|Ahead of print
Calvarial melanotic neuroectodermal tumor of infancy: A rare case report
Pratap Kumar Nandigama, Srikrishnaditya Manne, Siddartha Reddy Musali, Hemant Kumar Beniwal, Gollapudi Prakash Rao
Department of Neurosurgery, Gandhi Medical College and Hospital, Padmarao Nagar, Secunderabad, Telangana, India
|Date of Submission||17-Apr-2021|
|Date of Decision||30-Jun-2021|
|Date of Acceptance||18-Jun-2021|
|Date of Web Publication||30-Jan-2023|
Department of Neurosurgery, 4th Floor, Gandhi Medical College and Hospital, Padmarao Nagar, Secunderabad, Telangana 500003
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Background: Melanotic neuroectodermal tumor of infancy (MTNI) is a rare congenital tumor of neural crest origin. It is a locally aggressive tumor affecting infants during the first year of life. It commonly arises in the maxilla, mandible, and in the cranial vault. MTNI is usually a benign lesion. Occasionally, it may turn malignant. Though the tumor can be detected by computed tomography and magnetic resonance imaging, an exact diagnosis can only be made by histopathology and immunostaining. Complete surgical excision of the tumor is the gold standard treatment of choice. Benign cranial vault tumors have a good prognosis in contrast to malignant tumors. Case Description: A 3-year-old male child was brought by his mother to the outpatient department with complaints of a large swelling on the left temporal-parieto-occipital region. Computed tomography and magnetic resonance imaging were done which revealed a large hyperdense and hypointense mass in the left temporal-parieto-occipital region with lytic alterations in the skull. The tumor was excised, and tissue sent for histopathology and immunostaining, which revealed a diagnosis of a malignant neuroectodermal tumor of infancy. The patient recovered well in the follow-up period. Conclusion: We report an exceedingly rare case of giant malignant neuroectodermal tumor of infancy (progonoma).
Keywords: Giant, infancy, malignant, neuroendocrine, progonoma, tumor
| Introduction|| |
Melanotic neuroectodermal tumor of infancy (MTNI) is a rare osteolytic locally aggressive tumor of neural crest cell origin occurring in infants. It usually presents in the head and neck region, more commonly in the maxilla followed by skull and mandible.
Patients present with a painless, progressive bony swelling that may result in skull deformation. Although MTNI is a benign tumor, a malignancy rate of 6.6% has been reported. Surgical excision is the treatment of choice in benign lesions; however, in a malignant tumor, surgery may be combined with adjuvant chemotherapy. Recurrence rate has been reported as 15–60%. Prognosis is good in the case of benign MTNI.
| Case Report|| |
A 3-year-old male child was brought by his mother to the outpatient department with complaints of a large swelling on the left temporal-parieto-occipital region which she noticed initially when the boy was 2 months; since then, there was a gradually progressive growth. No complaints of headache or pain associated with the swelling. No history of vomiting, seizures, and neurological deficits. The child was born out of cesarean section and had no developmental milestone delay. On examination, he had a single hard, smooth, 6 × 7 cm swelling in the left temporal-parieto-occipital region [Figure 1].
Neurological examination was normal, and he had no palpable lymph nodes. Computed tomography of the brain with calvarial sections revealed an expansile sclerotic lesion involving the left posterior part of the temporal bone and parietal and occipital bone with multiple areas of vascular channels within. [Figure 2] and [Figure 3] show involvement of the soft tissue component along the left parietal convexity without any cortical breach. An expansile lesion showing T1W and T2W hypointensity involving the left temporal, parietal, and occipital bone with mass effect in the form of mild compression and displacement of left temporal bone and cerebellum medially with no supratentorial hydrocephalus was noted on magnetic resonance imaging of brain [Figure 4] and [Figure 5]. Wide excision of the tumor with the surrounding bone was done and tissue was sent for histopathological examination.
|Figure 3: Computed tomography scan showing the lesion in relation to the brain|
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Histological examination [Figure 6] and [Figure 7] revealed bony lamella separated by fibrovascular marrow with focal areas showing groups of round cuboidal cells with intracytoplasmic pigment melanin and islands of cuboidal cells with chromatin. Immunohistochemical staining was positive for synaptophysin in monotonous cells, melanin (HMB-45), and cytokeratin. Ki-67 index was 30%, suggestive of the malignant nature of the tumor. Thus, a diagnosis of malignant neuroectodermal tumor of infancy was established. Postoperative period was uneventful, and he recovered well in the follow-up period. The child was referred to an oncologist for chemotherapy.
| Discussion|| |
MTNI was first described by Krompecher in 1918 as congenital melanocarcinoma; later, the term melanotic neuroectodermal tumor of infancy was coined by Borello and Gorlin.
- It usually affects infants less than 1 year.
- The tumor is commonly found in the head and neck region, mostly in the maxilla followed by cranium and mandible.
- Occasionally, it is also found in the epididymis, mediastinum, and female reproductive organs.
- Brain parenchymal involvement has also been reported in the cerebellar vermis.
- More than 40 cases of melanotic progonoma have been reported among which 20 cases were reported in the location of temporal or occipital bone, but very few cases have been reported with both temporal and occipital bone involvements.
- Here we report a rare case of a malignant temporo-parieto-occipital tumor. Patients present with a progressive painless bony hard swelling causing skull deformation. It causes compression rather than the infiltration of the surrounding structures. MTNI is a benign tumor but the malignant transformation has been reported in the literature.
- It appears hyperdense and osteolytic on computed tomography and hypointense on both T1W and T2W magnetic resonance imaging. On microscopic examination, a biphasic cell population can be seen to be composed of melanin-containing epithelial-like cells and small round primitive neuroectodermal cells. Immunohistochemical studies help in clinching the diagnosis of MTNI; they are positive for synaptophysin, HMB-45, cytokeratin, and epithelial membrane antigen.
- The melanotic progonoma of the cranial vault is a locally aggressive tumor. Radical surgery with clear margins is the treatment of choice for benign progonomas of cranial vault and holds a favorable long-term outcome. The recurrence rate is 10–15%.
- Cases of malignant MTNI with metastasis have a poor prognosis with a high mortality rate. In this case, there was no metastasis.
- Treatment for these tumors is surgery combined with adjuvant modalities such as chemotherapy alone or together with radiotherapy. Drugs mostly used in chemotherapy are cyclophosphamide, vincristine, doxorubicin, etoposide, and carboplatin. In view of its high rate of recurrence, they require a post-therapeutic regular follow-up.
Giancarlo Nicosia et al. reported a case of giant malignant neuroectodermal tumor of infancy in a 4-year-old boy in the parieto-occipital region with lymph node involvement. The patient was managed with neoadjuvant and adjuvant chemotherapy and radically resective surgery on metastatic lymph nodes and the primary tumor of the skull. The child expired after a few months.
Bellarbi et al. reported a case of benign progonoma in a 7-month-old female child in the right temporo-occipital region managed by wide excision surgery. The child had a good prognosis.
In 1966, Borello and Gorlin reported a case of melanotic neuroectodermal tumor of infancy associated with high urinary excretion of vanilmandelic acid. In 2005, Antunes et al. reported a case of melanotic neuroectodermal tumor of infancy in the skull of a 4-month-old child. In 1981, Cutler et al. published a review of literature and ultrastructural study of melanotic neuroectodermal tumor. In 1985, Carpenter, Jimenez, and Robb published an unusual site of occurrence for a melanotic tumor of infancy, the epididymis. In 1995, George et al. reported a case of progonoma of the skull which secondarily invaded brain. In 2009, Lambropoulos et al. reviewed 2 similar cases of progonoma. In 2002, Barrett et al. concluded that most melanotic neuroectodermal tumors were benign and responded well to total excision. In 2003, Woessmann et al. reported successful chemotherapy in a case of progonoma. In 1993, Kapadia et al. did an immunohistochemical study on these tumors.
| Conclusion|| |
Malignant neuroectodermal tumor of infancy (progonoma) involving temporal, parietal, and occipital bones is an exceedingly rare tumor and should be included in the diagnosis of skull masses of infants. In view of its rapid growth and intracranial extension, the diagnosis must be early and radical extension with clear margins must be achieved after histological confirmation.
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.
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Conflicts of interest
The authors report no conflict of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]