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Table of Contents
CASE REPORT
Year : 2020  |  Volume : 9  |  Issue : 2  |  Page : 116-119

Melanotic neuroectodermal tumour of infancy with unexpected peri-operative complications


1 Department of Pathology, GSL Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India
2 Department of Anesthesiology and Critical Care, GSL General Hospital and Medical College, Rajahmundry, Andhra Pradesh, India
3 Department of Surgery, GSL General Hospital and Medical College, Rajahmundry, Andhra Pradesh, India

Date of Submission20-Apr-2019
Date of Decision11-Nov-2019
Date of Acceptance27-Feb-2020
Date of Web Publication4-Aug-2020

Correspondence Address:
Manisha Mohapatra
Professor, Department of Pathology, GSL Medical College and General Hospital, NH-16, Lakshmipuram, Rajahmundry 533 296, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JCSR.JCSR_51_19

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  Abstract 


Melanotic neuroectodermal tumour of infancy (MNTI) is a rare rapidly growing, expansile, locally aggressive pigmented neoplasm of neural crest origin and usually encountered in children below 1 year of age in the anterior maxillary region. MNTI is documented as benign neoplasm, but occasional tumours exhibit malignant behaviour with lymph nodal metastasis. Although most of these cases are treated successfully, there is a chance of recurrence in tumours without clear margin which varies from 10% to 50%. In isolated cases, death occurs due to advanced stage of the disease with recurrence and malignant transformation. Here, we report the rare case of MNTI of the left maxilla diagnosed in a 5-month-old boy basing on cytological and histopathological features and subsequently confirmed by immunohistochemical findings. The unexpected perioperative complications encountered in this case in the form of difficulty in airway access, post-surgery pulmonary complications, multi- organ dysfunction, sepsis and other related issues are discussed here which have never been documented in any literature.

Keywords: Melanotic neuroectodermal tumour of infancy, peri-operative complications, pigmented neoplasm, progonoma


How to cite this article:
Mohapatra M, Murthy TS, Murthy KV. Melanotic neuroectodermal tumour of infancy with unexpected peri-operative complications. J Clin Sci Res 2020;9:116-9

How to cite this URL:
Mohapatra M, Murthy TS, Murthy KV. Melanotic neuroectodermal tumour of infancy with unexpected peri-operative complications. J Clin Sci Res [serial online] 2020 [cited 2020 Sep 25];9:116-9. Available from: http://www.jcsr.co.in/text.asp?2020/9/2/116/291378




  Introduction Top


Melanotic neuroectodermal tumour of infancy (MNTI), also known as melanotic progonoma, is an uncommon fast-growing pigmented neoplasm of neural crest origin usually encountered in infants below 1 year of age. However, few cases have been documented in older children and adults.[1] Tumour mostly arises from the anterior maxillary region but can occur in other locations such as the mandible, skull, brain, mediastinum, epididymis, thigh, foot and shoulder.[2] Although MNTI is documented as benign neoplasm, it is a locally aggressive tumour, occasionally exhibits malignant behaviour with local lymph node metastasis.[3] Nearly 268 cases have been reported till date in the English literature.[4],[5] Here, we describe the clinical, fine-needle aspiration cytology (FNAC), histopathological and immunohistochemical features of another case of MNTI of maxilla diagnosed in a 5-month-old boy. The issue of difficult airway access in view of the large intraoral mass and the subsequent complications encountered post- operatively in the form of pneumothorax, surgical emphysema, multiorgan dysfunction, sepsis and septic shock with renal failure are highlighted.


  Case Report Top


A 5-month-old boy was admitted into our hospital with a history of a rapidly growing mass in the left maxillary region and inability to close the mouth for 4 months. The child had received all the immunisation as per the routine schedule, and there was no delay in the development of milestones. On examination, there was an ulcerated, reddish-brown coloured mass with an attached tooth protruding out of the oral cavity involving the left premaxilla ([Figure 1]a). Computerised tomography scan of the face revealed an expansile lytic soft-tissue density mass arising from the left maxilla ([Figure 1]b). The case was clinically diagnosed to be odontogenic tumour; following differential diagnoses were considered: (i) juvenile ossifying fibroma, (ii) eosinophilic granuloma and (iii) alveolar malignancy. The case was planned for pre-operative FNAC on table followed by wide excision of the tumour. The sizeable oral lesion occupying almost the entire oral cavity caused a pre-operative concern for airway access.
Figure 1: Clinical photograph showing an exophytic intraoral mass with attached tooth (a). Computed tomography showing soft-tissue density mass in the left maxilla (b). Fine-needle aspiration cytosmears showing clusters, discretely scattered small round cells, nest of large cells (Leishman, ×100) (c) and large epithelial cells with intracytoplasmic brown/black melanin pigments (Leishman, ×400) (d)

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The major issue was securing a safe airway rather than the tumour excision ([Figure 1]a). General anaesthesia with endotracheal intubation remained the preferred choice. In view of severely restricted opening of the oral cavity, an emergency tracheostomy was performed when all attempts to intubate the child failed by conventional methods. The tracheostomy was performed with improvised 3.5-mm endotracheal tube as no tracheostomy tube of such size was available. Wide excision of the tumour was done under general anaesthesia and excised mass was sent for histopathological examination. Post-operatively, the child was extubated after 24 h when he was conscious with adequate respiratory efforts and stable vital parameters after closing tracheostomy by pressure dressing. On day 2, the child developed sudden unexpected pneumothorax and surgical emphysema following a leak from the tracheostomy site which was only closed with a pressure dressing, leading to desaturation and respiratory distress for which the child was intubated and ventilated. The child remained on ventilator support and bilateral chest drains. He progressively deteriorated over the next 5 days and developed sepsis, multi-organ system failure, acute kindey injury. Supportive management was instituted, mechanical ventilation and peritoneal dialysis were administered. The child succumbed to the complications.

Fine-needle aspiration from the left maxillary tumour yielded blood-mixed material. Microscopically, aspirate cytosmears were highly cellular showing few clusters and numerous discretely scattered tumour cells. These tumour cells were uniform looking small round-to-oval cells (2–3 times of red blood cell) having scanty basophilic/indistinct cytoplasm exhibiting round-to-oval nuclei with a fine chromatin pattern. Admixed with these cells were seen few large round-to-oval cells having fair amount of basophilic cytoplasm showing central/eccentrically placed hyperchromatic round-to-oval nuclei some showing fair amount of dark blue cytoplasm with brown/black pigmentation. Focal area showed extracellular dark-brown melanin pigmentation ([Figure 1]c and d). Based on the cytomorphology, the diagnosis of MNTI was offered. Gross histopathological examination of the biopsy specimen comprised a part of maxilla with an exophytic tumour along with an attached tooth measuring 6.0 cm × 4.0 cm × 4.0 cm. The external appearance of the tumour was grey brown, grey white and glistening. Cut section revealed a firm-to-hard tumour measuring 5.0 cm × 3.5 cm showing multiple foci of black-coloured solid areas along with a cystic area.

Microsections from soft-tissue bits showed oral mucosa lined by stratified squamous epithelium along with an underlying highly cellular tumour arranged in solid nests, islands, lobules, clusters, at places in cystic areas interspersed with dense fibrocollagenous tissue ([Figure 2]a and [Figure 2]b). The tumour showed a biphasic appearance comprising of – (i) predominantly small round-to-oval neuroblast-like cells in the centre of the tumour islands having scanty pale eosinophilic/vacuolated cytoplasm exhibiting round-to-oval vesicular nuclei, fine chromatin, some showing conspicuous nucleoli and (ii) large round-to-oval cells at the periphery having scanty eosinophilic/clear cytoplasm many showing intracytoplasmic melanin pigmentation with large round-to-oval nuclei exhibiting vesicular chromatin and prominent nucleoli. Stroma showed areas of haemorrhage, necrosis and neutrophilic infiltration and focal extracellular melanin pigmentation ([Figure 2]c and [Figure 2]d). Sections from the decalcified bone tissue showed invasion by the tumour.
Figure 2: Gross specimen photograph showing grey-brown tumour with multiple solid black areas (a and b). Photomicrograph showing islands of biphasic tumour cells comprising central small round cells (Haematoxylin and eosin, ×100) (c and d) and peripheral large epithelial cells containing melanin (H and E, ×400)

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Immunohistochemistry marker study revealed strong cytokeratin and HMB45 positivity in the large epithelial cells, whereas chromogranin was focally positive in both small neuroblast like and large cells ([Figure 3]a, [Figure 3]b, [Figure 3]c) confirming the diagnosis of MNTI.
Figure 3: Photomicrograph showing cytokeratin-positive epithelial cells (immunohistochemistry, ×400) (a), HMB45-positive epithelial cells (b) and focal chromogranin positivity in small and large cells (×400) (c)

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  Discussion Top


A wide spectrum of tumours are seen in the oral cavity in neonates and infants which include benign and malignant tumours.[6] MNTI is a rapidly growing, painless, expansile, unencapsulated partly pigmented mass, typically located in the maxillary region and has potential to invade into the surrounding tissue and bone. The tumour was coined with various names in past years such as congenital melanocarcinoma, melanotic epithelial odontome, melanotic ameloblastoma, retinal anlage tumour, melanotic progonoma, pigmented adamantinoma, congenital pigmented epulis and melanocytoma.[7] Initially thought to be of odontogenic origin but now proved to be a neuroectodermal tumour originating from neural crest cells with the expression of neural, epithelial markers and melanin production. During embryogenesis, neural crest cells arise from embryonic neuroectoderm as paired strips of cells at the borders or neural folds of neural plate. These borders later converge at the dorsal midline to form neural tube and the cells located at the borders become the neural crest cells. Subsequently, these neural crest cells are separated from the dorsal neural tube and migrate into different peripheral locations where they differentiate into various tissues according to the four types of cell lineages such as cranial, truncal, sacral and vagal and cardiac cells. Hence, a variety of tissues develop from these cells such as cranial ganglia, craniofacial bones and cartilage, thymus, bones of middle ear and jaw, odontoblasts, dental papilla, melanocytes, sympathetic and parasympathetic ganglia, adrenal medulla, ganglia of the enteric nervous system, enterochromaffin cells and heart. Very little is known about the aetiology; only a stray report depicts that a combined effect of germ line mutation CDKN2A (p16 Ink4, D74a), tumour promoting somatic gene fusion and epigenetic dysregulation lead to tumour formation.[8]

Surgical removal of the tumour with wide excision appears to be the best treatment for MNTI.[9] The recurrence rate varies from 15% to 50% in cases without wide excision.[10] Malignant transformation has been documented in 6.6% of cases.[6],[10] Adjuvant therapy like chemotherapy and radiotherapy are reserved for tumours without a clear margin leading to incomplete surgical excision of tumour.[7] Death has been reported in isolated cases with highly advanced disease or malignant transformation.[3]

The rationale behind this case report is to present the clinicopathological features and to highlight the difficulty in airway access for large intraoral mass in a very small under nourished child as well as the unexpected post-surgical complications following successful surgical removal of the tumour which have not been reported any time in literature. Hence, the awareness of such unusual perioperative complications can enable the treating clinicians to take necessary precautionary measures for safe and successful management of this rare entity.

Acknowledgement

The authors are thankful to the Department of Radiodiagnosis and Histopathology technicians of Department of Pathology, GSL Medical College, Rajahmundry, Andhra Pradesh, India, for their help and support.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Agarwal P, Saxena S, Kumar S, Gupta R. Melanotic neuroectodermal tumor of infancy: Presentation of a case affecting the maxilla. J Oral Maxillofac Pathol 2010;14:29-32.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
Johnson RE, Scheithauer BW, Dahlin DC. Melanotic neuroectodermal tumor of infancy. A review of seven cases. Cancer 1983;52:661-6.  Back to cited text no. 2
    
3.
Nicosia G, Spennato P, Alibertin F, Cascone D, Quaglietta L, Errico ME. Giant melanotic neuroectodermal tumor of infancy (melanotic progonoma) of the head and neck: Report of a malignant case. J Neurosurg Pediatr 2017;19:538-45.  Back to cited text no. 3
    
4.
Hamilton S, Macrae D, Agrawal S, Matic D. Melanotic neuroectodermal tumour of infancy. Can J Plast Surg 2008;16:41-4.  Back to cited text no. 4
    
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de Souza DF, Sendyk DI, Seo J, da Fonseca EV, Naclério-Homem MG, Deboni MC. Melanotic neuroectodermal tumor of infancy in the maxilla. Case Rep Dent 2013;2013 726815.  Back to cited text no. 5
    
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Patil S, Rao RS, Majumdar B, Jafer M, Maralingannavar M, Sukumaran A. Oral lesions in neonates. Int J Clin Pediatr Dent 2016;9:131-8.  Back to cited text no. 6
    
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Kumar A, Deepthi V, Aggarwal R, Aiyer HM. Melanotic neuroectodermal tumor of infancy: A rare case report. J Oral Maxillofac Pathol 2018;22:S44-7.  Back to cited text no. 7
    
8.
Barnes DJ, Hookway E, Athanasou N, Kashima T, Oppermann U, Hughes S, et al. A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: A case report. BMC Cancer 2016;16:629.  Back to cited text no. 8
    
9.
Blank E, Runckel DN. Melanotic progonoma. Case report 11. Skeletal Radiol 1980;5:179-8.  Back to cited text no. 9
    
10.
Butt FM, Guthua SW, Chindia ML, Rana F, Osundwa TM. Early outcome of three cases of melanotic neuroectodermal tumour of infancy. J Craniomaxillofac Surg 2009;37:434-7.  Back to cited text no. 10
    


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  [Figure 1], [Figure 2], [Figure 3]



 

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