Abstract:Poorly differentiated malignancies affecting the anal canal are uncommon but pose diagnostic difficulties because of the wide range of normal cell types that may occur within a limited anatomical region. The range of lesions that may present as poorly differentiated tumours includes squamous cell carcinoma, adenocarcinoma, small and large cell neuroendocrine carcinoma, neuroendocrine carcinoma expressing epithelial cytokeratins and other patterns of mixed differentiation, undifferentiated carcinoma, malignant … Show more
“…Large cell neuroendocrine carcinoma of the anal canal is a rarity-approximately 20 cases have been reported, none of them in children [34,35]. Large cell neuroendocrine carcinomas of the rectum are also rare and highly malignant neoplasms that typically arise in elderly patients.…”
The first case of large cell neuroendocrine carcinoma arising in an infant is presented. The tumor arose at the anal verge of a 1-year-old girl. The diagnosis of this CD99-positive tumor was supported by expression of epithelial (keratins, EMA, and Ep-CAM) and neuroendocrine (chromogranin A, synaptophysin, and neuron-specific enolase) markers and absence of immunoreactivity for Fli-1. No fusion of EWSR1 with FLI-1 or ERG was detected by polymerase chain reaction. However, the split of the EWSR1 gene was demonstrated by fluorescence in situ hybridization. This case adds to the few epithelial tumors in which an EWSR1 rearrangement was demonstrated. Because the tumor was initially misclassified as an extraskeletal Ewing's sarcoma, the patient was treated according to the Ewing's sarcoma treatment protocol. She remains free of tumor 8 years after initial diagnosis.
“…Large cell neuroendocrine carcinoma of the anal canal is a rarity-approximately 20 cases have been reported, none of them in children [34,35]. Large cell neuroendocrine carcinomas of the rectum are also rare and highly malignant neoplasms that typically arise in elderly patients.…”
The first case of large cell neuroendocrine carcinoma arising in an infant is presented. The tumor arose at the anal verge of a 1-year-old girl. The diagnosis of this CD99-positive tumor was supported by expression of epithelial (keratins, EMA, and Ep-CAM) and neuroendocrine (chromogranin A, synaptophysin, and neuron-specific enolase) markers and absence of immunoreactivity for Fli-1. No fusion of EWSR1 with FLI-1 or ERG was detected by polymerase chain reaction. However, the split of the EWSR1 gene was demonstrated by fluorescence in situ hybridization. This case adds to the few epithelial tumors in which an EWSR1 rearrangement was demonstrated. Because the tumor was initially misclassified as an extraskeletal Ewing's sarcoma, the patient was treated according to the Ewing's sarcoma treatment protocol. She remains free of tumor 8 years after initial diagnosis.
“…This neoplasm has been reported in the esophagus [11,12,13,14,15], stomach [16,17,18,19,20,21], ampullary region [22], large bowel [23,24,25,26,27,28,29,30,31], and anorectal region [32,33]. …”
The systematic application of immunohistochemical techniques to the study of tumors has led to the recognition that neuroendocrine cells occur rather frequently in exocrine neoplasms of the gut. It is now well known that there is a wide spectrum of combinations of exocrine and neuroendocrine components, ranging from adenomas or carcinomas with interspersed neuroendocrine cells at one extreme to classical neuroendocrine tumors with a focal exocrine component at the other. In addition, both exocrine and neuroendocrine components can have different morphological features ranging, for the former, from adenomas to adenocarcinomas with different degrees of differentiation and, for the latter, from well differentiated to poorly differentiated neuroendocrine tumors. However, although this range of combinations of neuroendocrine and exocrine components is frequently observed in routine practice, mixed exocrine-neuroendocrine carcinomas, now renamed as mixed adenoneuroendocrine carcinomas (MANECs), are rare; these are, by definition, neoplasms in which each component represents at least 30% of the lesion. Gastrointestinal MANECs can be stratified in different prognostic categories according to the grade of malignancy of each component. The present paper is an overview of the main clinicopathological, morphological, immunohistochemical and molecular features of this specific rare tumor type.
“…They are very aggressive tumours and most of the patients i.e., about 70% present with lungs and liver metastasis at the time of presentation even though the primary tumour involves mucosa or submucosa only [6]. The overall survival rate is less compared to squamous cell carcinoma [7].…”
A 46-year-old male patient presented with complaint of painful bleeding and lumps in anal region since 3 months. He had undergone haemorrhoidectomy one year back. He didn't have any other co-morbid conditions. There was no history of smoking. Per rectal examination couldn't be done without anaesthesia since he had sphincter spasm. On evaluation under anaesthesia, the patient had a freely mobile, friable growth about 2 cm from the anal verge along posterior and the lateral wall. A biopsy was taken and the histopathological examination revealed small malignant cells with hyperchromatic nuclei and scanty cytoplasm with tumour invading the fibro-collagenous tissue with features of poorly differentiated malignancy [ Colonoscopy was done which showed lesion in the posterior and lateral wall measuring about 4cm and 2cm from anal verge. Rest of the colon appeared normal. CECT abdomen showed circumferential irregular wall thickening about 4cm proximal to anal verge with enlarged left inguinal, mesorectal and left internal iliac lymph node enlargement without perianal fat stranding [Table/ Fig-6a,b]. Chest X Ray showed no evidence pulmonary carcinoma. Bone scan was normal and tumour marker i.e., Carcinoembryonic antigen was not elevated. The patient was negative for HIV, HbsAg and HCV.Prognosis of the condition was explained to the patient along with the morbidity and mortality associated with surgery. After obtaining informed consent, Abdomino Perineal Resection (APR) was done with permanent end colostomy. Post-op he was admitted in ICU Anal canal malignancy is one of the dreadful conditions. Most of the anal canal malignancies are squamous cell carcinomas for which the treatment is well established and the prognosis is usually favourable. Small cell carcinoma of anal canal is a very rare condition and poorly understood, which can present as haemorrhoids in its early stages and has an aggressive course. We present a case of small cell carcinoma of anal canal who underwent Abdomino Perineal Resection (APR) and chemotherapy. He developed liver metastasis during the course of chemotherapy and succumbed to the condition 4 months later.
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