• Users Online: 42
  • Print this page
  • Email this page


 
 
Table of Contents
CASE REPORT
Year : 2020  |  Volume : 3  |  Issue : 2  |  Page : 52-55

Gastrointestinal autonomic nerve tumor of the rectum - A rare case report


1 Department of Surgical Gastroenterology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
2 Department of Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India

Date of Submission03-Jul-2020
Date of Acceptance18-Jul-2020
Date of Web Publication28-Apr-2021

Correspondence Address:
Dr. Santhosh Kumar Ganapathi
S/O G Naga Satyanarayana Rao, H - No 3-53/Korlapati Vari Palem, Ambajipeta, Ambajipeta Mandal, East Godavari District, Andhra Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJCS.IJCS_18_20

Rights and Permissions
  Abstract 

Gastrointestinal stromal tumour (GIST) is the most common mesenchymal, or nonepithelial, neoplasm of the gastrointestinal (GI) tract. Gastrointestinal autonomic nerve tumour (GANT) is a subset of GIST and a very rare mesenchymal tumour with neuronal differentiation. We report a 33-year-old gentleman presented with a chief complaint of perianal pain, itching, and mucus discharge per rectum for the past 4 months. There was no history of bleeding per rectum/loss of weight/loss of appetite. On digital rectal examination: Hard fixed growth at 2–8 O' clock approximately 5 cm from the anal verge and proximal extent could not be felt. Magnetic resonance imaging pelvis revealed a mass lesion involving the inferior two third of the rectum and anal canal predominantly the posterior and lateral walls. Contrast-enhanced computed tomography abdomen and pelvis revealed a heterogeneously enhancing mass involving the lower rectum (involving posterior and both lateral walls) and also circumferentially involving the entire length of anal canal with severe luminal narrowing. Upper border 10 cm from anal verge. Multiple enlarged perirectal/ para-aortic/presacral lymph nodes. Colonoscopy demonstrated an ulceroproliferative growth of 7 cm from anal verge, extending from 2 to 7 o' clock position. Examination was carried out under anaesthesia and biopsy was also done. Biopsy with Immunohistochemical analysis suggestive of GI autonomic nervous system tumour. Treatment Palliative end colostomy was done in view of large locally advanced infiltrating growth involving the lower rectum and anal canal and coccyx.

Keywords: Gastrointestinal autonomic nerve tumor, gastrointestinal stromal tumor, immunohistochemical analysis, mesenchymal tumor with neuronal differentiation


How to cite this article:
Ganapathi SK, Subramanian S, Muralitharan S, Murugesan C. Gastrointestinal autonomic nerve tumor of the rectum - A rare case report. Indian J Colo-Rectal Surg 2020;3:52-5

How to cite this URL:
Ganapathi SK, Subramanian S, Muralitharan S, Murugesan C. Gastrointestinal autonomic nerve tumor of the rectum - A rare case report. Indian J Colo-Rectal Surg [serial online] 2020 [cited 2021 May 16];3:52-5. Available from: https://www.ijcrsonweb.org/text.asp?2020/3/2/52/314974


  Introduction Top


Gastrointestinal stromal tumour (GIST) is the most common mesenchymal, or nonepithelial, neoplasm of the gastrointestinal (GI) tract. GI autonomic nerve tumour (GANT) is a subset of GIST and a very rare mesenchymal tumour with neuronal differentiation.[1] The GANTs were first described and defined by Herrera et al. in 1984.[2] GANTs are uncommon stromal tumours accounting for 0.1% of benign tumours of the GI tract.[3] They can involve any part of the GI tract but are very rarely seen in the colon and rectum.


  Case Report Top


A 33-year-old gentleman presented with a chief complaint of perianal pain, itching, and mucus discharge per rectum for the past 4 months.

There was no history of bleeding per rectum/loss of weight/loss of appetite.

His history was not significant.

Examination

On per abdomen: Soft. No organomegaly.

On digital rectal examination: Hard fixed growth at 2–8 O' clock approximately 5 cm from the anal verge and proximal extent could not be felt.

Investigations

Magnetic resonance imaging pelvis [Figure 1] and [Figure 2]
Figure 1: Circumferential lesion in the rectum

Click here to view
Figure 2: Circumferential lesion in the rectum causing severe luminal narrowing

Click here to view


MRI revealed a mass lesion involving the inferior two-third of the rectum and anal canal predominantly the posterior and lateral walls.

Contrast-enhanced computed tomography abdomen and pelvis [Figure 3],[Figure 4],[Figure 5]
Figure 3: Heterogeneously enhancing mass involving the lower rectum

Click here to view
Figure 4: Coronal view showing heterogeneously enhancing mass lesion

Click here to view
Figure 5: Lesion at the rectosigmoid junction struck to the presacral fascia

Click here to view


Contrast-enhanced computed tomography revealed a heterogeneously enhancing mass involving the lower rectum (involving posterior and both lateral walls) and also circumferentially involving the entire length of anal canal with severe luminal narrowing. Upper border 10 cm from anal verge. Multiple enlarged perirectal/para-aortic/presacral lymph nodes.

Colonoscopy [Figure 6]
Figure 6: Ulceroproliferative growth in the rectum

Click here to view


Colonosopy demonstrated an ulceroproliferative growth of 7 cm from anal verge, extending from 2 to 7 o' clock position.

Examination was carried out under anesthesia and biopsy was also done.

Biopsy [Figure 7],[Figure 8],[Figure 9],[Figure 10]
Figure 7: H and E staining showing tumor in the submucosal region

Click here to view
Figure 8: H and E staining showing epitheloid cells with scanty cytoplasm arranged in clusters and cords

Click here to view
Figure 9: H and E staining showing epitheloid cells with mitosis

Click here to view
Figure 10: S100 strong positivity

Click here to view


Biopsy demonstrated an epitheloid spindle cell tumour of the neural origin.

Colonic mucosa with infiltrating lesion composed of atypical cells with moderate cytoplasm arranged in sheets and small clusters.

CK7, CK20, P63, synaptophysin, CD45, CKit, DOG1, SAT B2, SMA, desmin, CD34, HMB 45 showed negativity.

Vimentin and S100 – showed strong diffuse positivity.

Suggestive of GI autonomic nervous system tumour.

Treatment

Palliative end colostomy was done in view of large locally advanced infiltrating growth involving the lower rectum and anal canal and coccyx.

There was another lesion at rectosigmoid junction, struck to the presacral fascia at the level of the sacral promontory.

Multiple lymph nodes involving the mesorectum iliac vessels and para-aortic nodes.

No ascites or peritoneal deposits.

Palliative radiotherapy: 28 fractions.


  Discussion Top


GANTs are extremely rare GI tumours. The GANTs were first described and defined by Herrera et al. in 1984.[2] Since its first description in 1984, approximately 107 cases of GANT have been reported in the English literature.[4] The first fully documented case report of rectal GANT was published in 2000 by Lev et al.[5]

They occur at any age but most commonly in the 6th–7th decades of life. The clinical symptoms are usually nonspecific. The most common presentation is abdominal pain, fullness, GI bleeding, and iron deficiency anemia.[4-8]

The choice of endoscopic or radiological investigations is dictated by the tumour location and the clinical presentation. For colorectal GANTs, colonoscopic examination is recommended. The diagnosis of GANT is usually made on electron microscopic and immunohistochemical analysis.[9] However, electron microscopy is hardly available. Hence, the diagnosis is often made on immunohistochemistry and light microscopy. The real distinction between the GIST and GANT is made on the basis of the unique ultrastructural features of GANTs on electron microscopy.[10] The unique ultrastructural features of GANT are the presence of dendritic processes with dense neuroendocrine granules.[11] The mainstay of GANT treatment is radical surgical resection.[4],[5],[7] This offers the only chance of cure and hope of survival. Two major problems encountered with radically resected GANTs are local recurrences and metastasis.

Conventional chemotherapy and radiotherapy are believed to be ineffective.[12] However, for metastatic or unresectable CD117-positive GANT, imatinib was confirmed to be effective.[13]

Prognosis

GANTs are apparently slow-growing tumours with malignant potential and aggressive clinical course that is often associated with poor prognosis.[4],[7]


  Conclusion Top


GANT, a subset of GIST, is a very rare tumour in the GI tract, especially in the rectum. They arise from the autonomic nerve plexus of the GI tract. The accurate diagnosis is made by electron microscopic and immunohistochemical analysis. Radical surgical resection offers the only possible hope of cure and survival. Role of chemotherapy is confined to imatinib which is effective in cases of metastatic or inoperable CD117-positive GANTs. The poor response to adjuvant therapy and aggressive behavior calls for urgent need to develop new adjuvant therapies.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Miettinen M, Lasota J. Gastrointestinal stromal tumors: Definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 2001;438:1-12.  Back to cited text no. 1
    
2.
Herrera GA, DeMoraes HP, Grizzle WE. Malignant small bowel neoplasm of enteric plexus derivation (plexosarcoma): Light and electron microscopic study confirming the origin of the neoplasm. Dig Dis Sci 1984;29:275-84.  Back to cited text no. 2
    
3.
Maciejewski A, Lange D, Wloch J. Case report of schwannoma of the rectum – Clinical and pathological contribution. Med Sci Monit 2000;6:779-82.  Back to cited text no. 3
    
4.
Meshikhes AW, Al-Momen SA. Gastrointestinal autonomic nerve tumors: A clinical review. J Gastrointest Surg 2015;19:1144-56.  Back to cited text no. 4
    
5.
Lev D, Kariv Y, Messer GY, Isakov J, Gutman M. Gastrointestinal autonomic nerve (GAN) tumor of the rectum. J Clin Gastroenterol 2000;30:438-40.  Back to cited text no. 5
    
6.
Lauwers GY, Erlandson RA, Casper ES, Brennan MF, Woodruff JM. Gastrointestinal autonomic nerve tumors. A clinicopathological, immunohistochemical, and ultrastructural study of 12 cases. Am J Surg Pathol 1993;17:887-97.  Back to cited text no. 6
    
7.
Shanks JH, Harris M, Banerjee SS, Eyden BP. Gastrointestinal autonomic nerve tumours: A report of nine cases. Histopathology 1996;29:111-21.  Back to cited text no. 7
    
8.
Segal A, Carello S, Caterina P, Papadimitriou JM, Spagnolo DV. Gastrointestinal autonomic nerve tumors: A clinicopathological, immunohistochemical and ultrastructural study of 10 cases. Pathology 1994;26:439-47.  Back to cited text no. 8
    
9.
Pinedo Moraleda F, Martínez González MA, Ballestín Carcavilla C, Vargas Castrillón J. Gastrointestinal autonomic nerve tumours: A case report with ultrastructural and immunohistochemical studies. Histopathology 1992;20:323-9.  Back to cited text no. 9
    
10.
MacLeod CB, Tsokos M. Gastrointestinal autonomic nerve tumor. Ultrastruct Pathol 1991;15:49-55.  Back to cited text no. 10
    
11.
Rueda O, Escrlbano J, Vicente JM, Garcia F, Villeta R: Gastrointestinal autonomic nerve tumours (plexosarcomas). Is a radiological diagnosis possible? Eur Rad 1998;8:458-60.  Back to cited text no. 11
    
12.
Beck A, Jonas J, Frenzel H, Bähr R. Gastrointestinal autonomic nerve tumor. Zentralbl Chir 2001;126:702-6.  Back to cited text no. 12
    
13.
Watanabe A, Ojima H, Suzuki S, Mochida Y, Hirayama I, Hosouchi Y, et al. An individual with gastric schwannoma with pathologically malignant potential surviving two years after laparoscopy-assisted partial gastrectomy. Case Rep Gastroenterol 2011;5:502-7.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]



 

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)  

 
  In this article
Abstract
Introduction
Case Report
Discussion
Conclusion
References
Article Figures

 Article Access Statistics
    Viewed195    
    Printed2    
    Emailed0    
    PDF Downloaded33    
    Comments [Add]    

Recommend this journal