Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 


 
 Table of Contents  
CORRESPONDENCE
Year : 2019  |  Volume : 15  |  Issue : 1  |  Page : 252-254

Recurrent intestinal obstruction in a patient of Peutz–Jeghers syndrome


1 Department of General Surgery, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India
2 Department of Obstetrics and Gynaecology, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India

Date of Web Publication13-Mar-2019

Correspondence Address:
Dr. Sundeep Kumar
Flat No. 9, Block- C2, Krishnabaag Apartment, Nagwa, Lanka, Varanasi - 221 005, Uttar Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcrt.JCRT_866_17

Rights and Permissions
 > Abstract 


Peutz–Jeghers syndrome is a rare hamartomatous polyposis syndrome characterized by the presence of intestinal polyps and mucocutaneous melanotic pigmentations. It is associated with various gastrointestinal and extraintestinal malignancies. This case report deals with the clinical presentation, investigations, operative findings, and outcome of a patient harboring this disease. A 45-year-old female presented to us with intermittent colicky abdominal pain for the last 6 months and a single episode of melena 1 month back. She had a previous history of resection of a jejunal growth 22 years back. The histopathology report was suggestive of papillary adenocarcinoma. On examination, hyperpigmented macules were seen on her lips and buccal mucosa. Laparotomy revealed multiple polyps mainly in the proximal small intestine and a focus of ileoileal intussusception. A limited resection was done.

Keywords: Intestinal hamartomatous polyps, mucocutaneous hyperpigmented macules, Peutz–Jeghers syndrome, small intestinal adenocarcinoma


How to cite this article:
Kumar S, Arora P, Goswami P. Recurrent intestinal obstruction in a patient of Peutz–Jeghers syndrome. J Can Res Ther 2019;15:252-4

How to cite this URL:
Kumar S, Arora P, Goswami P. Recurrent intestinal obstruction in a patient of Peutz–Jeghers syndrome. J Can Res Ther [serial online] 2019 [cited 2019 Oct 18];15:252-4. Available from: http://www.cancerjournal.net/text.asp?2019/15/1/252/244480




 > Introduction Top


Hamartomas result from a disorder of differentiation during embryonic development leading to disorganized overgrowth of mature and specialized tissue indigenous to its normal site. Peutz–Jeghers syndrome (PJS) is the second most common hamartomatous polyposis after juvenile polyposis syndrome. This case report aims toward depicting the importance of history taking, record-keeping of previous treatment, meticulous clinical examination in reaching a diagnosis for this entity, and providing appropriate surgical management to these patients in case of complications.


 > Patient and Methods Top


A 45-year-old female presented with intermittent episodes of colicky abdominal pain with associated bilious vomiting for the last 6 months and a single episode of black, tarry stool 1 month before admission. She was operated for a malignant growth of jejunum 22 years back in a tertiary care hospital, the histopathology report suggesting an adenocarcinoma with transmural infiltration. A history of a similar illness was lacking in her family.

On general survey, she had an average built with pallor. Examination of gastrointestinal system revealed hyperpigmented spots over the lips [Figure 1] and buccal mucosa [Figure 2]. On palpation, abdomen was distended and nontender. Per vaginal and digital rectal examination revealed no abnormality.
Figure 1: Hyperpigmented macules over lower lip in the patient

Click here to view
Figure 2: Hyperpigmented macule over the left buccal mucosa in the patient

Click here to view


Blood investigation revealed a hemoglobin level of 8 g/dl. Stool occult blood test was negative for microscopic evidence of bleeding. Abdominal ultrasound and contrast-enhanced computed tomography abdomen suggested intestinal obstruction due to intussusception. After informed consent, laparotomy was done. Palpable polyps of variable sizes were seen in the entire jejunum and ileum, with no polyp in stomach and duodenum. A small polyp was present in the transverse colon. An intussusception caused by a polyp, around 50 cm from the duodenojejunal flexure, was found which was reduced and resected [Figure 2]. Enterotomy, polyp removal, and primary closure were done for two other large ileal polyps [Figure 3] and [Figure 4]. Many small innocuous polyps were left undisturbed.
Figure 3: Intussusception at distal jejunum caused by a polyp

Click here to view
Figure 4: Enterotomy to remove a large polyp of small intestine

Click here to view



 > Results Top


The patient had an uneventful recovery following surgery. Histopathological report suggested the polyps to be hamartomatous in nature. A rare combination of oral mucosal hyperpigmented melanin spots and hamartomatous polyps predominantly in the jejunum, in a patient presenting with intestinal obstruction due to intussusception, with a history of segmental resection for jejunal adenocarcinoma led to the clinical diagnosis of PJS. Upper gastrointestinal endoscopy and mammogram revealed no abnormality. Gynecological reference done for cervical smear study showed no neoplastic change. She was recommended to undergo genetic testing for germline mutation of this syndrome. The patient was symptom free at 3- and 6-month follow-up. She was advised to undergo upper gastrointestinal (GI) endoscopy and colonoscopy biennially. An annual pancreatobiliary and pelvic ultrasonography and yearly mammography were recommended along with an annual gynecological evaluation.


 > Discussion Top


It is a rare autosomal dominant syndrome whose diagnosis can be made in patients harboring hamartomatous intestinal polyp(s) with at least two of the following clinical criteria: labial melanin deposits, a family history of the syndrome, and small bowel polyposis.[1] The incidence of PJS ranges from 1/50,000 to 1/200,000 live births.[2] Germline mutation of the tumor-suppressor serine-threonine kinase gene LKB1/STK11 on chromosome 19 is implicated with this pathology.[3] The pigmented mucocutaneous macules in this syndrome appear in the first few years of life, attain prominence during adolescence, and then may gradually fade away except for the buccal mucosal melanin spots which persist throughout life. These macules are dark brown, 1–5 mm in size, and located on the vermilion border of the lips (94% of patients), the buccal mucosa (66%), hands (74%), and feet (62%).[4] Polyposis appears by the end of the 2nd decade of life occurring most commonly in the jejunum followed by colon and stomach. The polyps usually number between 1 and 20 per se gment of the intestinal tract and vary in size from 0.1 to 5 cm in diameter.[5]

The risks associated with this syndrome include a strong tendency of developing cancer at multiple sites. There is 2%–10% increased risk for GI malignancies, anywhere from stomach to rectum. Increased risk for extraintestinal cancer of the pancreas, gallbladder, common bile duct, breast, and thyroid is seen.[6] There is an additional risk of gynecological malignancy of the ovary (bilateral sex cord tumor with annular tubules) and well-differentiated adenocarcinoma of the cervix known as adenoma malignum.[7] Differential diagnosis of familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer can be made by use of colonoscopy and modified Amsterdam criteria, respectively.


 > Conclusions Top


This case report underlines the importance of a detailed history taking, previous treatment record evaluation, and careful lookout for characteristic mucocutaneous hyperpigmented spots in patient presenting with intermittent intestinal obstruction in clinching the diagnosis of PJS. Histopathological finding of hamartomatous polyps of intestine further substantiates the diagnosis. The treatment is directed at dealing with the complications of obstruction and persistent bleeding in the form of a limited resection. Considering the diffuse involvement of the gut, extensive resections aimed at cure are not fruitful. Since these patients carry risk for development of malignancy at various sites, regular follow-up is done to screen and detect these tumors at an early stage.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgment

The authors acknowledge for the general support by the Departments of General Surgery and Obstetrics and Gynaecology of R.G. Kar Medical College and Hospital, Kolkata, West Bengal, where the work has been done.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
 > References Top

1.
Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987;316:1511-4.  Back to cited text no. 1
    
2.
Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: Its natural course and management. Johns Hopkins Med J 1975;136:71-82.  Back to cited text no. 2
    
3.
Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, et al. Aserine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998;391:184-7.  Back to cited text no. 3
    
4.
Traboulsi EI, Maumenee IH. Periocular pigmentation in the Peutz-Jeghers syndrome. Am J Ophthalmol 1986;102:126-7.  Back to cited text no. 4
    
5.
Giardiello FM. Gastrointestinal polyposis syndromes and hereditary nonpolyposis colorectal cancer. In: Rustgi AK, editor. Gastrointestinal Cancers. Philadelphia: Lippincott-Raven Publishers; 1995. p. 370-1.  Back to cited text no. 5
    
6.
Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998;128:896-9.  Back to cited text no. 6
    
7.
Srivatsa PJ, Keeney GL, Podratz KC. Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz-Jeghers syndrome. Gynecol Oncol 1994;53:256-64.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

  >Abstract>Introduction>Patient and Methods>Results>Discussion>Conclusions>Article Figures
  In this article
>References

 Article Access Statistics
    Viewed840    
    Printed20    
    Emailed0    
    PDF Downloaded35    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]