Cytology of desmoplastic medulloblastoma in imprint smears: a report of 2 cases

BACKGROUND: Desmoplastic medulloblastoma is a rare subtype of medulloblastoma with astroglial differentiation. The cytomorphologic features in intraoperative imprint smears from 2 cases of desmoplastic medulloblastoma are described. CASE REPORTS: A 22-year-old man and 27-year-old woman with a cerebellar tumor underwent craniotomy and tumor resection. The imprint cytologic smears contained cellular zones and nodular hypocellular areas containing astroglial and oligodendrogliallike elements. The cytology was misinterpreted as glial tumors, while the final histologic diagnosis in both cases were desmoplastic medulloblastoma. CONCLUSION: Desmoplastic medulloblastoma shows distinctive cytology in intraoperative smears. However, the occurrence of this rare type in adults and the presence of astroglial elements in imprint smears may cause a cytologic misinterpretation as gliomas.     

Paratesticular spindle cell rhabdomyosarcoma diagnosed by fine needle aspiration cytology: a case report

BACKGROUND: Spindle cell rhabdomyosarcoma is a rare, newly identified subtype ofembryonal rhabdomyosarcoma with improved behavior and a predilection for the paratesticular area. Fine needle aspiration (FNA) cytology findings of embryonal rhabdomyosarcoma have been described. However, there is no previous report on the cytologic findings of spindle cell rhabdomyosarcoma at testicular or extratesticular sites. CASE: A 13-year-old boy presented with a large, right sided scrotal mass. Fine needle aspiration (FNA) was performed for rapid diagnosis. The smears revealed numerous spindle cells and large fragments of cytoplasmic processes with cross-striations and were diagnosed as spindle cell rhabdomyosarcoma. The histologic sections were also diagnosed as spindle cell rhabdomyosarcoma. CONCLUSION: The cytologic findings of this rare tumor have not been reported before. The cross-striations were easily identified in FNA smears, so the diagnosis of spindle cell rhabdomyosarcoma was made confidently. The histologic sections showed only spindle cells with different patterns of arrangement, resembling leiomyosarcoma. The cross-striations were not identified in the histologic sections. In this case cytologic diagnosis aided the histologic diagnosis.     

Malignant phyllodes tumor metastatic to the lung with osteogenic differentiation diagnosed on fine needle aspiration biopsy. A case report

BACKGROUND: Osteosarcomatous differentiation in malignant phyllodes tumors is rare. No cases of either primary or metastatic lesions were identified in the literature that were initially diagnosed on fine needle aspiration biopsy. CASE: Cytologic and histologic findings of a metastatic malignant phyllodes tumor with osteosarcomatous differentiation in a 63-year-old woman are presented. This case was diagnosed initially on fine needle aspiration biopsy and confirmed with histologic examination of the pulmonary lesion. CONCLUSION: Although rare, the differential diagnosis of metastatic phyllodes tumor should be considered in the appropriate clinical setting when examining a pleomorphic spindle cell tumor with heterologous elements on fine needle aspiration biopsy.     

Fine needle aspiration cytology and core biopsy histology in infiltrating syringomatous adenoma of the breast. A case report

BACKGROUND: Infiltrating syringomatous adenoma is a rare tumor of the breast that can radiologically mimic invasive duct carcinoma. Detailed fine needle aspiration cytology and needle core biopsy findings on this lesion have not been previously described. CASE: The clinical, radiologic and pathologic findings of an infiltrating syringomatous adenoma of the breast in a 71-year-old female who presented with a subareolar lump are described. The cytology of the tumor was characterized by a combination of a background of plump, fibroblastoid cells and cohesive sheets of bland epithelial cells. Histologically the tumor showed infiltrating, duct-like structures with squamous metaplasia and a desmoplastic stroma. CONCLUSION: Fine needle aspiration cytology and needle core biopsy can distinguish infiltrating syringomatous adenoma from malignant disease of the breast.     

Metastatic minor salivary gland colloid carcinoma in the parotid region after parotidectomy for pleomorphic adenoma: a case report

BACKGROUND: Primary colloid or mucinous carcinoma of the salivary glands is extremely rare. Only a few cases have been reported that originated in the minor salivary glands. an even more exceptional presentation is as a metastatic tumor in the parotid region subsequent to superficial parotidectomy for pleomorphic adenoma. The case presented here posed a diagnostic dilemma that could be resolved only after a thorough reevaluation of the previous cytologic and histologic material and detection of the occult primary tumor in the hypopharynx following an extensive clinical and radiologic workup. CASE: A 75-year-old female underwent fine needle aspiration of the left parotid and was diagnosed as having pleomorphic adenoma. A superficial parotidectomy removed the tumor completely, and the diagnosis was confirmed. Six months following the surgery, the patient developed an enlarged nodular mass in the ipsilateral parotid region, with fine needle aspiration showing colloid (mucinous) adenocarcinoma, which proved to be a metastatic colloid (mucinous) carcinoma on excisional biopsy. The clinical and radiologic workup in search of a primary lesion led to an occult tumor in the left hypopharyngeal mucosa. CONCLUSION: Unusual presentations of rare tumors can cause considerable diagnostic difficulties to both the clinician and cytopathologist. Awareness of these rarities is important to ensure the best patient care and to avoid unnecessary investigative and therapeutic procedures.     

Intra-abdominal desmoplastic small round cell tumor

BACKGROUND: Intra-abdominal desmoplastic small round cell tumor is a rare malignancy with a predilection for young males. Unique histological and immunocytochemical features distinguish the tumor from other members of the family of small round cell tumors of infancy and childhood. The aggressive nature of tumor spread, relative insensitivity to chemotherapy, and generally incomplete resectability result in a very poor prognosis. The authors report a case of a 39-year-old man with diffuse abdominal and pelvic involvement of intra-abdominal desmoplastic small round cell tumor treated with aggressive chemotherapy and surgery. METHODS: Computed tomography (CT)-guided biopsy of an omental mass was performed. Histologically, discrete nests of uniform closely packed malignant cells were distributed in a background of focally desmoplastic stroma. Immunocytochemistry demonstrated positivity for epithelial, mesenchymal, and neural markers. On the basis of these unique histological and immunohistochemical characteristics, the diagnosis of desmoplastic small round cell tumor was made. The patient was treated with aggressive neoadjuvant chemotherapy consisting of a high-dose alkylator -based combination regimen, followed by surgery. RESULTS: The patient had a 10 to 15 percent regression in tumor mass in response to chemotherapy. Laparotomy revealed two large omental masses, another large mass adherent to the left colon and pelvic sidewall, and diaphragmatic, peritoneal and mesenteric studding with small nodules. Complete surgical resection was not possible. CONCLUSIONS: Intra-abdominal desmoplastic small round cell tumor remains an aggressive malignancy with an extremely poor prognosis. Although some response to chemotherapy may be possible, complete resection is rare, and surgical efforts are generally palliative.     

Intra-abdominal desmoplastic small round cell tumor

BACKGROUND: Intra-abdominal desmoplastic small round cell tumor is a rare malignancy with a predilection for young males. Unique histological and immunocytochemical features distinguish the tumor from other members of the family of small round cell tumors of infancy and childhood. The aggressive nature of tumor spread, relative insensitivity to chemotherapy, and generally incomplete resectability result in a very poor prognosis. The authors report a case of a 39-year-old man with diffuse abdominal and pelvic involvement of intra-abdominal desmoplastic small round cell tumor treated with aggressive chemotherapy and surgery. METHODS: Computed-tomography (CT)-guided biopsy of an omental mass was performed. Histologically, discrete nests of uniform closely packed malignant cells were distributed in a background of focally desmoplastic stroma. Immunocchemistry demonstrated positivity for epithelial, mesenchymal, and neural markers. On the basis of these unique histological and immunohistochemical characteristics, the diagnosis of desmoplastic small round cell tumor was made. The patient was treated with aggressive neoadjuvant chemotherapy consisting of a high-dose alkylator -based combination regimen, followed by surgery. RESULTS: The patient had a 10 to 15 percent regression in tumor mass in response to chemotherapy. Laparotomy revealed two large omental masses, another large mass adherent to the left colon and pelvic sidewall, and diaphragmatic, peritoneal and mesenteric studding with small nodules. Complete surgical resection was not possible. CONCLUSIONS: Intra-abdominal desmoplastic small round cell tumor remains an aggressive malignancy with an extremely poor prognosis. Although some response to chemotherapy may be possible, complete resection is rare, and surgical efforts are general palliative.     

Fine needle aspiration cytology of desmoplastic small round cell tumor. A case report.

BACKGROUND: Intraabdominal desmoplastic small round cell tumor (DSRCT) is a recently recognized type of primitive sarcoma characterized by a predilection for young males, a usually very aggressive course and generally unsuccessful therapy. A primitive histologic appearance with prominent desmoplasia and striking divergent multilineage differentiation are well-described morphologic features of this tumor, along with a consistent fusion of the EWS and WT1 genes at the molecular level. The cytologic literature contains only scattered references to this type of neoplasm. Detailed information on the clinical and fine needle aspiration (FNA) biopsy and the immunocytochemical and ultrastructural findings in a patient with DSRCT is presented. CASE REPORT: A 23-year-old male had a firm abdominal mass with multiple secondary lesions of the liver. An FNA biopsy was performed under ultrasonographic guidance. CONCLUSION: FNA of the liver nodules showed cohesive groups of small cells with hyperchromatic nuclei and inconspicuous nucleoli; immunocytochemically vimentin and desmin showed characteristic perinuclear globular positivity. FNA cytology is an effective means of diagnosing deeply located lesions. The cytologic features of DSRCT need to become familiar to pathologists and must be considered in the differential diagnosis of liver metastasis.     

Crystals of alveolar soft part sarcoma in a fine needle aspiration biopsy cytology smear. A case report

BACKGROUND: Alveolar soft part sarcoma (ASPS) is a rare soft tissue tumor. It has characteristic histomorphology, with typical ultrastructural features demonstrating unique crystalloids. It occurs predominantly in adolescents and young adults, in whom the most common location is within the fascial planes of skeletal muscle of the lower extremity. CASE: We present fine needle aspiration biopsy (FNAB) findings along with histopathologic features and ultrastructural appearance of a large gluteal mass in a 29-year-old female. FNAB cytology smears showed single and small groups of polyhedral malignant cells with granular cytoplasm, anisokaryosis and prominent nucleoli. The delicate cytoplasm had a tendency to rupture, with the presence of many bare nuclei. The characteristic crystals were observed in Papanicolaou-stained smears within the cytoplasm and in the background near the tumor cells. This consolidated the radiologic suspicion of ASPS and facilitated the application of relevant ancillary tests. Biopsy of the mass showed the characteristic histologic pattern. Electron microscopy confirmed the diagnosis with demonstration of membrane-bound, rhomboid crystalloids with a latticelike ultrastructure. CONCLUSION: Detection of characteristic crystalloids in Papanicolaou-stained FNAB smears facilitated a proper evaluation and correct diagnosis of ASPS.     

Fine needle aspiration cytology of follicular dendritic cell sarcoma. A case report

BACKGROUND: Follicular dendritic cell (FDC) sarcoma is a rare, recently described neoplasm that shows differentiation similar to that of follicular dendritic cells. It must be differentiated from metastatic neoplasms and other rare, nonlymphoid nodal lesions. CASE REPORT: A 76-year-old man underwent fine needle aspiration of a recurrent laterocervical mass. Sixteen months earlier, the original tumor was excised and proved to be an FDC sarcoma. Smears exhibited a dual cell population composed of large cells with abundant cytoplasm and a lymphoid component that consisted mainly of lymphocytes and plasma cells. Large cells were atypical and distributed in ill-defined groups and as single cells. Nuclei were round to oval and pleomorphic, with irregular contours and nucleoli. Binucleation and multinucleation were occasionally seen. After the cytologic diagnosis, the tumor was excised and showed typical histologic and immunophenotypic features of FDC sarcoma. CONCLUSION: The morphologic features of FDC sarcoma seem characteristic enough to permit its preoperative recognition. Its cytologic definition increases our knowledge of rare, nonlymphoid, primary nodal tumors, allowing better differentiation from metastatic neoplasms.     

Fine needle aspiration cytodiagnosis of leiomyosarcoma of the breast. A case report

BACKGROUND: Leiomyosarcoma of the breast is a rare tumor. Here we present a case in an elderly female in which the diagnosis was suggested from an aspirate sample. CASE: An 80-year-old female presented with an irregular, firm mass in the left breast of a few months' duration. In view of the clinical suspicion of a tumor, fine needle aspiration was performed. It showed a large number of dissociated cells and compact sheets of spindly and round cells with pleomorphic, hyperchromatic and anaplastic nuclei; mitoses; nucleoli; and somewhat-vacuolated, eosinophilic cytoplasm. Examination of the cell block, tumor tissue and immunostaining further suggested the cytologic impression of a leiomyosarcoma. CONCLUSION: Although leiomyosarcoma of the breast is very rare, fine needle aspiration cytology may allow the diagnosis to be suggested. Correlation with cell block findings and the application of appropriate immunostains as an adjuvant to standard cytologic and histologic stains may allow a more confident diagnosis.     

Cytologic diagnosis of primary adenocarcinoma of Bartholin's gland. A case report.

The cytologic and histologic findings in an extremely rare case of adenocarcinoma of Bartholin's gland are described. The tumor cells in scraping and fine needle aspiration smears were in clusters. The nuclei were oval to oblong, and some cells had a peripherally displaced nucleus. The chromatinic material was slightly increased, and some nuclei had prominent nucleoli. The cytoplasm was basophilic and abundant. Microcalcifications and psammoma bodies were numerous. The tentative diagnosis was primary adenocarcinoma of Bartholin's gland, based on the cytologic findings and location of the tumor. Similar findings were noted in the biopsy and surgical specimens.     

Cytomorphologic features of Merkel cell carcinoma in fine needle aspiration biopsies. A study of two atypical cases

OBJECTIVE: To report atypical cytomorphologic features in fine needle aspiration biopsies (FNABs) from two cases of Merkel cell carcinoma (MCC), a primary neuroendocrine neoplasm of skin. STUDY DESIGN: Retrospective review of FNABs with histologic correlation from six patients with MCC and a report of findings from two whose smears showed atypical features. RESULTS: Typically the aspirates produce highly cellular smears of loosely clustered and individual, relatively monomorphic, small tumor cells with round to oval, regularly contoured nuclei. In two of our cases, the tumor cell nuclei exhibited a spectrum of pleomorphism ranging from moderately complex nuclear membranes with cleaves, indentations and protrusions in one case to large, markedly bizarre, convoluted nuclei and multinucleate tumor cells in the extreme case. Both cases were primary neoplasms, and the diagnosis was based on clinical, histologic and immunohistochemical data. Additionally, electron microscopy was performed on the tumor with bizarre nuclei and demonstrated rare, dense core neurosecretory granules and paranuclear bundles of intermediate filaments.     

Fine needle aspiration cytology of the malignant variant of ossifying fibromyxoid tumor of soft parts: a case report

BACKGROUND: Ossifying fibromyxoid tumor (OFMT) of soft parts is a rare, recently defined, fibroosseous neoplasm, generally regarded as clinically benign; however, one-third of cases recur locally, and several malignant examples have been reported. Fine needle aspiration (FNA) cytology of the tumor is rarely described in the literature. We provide the first cytomorphologic study of the malignant variant. CASE: A 70-year-old man presented with an intramuscular mass in the right buttock. Computed tomography revealed ossification within the mass and multiple pulmonary nodules. FNA biopsy showed round and polygonal to spindled tumor cells, arrayed singly, cordlike or in small aggregates, with scattered dense stromal fragments and a slightly myxoid background. The nuclei showed significant pleomorphism accompanied by coarse chromatin with clumping, irregular contours, and one to two distinct nucleoli. The tumor cells were recognizable as sarcoma, with no evidence of high grade malignancy. The tumor was totally excised, histopathologically confirmed as the malignant variant of OFMT of soft parts, and immunohistochemically and ultrastracturally analyzed as of neural origin. CONCLUSION: The FNA specimen revealed that the cytomorphology was consistent with the histologic features of the malignant variant of OFMT, but several characteristic histologic parameters, such as multilobular proliferation and peripherally placed mature, bony trabeculae, were not reflected in the aspirates. Although FNA cytologic findings may be of limited diagnostic utility in OFMT, radiographic evidence of calcification/ossification suggests that OFMT should be subjected to differential diagnosis with fine needle aspiration biopsy of soft tissue tumors. Additional studies will be required for further clarification.     

Dermal analogue tumor of the salivary gland diagnosed by fine needle aspiration cytology. A case report

BACKGROUND: Dermal analogue tumor of the salivary gland is a rare form of salivary gland adenoma. Cytologic and histologic findings of 1 case are presented. CASE: A 74-year-old-female had a dermal analogue tumor in the parotid gland diagnosed by fine needle aspiration cytology (FNAC). Aspiration smears were characterized by aggregates of uniform epithelial cells, and cell groups bordered on thick, basement membrane-like material. The tumor was excised, and the histologic sections confirmed the cytologic diagnosis. CONCLUSION: Dermal analogue tumor of the salivary gland has a distinctive cytomorphologic appearance, and diagnosis of this neoplasm by FNAC is possible. Preoperative FNAC of salivary gland lesions is important in planning the most appropriate type of treatment.     

Retroperitoneal mesenchymal chondrosarcoma. Report of a case diagnosed by fine needle aspiration cytology

An unusual case of retroperitoneal mesenchymal chondrosarcoma diagnosed by fine needle aspiration (FNA) biopsy is described. CT-guided FNA of a mass arising in retroperitoneal soft tissues yielded an amorphous, myxoid material containing two distinct and separate populations of tumor cells. One was an undifferentiated, monomorphic, small cell component with granular cytoplasm and round central nuclei. The second population was an overtly malignant chondroid component scattered within an abundant myxoid matrix showing foamy cytoplasm, marked nuclear pleomorphism and frequent multi-nucleation. These cytologic findings were distinctive and similar to the histologic findings. The differential diagnosis and the possible pitfalls in the FNA diagnosis of this relatively rare tumor are discussed.     

Primary giant cell tumor of soft tissue. Report of a case with fine needle aspiration cytologic and histologic findings

BACKGROUND: So-called primary giant cell tumor of soft tissue of low malignant potential is the rare soft tissue analogue of giant cell tumor of bone, occurring primarily in superficial soft tissue. To our knowledge, the cytologic findings in bulky giant cell tumor of deep soft tissue were described only once, and no further report on the subcutaneous giant cell tumor could be retrieved from the literature. CASE: A 58-year-old woman presented with a well-demarcated, 1.5-cm-diameter dermal tumor. Fine needle aspiration smears contained numerous osteoclastlike giant cells and mononuclear cells showing bland and vesicular nuclei. A small fragment of branching vasculature and 1 mitosis were found. Those cytologic findings were enough to suggest a diagnosis of giant cell tumor of soft tissue, confirmed as a deep dermal giant cell on surgical resection. CONCLUSION: Primary giant cell tumor of soft tissue of low malignant potential should be considered in the differential diagnosis of bland-looking giant cell-rich lesions. Awareness of its existence and knowledge of its cytologic features are important for a correct preoperative cytologic diagnosis.     

Deep-seated congenital juvenile xanthogranuloma: report of a case with emphasis on cytologic features

BACKGROUND: Juvenile xanthogranuloma (JXG) is a rare, benign non-Langerhans cell histiocytosis that usually occurs in the head, neck or upper trunk of neonates and young children. Lesions appear most frequently as solitary cutaneous nodule, but in 12% of cases they are multiple and in 5%, subcutaneous or deep-seated. In 4% of cases they are systemic. Histopathologically, deep lesions tend to be more cellular and monotonous, with fewer Touton cells. Independent of its location, the prognosis is excellent, even after incomplete resection. The lesions usually resolve spontaneously within 3 years of diagnosis. CASE: A child was born with a large, deep-seated cervical mass that was initially evaluated by fine needle aspiration biopsy, which disclosed vague, granulomatous aggregates with monotonous, histiocytic CD68-positive cells. The surgical specimen histology revealed a JXG with skeletal muscle invasion. Complete reexcision was performed 2 months later after regrowth of the tumor. CONCLUSION: Deep-seated neonatal JXGs are infrequent and may demonstrate aggressive behavior. In this setting fine needle aspiration cytology is a useful tool for the initial differential diagnostic procedure and management.