Infantile inflammatory myofibroblastic tumour of the sigmoid colon: a diagnostic dilemma.

An inflammatory myofibroblastic tumour (IMT) is an uncommon neoplasm composed of inflammatory cells and myofibroblasts in a fibrous stroma. They are mostly seen in the lungs and rarely involve the gastrointestinal tract. An 8-month-old infant presented with a history of lower abdominal lump for 2 months. Her CT scan confirmed a large, lobulated mass in the retroperitoneum arising from the pelvis. The mass was found to be arising from the sigmoid colon on laparotomy which was excised. Histopathology showed a cellular tumour composed of spindle cells and inflammatory lymphocytic infiltrate. Immunohistochemistry revealed positive staining for anaplastic lymphoma kinase and smooth muscle actin, confirming the diagnosis of IMT. The patient is doing well at her 6-month follow-up. Ours is the youngest case of sigmoid IMT among the only other series of eight cases reported in the literature indicating its rarity.

"A tumour registry initiative".

Background: Published literature on epidemiological profile of paediatric brain tumours in India is limited. Aim: To present a retrospective analysis of the histological spectrum of 158 paediatric age group central nervous system tumours operated in a single tertiary care hospital in Coastal South India between January 2015 and December 2021. Material and methods: Retrospective analysis of the data regarding frequencies of various primary brain tumours among 158 paediatric patients (<18 years of age). The tumours were categorised according to the revised 4th edition of World Health Organization (WHO) classification of tumours of the Central Nervous system. Results: Paediatric CNS constituted 8.5% of total intracranial tumours (158/1860) operated in the study period. The mean age of the patients was 10.2 years and a definite male predominance was noted (1.54:1) Astrocytomas, glioneuronal tumours, and neuronal tumours constituted the majority (72/158; 45.6%) followed by embryonal tumours (31/158; 19.6%) and craniopharyngiomas(24/158; 15.4%).Of the glial neoplasms majority were pilocytic and other astrocytic tumours(41.6%), followed by mixed neuroglial tumours (19.4%), diffuse high grade astrocytomas (Grade III/IV) (11.1%), diffuse low -grade astrocytomas (Grade II) (9.7%) and ependymomas (13.8%). Our series also included six meningiomas (3.8%), five germ cell tumours (3.16%), four nerve sheath tumours (2.53%), two choroid plexus tumours (1.26%), two pineal parenchymal tumours (1.26%) and one metastasis from a soft tissue sarcoma from the thigh. Supratentorial tumours (58.2%) were more common than posterior fossa (34.6%) and spinal tumours (7.6%) and visual pathway gliomas accounted for 5.6% of all our tumours. Conclusions: Paediatric central nervous system tumours are more common in boys and in the second decade of life. Astrocytomas are the most common paediatric brain tumours followed by medulloblastomas and craniopharyngiomas. Pediatric tumours affect the supratentorial compartment more often than the infratentorial compartment. The profile of paediatric brain tumours in our series is similar to that reported from other Indian centres as well as most western literature.

Mammary Analogue Secretory Carcinoma of Parotid - a Pathological Mystery.

Salivary gland neoplasms account for 3-6% of head and neck tumours. 70-80% of parotid tumours are benign in histopathology. FNAC has an overall accuracy of 95% in diagnosis of parotid neoplasms. However, the remaining 5% still pose a histopathological mystery which may require a surgical excision of the parotid. We report a case of a 42 year-old-man with a history of parotid swelling and a FNAC report which showed a possibility of a low-grade mucoepidermoid carcinoma or a ductal adenocarcinoma. Final histopathological diagnosis after surgical excision revealed a new pathological entity in mammary analogue secretory carcinoma of parotid.

SMARCB1 (INI-1) - Deficient sinonasal carcinoma: Report of two cases.

SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare, poorly differentiated carcinoma defined by complete loss of tumor suppressor gene SMARCB1 (INI-1) within the neoplastic cell nuclei demonstrated by the immunohistochemical stain. SMARCB1 (INI-1) gene inactivation has been implicated in the pathogenesis of a diverse group of malignant neoplasms that tend to share "rhabdoid" morphology. SMARCB1 (INI-1)-deficient sinonasal carcinoma was first reported by Agaimy et al. in 2014. These tumors are often basaloid with focal rhabdoid differentiation, prominent necrosis, increased mitotic activity, and aggressive behavior. Other than being INI-1 and NUT negative, they are positive for pancytokeratin and express variable immunoreactivity for squamous markers like p63 and neuroendocrine markers like synaptophysin. Most patients present with locally advanced disease and hence a combination of chemotherapy, radiotherapy, and surgery is usually recommended.

Leukaemic infiltration of the optic nerve head: a rare site of initial relapse.

A 24-year-old male patient with acute lymphoblastic leukaemia (ALL), in complete remission, presented with the symptoms of gradual onset painless diminution of vision in the right eye (OD) of 2-month duration. On examination, best-corrected visual acuity in OD was finger-counting at 1 m and near vision was less than N36 Anterior segment examination was normal, except for the presence of relative afferent pupillary defect in OD. Fundus examination showed optic disc oedema, peripapillary and vitreous haemorrhage, dilated and tortuous veins over the disc and presence of subretinal infiltrates and subretinal fluid around the optic disc. Clinical picture was suggestive of leukaemic infiltration of the optic nerve head. Cytological analysis of the cerebrospinal fluid did not show any abnormal cells or blasts .Vitreous biopsy from OD was suggestive of leukaemic infiltration. After radiotherapy, the leukaemic infiltrates regressed and visual acuity improved to 6/6, N6 in OD.

Metastatic renal cell carcinoma of the buccal mucosa masquerading as a salivary gland neoplasm.

Metastasis to the oral cavity is a rare occurrence with renal cell carcinoma (RCC) being the third most common tumor to metastasize to this location. Buccal mucosa is rarely involved and in the absence of a known primary, such lesions pose a diagnostic challenge to the pathologist. The histomorphological features may mimic a primary salivary gland neoplasm adding to the dilemma. We present one such case of metastatic RCC of the buccal mucosa.

Esthesioneuroblastomas: Reservations and Recommendations.

Neuroectodermal tumour has a wide range of biological activity that ranges from an indolent course to local recurrence and rapid widespread metastasis. We describe, herewith, 2 patients with Esthesioneuroblastomas (ENB) who had varied atypical clinical presentation. The first case presented with Intracranial Pressure (ICP) headache and acute visual deterioration with radiology revealing an extra axial lesion with extension into the nasal cavity while the second case presented with nasal congestion and progressive headache of long duration. We review the unusual characteristics that may uncommonly occur in ENBs and elaborate regarding which of these must be considered when evaluating patients with this malignancy.

Uterine lipoleiomyoma: A case report of a rare entity.

Lipomatous tumors of the uterus are rare neoplasms which can be divided into three broad groups - pure, mixed, and the exceedingly rare malignant liposarcoma. Lipoleiomyoma is a rare benign variant of leiomyoma with an incidence ranging between 0.03% and 0.2%. These tumors are usually seen in obese postmenopausal women and are usually asymptomatic but may also present with typical leiomyoma symptoms. The most common site of occurrence is the uterine corpus. Imaging plays an important role with magnetic resonance imaging being the modality of choice as it delineates the fat component better. The pathogenesis of this lesion is poorly understood. Histology shows a characteristic pattern with an encapsulated lesion with an admixture of smooth muscle cells, lobules of adipocytes and fibrous tissue. Prognosis is excellent. We report a case of lipoleiomyoma in an elderly, obese postmenopausal woman, who presented with abdominal discomfort and discuss the important differential diagnosis.

Broad Ligament Perivascular Epithelioid Cell Tumor (PEComa) of Uncertain Malignant Potential.

PEComas are uncommon mesenchymal tumors often involving the pelvic organs. They have an unpredictable behavior. Accurate diagnosis and long-term follow-up is therefore essential in these patients. We report this case of PEComa of uncertain malignant potential in an unusual location with excellent prognosis.

Primary Small Cell Carcinoma of The Esophagus - An Eight Year Retrospective Study.

INTRODUCTION: Primary small cell carcinoma of the esophagus is a rare and aggressive tumor. Patients present with metastatic disease and have a poor clinical outcome. The objective of the study was to correlate clinical and histopathological features of primary small cell carcinoma of the esophagus diagnosed and treated at our hospital. MATERIALS AND METHODS: A retrospective study of 11 patients diagnosed with primary small cell carcinoma of the esophagus in Kasturba Hospital, Manipal between 2006 and 2014 was done. The histopathological and immunohistochemical features were correlated with clinical and endoscopic findings. RESULTS: Eleven patients were diagnosed to have small cell carcinoma of esophagus with a male preponderance. Common presenting symptoms were dysphagia and weight loss. Majority of the patients showed mid esophageal ulceroproliferative growth. Biopsy findings were consistent with the characteristic morphology of small cell carcinoma and demonstrated immunoreactivity to neuroendocrine markers. In addition, few cases also showed adjacent squamous dysplasia/carcinoma. Most of the patients presented with metastatic disease, liver being the most common site. These patients were treated by chemotherapy and radiotherapy. CONCLUSION: Esophageal small cell carcinomas are aggressive tumors with high rates of distant metastasis. Presence of squamous dysplasia /squamous cell carcinoma in the adjacent mucosa supports the hypothesis that this neoplasm arise from pleuripotent stem cells. Presence of the latter is also useful to rule out spread from lung primary.

Extradural Spinal Metastasis of Adenoid Cystic Carcinoma (ACC): A Case Report.

Adenoid cystic carcinoma (ACC) is a rare malignant tumour of the major salivary glands. It accounts for 10-15% of all salivary gland tumours and 1% of all head and neck tumours. Surgical resection followed by radiation is the choice of treatment for ACC. However, late loco-regional recurrence and metastasis is often seen emphasizing the importance of long-term follow-up. We report an unusual case of extradural metastasis of ACC in the dorsal spine. The primary submandibular gland tumour was resected 11 y back. A recurrence had been detected two years prior to the occurrence of spinal metastasis. Surgical decompression was done which was followed by palliative radiotherapy. Patient is symptomatically better, ambulant and on regular follow-up.

Metastatic rhabdoid meningioma of the parotid - Mimicking primary salivary gland neoplasm.

INTRODUCTION: Tumors involving the parotid are predominantly primary with metastatic lesions forming a miniscule population. Meningioma metastasizing to the parotid is extremely rare and hence can often be mistaken for the more common primary salivary gland neoplasms. PRESENTATION OF CASE: A 59-year-old male presented with a swelling in the left parotid region. Fine needle aspiration cytology was suggestive of myoepithelial predominant pleomorphic adenoma. A superficial parotidectomy performed revealed a tumor composed of rhabdoid cells with abundant finely granular eosinophilic cytoplasm raising a possibility of myoepithelioma. Immunohistochemistry for myoepithelial markers was negative. A critical review elicited a history of surgical excision of a recurrent rhabdoid meningioma twice. A possibility of metastasis was considered and a second panel of immunomarkers demonstrated vimentin and epithelial membrane antigen positivity. Neuroimaging studies demonstrated a space occupying lesion in the frontal lobe suggestive of a recurrent/residual tumor. In view of the history, neuroradiology, histopathology and immunohistochemistry, a final diagnosis of metastatic rhabdoid meningioma to the parotid was rendered. DISCUSSION: Morphologically, metastatic rhabdoid meningioma may mimic a primary or metastatic carcinoma, melanoma and sarcoma. Accurate diagnosis can be made by careful clinical evaluation and histopathological examination of the tumor. These tumors are composed of rhabdomyoblast like cells with abundant eosinophilic cytoplasm. The present case demonstrated characteristic histopathological features confirmed by immunohistochemistry. CONCLUSION: Rhabdoid meningioma is an aggressive tumor with a high propensity to recur and metastasize. The present case highlights the importance of clinical, radiological and histopathological correlation to accurately diagnose these rare entities.

Hepatic Epithelioid Hemangioendothelioma in an Eight Year old - A Case Report.

Hepatic epithelioid haemangio-endothelioma (HEHE) is a rare vascular tumour of endothelial origin. The etiology of this tumour is unknown and has a variable clinical outcome. It usually affects adults and is extremely rare in children. Histologically, HEHE is characterized by epithelioid to dendritic tumour cells with intracytoplasmic lumina containing RBCs and a myxoid to sclerotic stroma. Being a rare entity, awareness and a high degree of suspicion is required to correctly identify this tumour. We report a case of hepatic hemangioendothelioma in an 8-year-old child.

Spontaneous Resolution of Emphysematous Gastritis with Vaso-occlusive Disease-A Case Report.

Emphysematous gastritis secondary to vaso-occlusive disease is a surgical emergency. It is a rare yet severe form of widespread phlegmonous gastritis. It is caused by corrosive ingestion, alcohol abuse, and on rare occasions, infections. The clinical presentation is diagnostic with supportive information from contrast-enhanced computed tomography (CECT) of the abdomen and gastroduodenoscopy. Here, we describe a case of emphysematous gastritis with spontaneous vaso-occlusive disease that was successfully managed without surgery.

Case of benign phyllodes tumour associated with hypoglycemia.

Benign phyllodes tumour is a rare non-cancerous growth of the breast characterized by a solitary unilateral tumour in one breast, or rarely multifocal in one or both breasts. It is diagnosed on the basis of physical examination, imaging studies, and fine-needle aspiration cytology. In this report, we present a case of benign phyllodes tumour with an unusual presentation of recurrent attacks of hypoglycemia, which can be attributed to secretion of insulin-like growth factor II from the tumour.

Extragenital aggressive angiomyxoma of the axilla and the chest wall.

Aggressive angiomyxomas are uncommon mesenchymal tumours which most often arise in the perineal and the pelvic regions in women. Extragenital aggressive angiomyxonas are extremely rare. We are reporting a young male with an aggressive angiomyxoma which involved the axillary region and extended into the anterior chest wall, which demonstrated its characteristic histomorphological features. The diagnosis was confirmed by immunohistochemistry. A careful histological examination, along with immunohistochemistry, aids in diagnosing this lesion and differentiating it from tumours which have similar histologies.

Conjunctival myxoma-a case report.

Ocular myxomas are rare neoplasms. We report a case of conjunctival myxoma in a 33-year-old male. Clinically, it was diagnosed as a conjunctival cyst. Histopathological findings revealed spindle, and fusiform cells in loose myxoid stroma with cystic change. There were no systemic abnormalities detected.

Sylvian cistern arachnoid cyst--a rare cause of precocious puberty.

Precocious puberty still remains an elusive diagnosis in the majority of patients. Infrequently, lesions of the central nervous system are associated with sexual precocity. Depending on their location, these cysts may affect many systems, however, there is little information concerning their involvement in endocrinological disorders. We report a case of a sylvian cistern arachnoid cyst presenting with precocious puberty in a 3-year-old girl. The child recovered following a cystoperitoneal shunt. The mass effect of the arachnoid cyst upon the hypothalamus was, at least in part, responsible for the development of precocious puberty. To the best of our knowledge, this is the 1st case of a sylvian cistern arachnoid cyst presenting with precocious puberty. The role of surgical decompression of the cyst is also discussed.

Pure red cell aplasia following thymothymectomy: a case report.

Thymoma, a rare epithelial neoplasm, is the most common anterior-superior mediastinal tumour. Thymoma can occur sporadically or in association with other conditions, such as myasthenia gravis, pure red cell aplasia (PRCA), and hypogammaglobulinemia. Only 5% of thymoma cases develop PRCA; however, 10-50% of patients presenting with PRCA have an associated spindle cell type thymoma. Thymoma complicated by PRCA is associated with a poor outcome. We report the case of a 38-year-old female who presented with chest pain, and was diagnosed with an anterior mediastinal mass. A thymectomy was performed, and histopathological examination revealed mixed thymoma; two months later, the patient developed PRCA. The present case reinforces the need for clinicians to be vigilant with thymoma patients, even following thymectomy.