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CASE REPORT
Year : 2021  |  Volume : 20  |  Issue : 4  |  Page : 307-309  

Solitary peutz–jeghers type hamartoma in a Nigerian: A case report of a rare finding and review of literature


1 ReMay Consultancy and Medical Services, Ikeja, Lagos State, Nigeria
2 Department of Medicine, College of Medicine, University of Lagos, Lagos, Nigeria
3 Department of Anatomic and Molecular Pathology, Lagos University Teaching Hospital, Lagos, Nigeria

Date of Submission07-May-2020
Date of Acceptance07-Aug-2020
Date of Web Publication3-Dec-2021

Correspondence Address:
Aderemi O Oluyemi
ReMay Consultancy and Medical Services, Ikeja, Lagos State
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aam.aam_37_20

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   Abstract 


Background: We report a case of solitary Peutz–Jeghers (P-J) type hamartomatous polyp in the sigmoid colon of an asymptomatic Nigerian without other diagnostic criteria for full-blown P-J syndrome. Case Report: During colonoscopy for a 58-year-old man, a solitary, pedunculated polyp was seen in the sigmoid colon. Histopathological examination of the endoscopically resected mass revealed the classical features of P-J type hamartoma. A search for lentigines on the skin or mucous buccal membranes was negative. There is no family history of such findings. Conclusion: The case here presented is truly rare as a review of the scientific literature appears, to the best of our knowledge, not to contain such a unique presentation from our locality nor indeed from among Black Africans. We conducted a review of the literature and wished to highlight the evolving concept that solitary P-J polyps be considered a distinct disease entity when it appears in the absence of other features of the syndrome complex.

   Abstract in French 

Résumé
Contexte: Nous rapportons un cas de polype hamartomateux solitaire de type Peutz – Jeghers (P J) dans le côlon sigmoïde d'un Nigérian asymptomatique sans autres critères diagnostiques du syndrome P J complet. Rapport de cas: Au cours de la coloscopie d'un homme de 58 ans, un polype solitaire pédonculé a été observé dans le côlon sigmoïde. L'examen histopathologique de la masse réséquée par voie endoscopique a révélé les caractéristiques classiques de l'hamartome de type PJ. Une recherche de lentigines sur la peau ou les muqueuses buccales a été négative. Il n'y a pas d'antécédents familiaux de telles découvertes. Conclusion: Le cas présenté ici est vraiment rare car une revue de la littérature scientifique semble, à notre connaissance, ne pas contenir une présentation aussi unique de notre localité ni même des Noirs africains. Nous avons effectué une revue de la littérature et avons souhaité mettre en évidence le concept évolutif selon lequel les polypes P J solitaires doivent être considérés comme une entité pathologique distincte lorsqu'ils apparaissent en l'absence d'autres caractéristiques du complexe du syndrome.
Mots clés: Coloscopie, pigmentation mucocutanée, Nigéria, syndrome de Peutz – Jeghers, hamartome de Peutz – Jeghers solitaire

Keywords: Colonoscopy, mucocutaneous pigmentation, Nigeria, Peutz–Jeghers syndrome, solitary Peutz–Jeghers hamartoma


How to cite this article:
Oluyemi AO, Odeghe EA, Awolola NA. Solitary peutz–jeghers type hamartoma in a Nigerian: A case report of a rare finding and review of literature. Ann Afr Med 2021;20:307-9

How to cite this URL:
Oluyemi AO, Odeghe EA, Awolola NA. Solitary peutz–jeghers type hamartoma in a Nigerian: A case report of a rare finding and review of literature. Ann Afr Med [serial online] 2021 [cited 2022 Jan 24];20:307-9. Available from: https://www.annalsafrmed.org/text.asp?2021/20/4/307/331656




   Introduction Top


Peutz–Jeghers syndrome (PJS) is an autosomal dominant, hereditary disease characterized by hamartomatous polyps of the gastrointestinal (GI) tract and by mucocutaneous melanin deposits.[1] Its cause, in most cases (>90%), appears to be a germline mutation of the serine/threonine kinase 11 (STK11/LKB1) tumor suppressor gene, located on chromosome 19p13.[2],[3],[4] It is associated with an increased risk of developing cancers, both GI and non-GI, with many patients developing cancer at a young age.[5],[8],[7]

The World Health Organization diagnostic criteria for PJS include any of the following:[8]

  1. Three or more histologically confirmed Peutz–Jeghers (P-J) polyps, or
  2. Any number of P-J polyps with a family history of P-JS, or
  3. Characteristic, prominent, mucocutaneous pigmentation with a family history of PJS, or
  4. Any number of P-J polyps and characteristic, prominent, mucocutaneous pigmentation.


Recently, there have been a number of case reports of solitary GI (gastric, small intestinal, and colorectal) hamartomatous polyps that are histologically similar to those of the P-JS type but without the typical mucocutaneous lesions or a family history of PJS.[9],[10] These are called solitary P-J polyps. Some of these have been associated with complications that are seen with PJS such as intussusception and recurrent small bowel and biliary obstruction.[10],[11],[12]

The scientific literature does contain some reports of PJS in Sub-Saharan Black Africans, but these are sparse indeed – thus giving credence to the as-yet unproven supposition that the disease entity is a rarity over here.[13],[14],[15] The documented cases of solitary P-J type polyps without evidence of mucocutaneous involvement are rare. This case report documents one such case. We also looked at some other aspects of the genetic basis and diagnosis of this evolving clinical entity.


   Clinical Case Top


A 58-year-old asymptomatic man presented for routine screening colonoscopy. A solitary, pedunculated polyp (Paris Classification Ip) was seen in the sigmoid colon [Figure 1]. The lesion was excised through polypectomy, and the sample was sent for histopathologic diagnosis. A subsequent check for any pigmentation in the mucocutaneous membranes of the man and those of his two siblings that were on hand was negative. The histopathology results described the typical findings of P-J hamartomatous polyps by the extensive smooth muscle proliferation, with an elongated, arborized pattern throughout the lesion [Figure 2]. A repeat of the colonoscopy was carried out 2 years later, but this was normal, as was that of the said siblings.
Figure 1: The endoscopic view of the polyp in the sigmoid colon

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Figure 2: Histopathologic picture of the colonic PeutzJeghers type hamartoma polyp. A medium-power photomicrograph that clearly depicts the characteristic central core of branching smooth muscle (transparent arrow), H and E, ×100

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   Discussion Top


The endoscopic appearance of these lesions is in no way specific to this condition; thus, the histopathology of the polyps is of paramount diagnostic importance.[16] The pathological feature of solitary P-J type polyp is that the smooth muscle bundles from the muscularis mucosae extend from a core to the entire polyp and form a typical branch-like structure covered by almost normal mucosa.[8],[9] The diagnosis of P-J polyps is usually based on the finding of this characteristic pattern. However, Tse et al. argue that the presence of a lobulated growth pattern be added to the presence of the earlier arborizing smooth muscle pattern before the diagnosis is reached.[17]

A case series done in eight patients with solitary P-J polyps found that these patients were older at the time of diagnosis than those with PJS, and on follow-up for a median of 11.5 years, none of them developed another P-J polyp or cancer.[18] This led the authors to conclude that patients with solitary P-J polyps do not have an increased risk of cancer development. However, other studies have reported the presence of both GI and extra-GI cancers in some patients with solitary P-J polyps, including adenomatous transformation and malignant transformation of some of the polyps.[19],[20],[21]

Genetic analysis of mutations of the STK11/LKB1 gene in many of these patients with solitary P-J polyp did not show any genomic abnormality.[22],[23] However, this is to be paralleled with the fact that such mutations are not demonstrable in some 10% of polyps from PJS-affected individuals as well.[24]

The differentiating findings of a lack of mucocutaneous features, absence of a family history, absence of an increased risk of developing cancers, and absence of the genetic mutation, have led some authors to question if they may be different disease entities.

Even though many of these patients with solitary P-J polyps do not have genetic mutations in the STK11 gene, a recent study found the presence of epigenetic abnormalities in the STK11/LB gene.[25] This may mean that PJS and solitary P-J polyps are the results of different mutation pathways, and therefore may be distinct diseases with similar histopathological expression.


   Conclusion Top


This case of solitary P-J type hamartoma in the absence of other components to describe it as PJS is unique in our locality as it is, to the best of our knowledge, the first from Nigeria. It also presents a short review of various documented genetic, clinical, and pathological aspects of this newly emerging distinct disease. The article highlights the current thinking that solitary colonic P-J polyps may be a distinct entity from PJS.

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Jeghers H, Mckusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. New England J Med 1949;241:1031-36.  Back to cited text no. 1
    
2.
Nakagawa H, Koyama K, Tanaka T, Miyoshi Y, Ando H, Baba S, et al. Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3. Hum Genet 1998;102:203-6.  Back to cited text no. 2
    
3.
Hemminki A, Tomlinson I, Markie D, Järvinen H, Sistonen P, Björkqvist AM, et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 1997;15:87-90.  Back to cited text no. 3
    
4.
Westerman AM, Entius MM, de Baar E, Boor PP, Koole R, van Velthuysen ML, et al. Peutz-Jeghers syndrome: 78-year follow-up of the original family. Lancet 1999;353:1211-5.  Back to cited text no. 4
    
5.
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. 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.
Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006;12:3209-15.  Back to cited text no. 7
    
8.
Bosman FT, Carneiro F, Hruban RH, Theise ND, editors. WHO Classification of Tumours of the Digestive System. 4th ed.. Lyon, France: International Cancer Research on Cancer; 2010.  Back to cited text no. 8
    
9.
Nakayama H, Fujii M, Kimura A, Kajihara H. A solitary Peutz-Jeghers-type hamartomatous polyp of the rectum: Report of a case and review of the literature. Jpn J Clin Oncol 1996;26:273-6.  Back to cited text no. 9
    
10.
Choi CI, Kim DH, Jeon TY, Kim DH, Shin NR, Park DY. Solitary Peutz-Jeghers-type appendiceal hamartomatous polyp growing into the terminal ileum. World J Gastroenterol 2014;20:4822-6.  Back to cited text no. 10
    
11.
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. 11
    
12.
Jaremko JL, Rawat B. Colo-colonic intussusception caused by a solitary Peutz-Jeghers polyp. Br J Radiol 2005;78:1047-9.  Back to cited text no. 12
    
13.
Jena GP. Peutz-Jeghers syndrome in a Zimbabwean. Cent Afr J Med 1982;28:77-8.  Back to cited text no. 13
    
14.
Anyanwu SN. Sporadic Peutz-Jeghers syndrome in a Nigerian. Cent Afr J Med 1999;45:182-4.  Back to cited text no. 14
    
15.
Igun GO, Ameh YY, Awani KU. Peutz-Jeghers syndrome: Case report. East Afr Med J 1999;76:284-6.  Back to cited text no. 15
    
16.
Kopacova M, Tacheci I, Rejchrt S, Bures J. Peutz-Jeghers syndrome: Diagnostic and therapeutic approach. World J Gastroenterol 2009;15:5397-408.  Back to cited text no. 16
    
17.
Tse JY, Wu S, Shinagare SA, Lauwers GY, Yilmaz O, Wu CL, et al. Peutz-Jeghers syndrome: A critical look at colonic Peutz-Jeghers polyps. Modern Pathol 2013;6:1235-40.  Back to cited text no. 17
    
18.
Oncel M, Remzi FH, Church JM, Goldblum JR, Zutshi M, Fazio VW. Course and follow-up of solitary Peutz-Jeghers polyps: A case series. Int J Colorectal Dis 2003;18:33-5.  Back to cited text no. 18
    
19.
Sekino Y, Inamori M, Hirai M, Suzuki K, Tsuzawa K, Akimoto K, et al. Solitary Peutz-Jeghers type hamartomatous polyps in the duodenum are not always associated with a low risk of cancer: Two case reports. J Med Case Rep 2011:5;240.  Back to cited text no. 19
    
20.
Jamaludin AZ, Telisinghe PU, Yapp SK, Chong VH. Solitary duodenal hamartomatous polyp with malignant transformation: Report of a case. Surg Today 2009;39:527-32.  Back to cited text no. 20
    
21.
Ichiyoshi Y, Yao T, Nagasaki S, Sugimachi K. Solitary Peutz-Jeghers type polyp of the duodenum containing a focus of adenocarcinoma. Ital J Gastroenterol 1996;28:95-7.  Back to cited text no. 21
    
22.
Retrosi G, Nanni L, Vecchio FM, Manzoni C, Canali R, Busato G, et al. Solitary Peutz-Jeghers Polyp in a Paediatric Patient. Case Rep Gastroenterol 2010;4:452-6.  Back to cited text no. 22
    
23.
Kitaoka F, Shiogama T, Mizutani A, Tsurunaga Y, Fukui H, Higami Y, et al. A solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum. A case report including results of mutation analysis. Digestion 2004;69:79-82.  Back to cited text no. 23
    
24.
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, et al. Peutz-Jeghers syndrome: A systematic review and recommendations for management. Gut 2010;59:975-86.  Back to cited text no. 24
    
25.
Linhart H, Bormann F, Hutter B, Brors B, Lyko F. Genetic and epigenetic profiling of a solitary Peutz-Jeghers colon polyp. Cold Spring Harb Mol Case Stud 2017;3:a001610.  Back to cited text no. 25
    


    Figures

  [Figure 1], [Figure 2]



 

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