Abstract
Neurofibromatosis 1 is an autosomal dominant genetic disorder and is associated with neuroectodermal tumours arising within multiple organs. Gastrointestinal stromal tumours are seen as a common manifestation of NF 1, but association of ganglioneuromas with neurofibromatosis type 1 is uncommon. Gastrointestinal stromal tumours in NF 1 is commonly located in the small intestine and they can present with gastrointestinal haemorrhage and diagnostic suspicion is essential in these patients to ensure appropriate management. Among the neurofibromatosis type 1 patients only 10-25% may present with intra-abdominal manifestations, and only 5% of them are symptomatic and surgery is required only for 2.5%. We present a case of 39 year old female with NF1 who presented with complaints of recurrent melena and anaemia. At laparotomy multiple GISTs were seen arising from small intestine and a ganglioneuroma arising in the presacral was noted. All these masses were resected along with the neurofibromas present in the midline of anterior abdominal wall. Final diagnosis based on the histopathology was neurofibroma, ganglioneuroma and gastrointestinal stromal tumour. Presacral ganglioneuromas are very rare and only less than 20 cases have been reported so far in literature.
Keywords: Neurofibromatosis 1, Jejunum, Melena, Gastrointestinal Hemorrhage.
References
- Laycock-van Spyk S, Thomas N, Cooper DN, Upadhyaya M. Neurofibromatosis type1- associated tumours;their somatic mutational spectrum and pathogenesis. Hum Genomics 2011;5:623-90.
- Dimitrova V, Yordanova I, Pavlova V, Valtchev V, Gospodinov D, Parashkevova B,et al. A case of neurofibromatosis type 1. Journal of IMAB. 2008;14:63-67.
- Miettinen M, Fetsch JF, Sobin LH et al. Gastrointestinal stromal tumours in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. AmJ SurgPathol. 2006;30:90-96.
- Charles J, Tomajian S, Kaye AJ, Russo S, Abadie JV, Kaye AD. Perioperative management of neurofibromatosis type 1.Ochsner J. 2012;12(2):111-121.
- Agaimy A, Vassos N, Roland S Croner. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen disease): clinicopathological spectrum with pathogenic considerations. Int J ClinExp Path. 2012;5(9):852-862.
- Sanchez- Hidalgo JM, Duran-Martinez M, Molero-Payan R,Rufian-Pena S, Arjona- Sanchez A, Casado- Adam A, et al. Gastrointestinal stromal tumours: a multidisciplinary challenge. World J Gastroenterol. 2018;24(18):1925-1941.
- De la Fuente N, Rodriguez Blanco M, Cerdan G, Artigas V. Acute gastrointestinal bleeding, multiple GIST and Intestinal ganglioneuromatosis in a patient with neurofibromatosis. Cir Esp. 2019;97(4):237-239.
- Brems H, Beert E, de Ravel T, Legius E.Mechanisms in the pathogenesis of malignant tumours of neurofibromatosis type 1. Lancet oncol. 2009;10(5):508-515.
- Brems, E Legius. Neurofibromatosis type 1.Fletcher DM, Bridge JA, Hogendoorn CW, Mertens F ed.WHO classification of tumours of soft tissue and bone. 4th edition.Lyon. 2013.286-287.
- Niinuma M, Suzuki H, Sugai T. Molecular characterization and pathogenesis of gastrointestinal stromal tumour. Transl Gastroenterol Hepatol. 2018;3:2.
- Dabrowska-Thing A, Rogowski W, Pacho R, Nawrocka-Laskus E, Nitek Z. Retroperitoneal ganglioneuroma mimicking a kidney tumour. Case Pol J Radiol. 2017;82:283-286.
- Cerullo G, Marrelli D, Rampone B, Miracco C, Caruso S, Di Martino M, et al. Presacral ganglioneuroma: A case report and review of literature. World J Gastroenterol. 2007;13(14):2129-31.
- Lee D, Choe WJ, Lim SD. Ganglioneuroma of the sacrum. Korean J Spine. 2017;14(3):106-108.
- Kirchweger P, Wundsam H, Fischer I, et al. Total resection of a giant retroperitoneal and mediastinal ganglioneuroma –case report and systematic review of the literature. World J Surg Oncol.2020;18(1).
- Paasch C, Harder A, Gatzky EJ, Ghadamghai E, Spuler A, Siegel R. Rretroperitoneal paravertebral ganglioneuroma: a multidisciplinary approach facilitates less radical surgery. World J Surg Oncol. 2016;14(1):194.
Corresponding Author
Jaseela TK
Department of Pathology, Government medical college Kottayam, Kerala
DOI: https://dx.doi.org/10.18535/jmscr/v9i8.01
