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Abstract Oral squamous cell cancer (OSCC) is a common malignancy attributed to use of chewing smokeless tobacco and smoking. Most of the targeted strategies are based on EGFR expression and mutation; however, none of them has shown significant improvement in survival and response rates. We carried out this study to evaluate mutational profile of tobacco associated oral carcinoma with special emphasis on EGFR and its downstream events. Patients and methods A total of 46 histologically proven cases were recruited between January 2017 and January 2019. Apart from detailed clinical and histological studies, the paraffin-embedded tissue was submitted for expression of 50 genes using Next Generation Sequencing using Ion Ampliseq Cancer Hotspot Panel v2. Results The mean age of patients was 47.8 ± 10.9 years. Majority had tumors on buccal mucosa (24) and tongue (13). Nineteen of these tumors were larger than 4 cm, and 5 had adjacent site involvement. Thirty one were node positive. TP53 mutations were commonest seen in 19 followed by CDKN2A in 11, HRAS in 8, PIK3CA in 3, SMARCB1 in 2, and KIT, EGFR, BRAF, STK11, ABL1, RB1 in one case each. Concomitant TP53 mutation was identified with other mutations like CDKN2A, HRAS, KIT, PIK3CA, STK11, SMARCB1, ABL1, and RB1 making tobacco-associated OSCC as a heterogeneous mutational tumor with multiple events. A patient with TP53 mutations has poor disease free survival (47.4 vs 63% p = 0.17); however, this was not statistically significant. Conclusion The study shows a heterogeneous mutational spectrum with multiple mutational events in OSCC. The low EGFR mutation rates and higher mutations in EGFR downstream pathways including that in TP53 and HRAS suggest that anti EGFR strategies may not succeed in these tumors and newer agents and therapeutic combinations need to be tried.

Background: Leiomyosarcoma (LMS), accounting for 7-10% of all soft tissue tumors, is derived from smooth muscles and arises most commonly from uterus, retroperitoneum, extremities, but can potentially involve any site of the body. Through this case series of 12 extra-uterine LMSs, we highlight the wide variety of clinical presentations of this tumor. Methods: Retrospective analysis of clinical details, histopathological examination (HPE) and immunohistochemistry (IHC) of LMSs diagnosed in the extra uterine sites from 2012-2016 in our tertiary care institute. Result: The mean age of presentation was 55.8 years, with male: female ratio 2:1. The site distribution was: stomach (3), non visceral soft tissue-thigh (2), breast (2), cutaneous (2), ileum(1), esophagus(1), and larynx (1). Conclusion: The variable presentations of LMS at extra-uterine sites, makes it a challenging diagnosis for the unsuspecting clinicians and histopathologists. Thus, any soft tissue tumor in similar clinical scenarios may turn out to be LMS. DOI:10.21276/APALM.1588

Background Transformation and progression of lymphoma after treatment is well known; however, since the advent of chemotherapy and radiotherapy, progression in untreated lymphoma is seldom seen. We present a case which was misdiagnosed and treated as abdominal tuberculosis later presented with progression and involvement of oral cavity. Case presentation A 41-year-old male who presented with urinary symptoms and abdominal pain was diagnosed as abdominal tuberculosis and treated. Two years later, he presented with B symptoms and oral cavity lesion that was diagnosed as diffuse large B cell lymphoma. The patient was treated with R-CHOP chemotherapy with complete regression of the lesion. Conclusion Involvement of extranodal sites in predominantly nodal disease does occur; however, involvement of oral cavity is rare. Though primary extranodal lymphoma is reported to occur in oral cavity and oropharynx, natural progression in untreated disease is seldom documented.

Melanotic neuroectodermal tumour of infancy is a rare, pigmented neoplasm generally arising in infants during the first year of life. The cytological features are rarely described in the literature. This case due to its rarity and unusual site emphasising the cytopathological features and the necessity of histology for differentiating it from other round cell tumours has been presented. Diagn. Cytopathol. 2016. © 2016 Wiley Periodicals, Inc.

Diaphragmatic injuries can occur with both blunt and penetrating trauma which can be associated with herniation of abdominal viscera into the thoracic cavity. Diaphragmatic injuries can occur with blunt trauma chest in 1-7 % of patients. Retrospectively for last 3 years all cases blunt trauma chest admitted to surgery were reviewed and a study of cases of diaphragmatic rupture was done. We analysed 496 patients of blunt trauma chest retrospectively for period of three years. Nine patients have diaphragmatic injuries, all were males, six presented acutely three were chronic. In six patients laparotomy was done, four subcostal and two midline incisions were preferred. In chronic cases thoracotomy was done. Left sided injury predominates and rib fractures are most common associated finding. Diagnosis in majority of cases is made by Computerised tomography scan. Subcostal incision may be used in patients with isolated diaphragmatic injury in acute presentation while thoracotomy is preferred in late cases. Most common morbidity is pulmonary complications.

Mucormycosis is caused by saprophtytic fungi which cause acute invasive zygomycosis. It clinically presents with necrosis, and on histopathology, acute and chronic infiltrates are seen. It rarely infects a healthy host, but is devastating in an immunocompromised host. We studied five cases with post-operative abdominal wall mucormycosis, three females and two males. Three patients were post-operative while the other two had mucormycosis following trauma and infection was found in sutured wound. All were initially diagnosed as cases of necrotizing fasciitis. Two patients eventually survived after intensive medical therapy and extensive debridements.

This is a case report of 45-year-old woman with recurrent phyllodes tumour. Although these tumours are not very rare and one finds them occasionally in day-to-day practice, we report here a case of recurrent phyllodes tumour that was treated by a simple mastectomy 1 year back, and it recurred very fast and attained enormous dimensions without any local ulceration.