Cytodiagnostic problems in cervicovaginal smears from symptomatic breast cancer patients on tamoxifen therapy.

OBJECTIVE: To evaluate the effect of tamoxifen on cervicovaginal epithelium, identify tamoxifen-related changes that mimic cancer and detennine the morphologic features differentiating the 2 changes. STUDY DESIGN: Cervicovaginal smears from 153 conventionally treated primary breast cancer patients presenting with gynecologic symptoms were studied. RESULTS: All 153 patients presented with menorrhagia or irregular periods. Of 4 patients with a cytodiagnosis of atypical glandular changes, 2 had negative histology; 1 each had a uterine leiomyoma and endometrial hyperplasia. Of the 6 cases reported as adenocarcinoma, 3 were histologically confirmed, and the others were false positives. Conversely, 1 false negative case histologically was an endometrioid carcinoma. CONCLUSION: Our study revealed that reactive glandular cells are a cause of false positive diagnoses. Tamoxifen-associated cellular changes can mimic morphologic features of cancer. To avoid diagnostic errors, cervicovaginal smears should be repeated after discontinuing tamoxifen treatment. Clinical correlation is mandatory. Regular follow-up with cervicovaginal smears from patients on tamoxifen treatment is recommended.

Diagnostic dilemmas in fine needle aspiration cytology of an ectopic kidney: a case report.

BACKGROUND: Congenital anomalies are easily diagnosed on radiology and rarely have an unusual presentation requiring an invasive diagnostic procedure. Fine needle aspiration cytology (FNAC), though a well-established diagnostic technique for abdominal and retroperitoneal lesions, is fraught with several challenges and pitfalls. CASE: We report a case of a 39-year-old woman with an ectopic kidney presenting as an abdominal mass. On FNAC the cellular aspirate was misinterpreted as a paraganglioma or metastatic carcinoma. CONCLUSION: This case highlights the fact that on FNAC, normal cellular components, especially from the kidney, provide a significant pitfall for overdiagnosis, potentially resulting in unnecessary surgical explorations.

Epithelioid sarcoma of the foot with subsequent lesion in hand: metastatic lesion or second primary?

Epithelioid sarcomas (ES) are rare tumors of soft tissue that have a propensity to occur in the extremities. Epithelioid sarcomas are known to metastatise to draining lymph nodes and commonly to the lungs. Herein, a case of epithelioid sarcoma which recurred in an unusual site namely the distal phalanx of left middle finger, six months post amputation of the primary lesion in the left foot is being reported. The ipsilateral inguinal lymph node showed metastatic deposits. The tumor at both these sites had similar histology and an identical immunohistochemical (IHC) pattern showing reactivity to cytokeratin (CK), epithelial membrane antigen (EMA), vimentin (Vim) and CD34. This case is presented to record an unusual occurrence of ES in the distal phalanx of middle finger with an ES of foot. The metastasis of ES to the distal acral bones has not been documented till date.

Proximal-type epithelioid sarcoma--a rare, aggressive subtype of epithelioid sarcoma presenting as a recurrent perineal mass in a middle-aged male.

BACKGROUND: Epithelioid sarcoma (ES) is an uncommon soft tissue sarcoma. Lately, subtypes of ES, including proximal-type ES have been recognized, with relatively few reports on such cases. CASE PRESENTATION: A 47-year-old male presented with a perineal soft tissue mass that was excised elsewhere and the biopsy was submitted for a review diagnosis. On histology, a multi nodular tumor was seen comprising sheets of oval to polygonal cells with moderate amount of cytoplasm. Interspersed were larger, rhabdoid cells with abundant eosinophilic cytoplasm and prominent nucleoli. Focal necrosis was noted. A wide panel of immunohistochemical (IHC) markers was performed to rule out a range of differential diagnoses, including a poorly differentiated carcinoma, a melanoma and a variety of sarcomas with epithelioid differentiation. On IHC, the tumor cells showed a polyphenotypic expression, including positivity for epithelial markers i.e cytokeratin (CK), CK7, EMA and mesenchymal markers like vimentin and CD 34. Desmin was focally positive. CK20, CEA, S-100, HMB-45, SMA, LCA and CD31 were negative. A diagnosis of a proximal-type ES was formed. Six moths later, despite adjuvant chemo and radiotherapy (CT and RT), the patient continued to have the lesion and was referred again. In addition to the earlier histological features, sections from the persistent tumor mass showed an increased number of larger cells along with multinucleated tumor giant cells. CONCLUSION: The value of identifying this uncommon tumor from a list of differential diagnoses is in view of its aggressive behavior, as seen in our case. A wide excision with clear margins is imperative with options of post-operative CT/RT in individual cases during a close follow-up.

Fibromatosis-like carcinoma-an unusual phenotype of a metaplastic breast tumor associated with a micropapilloma.

BACKGROUND: Fibromatosis-like metaplastic carcinoma is a newly described metaplastic breast tumor, literature on which is still evolving. CASE PRESENTATION: A 77-year-old lady presented with a 2 x 2 cm mass with irregular margins in the upper and outer quadrant of left breast. Fine needle aspiration cytology (FNAC) from the lump was inconclusive. A lumpectomy was performed and sent for frozen section, which revealed presence of spindle cells showing mild atypia in a sclerotic stroma. The tumor cells revealed prominent infiltration into the adjacent fat. A differential diagnosis of a low-grade sarcoma vs. a metaplastic carcinoma, favoring the former, was offered. Final histology sections revealed an infiltrating tumor with predominant spindle cells in a collagenous background, simulating a fibromatosis. Adjacent to the tumor were foci of benign ductal hyperplasia and a micropapilloma. Immunohistochemistry (IHC) showed diffuse co-expression of epithelial markers i.e. cytokeratins (CK, HMWCK, CK7) and EMA along with a mesenchymal marker i.e. vimentin in the tumor cells. Myoepithelial markers (SMA and p63) showed focal positivity. A diagnosis of a low-grade fibromatosis-like carcinoma breast associated with a micropapilloma was formed. CONCLUSION: Fibromatosis-like carcinoma is a rare form of a metaplastic breast tumor. This diagnosis requires an index of suspicion while dealing with spindle cell breast tumors. The importance of making this diagnosis to facilitate an intra operative surgical planning is marred by diagnostic difficulties. In such cases, IHC is imperative in forming an objective diagnosis.

Comparative analysis of routine histology, immunohistochemistry, reverse transcriptase polymerase chain reaction, and fluorescence in situ hybridization in diagnosis of Ewing family of tumors.

CONTEXT: The Ewing family of tumors are often difficult to distinguish from other malignant small round cell tumors, but more than 90% have EWS-FLI1 chimeric transcript, which acts as a potential molecular diagnostic marker. OBJECTIVE: To do a comparative analysis of 32 cases with EWS-FLI1: Ewing family of tumors (n = 30), desmoplastic small round cell tumor (n = 1), and undifferentiated sarcoma (n = 1). DESIGN: The initial diagnosis was made on core biopsy (n = 22) and open biopsy (n = 4) specimens by using morphology and immunohistochemistry and on fine-needle aspiration cytology ([FNAC], n = 6) specimens. EWS-FLI1 was detected by reverse transcriptase polymerase chain reaction on all 32 fresh FNAC samples and by fluorescence in situ hybridization on 16 paraffin blocks. RESULTS: The 19 male and 13 female patients had bone (n = 19) or soft tissue (n = 13) tumors. Histologic groups were typical Ewing sarcoma (n = 15), atypical Ewing sarcoma (n = 4), Askin Rosai tumors (n = 5), desmoplastic small round cell tumor (n = 1), undifferentiated sarcoma (n = 1), and cases diagnosed as malignant small round cell tumors on FNAC (n = 6). All tumors except desmoplastic small round cell tumor and undifferentiated sarcoma were CD99 positive. EWS-FLI1 by reverse transcriptase polymerase chain reaction was noted in 15 cases of typical Ewing sarcoma, 4 cases of atypical Ewing sarcoma, 5 cases of Askin Rosai tumor, and no cases of desmoplastic small round cell tumor or undifferentiated sarcoma. With use of fluorescence in situ hybridization, EWS break was detected in 10 of 11 paraffin blocks used and was negative in desmoplastic small round cell tumor. CONCLUSIONS: The excellent correlation of routine histologic findings in Ewing family of tumors with results on immunohistochemistry and fluorescence in situ hybridization on archival material and reverse transcriptase polymerase chain reaction on fresh FNAC specimens underscores that the traditional observation on routine histologic examination is a time-tested tool. The diagnosis of Ewing family of tumors can be validated on archival material or fresh biopsy samples, including those obtained by FNAC.

Pure malignant myoepitheliomas of the breast: an immunohistochemical study.

Myoepithelioma of breast are extremely rare. We report two cases of pure malignant myoepithelioma of the breast, utilising light microscopic and immunohistochemical methods for diagnosis. Both the cases presented as breast lump. Hematoxylin and Eosin (H&E) stained microscopic sections revealed a predominantly spindle cell tumor. Immunohistochemical work up was done. Case number one expressed positivity for vimentin, Smooth Muscle Actin (SMA), S-100 and CD10. Case number two expressed positivity for Vimentin, CD10 and p63. This led to the diagnoses of malignant myoepithelioma in both of them. Documentation of such cases prospectively and from archival material, using immunohistochemistry, is of extreme importance to assess the prevalence, various phenotypic patterns, long-term biological behaviour and to establish management protocols for malignant myoepithelioma.

Renal angiomyolipomas--a study of 18 cases.

Angiomyolipoma is a distinctive neoplasm composed of an intimate admixture of three components, viz. mature adipocytes, smooth muscle cells and blood vessels. This study was undertaken to better define the various morphological patterns of angiomyolipoma and their immunohistochemical profile. The paraffin blocks and slides of 18 cases of renal angiomyolipoma, accessioned over a period of 8 years from Tata Memorial Hospital, were reviewed. There were 2 men and 16 women in the age range of 17 to 68 years. Pre-operative fine needle aspiration cytology (FNAC) was performed in 6 cases, of which 5 were erroneously diagnosed as renal cell carcinomal sarcoma. Histologically, 14 cases revealed conventional histology. The remaining 4 cases were particularly misleading posing diagnostic problems due to variant patterns (leiomyomatous variant-3 cases and epithelioid variant- 1 case). Apart from the usual histology, necrosis, giant cells, and varying degrees of nuclear pleomorphism were present in three of the cases. Immunohistochemistry performed in 16 cases revealed immunoreactivity for HMB45 in all the 16 tumors (100%), estrogen receptor (ER) and progesterone receptor ((PR) in 2 cases (12.5%) and 6 cases (37.5%) respectively.

Solitary extramedullary plasmacytoma of the premaxilla.

Solitary extramedullary plasmacytoma is a rare tumour with radiotherapy playing an important role in its management. This report describes the case history of a man with a solitary extramedullary plasmacytoma at an extremely rare site, the premaxilla, that posed certain diagnostic and therapeutic dilemmas. The patient underwent surgery followed by postoperative radiotherapy. The use of two modalities of treatment for this localized tumour has been justified by briefly reviewing the literature and defining the various prognostic factors. These prognostic factors in turn should guide the treatment of these uncommon tumours.

Proliferative lesions of the breast: carcinoma in situ.

Many breast carcinomas probably arise in a multi-step fashion through a series of intermediate lesions viz. ductal hyperplasia to atypical ductal hyperplasias to ductal carcinoma in situ (DCIS), and thence to invasive ductal cancer, each of which has a greater probability of becoming malignant than the one that preceded it. These precursor lesions have differing risk implications, hence treatment decisions vary with the risk. The heterogeneous lesions that come under the heading of hyperplasias and DCIS can cause problems for the histopathologists unless there is a conceptual understanding of the disease process. Since the surgical pathology report is the final word in cases of DCIS/LCIS, the pathologist becomes a vital partner in the decision making team.