Atin Singhai

Molecular profiling of ETS and non-ETS aberrations in prostate cancer patients from northern India

Molecular stratification of prostate cancer (PCa) based on genetic aberrations including ETS or RAF gene‐rearrangements, PTEN deletion, and SPINK1 over‐expression show clear prognostic and diagnostic utility. Gene rearrangements involving ETS transcription factors are frequent pathogenetic somatic events observed in PCa. Incidence of ETS rearrangements in Caucasian PCa patients has been reported, however, occurrence in Indian population is largely unknown. The aim of this study was to determine the prevalence of the ETS and RAF kinase gene rearrangements, SPINK1 over‐expression, and PTEN deletion in this cohort.

Cheek metastasis from a bladder tumor: unusual presentation of an aggressive disease

Transitional cell carcinoma (TCC) has been well described for its propensity to metastasize to distant sites. Metastases to the soft tissues of the oral cavity from a bladder cancer are extremely rare. We present the case of a 65-year-old man who presented with history of hematuria for 1 month and was found to have high-grade TCC of the bladder. He developed a cheek lesion after 3 weeks, which was diagnosed as metastatic nodule along with pulmonary metastases from high-grade bladder TCC. The patient received chemotherapy followed by the radiotherapy of the cheek lesion, but he succumbed after 3 months due widespread metastatic disease. We also presented a review of the literature regarding this rare presentation.

Multilocular cystic renal cell carcinoma: a rare entity

Multilocular cystic renal cell carcinoma (MCRCC) is an uncommon subtype of clear cell renal cell carcinoma that appears to have a favourable prognosis. Literature reports a very low incidence of 1-2% of MCRCC among the renal neoplasms. The first such reported case was in 1957 by Robinson. In 1998, Eble et al suggested following diagnostic criterion for MCRCC: (1) an expansile mass surrounded by a fibrous capsule; (2) interior of tumour entirely composed of cysts and septa with no expansile nodule or solid component confined to more than 10% of entire tumour and (3) septa containing aggregates of clear epithelial cells. We report a case of MCRCC in a 60-year-old male patient who presented with abdominal lump and after suspicion of renal malignancy underwent nephrectomy. The patient was perfectly well till last follow-up of 3 months postoperatively.

Clear cell sarcoma of kidney: A rare entity.

Clear cell sarcoma of the kidney is an uncommon renal neoplasm of childhood. It represents one of the most common unfavorable tumors included in National Wilms’ Tumor Study Group clinical protocols. We came across this rare tumor in a 2-year-old male child. The case report is followed by discussion, stating the differentiating features between Wilms’ and clear cell sarcoma, histological details, treatment, and prognostication.

Alteration in lipid composition differentiates breast cancer tissues: a 1H HRMAS NMR metabolomic study

IntroductionBreast cancer is the most frequent diagnosed cancer among women with a mortality rate of 15% of all cancer related deaths in women. Breast cancer is heterogeneous in nature and produces plethora of metabolites allowing its early detection using molecular diagnostic techniques like magnetic resonance spectroscopy.ObjectivesTo evaluate the variation in metabolic profile of breast cancer focusing on lipids as triglycerides (TG) and free fatty acids (FFA) that may alter in malignant breast tissues and lymph nodes from adjacent benign breast tissues by HRMAS 1H NMR spectroscopy.MethodsThe 1H NMR spectra recorded on 173 tissue specimens comprising of breast tumor tissues, adjacent tissues, few lymph nodes and overlying skin tissues obtained from 67 patients suffering from breast cancer. Multivariate statistical analysis was employed to identify metabolites acting as major confounders for differentiation of malignancy.ResultReduction in lipid content were observed in malignant breast tissues along with a higher fraction of FFA. Four small molecule metabolites e.g., choline containing compounds (Chocc), taurine, glycine, and glutamate were also identified as major confounders. The test set for prediction provided sensitivity and specificity of more than 90% excluding the lymph nodes and skin tissues.ConclusionFatty acids composition in breast cancer using in vivo magnetic resonance spectroscopy (MRS) is gaining its importance in clinical settings (Coum et al. in Magn Reson Mater Phys Biol Med 29:1–4, 2016). The present study may help in future for precise evaluation of lipid classification including small molecules as a source of early diagnosis of invasive ductal carcinoma by employing in vivo magnetic resonance spectroscopic methods.

Type 1 Papillary Renal Cell Carcinoma Presenting as an Infected Benign Renal Cyst: an Uncommon Presentation

We describe an unusual presentation of papillary renal cell carcinoma in a 40-year old male where radiological evaluation revealed a Bosniak type 2 cyst (probably benign), and clinical signs as well as symptoms also suggested an infected cyst l. However, on histopathological examination, an intra cystic type 1 papillary renal cell carcinoma was diagnosed. This is an extremely rare presentation of papillary renal cell carcinoma because it usually present as a heterogenous mass. Hence, even the radiologically benign cyst should be evaluated and managed cautiously.

Mature benign lipoblastoma: A rare case

We report here a case of lipoblastoma in a 14 year old boy along with a brief review of literature. He presented with multiple soft tissue swellings averaging 1 to 2 cm in maximum dimension over his right thigh and upper limbs with no other apparent constitutional symptoms. These were present since 2 years and were slowly enlarging. Ultrasonography revealed lipoid like density of these masses. Excision of one of his thigh swellings was carried out and histopathological examination revealed presence of lipoblasts in a myxoid background, which was unusual at this age of presentation. The final diagnosis was made as mature benign lipobastoma. Myxoid liposarcoma was considered as a differential diagnosis, however, it was ruled out on account of absence of any nuclear atypia or pleomorphism. Patient was subsequently discharged with no evidence of recurrence at the excision site even at one year of follow up.

Retroperitoneal teratoma simulating giant adrenal myelolipoma: a diagnostic puzzle

Teratoma is a germ-cell tumour that is common in para-axial regions. Retroperitoneal teratoma is rare and comprise only about 1% of all teratomas. We present a 21-year-old female who presented with a lump in the abdomen. After radiological investigations, she was diagnosed as case of adrenal myelolipoma which on excision turned out histologically to be retroperitoneal teratoma. Our case highlights the limitation of radiological investigations in preoperative diagnosis of teratoma.

Evaluation of Serum of Breast Cancer Patients using High ResolutionMagic Angle Proton Magnetic Resonance Spectroscopy (HR-MAS): ASearch for Possible Biomarker?

Background: Early diagnosis is an important factor for successful outcome in breast cancer. Current existing prognostic and predictive tool like ER, PR and HER2 status have main utility to guide whether a patient should or should not receive adjuvant endocrine or targeted therapy and situation has become more complex after the discovery of genomic tests like oncotype Dx etc. So the need to enhance the understanding of the disease process and treatment response, a hunt for suitable tumor marker is still on. Sample collection: 5-7 ml fasting peripheral venous blood was withdrawn from newly diagnosed breast cancer patients. The subjects were properly matched in terms of age, sex, dietary habits and other parameters. The blood was centrifuged and resultant supernatant serum was put into the 3 ml ependorf tube and the specimen was immediately snap frozen in liquid nitrogen and was transferred to the HRMAS lab where it was stored at -80oC. HRMAS experiment: The collected samples (Malignant 32, Benign 32 and Healthy Control 28) were thawed and subjected to 800 MHz HRMAS spectrometer. The serum samples were recorded in native form using TSP as an internal standard and a coaxial insert. The spectra were acquired using 1D single pulse and Carr-Purcell-Meiboom-Gill (CPMG) pulse sequence with water suppress [PRESET- 90 degree- (δ-180°-δ)n-Aq] with a echo time of 40 ms. The HRMAS findings were correlated with the standard histopathological report. Results: The 3D scattered PCA score plot of serum (explaining 83% of the total variance showed distinct group separation among the healthy, fibroadenoma and malignant tumor samples. The PLS-DA model generated considering all the three groups showed a predictive ability of 78% which proves that the model was robust enough for group differentiation. The X-loading plot (PC-1 which explained 69% of total variance) of the cases, exhibited positive loadings of lactate, succinate and alanine in serum. When compared with healthy controls, while glucose was found to be down-regulated in almost all the fibroadenoma and malignant cases. Thus, glucose along with lactate appeared to be the major confounders between the two groups viz. healthy and tumor groups. Conclusion: All malignant tumors showed up regulation of lactic acid, acetate and choline containing compounds while down regulation of glucose and lipids. The study did provided evidence for the clinical use of these identified metabolites. However, future studies involving large sample size using sequential samples should be carried out.

Establishing a deceased donor program in north Indian region: lessons learnt

Living‐related donors are the source of almost all organ transplants in India. However, these donations fall far short of current needs, and there remains a huge disparity between demand and supply of organs. In the last five yr, a consistent increase in deceased donor transplant activity has been observed in some southern Indian states. This report describes our experience of establishing a new deceased donor program in the state of Uttar Pradesh in north India.