Detection of clinically-relevant EGFR variations in de novo small cell lung carcinoma by droplet digital PCR.

Targeted therapy that utilizes tyrosine kinase inhibitors (TKIs), specific to epidermal growth factor receptors (EGFR) has changed the landscape of treatment of non-small cell lung cancer (NSCLC). The success or failure of this approach depends on presence of certain variations in the tyrosine kinase domain of EGFR gene. Generally, patients diagnosed with Small cell lung cancer (SCLC) are considered ineligible for TKI therapy owing to the absence of EGFR variations. . However, there is evidence of these variations being detected in SCLCs, both in de-novo and in transformed SCLCs (TKI-treated adenocarcinomas). Despite the presence of clinically-relevant EGFR variations in SCLCs, the response to TKIs has been inconsistent.  Liquid biopsy is a well-established approach in lung cancer management with proven diagnostic, prognostic and predictive applications. It relies on detection of circulating tumor-derived nucleic acids present in plasma of the patient. In this study, a liquid biopsy approach was utilized to screen 118 consecutive lung cancer patients for four clinically-relevant variations in EGFR gene, which included three activating/sensitizing variations (Ex18 G719S, Ex19del E746-A750 and Ex21 L858R) and one acquired/resistance (Ex20 T790M, de novo) variation by droplet digital PCR, the most advanced third generation PCR technique. As expected, clinically-relevant EGFR variations were found in majority of the non-small cell lung cancer cases. However, among the handful of small cell lung cancer samples screened, sensitizing variations (Ex18 G719S and Ex21 L858R) were seen in almost all of them. Interestingly, Ex20 T790M variation was not detected in any of the cases screened.  The results of our study indicate that EGFR variations are present in SCLCs and highly sensitive liquid biopsy techniques like ddPCR can be effectively utilized for this purpose of screening EGFR variations in such samples.

Massive lateral neck mass: aberrant ectopic thyroid malignancy.

Lateral aberrant ectopic thyroid is very rare, comprising only 1%-3% of all the ectopic thyroid tissue. Clinically, these lesions are mistaken for lymph node swelling or metastatic tumour. Primary carcinoma in lateral aberrant ectopic thyroid with normal active native thyroid is very uncommon. We report a case of papillary carcinoma in lateral aberrant ectopic thyroid tissue, with a completely normal native thyroid gland in a 53-year-old man, who presented with a massive swelling in the lateral aspect of the neck clinically and radiologically diagnosed as a malignant soft tissue tumour with differential diagnosis of malignant lymphoma. Fine needle aspiration cytology revealed metastatic papillary carcinoma. In toto excision of the soft tissue mass along with subtotal thyroidectomy was performed. Histology of the mass revealed papillary carcinoma of lateral aberrant ectopic thyroid, while the thyroid gland did not show evidence of malignancy. The postsurgical period was uneventful, and the patient underwent radioiodine ablation.

Mucinous Cystic Neoplasm of the Liver and Extrahepatic Biliary Tract with Ascending Cholangitis: a Case Report and Review of the Literature.

Mucinous cystic neoplasms of the liver involving the extrahepatic biliary tract is a rare slow-growing benign neoplasm of biliary system that has an early clinical presentation with obstructive jaundice. These tumors have a high risk of malignant transformation, which is difficult to diagnose preoperatively by radiology or endoscopy. We present a 31-year-old female patient who presented with complaints of pain abdomen, vomiting, fever, and obstructive jaundice. Ultrasound abdomen showed features suggestive of cholangitic abscess. Computed tomography abdomen showed features suggestive of cholangitic abscess and abrupt termination of the proximal CBD secondary to the stricture. A left hemi-hepatectomy was performed which showed a multiloculated cystic liver lesion with the involvement of extrahepatic duct, cystic duct, and proximal common bile duct. Histopathology showed cyst was lined by mucin secreting columnar epithelium without nuclear atypia, the wall the cysts showed ovarian-like stroma, and the diagnosis of mucinous cystic neoplasms of the liver and extrahepatic biliary tract with ascending cholangitis was made. Regular follow-up by clinical and radiological examination at 6 months did not reveal any recurrence.

Endometriosis: A Clinicopathological Study in a Tertiary Care Hospital.

Background Endometriosis (EM) is an estrogen-dependent disease characterized by the presence of endometrial gland and stroma outside the uterus. It is commonly seen in the reproductive age group and is a leading cause of infertility. Patients present with chronic pelvic pain, menstrual abnormalities, dyspareunia, or mass per abdomen. Surgical excision is the treatment of choice with postoperative medications and progesterone agents. Aims and Objectives This study aims at determining the distribution of EM in terms of age, parity, symptoms, site, morphological features. We also analyzed the management of EM in these cases. Methodology This is a retrospective study done in a tertiary care hospital in Mangalore, India. The case records of 77 histopathologically confirmed cases of EM during the 7 years between June 2012 and May 2019 were studied. Demographic profiles, parity, presenting complaints, site of the lesion, morphological features, treatment given, follow-up, and recurrence were noted and analyzed. Results Of the 77 patients with EM, the most common age group was the fourth decade (40%). The majority (31, 40.25%) of the patients in this study were nulliparous. Chronic pelvic pain was the most common symptom. The most frequent site was ovary. Conclusion The most frequent site of EM is ovary, leading to infertility. With the advent of laparoscopy, early diagnosis and excision have been feasible. The histopathological examination should be done for confirmation. Awareness of this disease among health care professionals is necessary whenever a woman in reproductive age presents with chronic pelvic pain and infertility.

Parotid Gland Tumors: 2-Year Prospective Clinicopathological Study.

CONTEXT: Parotid gland tumors account for 80% of all salivary gland neoplasms. Most parotid masses are operated on before obtaining the final histological diagnosis, which complicates the management of the facial nerve damage during parotid surgery. AIMS: The aim of this study is to analyze the age- and gender-wise incidence of parotid gland tumors, the incidence of various types of tumors, to assess their clinical modes of presentation, the efficacy of treatment, and to evaluate the complications ensuing therein, because of intervention. SETTINGS AND DESIGN: The present study was conducted in the Department of Oral and Maxillofacial Surgery, A. B. Shetty Memorial Institute of Dental Sciences and Justice K. S. Hegde Charitable Hospital, Nitte University, Mangalore. SUBJECTS AND METHODS: A clinicopathological study of parotid gland tumors was undertaken in a tertiary care hospital. Patients with parotid swelling were clinically evaluated, followed by fine-needle aspiration cytology (FNAC). Surgery was planned and performed based on the tumor location and FNAC report. Patients were followed up for postoperative complications. RESULTS: The study comprised 59 patients with parotid gland tumors. The age range of the patient affected was between 18 and 75 years. Benign tumors are more common than malignant tumor in the ratio of 3.5:1. Slow progressively parotid swelling was the common presenting complaint. Superficial parotidectomy was the most common surgery (69.49%) performed. The most common postoperative complication encountered was transient facial palsy (22.03%). Benign tumors were more common (77.97%). The most common benign tumor was pleomorphic adenoma, and malignant tumor was mucoepidermoid carcinoma. CONCLUSIONS: The incidence of parotid salivary gland tumors is increasing in recent years. Parotidectomy is safe procedure for treating parotid tumors. Transient facial palsy is the most common postoperative complication, which is reduced in superficial parotidectomy.

A Case of an Indolent CD8-Positive Lymphoid Proliferation of the Ear.

A lady presented with indolent slowly spreading erythematous nodule on the left external ear which on histopathology showed dense monomorphic lymphoid cells in the dermis. No epidermotropism or angioinvasion was seen. Immunohistochemistry showed that the infiltrating lymphoid cells were CD8+ but CD4-. Majority of the cases of cutaneous T-cell lymphomas have a CD4+, CD8- T-cell expression. Few cases have been reported with similar CD8-positive lymphoid proliferation with a curious ear tropism.

An Extremely Rare Case of Small Cell Carcinoma in Submandibular Salivary Gland.

Small Cell Carcinoma (SCC) of the salivary gland is a rare and aggressive tumour accounting for about less than 1% of the salivary gland tumours. Submandibular gland involvement is extremely rare. These tumours frequently present with metastasis to lymph node and distant organs. We report a case of a 30-year-old male patient who presented with a swelling on the left side of the face below the jaw and the floor of the mouth. The tumour was excised followed by histopathological evaluation and diagnosed as SCC of left submandibular gland. Immunohistochemistry was positive for pan cytokeratin, synaptophysin, chromogranin, Ki-67, CK5/6, and negative for Thyroid Transcription Factor (TTF-1) which confirmed that the tumour was SCC of submandibular salivary gland.

Basaloid Squamous Cell Carcinoma of Scalp From A Pre-Existing Cylindroma Metastasising To Brain: A Rare Case Report.

Squamous cell carcinoma (SCC) is the second most common non-melanoma skin cancer and accounts for 90% of head and neck malignancies. Intracranial metastases of SCC are extremely rare. We are reporting a case of 55-year-old female with history of recurrent swelling over right side of forehead which was previously reported as cylindroma. CT scan of head revealed irregular lytic areas in right frontal bone suggestive of erosion. There were multiple small, rim enhancing lesions in bilateral parietal regions. Clinically it was diagnosed as malignant adnexal tumour. Wide excision of the lesion revealed features of invasive basaloid squamous cell carcinoma, probably a malignant transformation of the pre-existing cylindroma.

Primary bilateral fallopian tube carcinoma the report of a single case with review of the literature.

Primary fallopian tube carcinoma is an extremely uncommon neoplasm of the female genital tract. Primary Fallopian Tube Carcinoma (PFTC) has a clinical and a histological resemblance to Epithelial Ovarian Cancer (EOC). We are reporting a case of PFTC in a 55 year old tubectomized, postmenopausal woman with the non-specific complaints of a watery vaginal discharge and lower abdominal pain. The clinical and radiological findings suggested a bilateral tubo-ovarian abscess. On laprotomy, a bilateral fallopian tube tumour was seen, with a focal extension to the surface of the right ovary from the right fallopian tube. Total abdominal hysterectomy, bilateral adnexectomy andomentectomy, along with excision of the draining lymph nodes, was done. The histopathological examination revealed a bilateral papillary serous carcinoma of the fallopian tube. The patient was treated with adjuvant chemotherapy with Paclitaxel. There was no evidence of any recurrence, after 2 years of regular follow up. The clinical signs and symptoms of fallopian tube neoplasms are usually non-specific. The primary treatment remains a surgical resection, followed by adjuvant chemotherapy or radiation. The prognosis is poor, although long-term survivors have been reported.

Intracystic papillary carcinoma of the breast in males: a case report and review of the literature.

Carcinoma of the male breast is a relatively rare disease that accounts for less than 1% of all the cases of cancer in men. Intracystic Papillary Carcinoma (IPC) is an extremely rare disease of the male breast, with a few case reports. The prognosis is excellent for the patients who are diagnosed with IPC, regardless of whether the tumour is in-situ or of an invasive type. We are reporting the case of a 50 year old man who presented with a painless cystic lump in the left breast. Ultrasonography revealed an intracystic tumour. Fine needle aspiration suggested a papillary tumour. The patient underwent simple mastectomy without a sentinel lymph node biopsy. The final pathologic examination revealed an intracystic papillary carcinoma of a low nuclear grade without an invasion.

Mixed heterotopic gastrointestinal cyst and extranasal glial tissue of oral cavity with cleft palate.

Mixed choristomas of the oral cavity are uncommon lesions that show a variety of clinical presentations, histological appearance and growth patterns. Mixed choristoma with cleft palate is a very rare developmental malformation. We report an unusual case of mixed choristoma in posterior tongue and left submandibular region in a 6-month-old male baby who had cleft palate. The patient presented with spontaneous bleeding from mouth and recurrent swelling in submandibular region. The histology of the surgical resected specimens displayed features of heterotopic oral gastrointestinal cyst and glial choristoma. The swelling recurred 1 year after surgery; the histology of the second surgical resected specimen displayed scattered islands glial tissue.