Y syndrome is a rare autosomal dominant disease

Y Agrawal1, R Shah1, B R Joshi2,
V Kattel3

Department of Pathology1, Department of Surgery2,
Department of Internal Medicine3

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Corresponding
Author:  Dr. Yamuna Agrawal

                                      
Assistant professor, Department of Pathology, BPKIHS, Dharan.

                                       Email: [email protected]

Introduction:

Juvenile polyposis syndrome
is a rare autosomal dominant disease characterized by varying size of polyps,
primarily in the colorectal segment of large intestine.1 The term
“juvenile” refers to the type of polyp rather than the age of the patient when
the polyp develops.2

The frequency of this
syndrome is approximately one per 100,000 – 160,000 births. The age at
diagnosis varies considerably, but symptoms usually present in the first and
second decade.3 The diagnostic criteria for juvenile polyposis
syndrome was established in 1975 and later revised by Jass et.al.4
According to these one of three criteria must be present:

1.     
>5 juvenile polyps in the large
intestine or/and

2.     
Multiple juvenile polyps throughout the
gastrointestinal tract or/and

3.     
Any number of juvenile polyps with a
family history of juvenile polyposis

About 20 – 50% of
affected patients have a positive family history.3 Affected children
are susceptible to cancers and fatal medical condition.5

The common
presentations are anemia, recurrent gastrointestinal bleeding, and diarrhea
however it can be associated with rectal prolapse, intussusception, protein
losing enteropathy, starvation and malnutrition.6   

Case
report:

A 16 year old boy
presented with anemia, hypoalbumenia and bleeding per rectum associated with mass
coming out per anus for 2 to 3 years. He had alternating diarrhea and
constipation with episodic mild abdominal pain. Colonoscopy showed multiple
polyps of varying size of both sessile and pedunculated in the rectum and
entire colon. Polyps from rectum were sent for histopathological examination
revealing benign adenoma. Clinical diagnosis of Familial Adenomatous Polyposis
was made and counseled for pan-colectomy.

Macroscopy examination
on cut opening of specimen multiple colorectal polyps of varying sizes on the
mucosal surface was present. The outer surface of polyp was smooth and
glistening. Cut surface revealed solid gray white to tan red with few cystic
spaces contains jelly like material of size ranging from 0.1 to 0.2cm.

Microscopy examination
of the representative section from entire tissue showed multiple polypoidal
tissue revealing tortous gland with budding and branching. (Figure 1) The
glands were lined by mucus secreting columnar cells and contain eosinophilic
material. The stroma in between the glands containing acute and chronic
inflammatory cells as well as granulation tissue and hemorrhage. The overlying
lining epithelium was partly eroded and partly lined by tall columnar cells.
(Figure 2 and 3) Overall histopathological examination, a diagnosis of Juvenile
Polyposis Syndrome was made.

Discussion:

Juvenile polyposis
syndrome is an autosomal dominant condition that predisposes gene carriers to
various types of tumors. The diagnosis is based on the occurrence of
hamartomatous gastrointestinal polyps that turn into malignant lesions in
approximately 20% of cases.7

Juvenile polyposis
syndrome demonstrated different heterozygous mutations in the SMAD4 gene
located on chromosome 18q21.1 and BMPR1 on chromososme 10q21.8  Given the risk of gastrointestinal cancer
associated with juvenile polyposis, molecular diagnostics optimize management
at the family level within a genetics consultation. When the casual mutation of
SMAD4 is evidence in the family, based on one member affected, research may be
extended to relatives at risk, especially to siblings and children whose
theoretical risk of being carriers is 50%9.

In our patient there
was a family history of rectal polyp and had history of malignancy to cousin.
In case of family history this analysis allows routine screening colonoscopy is
recommended from the age of 10 -12 years, colonoscopy must be performed every 2
years until age 40 or beyond if a genetic diagnosis has been established. When
the mutation is not identified monitoring should be considered in all relatives
at high risk.9

It is estimated that
between 1 in 16,000 and 1 in 100,000 people has juvenile polyposis syndrome.10
Most people develop symptoms by the time of 20 years old. It is most often growing
in the large intestine (colon) and rectum as in our case but also grows in the
stomach and more rarely the small intestine.10

Macroscopically it
varies in size from 5mm to 50mm and has spherical, lobulated and pedunculated
appearance with surface erosion. Microscopically a juvenile polyposis is
characterized by an abundance of edematous lamina propria with inflammatory
cells and cystically dilated glands lined by cuboidal to columnar epithelium
with reactive changes.11

These polyps may be the
seat of focus of dysplasia and in some cases; true adenomas were described in
their vicinity.11 Our patient macroscopically and microscopically
showed as solitary juvenile polyposis syndrome, neither a contingent of
adenomas or dysplasia.

 

The treatment depends
on the clinical presentation, location and number of polyps. Routine
colonoscopy with endoscopic polypectomy is the most effective treatment of
solitary polyps. However, subtotal or total gastrectomy or pan colectomy may be
necessary to alleviate symptoms and/or reduce cancer risk when a large number
of polyps are present.12

Pan colectomy in our
patient was definitive cure for rectal bleeding and prevention of development
of malignancy.

Conclusion:

Juvenile polyposis
syndrome is a rare disease usually among
teen but can be fatal or incurable that can be prevented by surgical
intervention. The screening of subclinical disease in family with colonoscopy
is beneficial.

References:

 

1.      Lodewijk
A.A. Brosens, W. Arnout van Hattem, Marnix Jansen,Wendy W.J. de

Leng,
Francis M. Giardiello and G. Johan A. Offerhaus. Gastrointestinal Polyposis Syndromes.
Current Molecular Medicine 2007; 7: 29-46.

2.      An
introduction to juvenile polyposis syndrome. www.stmarkshospital.nhs.uk/wp-content/juvenile-polyposis-syndrome
– JPS.pdf

 

3.      Manfredi
M: Hereditary hamartomatous polyposis syndrome: understanding the disease risks
as children reach adulthood. Gastroenterol Hepatol (N Y) 2010; 6: 185-196.

 

4.      Jass
JR, Williams CB, Bussey HJ, Morson BC: Juvenile polyposis – a precancerous
condition. Histopathology 1988; 13: 619-630.

 

5.      Vargas-Gonzalez
R, de la Torre-Mondragon L, Aparicio-Rodriguez JM, Paniagua Morgan F, Lopez-
Hernandez G, Garrido-Hernandez MA, Nunez- Barrera S. Juvenile polyposis of
infancy associated with paracentric inversion and deletion of chromosome 10 in
a Hispanic patient: a case report. Pediatr Dev Pathol 2010; 13: 486-91.

 

6.      Yi-Han
Hsiao, Chin-Hung Wei, Szu-Wen Chang, Lung Chang, Yu-Wei Fu, Hung-Chang Lee,
Hsuan-Liang Liu, Chun-Yan Yeung. Juvenile polyposis syndrome: An unusual case
report of anemia and gastrointestinal bleeding in young infant. Hsiao et al.
Medicine 2016; 95:37.

 

7.      Handra-Luca
A, Condroyer C, de Moncuit C, Tepper M, Flejou JF, Thomas G, Olschwang S.
Vessels morphology in SMAD4 and BMPR1 A-realated juvenile polyposis. Am J Med
Genet A. 2005; 138A (2): 113-7.

 

8.      Howe
JR, Roth S, Ringold JC, Summers RW, Jarvinen HJ, Sistonen P, Tomlinson IP,
Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA. Mutation in the
SMAD4/DPC4 gene in juvenile polyposis. Science. 1998; 280 (5366): 1086-8.

 

9.      Mounia
EI Yousfi, Bahija Benyachou, Adil Ibrahimi, Laila Chbani, Afaf Amarti. Young
patient with juvenile polyposis syndrome: A case report. Open journal of
Gastroenterology. 2012; 2: 105-108.

 

10.  Cleveland
Clinic. Genomic Medicine Institute: Juvenile polyposis syndrome. https://my.clevelandclinic.org/health/articles/Juvenile-polyposis-syndrome
 2017 march 30.

 

11.  Lodewijk
AA Brosens, Danielle Langeveld, W Arnout Van Hattem, Francis M Giardiella, G
Johan A Offerhaus. Juvenile polyposis syndrome. World J Gastroenterol. 2011; 17(44):
4839-4844.

 

12.  Samuel
Essoun, Jonathan CB Dakubo, Antoinette A Bediako-Bowan. Juvenile polyposis
syndrome – Two case reports. Journal of case reports. 2014; 4(2): 395-399.

 

 

 

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