Quantitative proteome profiling stratifies fibroepithelial lesions of the breast.

Breast fibroepithelial lesions (FELs) include heterogeneous pathological tumors, involving indolent fibroadenoma (FAD) to potentially aggressive phyllodes tumors (PTs). The current grading system remains unreliable in differentiating these tumors due to histological heterogeneity and lack of appropriate markers to monitor the sudden and unpredictable malignant transformation of PTs. Thus, there exists an imminent need for a marker-based diagnostic approach to augment the conventional histological platform that could lead to accurate diagnosis and distinction of FELs. The high- throughput quantitative proteomic analysis suggested that FAD and PTs form distinct clusters away from borderline and malignant though there exist marked differences between them. Interestingly, over-expression of extracellular matrices (ECM) related proteins and epithelial-mesenchymal transition (EMT) markers in borderline PTs led us to hypothesize a model of deposition and degradation leading to ECM remodeling and EMT acquisition triggering its malignant transformation. We also identified three candidate biomarkers such as MUCL1, HTRA1, and VEGDF uniquely expressed in FAD, borderline, and malignant PTs, respectively, which were further validated using immunohistochemistry. The present work shed light on a brief mechanistic framework of PTs aggressive nature and present potential biomarkers to differentiate overlapping FELs that would be of practical utility in augmenting existing diagnosis and disease management for this rare tumor.

Patient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India.

BACKGROUND: 46 XX male syndrome, a rare case of infertility was first reported by de la Chapelle in 1964. In newborn males, the incidence rate of the syndrome varies from 1/9000 to 1/20000. Here, a case of 46 XX male syndrome is reported with clinical, biochemical and genetic changes of the patient and normal masculine features. CASE PRESENTATION: A 29 year old male with infertility registered at the Sree Avittom Thirunal Hospital of Government Medical College, Thiruvananthapuram for fertility treatment. He was diagnosed with non obstructive azoospermia in repeated semen analysis. Chromosomal analysis on peripheral blood lymphocytes has revealed 46 XX male syndrome and the result was confirmed with Fluorescent In situ Hybridization (FISH). Real time polymerase chain reaction failed to detect genes on azoospermia factor regions, AZFa, AZFb and AZFc of Y chromosome, but detected SRY gene positivity. Masculine features of patient were normal except small sized testis, ejaculatory dysfunction and azoospermia. CONCLUSION: Appearance of the external genitalia will be generally normal in 46 XX with SRY positive males and generally difficult to identify before puberty because there will not be any significant clinical indication. The present case report demonstrates that mere physical or clinical examination may not disclose the genetic defects. Therefore, in addition to general examination, it is essential to perform genetic analysis on men with infertility.

Unicentric Castleman's Disease as a Localized Retroperitoneal Mass: A Case Report and Review of Literature.

Castleman's disease (CD) is a rare disorder characterized by proliferation of the lymphoid tissue. Clinically, it presents in two forms either a unicentric (UC) or multicentric. Mediastinum is the most common location. UC retroperitoneal presentation is rare. We report a case of 29-year-old female who presented with left loin pain, and on abdominal imaging, evaluation identified a retroperitoneal mass in the left hypochondrium in the pararenal space. Mass was surgically excised entirely. Histopathological examination demonstrated hyaline vascular type of CD. CD should be considered in differential diagnosis of retroperitoneal mass, especially in equivocal cases. We also reviewed literature of 134 cases of retroperitoneal CD to analyze the presentation, management, and outcome.

Primary Retroperitoneal Cystic Neoplasm- Case Report

Most retroperitoneal tumours arise from kidneys, adrenals, pancreas. In primary retroperitoneal tumours, lymphomas and mesenchymal neoplasms are more common. Cystic neoplasm of retroperitoneum is uncommon. Malignant tumours are seen more often than benign lesions. Metastatic disease in retroperitoneum is usually recurrence of a urological or gynaecological tumours. Primary retroperitoneal tumours are rare tumours and these tumours account for 0.1% - 0.2% of all malignancies.1 In our institution we had an interesting cystic neoplasm in the retroperitoneum.

A Review of Adipocytic Tumours, Highlighting the Changing Concepts.

Adipocytic tumours are the most common soft tissue tumours and are frequently encountered in the routine practice. Vast majority of adipocytic tumours are benign lipomatous tumours, but there are other rare heterogenous adipocytic neoplasms which can create diagnostic difficulties. It can vary from a locally recurrent tumour to a highly malignant type carrying a poor prognosis. The classification of adipocytic tumours has evolved in the last few decades due to advances in the understanding of pathogenetic basis that also provides a greater opportunity for the development of new treatment modalities. So, with the use of ancillary diagnostic tests, definite diagnostic criteria have been established, which have been described in WHO 2013 classification and recently a newer terminology have been described, which is Atypical Spindle Cell Lipomatous Tumour and it is considered as a separate entity based on its morphology and molecular studies. Lipomas are the most common benign adipocytic tumours and the less common tumours are lipoblastoma, angiolipoma, spindle cell/pleomorphic lipoma, myolipoma, chondroid lipoma, lipomatosis of nerve and hibernoma. Well differentiated liposarcomas/ atypical lipomatous tumours are locally aggressive adipocytic neoplasms that do not metastasize. More aggressive liposarcomas include myxoid liposarcoma, pleomorphic liposarcoma and dedifferentiated liposarcomas. Within a time period of 6 months we received 362 adipocytic tumours in the department of Pathology, of which 354 were benign and 8 cases were intermediate (locally aggressive) and malignant which includes atypical spindle cell lipomatous tumour, atypical lipomatous tumour/ well differentiated liposarcoma, myxoid liposarcoma and dedifferentiated liposarcoma. The cases of atypical lipomatous tumour and atypical spindle cell lipomatous tumour, its histological and molecular basis will be discussed along with this review of literature. Atypical spindle cell lipomatous tumours are seen usually in the subcutaneous location with a wide anatomic distribution and more commonly seen in the adults of 6th decade. Gross appearance ranges from yellowish to whitish depending on the amount of adipocytic and fibrous differentiation. Microscopic study shows a hypercellular to a hypocellular lesion with mild to moderately atypical spindle cells, adipocytes, lipoblast, and occasional bizarre, hyperchromatic cells. The stroma can be myxoid or collagenous. Mitotic figures are sparse without any tumour necrosis. Rare heterologous differentiation and different growth patterns have been describedincluding solitary fibrous tumour (SFT) like pattern, angiofibroma like pattern, myxoid liposarcoma like pattern and pericytic pattern. Immunohistochemistry studies show variable expression of CD34, S100 and desmin. Molecular studies identified a characteristic loss of nuclear RB gene expression with deletion of 13q14. The indolent behaviour of atypical spindle cell lipomatous tumour, with very low recurrence rate, no risk of dedifferentiation and no reported distant metastasis / death from disease, highlights the importance of distinguishing it from atypical lipomatous tumour/well differentiated liposarcoma, in order to avoid aggressive surgical resections. So atypical spindle cell lipomatous tumour is now considered as an independent entity rather than a morphological variant of atypical lipomatous tumour.