the presence of polyps in the intestinal tract. Dr. Peutz’sreport was centered on a 15 year old child, referred to as W, who was admitted into the hospital after complaining of pain, nausea, diarrhea and vomiting. W showed an abnormal discoloration in his mouth and was found to have numerous polyps in his intestinal tract. Out of the boy’s six siblings, four shared the same type of pigmentation in the face and two had suffered of bloody stools and bowelobstruction as a result of the same type of intestinal polyps. In addition, two of the boy’s paternal aunts had died from an obstruction in the intestinal tract and had also shown a discoloration in the skin. Although other cases of intestinal polyps and skin lesions had been published, Peutz was the first to stress the correlation of these two symptoms and differentiate them from similar symptomsexhibited in other diseases. He also concluded that the polyps had a risk of becoming malignant and that the disease was congenital (Peutz, 1921)
In 1949, Dr. Jeghers and his collegues Drs. McKusic and Katz published a report on an additional 10 cases of this largely unexplored syndrome. This study was much more extensive than Peutz’s study, covering a range in ages and nationalities and recordingdetailed accounts of the patients and their symptoms.
After this last report was published, awareness of this syndrome rose in the medical community and many more case studies came forth. One of these studies was published in 1954 by Bruwer, Bargen and Kierland, where the term Peutz-Jeghers Syndrome (PJS) was coined (p. 168). The article described the syndrome as “[comprising] unusualpigmentation of the skin and mucous membrane and generalized intestinal polyposis” and pointed out its hereditary nature. It also described the polyps as benign adenomas, or harmless growths, and not the possibly malignant tumors previously described by Peutz (p.170).
Scientists continued to disagree on the precancerous nature of the intestinal polyps in PJS for the next few decades. Bartholomew, Dhalinand Waugh (1957) wrote a study which concluded that there was not enough evidence to support a malignant tendency in the polyps (p. 680). In1962, Bartholomew, Moore, Dhalin and Waugh published yet another article in which they drew the same conclusions (p.10) A study by Foster concluded the same in 1960 (p.35) and one by Dormandy and Edwards in 1956 ruled out the existence of malignant polypscompletely (p. 462). Finally, in 1981 Linos, Dozoi, Dahlin and Bartholomew published an article which highlighted yet again the lack of evidence supporting precancerous polyps. On the other hand, a number of articles were also published stressing the elevated risk of cancer in PJS patients. These include Utsunomiya, Gocho, Miyanaga, Hamaguchi and Kashimure’s 1974 report (p. 82),Cochet, Carrel, Desbaillets and Widgren’s 1979 report, Giardello et al.’s 1987 report and Foley, McGarrity and Abt’s 1988 report.
In 1998, Jenne et al. published an article revealing the exact gene which causes PJS; STK11. According to the U.S. National Library of Medicine’s (NLM) website, STK11 is a gene that contains an enzyme which controls the growth and division of cells, acting as a “tumor suppressor”. The lack...