Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast India.

Head and neck squamous cell carcinoma is the most commonly diagnosed cancer worldwide. The lifestyle, food habits, and customary practices manifest the Northeast Indian population toward higher susceptibility to develop head and neck squamous cell carcinoma. Here, we have investigated the association of smoke and smokeless tobacco, and alcohol with copy number variation of cell-free mitochondrial DNA and cell-free nuclear DNA in cases and controls. Cell-free DNA from plasma was isolated from 50 head and neck squamous cell carcinoma cases and 50 controls with informed written consent using QIAamp Circulating Nucleic Acid Kit. Real-time polymerase chain reaction was done for copy number variation in cell-free mitochondrial DNA and cell-free nuclear DNA. Receiver operating characteristic curve analysis was performed to evaluate the diagnostic application between the two study groups using clinicopathological parameters. The levels of cell-free nuclear DNA and cell-free mitochondrial DNA of cases in association with smoke and smokeless tobacco, alcohol with smoking (p < 0.05) were significantly higher (p < 0.01 and p < 0.001, respectively) than controls. Using receiver operating characteristic curve analysis between head and neck squamous cell carcinoma cases and controls, we distinguished cell-free mitochondrial DNA (cutoff: 19.84 raw Ct; sensitivity: 84%; specificity: 100%; p < 0.001) and cell-free nuclear DNA (cutoff: 463,282 genomic equivalent/mL; sensitivity: 53%; specificity: 87%; p < 0.001). The copy number variation in cases (cell-free nuclear DNA: 5451.66 genomic equivalent/mL and cell-free mitochondrial DNA: 29,103,476.15 genomic equivalent/mL) and controls (cell-free nuclear DNA: 1650.9 genomic equivalent/mL and cell-free mitochondrial DNA: 9,189,312.54 genomic equivalent/mL), respectively. Our result indicates that the cell-free mitochondrial DNA content is highly associated with smoke and smokeless tobacco, betel quid chewing, and alcohol which shows greater promises, holding the key characteristics of diagnostic biomarkers, that is, minimal invasiveness, high specificity, and sensitivity.

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.

Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group, brachytelephalangic dysplasia, a benign form of CDP (CDPX1), is probably under-reported. It is an X-linked recessive disorder and is characterized by a flat nasal tip, short columella and maxillary hypoplasia, involvement of terminal phalanges, and stippled chondrodystrophy. This paper presents a clinical series of 13 patients with brachytelephalangic dysplasia. These patients enrolled during 2002-2006 were re-evaluated and their dysmorphic features were compiled in a predesigned proforma. Skeletal survey, karyotype, cardiac evaluation, and ophthalmic evaluation were planned for all the cases. Out of 13 patients, 10 were males and three were females. All patients had flat facies, a depressed nasal bridge, a hypoplastic nose, a short philtrum, notched alae nasi, brachydactyly, and hypoplastic terminal phalanges. In addition, congenital heart disease, optic nerve hypoplasia, and developmental delay were found in a few patients. Radiography showed hypoplastic terminal phalanges, delayed bone age (1/13), epiphyseal stippling in carpal (3/13) and tarsal bones (2/13), sacral bone (1/13), and bullet-shaped lumbar vertebra (1/13). Cranial neuroimaging, thyroid profile, and karyotype carried out in a few were normal. The present paper discusses various clinical features and associated abnormalities in patients with brachytelephalangic dysplasia (CDPX1) to further delineate the phenotype. The presence of a similar phenotype in females suggests the possibility of another locus or manifestation of disease in heterozygous females. Arylsulfatase E gene analysis would further help in establishing the genotype-phenotype correlation.

Giant lesser sac liposarcoma mimicking infected pancreatic pseudocyst.

The most common site for abdominal liposarcoma is the retroperitoneum. We report a 32-year-old man with lesser-sac myxoid liposarcoma with extensive cystic degeneration. Cystogastrostomy was attempted elsewhere with a misdiagnosis of pancreatic pseudocyst. However, the procedure was abandoned after biopsy, which showed features of liposarcoma. The patient was re-explored at our institute 2 weeks later. Complete excision of the tumor was done. Histology revealed features of myxoid liposarcoma. The patient received adjuvant radiotherapy and is doing well 12 months later.

Spleen-preserving distal pancreatectomy following neoadjuvant chemotherapy for papillary solid and cystic neoplasm of pancreas.

Papillary solid and cystic neoplasm (PSCN) is a rare neoplasm of the pancreas with low-grade malignant potential and favorable prognosis. We report an 18-year-old girl with PSCN presenting with advanced disease. The tumor regressed with six cycles of gemcitabine and cisplantin-based neoadjuvant chemotherapy; spleen-preserving distal pancreatectomy was then done. She is disease-free at 13 months' follow-up.

Anorectal melanoma: a large clinicopathologic study from India.

Anorectal melanoma is a rare tumor. It has dismal prognosis; only 10% of patients live longer than 5 years. It commonly presents as bleeding from the rectum or as a hemorrhoidal mass. The management of this tumor is controversial. Some authors believe that a palliative local excision is the treatment of choice, whereas others recommend radical surgery in localized disease. We present a retrospective analysis of 72 patients who were managed at our center between 1990 and 2001. This is the largest series from India. Most patients (48/72; 66%) presented with distant metastases. Twenty-four patients (24/72; 33%) underwent an abdomino-perineal resection. Nineteen patients (19/24) had positive lymph node disease, and the mean disease-free survival in these patients was 10.3 months. Disease-free survival in the node-negative patients was 26.5 months. A subset of patients with localized disease can benefit from radical surgery. In patients with large bulky localized disease, radical surgery provides better palliation than local excision.