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Melanotic neuroectodermal tumour of infancy (MNTI) is a locally aggressive neoplasm of neural crest origin. It is primarily a paediatric tumour, and 95% of the cases occur in children below 1 year. The tumour mainly affects the head and neck region. It shows a predilection for the craniofacial sites and the most common site affected is anterior maxilla. Microscopically, it is characterized by a biphasic population of neuroblastic cells and pigmented epithelial cells. Although generally considered as a benign tumour, it can invade the adjacent muscle and bone, causing destruction of the involved site. The rapidity in growth and the aggressive clinical behaviour of the tumour can be deceptive and hence lack of familiarity with the clinical characteristics of the tumour may often lead to an erroneous diagnosis of malignancy. The treatment of choice for MNTI is excision, and it is usually curative. Extensive surgery in a child may interfere with the normal growth and development of the facial structures and reconstruction can be very challenging in infants. Hence, early diagnosis is critical for the effective management. Clinical findings, histopathological features, and differential diagnosis of a classic case of melanotic neuroectodermal tumour of infancy are discussed. [ABSTRACT FROM AUTHOR]

Medulloepithelioma is a type of rare primitive neuroectodermal tumour. Most medulloepitheliomas are intraocular and they have been most frequently reported in horses and dogs. A single feline case has been reported but the teratoid form has not been previously reported in cats. Two cats presented with rapidly expanding intraocular masses and ophthalmic examination revealed vascularized uveal tumours extending into the anterior chamber and vitreous chamber. Following enucleation, histopathological examination of each case revealed a focally extensive infiltrative neoplasm that replaced the uveal tract, with retinal detachment and scleral vascular invasion. Rosettes, medullary tubes and heterotopic tissue were present. During follow-up periods of 3.4 and 8.8 years, no evidence of orbital recurrence or metastasis was found in either cat. To the best of our knowledge, these are the first case reports of teratoid medulloepithelioma in cats. Although the risk of metastasis cannot be excluded, as in other species, these findings support enucleation as a curative intervention. Malignant teratoid medulloepithelioma, uvea, cat, case 2. Highly vascularized iridal mass extending into the anterior chamber of the left eye with resultant dyscoria. [Display omitted] [ABSTRACT FROM AUTHOR]

Primitive neuroectodermal tumour is a poorly differentiated small round cell neoplasm that primarily affects children and is very rarely seen in adults. Peripheral primitive neuroectodermal tumours are rare compared to the central type and resemble soft tissue sarcoma. Primitive neuroectodermal tumours involving the subcutaneous tissue are rare and only a few cases involving the subcutaneous tissue of the anterior abdominal wall have been reported. However, no cases involving the subcutaneous tissue of the shoulder region have been reported. We report the case of a peripheral primitive neuroectodermal tumour arising from subcutaneous tissue of the right shoulder in a young adult.

Melanotic neuroectodermal tumours of infancy (MNTI) are particularly rare and although predominantly benign, are infiltrative and locally aggressive. Presenting in the first year of life, prompt diagnosis and effective management are critical in minimizing morbidity and the risk of recurrence. A retrospective review of 11 MNTI managed at Great Ormond Street Hospital (GOSH) from 2000 to 2017 was undertaken. Eight tumours presented in the maxilla, two in the skull and one in the mandible. The primary modality of treatment was surgery in 10 cases with one patient receiving neoadjuvant chemotherapy. In spite of microscopically incomplete resection in seven cases, only three recurred. Overall, there was a local recurrence rate of 27% with no distant metastases noted. Disease-free survival was 100% with a follow-up ranging from 0.75 to 17 years (median 5 years). Taking our results in conjunction with the available literature, there is a role for conservative initial surgery of MNTI and this should be coupled with delayed reconstruction and intensive short-term follow-up. We propose an adapted treatment algorithm that aims to balance the risk of recurrence and malignant change with surgical morbidity in an infant population. [ABSTRACT FROM AUTHOR]

Ewing’s sarcoma is an aggressive tumour of bone commonly affecting individuals in 10-20 years of age group. Older age and metastatic disease has an overall poor outcome. We are reporting a case of a 37-year-old lady with Ewing’s sarcoma who was initially diagnosed with localised disease involving C5-7 vertebral bodies. She received conventional treatment. She relapsed three years later with metastatic disease and was treated with salvage treatment followed by high dose chemotherapy and autologous stem cell transplant. She had a second relapse with lung metastasis after 28 months. She was treated with gemcitabine and docetaxel and she achieved complete remission again. She is on maintenance chemotherapy with cyclophosphamide and etoposide and continues to be in remission on maintenance treatment.

Soft tissue sarcomas are rare mesenchymal tumours. Leiomyosarcoma is a rare malignant tumour of smooth muscle origin that generally arises from soft tissues and uterine tissue. On occasions, they may arise from smooth muscle of the vessel walls, more commonly from the veins. Renal leiomyosarcomas frequently originates from the smooth muscles of renal capsule, renal pelvis or renal vessels. Correct diagnosis and appropriate management is very essential in such cases. We highlight the possibility of malignant soft tissue sarcoma like leiomyosarcoma in the kidney. We emphasize on the suspicion of rare possibility and clinicopathological correlation is required to identify such cases, which has pronounced prognostic implications as whether to do surgical resection or biopsy or treat such patient with chemotherapy or radiotherapy vary with diagnosis.

Melanotic neuroectodermal tumour of infancy (MNTI) is a rare pigmented neoplasm of neural crest origin. It usually presents in the first year of life in the maxilla as a fast growing lesion. We describe the case of a 3-month-old boy who presented with an enlarging swelling of left maxillary alveolus. He was treated with combined surgical and chemotherapy modalities. MNTI is complicated by high recurrence rate, local invasion and malignancy has been reported. This report describes the diagnosis, treatment and follow-up of recurrent MNTI. [ABSTRACT FROM AUTHOR]

Primitive neuroectodermal tumour (PNET) of kidney is a rare cancer typical of young adults with few cases described in the literature. We report a case of renal PNET in a 31-year-old man who presented to our department with a computed tomographic (CT)-scan revealing a large renal mass of 20 cm, massive thrombosis of the inferior vena cava (IVC). The patient underwent radical nephrectomy with contextual retroperitoneal lymphadenectomy and resection of IVC needing Dacron prosthesis substitution. Definitive histopathological examination showed PNET of kidney infiltrating ipsilateral adrenal gland, massive cava thrombosis with infiltration of vena cava wall and one lymph nodal metastasis. Postoperative PET-scan showed metastatic lesions in bilateral adrenal glands and pancreas. The patient received chemotherapy, and currently, he is in follow-up after 26 months from first diagnosis without any sign of recurrence of disease. Kidney PNET usually is associated with poor prognosis, so, it needs an early identification and differentiation from other similar small cells tumours in order to obtain a good response to the treatments. [ABSTRACT FROM AUTHOR]

Ewing's sarcoma is an aggressive tumour of bone commonly affecting individuals in 10-20 years of age group. Older age and metastatic disease has an overall poor outcome. We are reporting a case of a 37-year-old lady with Ewing's sarcoma who was initially diagnosed with localised disease involving C5-7 vertebral bodies. She received conventional treatment. She relapsed three years later with metastatic disease and was treated with salvage treatment followed by high dose chemotherapy and autologous stem cell transplant. She had a second relapse with lung metastasis after 28 months. She was treated with gemcitabine and docetaxel and she achieved complete remission again. She is on maintenance chemotherapy with cyclophosphamide and etoposide and continues to be in remission on maintenance treatment. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: We report a clinical case and present a brief review of the literature of peripheral primitive neuroectodermal tumour (PNET) as a rare disease. We discuss the difficult clinical and pathological diagnosis and the multidisciplinary approach to treatment of PNET. We debate radiosensitivity of extracranial recurrent retroperitoneal PNET. Methods and materials: External beam radiation therapy was applied for a non-resectable local recurrence of retroperitoneal PNET in a 74-year-old woman. There were no distant metastases and our patient has refused chemotherapy. Results: Local tumour control (LTC) was achieved after administration of a total dose of 60Gy in 30 fractions by external beam 60 Cobalt radiotherapy. Conclusions: PNET is an aggressive malignant tumour infiltrating lymphatics and metastasizing haematogenously. It requires a multimodality treatment. Late local recurrence of extracranial retroperitoneal PNET has shown high radiosensitivity, so local tumour irradiation could be a radical treatment even in non-resectable cases. [Copyright &y& Elsevier]

The radiological features of 10 cases of primitive neuroectodermal tumour (primary cerebral neuroblastoma) are presented. The angiographic and CT appearances were similar to those previously described in the literature. However, not previously documented was evidence on plain skull radiographs and CT scans of thinning and expansion of the overlying vault in 6 of the 10 cases. [ABSTRACT FROM AUTHOR]

We present three unusual cases of atypical scrotal lesions in children. The first was a firm left scrotal mass with the testis indistinguishable. The second with apparently a large hydrocoele, which was a cyst, and the third with multiple nodular lesions, pushing the left testis into the right hemiscrotum. These turned out to be a pigmented neuroectodermal tumour, a lymphatic malformation and neurofibromas respectively. Paediatric surgeons should be aware of such surgical surprises.

Ganglioneuroblastomas (GNBs) are embryonic neoplasms, whose behaviour are not well established; 80% of cases occur in the first decade, while only two cases in the adulthood had been reported. This 60-year-old female presented with a 2-month history of headache, vertigo, amnesia. A right brachio-crural hemiparesis, right homonymous hemianopsia and sensorial dysphasia was evident. A CT scan revealed a left occipital lesion. MRI scan was not performed because the patient had an anal sphincter stimulator. Three years before thyroidectomy for a follicular carcinoma was performed. A total body CT scan was negative. A left occipital craniotomy was carried out and a solid mass was totally excised. A diagnosis of GNB was made from histopathological examination and immunohistochemistry. Post-operatively the patient recovered from the hemiparesis while the visual disturbances persisted. She underwent fractioned radiotherapy (60 Gy) and chemotherapy with Temozolomide. She remained disease free 18 months after diagnosis. A CT scan showed no evidence of recurrence. Recent observations suggest that in spite of an embryonal appearance, these tumours are circumscribed and have a better prognosis than malignant gliomas. [ABSTRACT FROM AUTHOR]