Erdheim-Chester disease with multisystemic involvement: a diagnostic challenge

Erdheim–Chester disease (ECD) is a rare, non-inherited, non- Langerhans form of histiocytosis of unknown origin, first described in 1930. This entity is defined by a mononuclear infiltrate consisting of lipid laden, foamy histiocytes that stain positively for CD68. Individuals affected by this disease are typically adults between their 4th and 6th decades of life. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen with aid of clinical and radiological data. Here we present a rare case of Erdheim-Chester disease in a 46 year male patient based on clinical data, radiological data, histopathological and immunohistochemistry findings.

Cytopathological diagnosis of primary synovial sarcoma of lung–A rare case report.

Synovial sarcomas represent about 10% of all soft tissue sarcomas. Primary pleuropulmonary synovial sarcoma (SS) is a rare neoplasm. We report a case where lung mass was detected on imaging and was reported as synovial sarcoma on cytopathological, histopathological, immunohistochemical analysis and confirmed by cytogenetics.

Adjunctive role of immunohistochemistry to traditional histomorphology in diagnosis and accurate typing of soft tissue sarcoma.

Background: Soft tissue sarcomas, compared with carcinomas and other neoplasms, are relatively rare and constitute less than 1% of all cancers. Immunohistochemistry (IHC) especially a panel approach is an important adjunct to histopathological morphology and plays an important role in Soft tissue sarcoma diagnosis and accurate typing. Aims & Objective: Current study is to evaluate the utility of histopathology and immunohistochemistry in soft tissue sarcoma diagnosis and accurate typing. Material and Methods: Total of 50 cases of soft tissue sarcoma studied from January 2010 to October 2012. All cases were reported using routine (H&E) Hematoxylin- eosin stain and other ancillary techniques including panel approach of immunohistochemistry. Results: Histomorphology confirmed diagnosis in 22 % cases. In 78 % cases it was contributory to IHC. IHC provide confirmative diagnosis (Single diagnosis) in 45 cases (90%), definitive diagnosis (with two possibilities) in 4 cases (8%) and noncontributory in 1case (2%). Conclusion: Despite the rapid development of molecular genetic techniques, IHC still remains the most important diagnostic tool in the diagnosis of soft tissue tumours aside from recognition of morphologic features and clinical correlation. One of its major utilities is to correctly identify a tumour as mesenchymal or nonmesenchymal origin and then accurate typing done according to specific cell lineage. IHC is specifically useful in tumours of uncertain cell lineage and primitive round cell tumours. Indeed IHC has brought Brown revolution in sarcoma diagnosis and accurate typing. But important not to forget histopathology which provide the basic platform for the panel approach of IHC.

Histopathological spectrum of tumours of upper aero digestive tract in Surat - A study of 156 cases.

Background: Cancers of the upper aero-digestive tract (UADT) constitute 3.5-4% of all malignancies. Majority of cases are squamous cell carcinomas which are related with various epidemiologic factors. Aims & Objective: The objective of this study is to know the histopathological spectrum of tumours of UADT. Material and Methods: This study comprises of 156 cases of histopathological diagnosed tumours of upper aero digestive tract who attended new civil hospital, government medical college, Surat, from August 2010 to august 2012. All prospective and neoplastic cases were included and retrospective and non- neoplastic cases were excluded. Routine paraffin sectioning and staining was done and immunohistochemistry was applied when required. Results: Out of total 156 cases of UADT, 129 malignant, 19 cases benign and 8 were carcinoma in-situ cases. In malignant cases, 124 (96.00%) cases of carcinomas, 1 (0.80%) case of sarcoma, 2 (1.60%) cases of melanoma, and 2 (1.60%) cases were of lymphomas. Most common site of carcinoma was oral cavity (tongue). Most common carcinoma was Squamous cell carcinoma. Most common site of SCC was hypo pharynx (pyriform Fossa), followed by oral cavity (tongue) and larynx (supra glottis). In benign tumours, most common site was nasal cavity (7 cases) and common varieties were Angiofibroma and Capillary Haemangioma. Conclusion: Tumours of UADT are predominant in males affecting older age group. People with tobacco chewing, smoking, alcoholism, poor socioeconomic background, mixed diet and poor oral hygiene are more vulnerable.

Selection of mode of biopsy in histopathological diagnosis of Soft tissue sarcoma depending on diagnostic accuracy and feasibility: Debatable issue in modern era.

Background: Biopsy method of choice is a controversy issue for diagnosis of soft tissue sarcoma which are traditionally been managed by wide excision surgery and radiotherapy. Chemotherapy is reserved for advanced cases. Aims & Objective: The objective of study was to evaluate diagnostic accuracy of various modes of biopsy focusing on image guided core needle biopsy (CNB). Material and Methods: Current study includes 50 cases of soft tissue sarcoma from January 2010 to October 2012. The Mode of biopsies included image guided CNB, open and excision biopsy. Effective accuracy of each was determined by accuracy of biopsy to provide adequate tissue for histopathological and other special examinations like immunohistochemistry to reach final diagnosis. Results: Out of total 50 cases CNB was done in 13 cases, open biopsy in 2 cases and in 35 cases excision biopsy was done. CNB was adequate in 92.31 % cases and 7.69 % cases it was inadequate. Open and excision biopsy were 100 % adequate. Conclusion: Image guided CNB is very helpful in early diagnosis and shows high accuracy especially for high-grade sarcoma. It is less invasive compared to others and differentiate benign from malignant. It is handful when preoperative diagnosis is essential for planning pre-operative chemotherapy especially in patients with primarily inoperable, advanced tumour with compromised performance status or recurrent tumour. But it should be properly directed and representative of whole tumour and require full radiological correlation by experienced hands. Tumours with myxoid pattern, lipomatous tumours and low grade sarcomas encounters lower diagnostic accuracy on CNB.

Immunohistochemistry: A diagnostic tool for accurate characterization of undifferentiated malignant tumours.

Background: The impact of diagnostic immunohistochemistry for the surgical pathology is legendary especially when it provides true identity of undifferentiated tumours. This not only is important for prognostication & therapy but also provide further insights into the pathobiology of these tumours. Aims & Objective: This study was undertaken to determine the role and significance of immunohistochemistry for accurate diagnosis and subtyping of undifferentiated malignant tumours as it is essential in guiding therapy and prognosis. Material and Methods: Immunohistochemical staining (IHC) performed was based on Peroxidase Antiperoxidase (PAP) method on paraffin sections, using appropriate mono/polyclonal antibodies. Total 74 cases including six consultation cases were studied from August 2008 to November 2011, which were reported as undifferentiated or poorly differentiated malignant tumor using routine hematoxylin- eosin stains. Results: The histopathology and IHC reports of 74 tumours were reviewed and assigned to appropriate categories. It was possible to arrive at a diagnosis in 73 cases (98.65%) with the help of IHC. Carcinoma was the commonest diagnosis (27 cases, 36.50%) followed by lymphoma (18 cases, 24.32%), sarcoma (14 cases, 18.92%), malignant melanoma (3 cases, 4.05%) and neuroblastoma (3 cases, 4.05%). Conclusion: Immunohistochemistry is helpful in the majority of difficulties arising during histological diagnosis of undifferentiated malignant tumours and serves as a diagnostic, prognostic, and predictive tool.

Diagnostic accuracy of fine needle aspiration cytology in soft tissue tumors: our institutional experience.

Background: Diagnosis of Soft tissue tumors by FNAC (Fine needle aspiration cytology) is one of the diagnostic modality of choice in pathological evaluation of soft tissue neoplasms especially to differentiate from the non-neoplastic soft tissue lesions. It is challenging and controversial. Very few centers rely on simple FNAC for diagnosis which is largely due to a lack of experience, familiarity, confidence and tricky cytological features. Methods: We have studied 140 cases of soft-tissue tumors by simple FNAC procedure done by cytopathologist from 01/01/2012 to 31/12/2012. After considering thorough history, clinical, radiology and other findings all cases were reported by the experienced faculty in cytopathology section of our institute. Results: Out of total 140 cases of soft tissue tumors 131 (93.58%) were benign and 9 (6.42%) were malignant. In benign category maximum numbers were lipoma 105 cases (80.15%) followed by benign neural tumors 5 cases (3.82%), ganglion 4 cases (3.05%), benign fibrohistiocytic lesions 2 cases (1.53%) and others. Conclusions: Current study demonstrates that FNAC is valuable as a primary tool in diagnosing soft tissue tumors specifically benign lesions like lipomatous tumors, high grade malignant sarcoma and recurrent lesions. Findings are well supported by histopathological correlation.