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Androgen insensitivity syndrome： do trinucleotide repeats in androgen receptor gene have any role？

Asian Journal of Andrology 2008年第4期10卷 616-624页

作者： Singh Rajender nalini J. gupta Baidyanath Chakravarty Lalji Singh Kumarasamy Thangaraj Centre for Cellular and Molecular Biology Uppal Road Hyderabad 500007 India Institute of Reproductive Medicine Salt Lake Kolkata PN 700064 India Division of Endocrinology Central Drug Research Institute Lucknow India

Aim： To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome （AIS） phenotype. Methods： We analyzed lengths of androgen receptor （AR）-CAG and GGN repeats in 69 AIS cases, along with 136 unrelated normal male individuals. The lengths of repeats were analyzed using polymerase chain reaction （PCR） amplification followed by allelic genotyping to determine allele length. Results： Our study revealed significantly shorter mean lengths of CAG repeats in patients （mean 18.25 repeats, range 14-26 repeats） in comparison to the controls （mean 22.57 repeats, range 12-39 repeats）（two-tailed P 〈 0.0001）. GGN repeats, however, did not differ significantly between patients （mean 21.48 repeats） and controls （mean 21.21 repeats）（two- tailed P = 0.474）. Among patients＇ groups, the mean number of CAG repeats in partial androgen insensitivity cases （mean 15.83 repeats） was significantly less than in complete androgen insensitivity cases （mean 19.46 repeats）（two- tailed P 〈 0.0001）. Conclusion： The findings suggest that shorter lengths of repeats in the AR gene might act as low penetrance genetic background in varying manifestation of androgen insensitivity.

关键词： androgen receptor CAG repeat GGN repeat androgen insensitivity

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Epithelial-Myoepithelial Carcinoma of Parotid Gland—A Surprising Clinical Entity

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Surgical Science 2012年第5期3卷 274-278页

作者： Jaimanti Bakshi Grace Budhiraja Karan gupta Sourabha K. Patro nalini gupta Department of Otolaryngology & Head-Neck Surgery & Department of Cytopathology PGIMER Chandigarh India

Objective: Objective of this study is to highlight the importance of considering clinical and radiological findings in parotid tumors before operating tumors with high suspicion of malignancy though reported as benign on histopathology. Material and Methods: 20 years old female patient underwent radical parotidectomy for epithelial-myoepithelial carcinoma of the left parotid gland which was diagnosed on FNAC. Contrast CT and contrast MRI also showed a tumor involving left parotid gland with destruction of ramus of mandible and loss of tissue planes medially & laterally. Facial nerve was infiltrated by tumor, thus sacrificed. Post operatively, patient had left facial palsy and was discharged after 7 days without any other sequelae. Postoperative histopathology showed pleomorphic adenoma with positive resection margins medially, superiorly & posteriorly. No further treatment was given in view of the benign nature of the tumor. Results: Patient was kept on monthly follow up and was disease free at one year follow up. Conclusion: Aggressive surgical treatment should be planned for malignant parotid tumors to give a better tumor free survival. Misdiagnosis can occur on FNAC as it can hit only one part of the tumor thus missing a malignant tumor or can interpret pleomorphic adenoma as epithelial-myoepithelial carcinoma.

关键词： Myoepithelial Parotid Carcinoma Pleomorphic Adenoma

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Neurolymphomatosis: A Rare Cause of Multiple Mononeuropathy

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World Journal of Neuroscience 2014年第2期4卷 190-193页

作者： Gayathri Petluri Manoj Kumar Goyal Veenu Singla Bhagwant Rai Mittal Uma Nahar Manish Modi nalini gupta Dheeraj Khurana 4Department of Histopathology Post Graduate Institute of Medical Education & Research (PGIMER) Chandigarh India Department of Cytology and Gynecological Pathology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India Department of Neurology Post Graduate Institute of Medical Education & Research (PGIMER) Chandigarh India Department of Nuclear Medicine and PET Post Graduate Institute of Medical Education & Research (PGIMER) Chandigarh India Department of Radiodiagnosis Post Graduate Institute of Medical Education & Research (PGIMER) Chandigarh India

Neurolymphomatosis, defined as invasion of cranial nerves and peripheral nerve roots, plexus or nerves by Non Hodgkin’s Lymphoma is a very rare clinical entity. We describe a case of 69 years old gentleman, who presented to us with asymmetric, painful sensorimotor polyneuropathy. He was admitted with 2 months history of dry cough, constitutional symptoms, paraesthesias on right side of face along with painful asymmetrical quadriparesis. Nerve conduction studies were suggestive of asymmetrical sensorimotor axonal and demyelinating neuropathy. Cerebrospinal fluid analysis revealed mild pleocytosis with raised protein. FDG-PET showed intense uptake in both adrenals, abdominal lymph nodes, sacral nerve roots and brachial plexus. Fine needle aspiration cytology of adrenal mass revealed evidence of diffuse large B cell Non Hodgkin’s Lymphoma. As patient succumbed to illness, an autopsy was done, which revealed diffuse large B cell lymphoma involving adrenals, brachial and lumbosacral plexuses. Our report provides important insights into a rare cause of painful demyelinating multiple mononeuropathy and emphasises on increasing role and diagnostic utility of PET imaging in evaluation of patients presenting with multiple mononeuropathy, especially with regards to paraneoplastic or neoplastic causes such as lymphoma.

关键词： Neurolymphomatosis FDG PET Scan Multiple Mononeuropathy CIDP

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Extrapulmonary small cell carcinoma of lymph node: Pooled analysis of all reported cases

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World Journal of Clinical Oncology 2016年第3期7卷 308-320页

作者： Inderpaul Singh Sehgal Harpreet Kaur Sahajal Dhooria Amanjit Bal nalini gupta Digambar Behera Navneet Singh Department of Pulmonary Medicine Postgraduate Institute of Medical Education and Research Department of Histopathology Postgraduate Institute of Medical Education and Research Department of Cytology and Gynecological Pathology Postgraduate Institute of Medical Education and Research

AIM: To study clinical outcomes and management of lymph nodes extrapulmonary small cell carcinoma(LNEPSCC). METHODS: Herein, we perform a systematic search of published literature in the PubMed and EMBASE databases for studies describing LNEPSCC. For uniformity of reporting, LNEPSCC was staged as limited if it involved either single lymph node station or if surgery with curative intent had been undertaken. The disease was staged extensive if it involved two or more lymph node ***: The systematic literature review yielded eight descriptions(n = 14) involving cervical, submandibular and inguinal lymph nodes. Eleven(64.7%) patients had limited disease(LD) and six(35.3%) had extensive disease(ED) at presentation. Chemotherapy(n = 6, 35.3%) or surgery(n = 4, 23.5%) were the most common form of treatment given to these patients. Complete response was achieved in 12(70.6%) of the patients. Median(interquartile range) progression free survival and overall survival was 15(7-42) mo and 22(12.75-42) mo respectively. Of the three illustrative cases, two patients each had ED at presentation and achieved complete remission with platinum based combination ***: LNEPSCC is a rare disease with less than 15 reported cases in world literature. Surgical resection with curative intent is feasible in those with LD while platinum based combination chemoradiation is associated with favorable outcomes in patients with ED. Prognosis of LNEPSCC is better than that of small cell lung cancer in general.

关键词： Extrapulmonary Small cell Carcinoma Lymph node Small cell lung cancer

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