Chordoma: diagnosis by fine-needle aspiration biopsy with histologic, immunocytochemical, and ultrastructural confirmation

Five cases of chordoma, diagnosed by fine-needle aspiration (FNA) biopsy, are presented. Four cases were histologically confirmed, and in one, immunocytochemical and ultrastructural studies were performed on both the aspirate and tissue specimen. Four cases presented as sacral masses, while in the fifth case, a destructive lesion of the clivus extended into the soft tissues of the lateral neck. A spectrum of cytomorphologic features was encountered including the presence of abundant microtissue fragments and cells in a dissociate pattern, often with abundant metachromatic extracellular matrix. Stellate and cuboidal cells often contained intracytoplasmic vacuoles of varying sizes. Intranuclear inclusions, mitotic figures, and anisonucleosis were prominent features of several cases. Immunoperoxidase studies on a single case demonstrated cytoplasmic staining for low- and high-molecular-weight cytokeratins, vimentin, and epithelial membrane antigen, while glial fibrillary acidic protein and carcinoembryonic antigen were negative. Ultrastructural features included the presence of mitochondrial endoplasmic reticulum complexes, occasional desmosome-like junctions, and abundant extracellular matrix adherent to the tumor cells. We believe the cytomorphologic findings are characteristic and, when taken in concert with immunocytochemical and ultrastructural studies, allow differentiation of chordoma from other primary or metastatic neoplasms occurring in bone. As demonstrated in our series, chordoma is often an unsuspected diagnosis. We believe that FNA biopsy of these lesions can lead to a correct preoperative diagnosis and may also be utilized to document recurrence and thus facilitate the evaluation and management of patients with these lesions.     

Localized primary amyloid tumor associated with osseous metaplasia presenting as bilateral breast masses: Cytologic and radiologic features

This report details the cytologic features of primary localized amyloid tumor of the breast presenting as bilateral breast masses in a 72-yr-old woman. Clinically and radiographically, the masses simulated metastatic or multifocal carcinoma. Fine-needle aspiration revealed irregular globules of acellular amorphous material and numerous multinucleated giant cells resembling granulomatous inflammation. Histology confirmed amyloid tumors with a foreign-body giant cell reaction in response to amyloid and foci of osseous metaplasia. Subsequent clinical workup included a serum electrophoresis and immunofixation which showed a small IgG k monoclonal protein. Urine immunofixation was negative for Bence Jones protein. Bone marrow examination revealed no evidence of a plasma cell dyscrasia. To date the patient has not developed clinical or laboratory evidence of systemic amyloidosis or multiple myeloma. Amyloidosis involving the breast and specifically localized primary amyloid tumors of the breast are rare and infrequently reported entities. To our knowledge, osseous metaplasia within isolated primary amyloid tumors of the breast has not been reported. We present this unusual case to illustrate the intratumoral calcification patterns mimicking carcinoma and to characterize the cytologic features. Emphasis is placed on the inclusion of amyloidosis in the differential diagnosis of breast masses.     

Cytological diagnosis of pulmonary nocardiosis in an immunocompromised patient

We report a case of pulmonary nocardiosis in an immunosuppressed patient having vasculitis who presented with fever, cough and chest pain. A suspicion of nocardiosis was made on auramine O staining of material procured by CT guided fine needle aspiration cytology right lung. Modified Ziehl-Neelsen staining was useful in confirming the diagnosis. The patient showed remarkable recovery after treatment with co-trimoxazole. Quick identification of this uncommon pathogen in the cytological material using special stains helped in timely diagnosis and successful treatment of the patient.     

The utility of ancillary studies in pediatric FNA cytology.

We evaluated the diagnostic contribution of adjunct studies performed on aspirated material in the work-up of pediatric fine-needle aspiration (FNA) biopsies. Ancillary studies were performed on 54 of 136 (39.7%) pediatric FNA biopsies during a 5-year period. In 23 (16.9%) cases, immunocytochemical (ICC) studies, consisting of immunoperoxidase staining of direct smears and/or cell blocks or flow cytometric immunophenotyping, were performed. The studies were adequate in 14 cases (60.9%), suboptimal in five cases (21.7%), and inadequate in four cases (17.4%). Of the adequate and suboptimal cases, the ICC data helped to narrow the differential diagnosis or classify the disease process in eight cases (42.1%), confirmed cytologic impression in nine cases (47.4%), and gave contradictory results in two cases (10.5%). Adequate material for electron microscopy (EM) was obtained in 14/19 cases (73.7%). Ultrastructural studies were diagnostic, or helped classify the disease process in five cases (35.7%), confirmed the cytologic impression in four cases (28.6%), helped exclude diagnostic considerations in three cases (21.4%), and were judged to be non-contributory in two cases (14.3%). Cytogenetic studies revealed six of seven cases (all neoplasms) to have abnormal karyotypes. Special stains for organisms performed on smears from 25 cases including Ziehl-Neelsen, Gomori methenamine silver (GMS), Gram, and Warthin-Starry (WS) were negative except for 1/16 GMS and 4/9 Gram stains. In summary, we found that with appropriate case selection, ancillary studies performed on aspirated material can provide useful information in pediatric FNA cytology.     

Extrarenal primitive malignant tumor with rhabdoid features: fine-needle aspiration cytology, immunocytochemistry, and electron microscopy of a case

We describe a malignant pelvic tumor with rhabdoid-like features that arose in the sacroiliac region of a 15-year-old girl. Fine-needle aspiration (FNA) cytology showed large cells with glassy cytoplasm, globular hyaline cytoplasmic inclusions, and prominent nucleoli. Immunocytochemical methods applied to FNA material revealed immunoreactivity for cytokeratin, epithelial membrane antigen, and vimentin; the cells failed to react with antibodies to desmin. This distinct appearance and phenotype was most consistent with a diagnosis of extrarenal malignant rhabdoid tumor. Electron microscopy confirmed this interpretation, showing whorled filamentous aggregates in the cytoplasm of the tumor cells.     

Malignant thymic neoplasms: diagnosis by fine-needle aspiration biopsy with histologic, immunocytochemical, and ultrastructural confirmation

Two cases of malignant thymic neoplasms diagnosed by transthoracic fine-needle aspiration (FNA) biopsy under fluoroscopic and computerized axial tomography (CT) guidance with histologic, immunocytochemical, and ultrastructural confirmation are presented. The clinical and cytomorphologic features of the first case were typical of a malignant thymoma. A characteristic biphasic cell population of benign epithelial cells and mature lymphocytes was seen in Diff-Quik- and Papanicolaou-stained smears from the anterior mediastinal mass and the paravertebral metastasis and was confirmed by histologic examination. Immunoperoxidase studies for T and B cell subsets demonstrated lymphocytes with the thymic lymphocyte phenotype (Leu 6). Electron microscopic (EM) examination revealed epithelial cells with desmosomal attachments, tonofilaments, and extended cell processes along with mature lymphocytes. FNA biopsy of the second case demonstrated features of a thymic carcinoma. Individually scattered and loosely clustered small groups of markedly anaplastic and pleomorphic large cells were seen both in the Diff-Quik- and Papanicolaou-stained smears. EM performed on the FNA specimen demonstrated the poorly differentiated epithelial nature of the malignancy. The mediastinal mass was partially resected and demonstrated an undifferentiated carcinoma staining positively for low-molecular-weight cytokeratin. Ultrastructure demonstrated cell attachments and relationships consistent with carcinoma. The lack of a lung or other extrapulmonary primary tumor was consistent with a thymic carcinoma. These cases demonstrate the value of performing EM and immunocytochemistry on material obtained by fine-needle aspiration, which can aid in establishing the correct diagnosis and facilitate the clinical management of patients with malignant thymic neoplasms.     

Ancient neurilemmoma: a pitfall in the cytologic diagnosis of soft-tissue tumors

A case of ancient neurilemmoma (Schwannoma) is presented that, owing to a severe cell pleomorphism, was falsely interpreted as a malignant spindle-cell sarcoma by fine-needle aspiration cytology. Cytological features of the tumor are given together with its histopathology and electron microscopy findings. The usefulness of electron microscopy on material obtained by fine-needle aspiration biopsies in the diagnosis of soft-tissue tumors is discussed.     

Glycogen-rich clear cell carcinoma of the breast: Report of a case with fine-needle aspiration cytology and immunocytochemical and ultrastructural studies

Fine-needle aspiration cytology, immunocytochemistry, and electron microscopic findings are described in a case of glycogen-rich clear cell carcinoma of the breast. the aspirate contained many small and large papillary cell groups and numerous single tall columnar cells with apical cytoplasmic projections and mild to moderate degree of nuclear pleomorphism. Cytochemical localisation of glycogen and immunostaining on air-dried smears with CEA and actin monoclonal antibodies permitted the correct identification and differential diagnosis of the tumor. Electron microscopic examination of the resected specimen confirmed the diagnosis of glycogen-rich clear cell carcinoma. the differential diagnosis and potential diagnostic pitfalls are discussed, and recommendation are offered to prevent misdiagnosis.     

Insular carcinoma of the thyroid with uncommon cytologic features: anisokaryotic cells and microfollicles containing dense colloid

Insular carcinoma of the thyroid is a rare neoplasm, constituting less than 5% of all thyroid tumors. It was Carcangiu et al. who first described this tumor, which exhibits an intermediate biologic behavior between well-differentiated and undifferentiated follicular carcinomas, as a distinct clinicopathologic entity. A 63-year-old female patient with thyroid enlargement was admitted to our institution. Thyroid ultrasonography revealed a 5x4x3cm solid nodule within the right thyroid lobe. The fine needle aspiration was highly cellular; there were individual cells with naked nuclei, loose aggregates, cohesive clusters of follicular cells and infrequent microfollicles with round-oval nuclei containing finely granular chromatin, and scant cytoplasm. There were two uncommon findings not previously reported in the literature. The first one is anisokaryotic nuclei, and the second one is the presence of dense colloid in the center of microfollicles. The aspiration biopsy was reported as malignant. The patient underwent bilateral total thyroidectomy. Histopathologically, the lesion was diagnosed as insular carcinoma. We believe that in addition to the previously described cytopathologic findings, microfollicles with dense colloid core and anisokaryosis may be indicators of insular carcinoma in thyroid FNACs.     

Salivary gland anlage tumor: Cytologic features in a case examined by fine-needle aspiration

The cytologic features in fine-needle aspirates from a rare benign nasopharyngeal salivary gland anlage tumor in a newborn boy are described and commented on, regarding therapeutically important differential diagnoses. Diagn. Cytopathol. 16:518–521, 1997. © 1997 Wiley-Liss, Inc.     

Molluscum contagiosum and associations with atopic eczema in children: a retrospective longitudinal study in primary care

Background

Molluscum contagiosum (MC) is a common skin condition in children. Consultation rates and current management in primary care, and how these have changed over time, are poorly described. An association between the presence of atopic eczema (AE) and MC has been shown, but the subsequent risk of developing MC in children with a diagnosis of AE is not known.

Aim

To describe the consultation rate and management of MC in general practice in the UK over time, and test the hypothesis that a history of AE increases the risk of developing MC in childhood.

Design and setting

Two studies are reported: a retrospective longitudinal study of MC cases and an age–sex matched case-cohort study of AE cases, both datasets being held in the UK Clinical Practice Research Datalink from 2004 to 2013.

Method

Data of all recorded MC and AE primary care consultations for children aged 0 to 14 years were collected and two main analyses were conducted using these data: a retrospective longitudinal analysis and an age–sex matched case-cohort analysis.

Results

The rate of MC consultations in primary care for children aged 0 to 14 years is 9.5 per 1000 (95% CI = 9.4 to 9.6). The greatest rate of consultations for both sexes is in children aged 1–4 years and 5–9 years (13.1 to 13.0 (males) and 13.0 to 13.9 (females) per 1000 respectively). Consultation rates for MC have declined by 50% from 2004 to 2013. Children were found to be more likely to have an MC consultation if they had previously consulted a GP with AE (OR 1.13; 95% CI = 1.11 to 1.16; P<0.005).

Conclusion

Consultations for MC in primary care are common, especially in 1–9-year-olds, but they declined significantly during the decade under study. A primary care diagnosis of AE is associated with an increased risk of a subsequent primary care diagnosis of MC.     

Gangliocytic paraganglioma of the duodenum: report of cytologic, histologic, immunohistochemical, and ultrastructural features of a case

A case of gangliocytic paraganglioma of the duodenum is reported, including light microscopic, ultrastructural, and immunohistochemical characteristics. The cytologic appearance, as might be seen in fine-needle aspiration smears, indicates a neoplasm with three cellular components (epithelioid, ganglion, and spindle cells) seen histologically by light and electron microscopy.     

Mesothelioma with clear cell features: an ultrastructural and immunohistochemical study of 20 cases

Mesotheliomas with clear cell morphology are rare and only a few individual case reports have been documented in the literature. The author reports a series of 20 epithelioid mesotheliomas with clear features, 17 of which originated in the pleura and 3 in the peritoneum. Eighteen of the patients were men and 2 were women. Twelve patients had a history of asbestos exposure. Electron microscopy and special histochemical stains demonstrated that the cytoplasmic clearing seen in hematoxylin and eosin-stained sections resulted from multiple factors that can occur either singly or in combination. The most frequent cause of the cytoplasmic clearing was the accumulation of large amounts of intracytoplasmic glycogen. Another but somewhat less common factor was the accumulation of large amounts of lipid, which occurred alone or with glycogen. Other less common causes were marked mitochondrial swelling, the presence of numerous intracytoplasmic vesicles, and a large number of intracytoplasmic lumens. The value of immunohistochemistry in helping to distinguish epithelioid mesotheliomas from some carcinomas with clear cell morphology is emphasized. In addition, it was determined that because electron microscopy was decisive in establishing the cause of the cytoplasmic clearing in most of the cases, tissue for electron microscopy should routinely be procured for ultrastructural studies.     

Atypical plasmacytoid monomorphic adenoma of salivary glands of the tongue: Cytologic,histologic, immunohistochemical,and ultrastructural findings

We describe the case of an 11‐yr‐old boy with a 2.5‐cm‐diameter soft tumor superficially located at the dorsal aspect of the tongue. Fine‐needle aspiration cytology smears showed plump epithelioid cells with round to mildly oval nuclei and open chromatin. One or two nucleoli of intermediate size were noticed in each nucleus. These cells appeared singly or in small groups. The findings were interpreted as containing plasmacytoid cells coming from an adenoma of salivary gland origin. The histologic examination of the surgical specimen revealed noncohesive, pleomorphic polygonal cells combining plasmacytoid/rhabdoid cytoplasmic features, with mild to moderate nuclear pleomorphism. One mitotic figure was observed per 10 high‐power fields. Immunoreactivity was strongly positive for vimentin and S‐100 protein, less intense for the cytokeratins, and negative for smooth muscle actin, muscle‐specific actin, myoglobin, and GFAP. No ultrastructural evidences of myogenous differentiation were found. We propose that this case represents an unusual atypical variant of plasmacytoid monomorphic adenoma. Diagn. Cytopathol. 1999;20:29–33. © 1999 Wiley‐Liss, Inc.     

Asteroid bodies and calcium oxalate crystals: two infrequent findings in fine-needle aspirates of parotid sarcoidosis.

We have studied 3 cases of sarcoidosis involving the parotid gland by means of fine-needle aspiration cytology (FNAC). The main findings were noncaseating granulomas, multinucleated giant cells (MGCs), and lymphocytes. In one case MGCs contained asteroid bodies and in another case we observed calcium oxalate crystals (COCs) over both stromal fragments and MGCs. Although nonpathognomonic for sarcoidosis, these 2 findings may help in the diagnosis of this condition. However, both are easily overlooked and must be borne in mind when viewing noncaseating granulomas. Sarcoid granulomas displaying COC must be differentiated from foreign-body granulomas. The aforementioned cytological findings must be assessed in conjunction with clinical findings. Nevertheless, in most cases the diagnosis of sarcoidosis is made by exclusion.     

Fine-needle aspiration cytology of soft-tissue calcinosis presenting as an enlarging mass in the chest wall

Calcinosis cutis is an uncommon condition, and calcific deposits in patients with end-stage renal disease are now somewhat rare, due to improvement in management. Since calcific deposits may clinically resemble a tumor, it is feasible to investigate them by fine-needle aspiration cytology (FNAC). A 52-yr-old male with a history of end-stage renal failure presented with a 2-cm mass in the left chest wall. Within 6 mo the mass enlarged to nearly four times its original size. In view of clinical suspicion of malignancy, FNAC was performed. Cytopreparations showed abundant calcium, indicative of soft-tissue calcinosis. The case is interesting, since the known history of end-stage renal failure enabled the FNAC diagnosis of soft-tissue calcinosis. Diagn. Cytopathol. 1998;19:465–467. © 1998 Wiley-Liss, Inc.     

Fine‐needle aspiration of brown tumor of bone: Cytologic features with radiologic and histologic correlation

We report the case of a 40‐year‐old man with tertiary hyperparathyroidism due to end stage renal disease who initially presented with acute‐onset paraplegia, elevated serum parathyroid hormone, and multiple bone abnormalities, including a large extradural intraspinal mass seen by magnetic resonance imaging. In contrast with imaging features, fine‐needle aspiration cytology showed numerous benign‐appearing multinucleated osteoclast‐type giant cells that are the characteristics of either brown tumor or benign giant cell tumor of bone. Sheets of mononuclear spindled stromal cells were also noted. A core‐needle biopsy confirmed the diagnostic features of brown tumor of hyperparathyroidism. Diagn. Cytopathol. 2009. © 2008 Wiley‐Liss, Inc.     

Cell populations in the lesion of human cutaneous leishmaniasis: A light microscopical,immunohistochemical and ultrastructural study

Summary To characterize the in situ cellular immune response in localized cutaneous leishmaniasis (LCL), the authors studied frozen skin biopsies from 50 patients with LCL due toLeishmania braziliensis guyanensis. A panel of 31 monoclonal antibodies was used, which defined the number and distribution of inflammatory cell subsets. Skin inflammatory infiltrates were composed of T cells (with a local CD4/CD8 ratio of 1.05±0.7 vs 1.48±0.3 in peripheral blood), macrophages and a smaller number of B cells, natural killer cells and granulocytes. Most of the T cells expressed activation markers (interleukin-2 and transferrin receptors, HLA-DR⁺) and an increase in T-cell-receptor expression was noted. Analysis of the CD4⁺ subpopulations with newly available reagents showed that helper T cells (CD4⁺CD45RO⁺) exceeded the suppressor/inducer subset (CD4⁺CD45RA⁺) by 1.41. There were no differences between local immune variables from patients with primary infection (45 patients) and those with recurrence (5). In 7 patients, biopsies were analysed before and 1 month after specific treatment, and did not show significant differences except for a small increase of dermal CD1a⁺ (Langerhans) cells/mm². The observed pattern of cellular skin infiltration suggests an immune-mediated tissue injury including T-cell-mediated cytotoxicity and delayed hypersensitivity reactions in addition to direct parasitic action.     

A correlative cytologic and histologic study of malignant fibrous histiocytoma: an analysis of 40 cases examined by fine-needle aspiration cytology

A correlative cytologic and histologic study of 40 cases of histologically highly pleomorphic malignant fibrous histiocytoma (MFH) is presented. The fine-needle aspiration biopsy was performed preoperatively, and a diagnosis of malignant soft-tissue tumor could be established in all cases. The cytologic and histologic features corresponded well with each other. The two main cell types were mono- and multinucleated, large polymorphic, often bizarre, histiocyte-like cells and atypical fibroblast-like cells. For a correct diagnosis of pleomorphic MFH, it is important to recognize atypical large polymorphic tumor cells showing signs of phagocytosis: prominent cytoplasmic vacuolization, cell debris or even well-preserved cells within the tumor cell cytoplasm. Phagocytic activity was easily demonstrated in air-dried and May-Grünwald Giemsa-stained material. The differential diagnosis of MFH as opposed to other soft-tissue sarcomas and pleomorphic carcinomas is discussed.