Esophageal rhabdomyosarcoma: report of a case diagnosed by imprint cytology

BACKGROUND: Primary esophageal rhabdomyosarcoma (PER) is a very rare neoplasm with only 15 cases reported in the literature. Of those, only 1 case underwent a preoperative cytologic evaluation. We report a case of PER with diagnosis by imprint cytology. CASE: A 55-year-old woman presented with dysphagia of 2 months' duration associated with fatigue and weight loss. Clinical and diagnostic imaging investigations revealed a large, submucosal mass lesion located in the lower part of the esophagus. A bite biopsy of the esophageal mass was performed under esophagoscopy. Two imprint smears were made from the biopsied tissue fragment and stained with the May-Grünwald-Giemsa method. The smears revealed abundant, pleomorphic, malignant cells with basophilic cytoplasm. Some spindle-shaped cancer cells showed intracytoplasmic cross-striations, indicating a pleomorphic rhabdomyosarcoma, as confirmed by histologic and immunohistochemical studies of the biopsied tumor tissue and resected tumor. CONCLUSION: The presence of pleomorphic malignant cells with intracytoplasmic cross striations is a characteristic feature of pleomorphic rhabdomyosarcoma.     

Cytology of pleomorphic lobular carcinoma with apocrine cell differentiation of the breast. A case report

BACKGROUND: Pleomorphic lobular carcinoma (PLC) with apocrine differentiation is a rare breast carcinoma, and its cytologic findings have not been reported before. CASE: A 75-year-old woman had a mass in and skin rash on the left breast. Apocrine carcinoma was suggested on aspiration cytology of the mass. The cytologic smears showed a small number of rounded to oval, atypical cells that were poorly cohesive and individually scattered. The cytoplasm was relatively abundant and contained coarse granules and dropletlike, orange granules (Lendrum's granules). The cell border was distinct. Some atypical cells had intracytoplasmic lumina. The nucleoli were round and prominent, and nuclear chromatin was finely granular. The background was clean. Histologically, the tumor cells proliferated mainly in an Indian file pattern and showed a concentric, targetoid pattern around the non-neoplastic ducts. The cytoplasm was abundant, eosinophilic, granular, positive for the periodic acid-Schiff reaction and diastase resistant. Immunohistochemically the tumor cells were positive for gross cystic disease fluid protein-15 (GCDFP-15) and negative for E-cadherin. Lendrum's granules showed positive expression of GCDFP-15 and lysozyme. CONCLUSION: PLC with apocrine differentiation and apocrine carcinoma may be cytologically confused. Poor cellularity, less cohesiveness, finely granular chromatin, a nonpolyhedral cellular outline and clean background indicate the former rather than the latter. It is important to be aware that PLC presents a variety of cytologic configurations.     

Intracytoplasmic lumina in medullary carcinoma of the thyroid gland. Report of a case with cytologic and immunocytochemical features

BACKGROUND: Intracytoplasmic lumina (ICL) have been observed frequently in breast carcinoma cells. However, they are extremely rare in thyroid gland tumors. We encountered a medullary carcinoma of the thyroid (MCT) with ICL and present a case with cytologic, immunocytochemical and ultrastructural features. CASE: A 15-year-old female was admitted with a left thyroid mass. Ultrasound examination revealed a well-defined tumor in the left lobe of the thyroid. Fine needle aspiration cytology showed mainly dispersed spindle cells with oval nuclei and some polymorphic or triangular tumor cells. The tumor cells containing ICL were noted at high magnification. The ICL contained sparse microvilli and abundant granular material with dense, round bodies on ultrastructural sections. Immunocytochemically, these tumor cells were positive for calcitonin and carcinoembryonic antigen (CEA). Moreover, CEA was recognized in the ICL with immunocytochemical staining. All tumor cells were negative for thyroglobulin. Pathologic examination confirmed the diagnosis of medullary carcinoma of the thyroid gland. CONCLUSION: MCT can include ICL with granular material containing CEA.     

Fine needle aspiration and touch imprint cytology of a malignant fibrous histiocytoma of the spermatic cord. Case report

BACKGROUND: No cytologic reports on spermatic cord sarcomas have been published. CASE: A 64-year-old man presented with a slowly growing, painless, left spermatic cord enlargement. Fine needle aspiration (FNA) obtained < 1 mL of bloody fluid consisting of solitary, mark-edly anaplastic and pleomorphic tumor giant cells occasionally arranged in small fragments. Rare atypical spindle cells could be observed. Some reactive lymphocytes were observed intermingled with tumor cells. Immunohistochemistry displayed vimentin reactivity and negativity for keratins and leukocytic common antigen. The specimen removed showed a well-circumscribed, 30-mm, yellowish solid tumor. Touch imprints displayed pleomorphic tumor cells showing intense anisonucleosis; a moderate amount of clear, sometimes microvacuolated cytoplasm; and tissue fragments with a storiform pattern. Histologic examination revealed microscopic and immunohistochemical features of malignant fibrous histiocytoma (MFH) arising in soft tissues of the spermatic cord. CONCLUSION: FNA of a spermatic cord lesion may reveal a pleomorphic sarcoma. A pleomorphic appearance together with some spindle elements and compatible immunocytochemistry could help diagnose spermatic cord MFH. This is one of the few reports dealing with FNA cytology of paratesticular tumors and the first report, to the best of our knowledge, showing the cytologic characteristics of a case of spermatic cord MFH.     

Cytoarchitectural findings in the diagnosis of primary soft tissue tumors

OBJECTIVE: To review the major cytologic and architectural criteria in the diagnosis of primary soft tissue tumors, highlighting the importance of clinical correlation and the value of ancillary methods. STUDY DESIGN: Given the variety and complexity of clinicopathologic entities, the initial approach is based on pattern analysis. Six basic categories are established as a function of cell shape, stromal characteristics and resemblance to normal tissue. RESULTS: First, in myxoid-rich matrix tumors, special attention should be paid to lipoblasts, ganglion type, stellate cells and metachromatic fibrillar matrix. Second, in round cell tumors the following cytoarchitectural findings are of special interest: atypical rhabdomyoblasts, atypical lipoblasts, neuroblast rosettes, cytoplasmic glycogen, melanin pigment, islets of mature cartilage, hyaline cytoplasmic inclusions and fragments of connective tissue closely associated with round cells. Third, in spindle tumors the most important cytoarchitectural findings are: biphasic cellularity; elongated, buckled or wavy, tapered nuclei; nuclear palisades; straight, elongated, blunt-ended nuclei; melanotic pigment; storiform pattern; tissue fragments with collagen fibers or degenerated elastin; intracytoplasmic hyaline globules; and scattered spindle cells in a background of red blood cells. Fourth, in pleomorphic tumors specific typing is often difficult, if not impossible, since cells display few or no differential features. Fifth, in epithelial like cell tumors the cytologic findings of major diagnostic interest are: melanin deposits, crystalline inclusions, intracytoplasmic lumina, anisonucleosis and nuclear cytoplasmic inclusions. Last, in maturelike cell tumors, the architectural pattern resembles that of mature tissues. CONCLUSION: Although cytologic analysis of primary soft tissue tumors is hampered by the paucity of diagnostic findings, the establishment of clinicocytologic correlations, taking into account architectural patterns, cytologic details and clinical characteristics of the lesion, allows precise diagnosis of a significant number of tumors. Application of new techniques (immunocytochemistry, electron microscopy and cytogenetics) to cytologic aspirates has prompted a substantial reduction in the number of doubtful clinicocytologic diagnoses and considerably broadened the diagnostic spectrum.     

Low-grade cribriform ductal carcinoma in situ of the breast. Fine needle aspiration cytology in three cases.

This paper presents the cytologic features of fine needle aspiration biopsy specimens from three cases of ductal carcinoma in situ characterized by small and uniform tumor cells growing in a predominantly cribriform pattern without comedo necrosis (low-grade cribriform ductal carcinoma in situ). On cytology, most of the tumor cells were clustered in three-dimensional ductal structures. Occasionally in the clusters the tumor cells were seen bordering central lumina, quite similar to the architecture in histology. A few single tumor cells and no myoepithelium were seen. The background was clear or slightly hemorrhagic, without necrosis. The tumor cells were uniform and had a cylindroid shape, with round or oval nuclei. Morphometrically the mean largest nuclear diameter was 1.5-1.6 times that of a red blood cell. The chromatin was finely granular, with a minute nucleolus and slight condensation along the nuclear membrane. In cut sections all three tumors showed strong immunoreactivity for neuron-specific enolase. Unless the cribriform growth pattern is recognized in the smear, the cytologic diagnosis of this entity is difficult.     

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.     

Nf2/Merlin Controls Spinal Cord Neural Progenitor Function in a Rac1/ErbB2-Dependent Manner

Objective

Individuals with the neurofibromatosis type 2 (NF2) cancer predisposition syndrome develop spinal cord glial tumors (ependymomas) that likely originate from neural progenitor cells. Whereas many spinal ependymomas exhibit indolent behavior, the only treatment option for clinically symptomatic tumors is surgery. In this regard, medical therapies are unfortunately lacking due to an incomplete understanding of the critical growth control pathways that govern the function of spinal cord (SC) neural progenitor cells (NPCs).

Methods

To identify potential therapeutic targets for these tumors, we leveraged primary mouse Nf2-deficient spinal cord neural progenitor cells.

Results

We demonstrate that the Nf2 protein, merlin, negatively regulates spinal neural progenitor cell survival and glial differentiation in an ErbB2-dependent manner, and that NF2-associated spinal ependymomas exhibit increased ErbB2 activation. Moreover, we show that Nf2-deficient SC NPC ErbB2 activation results from Rac1-mediated ErbB2 retention at the plasma membrane.

Significance

Collectively, these findings establish ErbB2 as a potential rational therapeutic target for NF2-associated spinal ependymoma.     

Intranuclear inclusions in fine needle aspirates of bronchial low grade mucoepidermoid carcinoma with clear cell change: a report of two cases

BACKGROUND: Mucoepidermoid carcinoma of the bronchus is a rare neoplasm that can be recognized on histology as well as cytology by the presence of three characteristic cell types: mucus secreting, epidermoid and intermediate. We encountered two cases displaying unusual cytologic features, including clear intranuclear inclusions. CASES: Two females, aged 33 and 39, presented with an intrabronchial tumor and pulmonary parenchymatous mass, respectively. Fine needle aspiration of both tumors showed similar cytologic features, with a dominant population of cells with bland nuclei and wide cytoplasm, and frequent intranuclear inclusions. A minor component of mucus-secreting cells was also recognized. Histologically, both tumors corresponded to the clear cell variant of mucoepidermoid carcinoma. CONCLUSION: The cytologic picture in our cases has not been described previously in fine needle aspirates of mucoepidermoid carcinoma, in neither the bronchus nor salivary gland. The differential diagnosis of a monotonous population of epithelial cells with intranuclear inclusions involves bronchioloalveolar carcinoma, but the absence of the characteristic sheet pattern, as well as the clinical and image findings, excludes this possibility. The lack of atypia and intrabronchial location limits the scope to carcinoid and salivary gland-type tumors of the bronchus. Since we were aware of the possibility of unusual cytologic presentations of mucoepidermoid carcinomas, search for different cellular populations suggested the precise diagnosis.     

Cytologic features of functioning stromal cells in a yolk sac tumor of the ovary. A case report

BACKGROUND: Functioning stromal cells are sometimes seen in primary and metastatic ovarian neoplasms. However, the cytologic features of functioning stromal cells have been described only rarely. CASE: A 19-year-old woman had an alpha-fetoprotein-producing ovarian yolk sac tumor with functioning stroma. Her preoperative serum testosterone level was elevated. Imprint cytology showed that the functioning stromal cells had centrally located nuclei with low nuclear/cytoplasmic ratios. Occasionally these cells had vacuolated cytoplasm, suggesting the presence of lipids. In sharp contrast, the yolk sac tumor cells had more pleomorphic and hyperchromatic nuclei. We were able to distinguish between neoplastic and functioning stromal cells on the basis of these findings. In addition, immunostaining for inhibin on imprint cytologic slides was of great help in identifying functioning stromal cells. CONCLUSION: Because functioning stromal cells may unexpectedly induce hormonal effects in a variety of ovarian tumors, it is important to identify such cells in cytologic specimens.     

Fine needle aspiration cytology of epithelial-myoepithelial carcinoma of salivary glands. A report of three cases.

BACKGROUND: Epithelial-myoepithelial carcinoma is a rare, low grade malignant tumor of the salivary glands. Histologically, it has a biphasic cellular composition and exhibits a high degree of differentiation. The fine needle aspiration cytology of this rare tumor is rarely described in the literature. CASES: We report the fine needle aspiration cytology of three epithelial-myoepithelial carcinomas, arising in the right parotid, left parotid and minor salivary gland of the hard palate. Cytology showed a biphasic population consisting of cells of ductal epithelial and myoepithelial origin arranged in small clusters and sheets. The myoepithelial cells had small, uniform nuclei; ample, clear cytoplasm and distinct cell borders, while the ductal epithelial cells had larger, mildly pleomorphic nuclei and scanty cytoplasm. These ductal cells tended to form tubules among background sheets of clear myoepithelial cells. This feature, if present, was an important diagnostic clue. Hyaline material surrounding cell clusters and focal adenoid cystic carcinoma-like areas with orangeophilic globules were also not uncommon. CONCLUSION: While the cytologic appearance of epithelial-myoepithelial carcinoma may closely mimic that of other salivary gland tumors, such as adenoid cystic carcinoma, pleomorphic adenoma and basal cell adenoma, certain peculiar cytologic features may allow a distinction to be made on fine needle aspiration biopsy.     

Adult-type rhabdomyoma of the palate. Cytologic presentation of two cases with histologic and immunologic study

The cytologic presentations of two adult-type rhabdomyomas of the soft palate are reported. Fine needle aspiration smears of the lesions contained globular tumor cells that had striations and intracytoplasmic rod-shaped inclusions. These inclusions, corresponding to hypertrophied Z bands, were pathognomonic of rhabdomyoma tissue. The cytologic diagnosis was confirmed by histologic and immunologic studies in both cases. The cytologic preparations fixed in alcohol or air dried did not show the "spiderweb cells" observed in the histologic sections of tissue fragments fixed in formaldehyde; this clearly illustrates that the morphology of the cells of this tumor depends primarily on the specimen preparation technique used. These cases suggest that aspiration cytology can establish the diagnosis of this benign tumor of striated muscle, for which total surgical removal is usually sufficient to effect a cure. The differential diagnosis is discussed in detail.     

Fine needle aspiration cytodiagnosis of subcutaneous sacrococcygeal myxopapillary ependymoma. A case report.

A tumor located subcutaneously over the coccyx of a 32-year-old woman was diagnosed by fine needle aspiration (FNA) cytology as a myxopapillary ependymoma originating in the soft tissue. The FNA smears showed characteristic papillary structures, consisting of a central mucinous core surrounded by cuboidal-to-columnar cells, and scattered ependymal cells. The excised tumor was connected to neither the filum terminale nor the cauda equina. Histopathologic study confirmed the cytologic findings.     

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.     

Adult rhabdomyoma in fine needle aspirates. A report of two cases

BACKGROUND: Adult rhabdomyoma (ARh) is a rare, benign tumor arising most frequently in the head and neck region and sometimes mimicking malignant tumors clinically. Correct preoperative evaluation of this tumor is of crucial importance as its treatment is complete excision only and not radical surgery. CASES: Two patients with ARh, one tumor presenting near the submandibular gland and the other in the thyroid area, are reported. The first tumor was correctly diagnosed by fine needle aspiration cytology. The second, clinically suspected to be a colloid goiter, was preoperatively diagnosed as such cytologically as well. After the tumor was excised, reexamination of the cytologic specimen disclosed follicle cells admixed with single cells from ARh; these had been interpreted as colloid fragments at the time of primary evaluation. CONCLUSION: Fine needle aspiration evaluation of ARh may be problematic due to the rarity of the tumor and to the similarity of the tumor cells to normal striated muscle and to other tumors in which cells with abundant granular cytoplasm are characteristic. With an awareness of the cytologic features of this uncommon tumor, cytopathologists can render a correct diagnosis.     

Development of intracytoplasmic lumina in diethylnitrosamine-induced tracheal papillomas of Syrian golden hamster

Tracheal papillomas in the Syrian golden hamster were induced with diethylnitrosamine (DEN). Intracytoplasmic lumina filled with mucus were studied by light and electron microscopy. The sequence of lumen genesis is described ultrastructurally. Mucus substances in the center of intracytoplasmic lumen are presumed to be condensations of cell coat macromolecules. The intracytoplasmic lumen is discussed as a common feature of the adenoid component in epithelial neoplasms.     

Cerebrospinal fluid cytology in immature teratoma of the central nervous system. A case report

The present case shows the usefulness of cerebrospinal fluid (CSF) cytology in the diagnosis of leptomeningeal dissemination by immature teratoma. The tumor arose in the thoracolumbar spinal cord of a 14-year-old male. The initial histopathologic diagnosis was made on the tumor tissue taken at laminectomy. Postoperatively, CSF cytology revealed epithelial cell clusters, scattered squamous epithelial cells and small bundles of striated muscle fibers in the background of many histiocytes and inflammatory cells. Although these cells showed only slight cytologic atypia, their presence in the subarachnoid space suggested the leptomeningeal spread of well-differentiated portions of the immature teratoma. The postmortem examination revealed the primary tumor in the spinal cord and multiple metastatic nodules in the brain.     

Testicular germ cell tumors. Classification based on fine needle aspiration biopsy

Fine needle aspiration (FNA) biopsy was performed preoperatively on 13 patients with testicular germ cell tumors. The cytologic typing of the tumors was based on the presence or absence of seminoma, embryonal carcinoma, yolk-sac tumor, choriocarcinoma and teratoma in the aspirate. The cytologic findings showed good agreement with the histologic findings. Only four cases showed a single type of tumor; the other nine cases showed as many as four different tumor components. A few characteristic cytologic features proved to be sufficient for tumor typing; this suggests that FNA biopsy cytology can also be useful in identifying metastatic germ cell tumors in extra-gonadal sites.     

Fine needle aspiration cytology of well-differentiated liposarcoma. A report of two cases

BACKGROUND: Well-differentiated liposarcoma is difficult to diagnose on fine needle aspiration cytology (FNAC) smears and may create considerable diagnostic problems. CASES: Males aged 60 and 45 years presented with a swelling in the groin and retroperitoneal region, respectively. FNAC showed large cells with multilobulated nuclei and mature-looking fat tissue. A soft tissue tumor with bizarre cells was diagnosed cytologically in case 1 and liposarcoma in case 2. Histologically, both cases were diagnosed as well-differentiated sclerosing liposarcoma. CONCLUSION: The cytologic diagnosis of well-differentiated liposarcoma should be done with caution, and the sites should be taken into consideration. Deep-seated tumors with large, bizarre, giant cells should have wide excision as they recur more frequently.