Fine needle aspiration biopsy of epithelioid angiomyolipoma. A case report

BACKGROUND: Epithelioid angiomyolipoma (AMYL) is a variant of angiomyolipoma characterized by sheets of epithelioid cells that may mimic renal cell carcinoma. This is the first report describing the fine needle aspiration biopsy features of this lesion. CASE: A 47-year-old man with a history of epithelioid angiomyolipoma of the kidney treated with nephrectomy nine months previously presented with a recurrent retroperitoneal mass and multiple nodular liver lesions. Fine needle aspiration biopsy of one of the liver lesions showed fragments and sheets of noncohesive epithelioid cells with thin cytoplasm, markedly atypical nuclei, and scattered bizarre and multinucleated forms. The epithelioid cells focally expressed HMB-45 and were nonimmunoreactive, with epithelial markers. CONCLUSION: Epithelioid AMYL may pose differential diagnostic problems with high grade carcinoma, especially renal cell, hepatocellular and metastatic carcinoma. An awareness of this entity and its characteristic cytologic features and immunoreactivity with HMB-45 is helpful in its identification.     

Fine needle aspiration cytology of epithelioid angiosarcoma: a case report

BACKGROUND: Malignant vascular tumors are rare. Few studies have described cytomorphologic features of hemangioendothelioma and angiosarcoma on fine needle aspiration cytology (FNAC). Malignant vascular tumor with epithelioid morphology can create diagnostic difficulty, as the cytology may simulate that in other nonvascular malignant tumors. We describe epithelioid angiosarcoma, diagnosed on FNAC, in which a differential diagnosis of histiocytosis and inflammatory granulation tissue was considered. CASE: A 20-year-old man presented with forehead and scalp swellings. The forehead lesion was radiologiocally associated with a lytic lesion in the bone. FNA resulted in high cellular yield, and smears revealed prominent vascular pattern with endothelial cell atypia and histiocytoid/epithelioid neoplastic cells, occasional mitotic figures and a few cells displaying nuclear grooving. Smear background showed a significant number of neutrophils. Epithelioid hemangioendothelioma/angiosarcoma, histiocytosis and inflammatory granulation tissue were considered. A cytologic diagnosis of epithelioid angiosarcoma/epithelioid hemangioendothelioma was suggested and confirmed on histopathologic and immunohistochemical examination. CONCLUSION: Cellular aspirates from malignant epithelioid endothelial tumors involving bone may be cytologically mistaken for histiocytosis and, rarely, inflammatory granulation tissue. However, prominent vascular pattern with striking endothelial cell atypia, presence of mitotic figures and careful search for presence of endothelial differentiation are helpful in accurate cytologic diagnosis.     

Imprint cytology of extraskeletal mesenchymal chondrosarcoma of the perineum: a case report

BACKGROUND: Extraskeletal mesenchymal chondrosarcoma (EMC) is an uncommon soft tissue tumor, occurring mainly in the lower limbs, meninges and retroperitoneum. EMC of the female genital tract is extremely rare, and the cytologic literature is scarce. CASE: A 43-year-old female with a growing perineal mass underwent excision of the tumor. Pathologic examination of the rumor revealed a characteristic two-cell pattern of primitive small cells and cartilaginous tissue. A diagnosis of EMC of the perineum was made. Imprint cytology from surgical material showed a cluster of small round cells with a focal hemangiopericytomalike arrangement and islets of cartilage. The cartilaginous cells reacted with S-100 protein immunocytochemically. CONCLUSION: The characteristic features of EMC, a hemangiopericytomalike arrangement of small cells and S-100-positive cartilaginous cells, may be helpful in diagnosing EMC and differentiating it from other perineal tumors.     

Fine needle aspiration cytology of silicone lymphadenopathy in a patient with an artificial joint. A case report.

Three years after replacement of the left first metatarsophalangeal joint with a silicone prosthesis, a patient noted enlargement of a left femoral lymph node. Fine needle aspiration of the node revealed a foreign body giant cell reaction to particulates morphologically compatible with silicone elastomer. This finding suggests the potential utility of fine needle aspiration in the evaluation of patients' responses to a variety of foreign materials used in prosthetic devices and as pharmaceuticals.     

Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial

Background

Tuberous sclerosis (TS) is a rare autosomal dominant systemic disease with an estimated prevalence of 1/6000. Renal angiomyolipoma (AML) is a benign tumour with high morbidity frequently present in TS. The aim of the study was to test the effect of rapamycin in reducing the volume of AML in TS.

Methods

Twenty four-month prospective open-label, single arm, unicentre Phases II andIII study. The primary endpoint was to evaluate the effect of treatment on the reduction of at least 50% AML volume from baseline at 24 months. The secondary endpoints were: average tumour reduction, surgical complications, skin lesions and drug safety.The study population comprised 17 patients, aged >10 years who were diagnosed with TS and had ≥1 renal AML >2 cm of diameter and had a serum creatinine < 2mg/dl and urine protein/creatinine ratio < 22.6 mg/mmol. The trial was conducted at Fundació Puigvert. Rapamycin was given to achieve stable plasma levels between 4 and 8 ng/ml. AML volume was estimated using orthogonal measurements by MRI at baseline, 6, 12 and 24 months.

Results

Ten out of 17 patients were success responders for the main outcome ?58.8%, 95%CI: 32.9% to 81.6%-. After 6 months of therapy, the mean volume decrease was 55.18% (5.01 standard error (SE); p<0.001) and 66.38% (4.41 SE; p<0.001) at year 1. There was no significant decrease between year 1 and 2. According to RECIST criteria, all patients achieved a partial response at year 1 and all but two had already achieved this partial response after 6 months.The main analysis was performed according to the intention-to-treat principle analysis. Tumour volume was analyzed over time by means of mixed models for repeated measurement analysis. We used the baseline tumour volume as a covariate for the absolute change and percentage change from baseline data. The analysis was performed using SAS version 9.2 software, and the level of significance was established at 0.05 (two-sided).

Conclusions

This study show that mTOR inhibitors are a relatively safe, efficacious and less aggressive alternative than currently available options in the management of AML in TS.

Trial registration

EudraCT number: 2007-005978-30, ClinicalTrials.gov number: NCT0121712

     

Fine needle aspiration cytology of a pancreatic cyst in a patient with autosomal dominant polycystic kidney disease. A case report

BACKGROUND: Solitary cysts occur in approximately 10% of patients with autosomal dominant polycystic kidney disease (ADPKD), and fine needle aspiration cytology (FNAC) can be beneficial in evaluating complications related to the cysts and in excluding malignancies and other cystic lesions that can occur in these patients. CASE: FNAC was performed on a benign epithelial cyst in a symptomatic, 25-year-old, white female with ADPKD. The aspirate consisted of scattered small, flat groups of uniform epithelial cells arranged in a honey-comb fashion. CONCLUSION: To the best of our knowledge, this is the first FNAC report of a pancreatic cyst in ADPKD.     

Fine needle aspiration cytology of intraoral epithelioid hemangioma. A report of two cases

BACKGROUND: Epithelioid hemangioma (EH) is an uncommon, benign, vascular lesion of unknown etiology. The clinical differential diagnosis is broad and includes both epithelial and vascular neoplasms. In contrast to the histopathology of this lesion, the cytopathology, as obtained by fine needle aspiration biopsy (FNAB), has been described only once before. CASES: Two cases of EH of the oral cavity were evaluated by FNAB. The first case included histologic follow-up, while the second included immunohistochemical analysis of the aspirate material (cell block). The smear characteristics included cohesive epithelioid cells with moderate cytoplasm, ovoid nuclei and small nucleoli that formed occasional abortive vascular channels as well as spindle cell groups and a few larger cells with pleomorphic nuclei and irregular nuclear contours against a largely bloody background. Immunohistochemical staining for CD34 and factor VIII-related antigen confirmed the endothelial nature of these proliferations. CONCLUSION: The cytomorphology, an endothelial immunophenotype, and the appropriate clinical presentation should permit diagnostic consideration of EH in the differential diagnosis of an endothelial lesion.     

Fine needle aspiration cytology of primary proximal-type epithelioid sarcoma of the perineum: a case report

BACKGROUND: Epithelioid sarcoma is a malignant soft tissue tumor of unknown histogenesis. We describe the cytologic findings in a case of primary proximal-type epithelioid sarcoma of the perineum and results of an immunofluorescence analysis of rhabdoid cells from this tumor. To the best of our knowledge, the 3-color immunofluorescence features of proximal-type epithelioid sarcoma have never before been reported. CASE: An 8-cm-diameter mass with a 2.5-cm ulcer was found in the perineum of a 36-year-old man. After excision of the tumor, histopathologic examination of the resected specimen suggested a diagnosis of proximal-type epithelioid sarcoma. Fine needle aspiration cytology showed numerous rhabdoid cells with globular intracytoplasmic inclusions. A few isolated cells and polygonal cells were also observed in the smears. Three-color immunofluorescence analysis indicated that the intracytoplasmic inclusions in the rhabdoid cells were positive for cytokeratin, vimentin and CD34. The cytoplasmic staining pattern differed between rhabdoid and epithelioid sarcoma cells. CONCLUSION: Immunofluorescent staining of rhabdoid cells from a primary perineal proximal-type epithelioid sarcoma revealed an uneven distribution of cytokeratin in intracytoplasmic inclusions, with the highest concentration at the periphery of the inclusions.     

Fine needle aspiration cytology of primary epithelioid sarcoma. A report of 2 cases

BACKGROUND: Epithelioid sarcoma is a rare soft part tumor, the cytologic features of which have not been fully elucidated to date. We describe the cytologic features in 2 cases of primary epithelioid sarcoma with samples obtained by fine needle aspiration (FNA). CASES: Case 1 was a 50-year-old male who complained of a small mass in his left palm. Case 2 was a 56-year-old female who presented with a mass on the medial aspect of her right forearm. Preoperative FNA smears in both cases showed loose, aggregated and isolated tumor cells that were round to polygonal, with eccentrically located nuclei, against a background of inflammation and necrosis. The tumor cells showed moderate atypia, irregularity in size and many mitoses. In case 1 a presumptive diagnosis of epithelioid sarcoma was made by FNA cytology, while in case 2, FNA cytology revealed a high grade sarcoma with abundant matrix mimicking osteoids, difficult to differentiate from an extraskeletal osteosarcoma. CONCLUSION: Epithelioid sarcoma may be difficult to differentiate from an extraskeletal osteosarcoma in cases with abundant hyalinized collagen on FNA cytology.     

Sputum cytology in measles infection. A case report

A resurgence of measles, a highly infectious viral infection, has occurred in the United States. In this report the sputum cytology from a case of measles pneumonia is described and discussed. Only a few recent reports have described the cytopathologic changes of measles. Familiarity with the typical cytologic changes of measles will assist in the diagnosis of this infection.     

A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex

Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed subependymal nodules along the lateral walls of the lateral ventricles. The TSC1 and TSC2 genes were studied by PCR and direct sequencing of the entire coding region and exon-intron boundaries of these genes. A novel deletion mutation (c.1964delA) in the TSC1 gene exon 15 was identified, which was not present in his parents or 100 unrelated normal controls. This is the first report of this c.1964delA mutation of the TSC1 gene, associated with tuberous sclerosis complex, expanding the spectrum of TSC1 mutations that cause this disease.     

Exfoliative cytology of a lymphoepithelioma-like carcinoma in a cervical smear. A case report

BACKGROUND: Lymphoepithelioma-like carcinoma of the cervix (LELC) is cytologically identical to its counterparts at other sites, such as the nasopharynx. LELC can be suspected on a cervical cytologic smear. The differential diagnosis includes nonkeratinizing squamous cell carcinoma with prominent stromal inflammation, carcinoma with intense stromal eosinophilia, glassy cell carcinoma, malignant lymphoma (especially lymphoepitheloid-Lennerts lymphoma) and metastatic Schmincke-Regaud tumor. CASE: A 55-year-old female presented with an ulcerated endophytic tumor in the cervix. Exfoliative cytology showed uniform, large tumor cells, often associated with inflammatory cells, with round or oval nuclei and one or more prominent nucleoli. The cytoplasm was finely granular to flocculent, and the nuclei were uniformly vesicular. The chromatin was peripherally marginated. The cell borders were indistinct. There was no evidence of dyskeratotic or keratinized cells, koilocytes or glandlike formations. These findings were highly suspicious for LELC and were confirmed by biopsy. Flow cytometry showed DNA aneuploidy, with a DNA index of 1.08. In situ hybridization was negative for human papillomavirus 16 and 18. CONCLUSION: LELC of the uterine cervix has cytologic features that are sufficiently characteristic for a specific cytologic diagnosis. The diagnosis, nevertheless, has to be proven by histology.     

Aspiration cytology of heterotopic ossification. A case report.

Heterotopic ossification (myositis ossificans) is usually a posttraumatic reactive process involving new bone formation. This nonneoplastic process can be clinically and radiologically confused with osteosarcoma. A case of heterotopic ossification is reported in which cytologic material was obtained from a partially calcified thigh mass from a 17-year-old, athletic male. Aspiration cytology revealed numerous osteoclastic giant cells containing multiple plump nuclei. These cells were admixed in a benign-appearing stromal background composed of mature fibroblasts and were typified by elongated spindle cells. A small incisional biopsy showed new bone formation, osteoclasts, osteoblasts and fibroblasts consistent with maturing heterotopic ossification. Heterotopic ossification may be distinguished cytologically from osteosarcoma by the presence of numerous uniform benign stromal cells composed of mature fibroblasts and osteoclastic giant cells. The differential diagnosis may be more difficult in the early stages of this reactive and proliferative process. Adequate sampling of suspected heterotopic ossification by aspiration cytology may avoid surgery in a selected group of patients.     

Aspiration cytology of metastatic chordoma. A case report

A patient with previously diagnosed sacrococcygeal chordoma presented with multiple skin nodules. Cytologic examination of an aspirate from one of these nodules showed syncytial clusters of hyperchromatic cells surrounded by extracellular mucin. The characteristic physaliphorous cells, although present in a biopsy of the primary sacrococcygeal tumor, were not observed in the aspirate or on histopathologic examination of three excised skin metastases. That chordoma metastases may lack physaliphorous cells should be recognized.     

Fine needle aspiration cytology of epithelioid angiosarcoma. Report of a case with nuclear grooves and indentations

BACKGROUND: Angiosarcoma, because of its rarity and histologic diversity, has been a persistent challenge to cytopathologists. Epithelioid angiosarcomas are often confused with carcinomas, melanomas and other epithelioid sarcomas, both cytologically and histologically. Here we report the cytopathologic features of a case of epithelioid angiosarcoma with prominent nuclear grooves. CASE: A 61-year-old male visited the hospital with a neck mass. On fine needle aspiration the hypercellular smear, with a lymphocytic bloody background, showed variable-sized, round to oval, pleomorphic cells with frequent nuclear grooves, indentations and plump cytoplasm. The cells were diffusely scattered or loosely aggregated, with occasional acinar and cell-in-cell configuration. The case was diagnosed as epithelioid angiosarcoma on excisional biopsy. CONCLUSION: Whenever fine needle aspiration cytology, especially in the head and neck area, suggests malignancy composed predominantly of epithelioid cells, epithelioid angiosarcoma should be considered. The differential diagnosis should include metastatic tumors, such as carcinoma, melanoma and primary sarcoma. Nuclear grooves and indentations are 1 of the important diagnostic features of epithelioid angiosarcoma.