Evaluation of HER2/neu oncoprotein in serum & tissue samples of women with breast cancer.

Background & objectives: The proto-oncogene HER2/neu has been extensively studied in breast cancer patients. Serum levels of HER2/neu by ELISA in breast cancer patients were compared with tissue HER2/neu expression and with other clinicopathological parameters with the aim to investigate whether the serum assay could replace the established tests (IHC/FISH) for HER-2 status. Methods: Blood and Tru-cut biopsy samples were collected for determining HER2/neu status in 64 breast cancer patients. The tissue specimens were processed routinely and immunohistochemistry (IHC) for HER2/ER/PR (oestrogen/progesterone receptors) performed. Fluorescence in-situ hybridization (FISH) was performed on all HER2/neu 2 positive cases. Sixty age matched healthy females and females with benign breast disease were taken as controls for ELISA. Results: Of the 64 breast cancer cases, 25 (39.1%) had elevated serum HER2/neu levels accompanied with increased tissue expression of HER2/neu receptors. On IHC, HER2/neu score was 3+ in 24 (37.5%) cases, 2+ in three (4.6%), 1+ in 18 (28.1%); while 19 cases (29.7%) showed no HER2/neu expression. Of the three 2+ cases on IHC, two showed amplification on FISH. Twenty one (32.8%) patients were ER positive and 17 (26.6%) were PR positive. There was a significant correlation (P<0.001) of serum HER2 concentration with tumour size, lymph node involvement, stage of disease and histological grade. Serum HER2/neu levels showed a negative correlation with ER status (P=0.047) but no correlation with PR status. Interpretation & conclusions: The results suggest that elevated serum HER2 level was associated with a clinicopathological aggressive phenotype of breast carcinoma and was related to tissue HER2 overexpression. Therefore, serum HER2 may be useful for monitoring the course of the disease and response to treatment.

Intramuscular, extraskeletal mesenchymal chondrosarcoma.

Extraskeletal mesenchymal chondrosarcoma (EMC) is a rare and a malignant chondrogenic neoplasm. As a particularity of this neoplasm, about one-third of the cases develop outside the bone, with intramuscular site being a very rare location for development of EMC. The diagnosis of mesenchymal chondrosarcoma can be very challenging, especially in cases without conspicuous cartilaginous differentiation. In such cases its distinction from other small cell mesenchymal neoplasms cannot be safely established. This, however, is of major clinical interest as it implicates different treatment protocols as well as a different prognosis. We hereby present a case of EMC at a unusual location in a 23-year-old female with the purpose to highlight its morphologic features and to discuss its differential diagnosis.

Cytomorphology and immunohistochemistry of extrarenal rhabdoid tumor: A case report with review of literature.

Extrarenal rhabdoid tumor (ERRT) is a rare, aggressive tumor with extremely poor prognosis. We report a case of ERRT with intraspinal extension in a 1.5-year-old child diagnosed by fine needle aspiration cytology (FNAC) and immunohistochemistry. The child presented with a right lumbar region lump of two months duration. Ultrasound guided FNAC was performed and cell block was prepared. Smears were highly cellular and showed a dispersed population of large round cells having abundant pale eosinophillic cytoplasm, centrally to eccentrically placed nucleus with large prominent nucleoli. Immunohistochemistry was carried out on cell block which was positive for epithelial membrane antigen EMA and Vimentin. It was negative for leucocyte common antigen [LCA], wilms tumor 1, WT1, desmin and neuron specific enolaseNSE, thus ruling out other tumors like lymphoma, Wilms tumor, rhabdomyosarcoma, and neuroblastoma. A final diagnosis of ERRT was given. ERRT is an extremely rare tumor of retroperitoneal area; it should be included in the differential diagnosis of malignant round cell tumor in children. Cell block in this case is mandatory for putting up the panel of immunohistochemistry which can clinch the diagnosis of rhabdoid tumor and treatment can be started as early as possible.

Isolated distal cutaneous thrombosis: An unusual presentation and an interesting etiology.

A middle-aged hypertensive male, with a fatty liver and chronic alcohol intake, relocated to a high altitude of 2100 m above sea level; in the first winter season, he developed bluish skin lesions over the tip of the nose, margins of both ear lobes, both knees, and subungual location. Systemic examination was unremarkable. Skin biopsy showed thrombi in dermal vessels without any evidence of vasculitis; immunofluorescence was negative. Investigations revealed mild elevation in plasma homocysteine levels, weakly positive antinuclear antibodies and elevated antiphospholipid antibodies, methylene tetrahydrofolate reductase C677T heterozygosity, and protein S deficiency. The patient received prednisolone for 2 weeks, aspirin and pentoxyphylline for 3 months, and continues to be on folic acid and vitamin B6. After 3 months, antiphospholipid antibodies and antinuclear antibody levels were normal. Isolated distal cutaneous thrombosis is an uncommon entity and precipitation by extreme cold in a hypertensive male with three thrombophilic states - one transient, one hereditary, and one acquired - is fascinating.

Congenital langerhans cell histiocytosis with skin and lung involvement: Spontaneous regression.

Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare type of Langerhans Cell Histiocytosis, presenting at birth or during the neonatal period with eruption of multiple, discrete red-brown papules or nodules that undergo spontaneous regression. Systemic signs are generally absent. We describe a 4-month-old infant presenting with reddish brown nodular cutaneous lesions since birth with a past history suggestive of pulmonary involvement. Skin biopsy showed a dermal infiltrate of pleomorphic histiocytes; which were CD1a and S-100 positive, consistent with the diagnosis of CSHLCH. Both pulmonary and cutaneous lesions showed spontaneous resolution.

Utility of fibronectin in immuocytochemial differentiation of reactive mesothelial cells from metastatic malignant cells in serous effusions.

Cytological evaluation of serous effusions often poses difficulties to the pathologists. This study was designed to assess the utility of fibronectin as a mesothelial cell marker and evaluate its use along with carcinoembryonic antigen (CEA) as a short panel to aid in the differentiation of reactive mesothelial cells from metastatic adenocarcinoma cells in serous effusions. Forty serous effusion cases from clinically benign cases and forty from clinically malignant cases with a known primary were included in the study. After routine cytological evaluation, the cases were categorized as benign, suspicious and malignant. All the cases were studied for fibronectin and CEA immunostaining using APAAP technique. In the present study, fibronectin emerged as a 100% specific and 93.4% sensitive marker for mesothelial cells. CEA immunostaining was seen in 80% cases of metastatic adenocarcinoma in serous effusions. Mesothelial cells did not show any CEA positivity. Short panel of CEA and fibronectin aided in reaching a correct diagnosis in three out of five cytologically suspicious cases.

Spindle cell neoplasm of skin: diagnostic dilemma.

Poorly differentiated, spindle cell malignancies, on sun damaged skin frequently pose a diagnostic challenge for pathologists. The vast majority of these neoplasms ultimately are diagnosed as either atypical fibroxanthoma (AFX), spindle cell melanoma (SCM), and very rarely as spindle cell squamous cell carcinoma (SCSCC), leiomyosarcoma or angiosarcoma. Light microscopic clues may suggest one of these neoplasms, but subtle and overlapping characteristics often render precise diagnosis impossible based on morphological features alone. Immunohistochemistry therefore is necessary to firmly and accurately diagnose the majority of spindle cell malignancies on sun damaged skin. Aim of this case report is to highlight the practical approach to such diagnostic dilemmas.

Cytomorphology of a case of primary cutaneous B-cell lymphoma.

Primary cutaneous lymphoma designates a heterogenous group of disorders arising from skin T and B cells with no evidence of extra cutaneous disease at the time of diagnosis and six months thereafter. We report the cytomorphological features of a case of primary cutaneous lymphoma, B cell type in a 60 year old female presenting with multiple large bosselated red coloured swellings all over the scalp. Clinical examination revealed no other swelling or lymphadenopathy. On cytology a diagnosis of B-cell cutaneous lymphoid hyperplasia (B-CLH) was given, however cutaneous lymphoma could not be ruled out. On biopsy and immuno-histochemistry a diagnosis of primary cutaneous lymphoma B cell type was made. Patient was started on specific chemotherapy of lymphoma to which she responded completely. Here we highlight the cytomorphologic, histopathological and immunohistochemical features of this rare lesion with a particular emphasis on the diagnostic dilemma encountered on cytology.

Intra-abdominal cavernous lymphangiomatosis in Siamese twins: a case report.

Lymphangioma is a benign tumor like condition which is a developmental anomaly, involving any site but rarely involves retroperitoneum and abdomen (< 5%). Intraabdominal lymphangiomatosis is an even rarer entity that too occurring in a siamese twins. No such reports have been found in literature, although other congenital anomalies do coexist in Siamese twins and have been reported such as biliary tract and respiratory tract anomalies.

Congenital cystic adenomatoid malformation associated with ipsilateral eventration of the diaphragm.

A two-month-old girl was operated for a left-sided eventration of the diaphragm. At surgery, a mass representing an extralobar pulmonary sequestration (EPS) was found inferior to the left lobe of the lung and was excised. Histopathological examination of the resected specimen showed presence of a type II congenital cystic adenomatoid malformation (CCAM) within it. A review of the relevant literature is presented.

Epithelial myoepitheial carcinoma of minor salivary gland--low grade malignant tumor presenting with nodal metastasis.

Epithelial myoepithelial carcinoma (EMC) is a rare low grade malignant salivary gland neoplasm that most commonly occurs in the parotid gland but can also arise in minor salivary glands. We report a case of primary epithelial myoepithelial carcinoma of minor salivary gland in a 25 year old women who presented with swelling left cheek of one year duration and bilateral submandibular lymphadenopathy. A mass causing erosion of mandible, thyroid cartilage and masseter muscle was identified on CT scan. This was excised and histological examination revealed a mixture of ductal structures consisting of inner dark cells and outer clear cells seen in solid sheets. Immunohistochemical analysis showed the clear cells to be weakly positive for S100 and smooth muscle actin (SMA) and ductal cells to be positive for cytokeratin (CK) and epithelial membrane antigen (EMA). The characteristic morphological and immunohistochemical features aided in the diagnosis of epithelial myoepithelial carcinoma.

Antemortem diagnosis of gastrointestinal mucormycosis in neonates: report of two cases and review of literature.

Gastrointestinal mucormycosis has been reported more frequently in adults than in children. Due to high mortality diagnosis is usually made at autopsy. Only 3 cases of neonates surviving this disease have been described. We report two cases of preterm neonates presenting clinically with symptoms of necrotizing enterocolitis (NEC), but lacking radiological characteristics of NEC where histopathology confirmed the diagnosis of gastrointestinal mucormycosis involving caecum and appendix.

Cytomorphological features of nodular hidradenoma highlighting eccrine differentiation: a case report.

We report a case of nodular hidradenoma in a 90 year old male, presenting with an eyelid swelling. The cytomorphological features are described with special emphasis on cytoplasmic granularity and tubule formation as an important feature in diagnosing and differentiating eccrine tumors from other adnexal neoplasms on FNAC.

Comparison of direct immunofluorescence and ELISA for the detection of Chlamydia trachomatis antigen in the patients of pelvic inflammatory disease.

Fifty female patients clinically diagnosed as pelvic inflammatory disease (PID) attending Gynaecology OPD of Smt. Sucheta Kriplani Hospital were studied for the presence of Chlamydial antigen by direct immunofluorescence (DFA) and Enzyme linked immunosorbant assay (ELISA) test. Out of fifty PID patients Chlamydia tracchomatis lipopolysaccharide antigen could be detected in 28% of cases by ELISA and Chlamydial outer membrane protein antigen could be detected in 32% of cases by DFA. Although in the present study DFA and ELISA compare well with each other, but DFA has been found to be more specific test as it detects outer membrane protein antigen of Chlamydia trachomatis.

Evaluation of adnexal masses by ultrasound and fine needle aspiration cytology.

Forty Eight cases of adnexal masses were subjected to ultrasound and FNAC. In this study, FNAC could differentiate benign and malignant adnexal masses in 98% of cases where as ultrasound was successful in 85% of cases. FNAC is a safe simple, rapid & reliable investigation. The complex adnexal masses present a diagnostic challenge with particular reference to the findings predictive of malignancy.