Malignant teratoma of the thyroid with predominantly neuroepithelial differentiation. Fine needle aspiration cytologic, histologic and immunocytochemical features of a case

BACKGROUND: Teratoma of the thyroid in adults is extremely rare, and most are malignant. Only nine cases have been adequately documented in the English-language literature, and there are no reports detailing the fine needle aspiration (FNA) cytologic characteristics. CASE: A 32-year-old female presented with a left-sided nodular thyroid mass with left cervical lymphadenopathy. FNA cytology of the thyroid and lymph nodes was done. The cytologic and immunocytochemical features were that of a small round cell tumor with neuroepithelial (NE) differentiation, metastasizing to the cervical nodes. Microscopic study of the thyroidectomy specimen showed a tumor showing an NE pattern with occasional islands of squamous and cuboidal epithelium, leading to a diagnosis of malignant teratoma. CONCLUSION: Knowledge of FNA cytologic features of rare but highly malignant lesions like thyroid teratomas allow early recognition so that suitable and possibly aggressive treatment protocols can be adopted in the hope of prolonging survival.     

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 diagnosis of a nasopharyngeal teratoma

A newborn presented with airway obstruction due to a large nasopharyngeal mass extending into the oropharynx. A diagnosis of teratoma was made by transoral fine needle aspiration (FNA) biopsy and confirmed by subsequent histologic studies. The cytologic features of nasopharyngeal teratoma are presented, and the diagnostic utility of FNA biopsy in evaluating such lesions is discussed.     

Diagnosis of gastric glomus tumor by endoscopic ultrasound-guided fine needle aspiration biopsy. A case report with cytologic,histologic and immunohistochemical studies

BACKGROUND: The majority of glomus tumor are small, benign neoplasms that arise from modified smooth muscle cells. They usually occur in the dermis or subcutis of the extremities. However, rare cases have been reported in the visceral locations, most often in the stomach. CASE: A 32-year-old woman presented with episodes of right upper quadrant pain. She was found to have a gastric tumor that was biopsied at another hospital, where the diagnosis of gastrointestinal stromal tumor (GIST) was made. Endoscopic ultrasound (EUS) performed at our institution revealed a gastric submucosal tumor that was then biopsied by fine needle aspiration (FNA). Cytology revealed cohesive clusters of uniform, round, small cells with ill-defined cytoplasmic borders and scanty, amphophilic cytoplasm. Nuclei were round, with smooth nuclear membranes and evenly distributed, dusty chromatin. Intermingled with those epithelioid cells were small, short, spindled, normal endothelial cells. Immunohistochemical studies performed on cell block showed that the tumor cells were negative for CD34, CD117, chromogranin, synaptophysin, desmin and AE1/AE3 and were strongly positive for SMA, HHF-35 and collagen type IV. Glomus tumor was diagnosed and later confirmed by histology. CONCLUSION: EUS-guided FNA biopsy is efficient and permits adequate sampling for accurate diagnosis of gastric glomus tumor. Although rare, glomus tumor should be in the differential diagnosis among other gastric lesions, such as well-differentiated adenocarcinoma, epithelioid GIST and carcinoid tumor.     

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.     

Value of Repeating A Nondiagnostic Thyroid Fine-Needle Aspiration Biopsy

ObjectiveTo assess the value of repeating a biopsy when the initial thyroid fine-needle aspiration (FNA) biopsy is nondiagnostic.MethodsBetween 1990 and 2003, 4,311 thyroid FNAs were performed at the Cleveland Clinic Foundation, of which 220 (5%) were nondiagnostic. Among 189 patients whose medical records were available for retrospective review, 106 underwent a repeated FNA (FNA #2), and 14 had a second repeated FNA (FNA #3). Thyroid ultrasonography was used in the evaluation in 113 FNAs.ResultsThe first and second repeated FNAs were diagnostic in 58% (62 of 106 patients) and 50% (7 of 14 patients), respectively. The rate of malignant disease in patients with no repeated FNAs versus 1 or more repeated FNAs was 4.8% (4 of 83) versus 11.3% (12 of 106), respectively. Ultrasound-guided FNA yielded a diagnosis among 33 of 113 biopsies (29.2%), and FNA without ultrasound guidance provided a diagnosis in 30 of 159 biopsies (18.9%). Thus, the use of thyroid ultrasonography significantly improved the likelihood of establishing a diagnosis (P = 0.017). We found that repeating the FNA up to 2 times provides a diagnosis in up to 60% of cases.ConclusionThe overall prevalence of thyroid cancer in patients with nondiagnostic FNA is not trivial—8.5% in our study group of 189 patients. An aggressive approach toward nondiagnostic FNA biopsies is recommended, with performance of at least 2 repeated FNA biopsies, preferably with the help of ultrasound guidance. (Endocr Pract. 2007;13:735-742)     

Diagnosis of natural killer cell lymphoma by cytology and flow cytometric immunophenotyping. A case report

BACKGROUND: Natural killer (NK) cell lymphoma is a rare type of non-Hodgkin's lymphoma. It classically presents in the nasal region in Asian patients. There are few reports of its cytologic features. We describe a case that we diagnosed by fine needle aspiration (FNA) biopsy using flow cytometry immunophenotyping and cytomorphology. CASE: A 55-year-old, Chinese man presented with symptoms consistent with nasal obstruction. At examination, a polypoid lesion extending from the nose to the back of the throat was found. An intraoral FNA biopsy was performed. Representative smears were obtained and the remainder of the material sent for flow cytometry. A diagnosis of NK cell lymphoma was made. The patient was given chemotherapy and radiotherapy, with complete resolution of the lesion. Recurrence was noted on follow up seven months later. Pieces of tissue were taken for histology and flow cytometry and showed recurrent NK cell lymphoma. The lesion was again successfully treated by chemotherapy followed by radiotherapy. CONCLUSION: In the correct setting, a definitive diagnosis of non-Hodgkin's lymphoma can be made by FNA biopsy. This case of NK cell lymphoma was diagnosed by FNA biopsy using cytomorphology, flow cytometry immunophenotyping and clinical correlation.     

Aspiration biopsy findings in amyloid tumor of the cervical vertebra. A case report

BACKGROUND: The differential diagnosis of destructive lytic lesions of the spine includes amyloid tumors. The diagnosis of amyloid tumor with fine needle aspiration biopsy (FNA) is challenging. Previous reports of FNA of osseous amyloid tumors have detailed the cytologic appearance of amyloid along with lymphocytes, plasma cells and histiocytes, occasionally multinucleate or forming granulomatous lesions. CASE: An 84-year-old man presented with neck pain. Radiologic studies showed a destructive, lytic lesion of C-6, with a large, soft tissue mass. FNA yielded many acellular smears containing abundant amyloid that was confirmed with special stains of corresponding tissue cores and subsequent surgical biopsies. CONCLUSION: Osseous amyloid tumors are destructive, lytic lesions that mimic other processes. Amyloid can be distinguished from other substances in FNA samples and amyloid tumor identified, even when amyloid is present without typical cellular components.     

Pulmonary metastases from intracranial meningioma diagnosed by aspiration biopsy cytology

A case of rare extracranial metastasis from a recurrent intracranial meningioma is described. Incidentally discovered asymptomatic pulmonary metastases were diagnosed as meningioma by transthoracic fine needle aspiration (FNA) biopsy. The aspirate contained spindle-shaped tumor cells and other forms that seemed to correspond to the fibroblastic, syncytial and angioblastic areas seen in the histologic sections of the primary tumor. Cytomorphologically, metastatic meningioma appears to be sufficiently distinctive to permit its cytologic differentiation from other spindle-cell tumors. Although meningiomas metastasize rarely, this diagnosis should be considered in the interpretation of a transthoracic FNA biopsy of a pulmonary nodule or nodules in a patient with a history of recurrent intracranial meningioma, especially when the aspirate mainly consists of spindle-shaped neoplastic cells.     

Cytologic features of ovarian granulosa cell tumor metastatic to the lung. A case report

BACKGROUND: Granulosa cell tumor (GCT) of the ovary is an uncommon but not rare tumor, and the adult type usually affects postmenopausal women. The adult type of GCT has several characteristic clinicopathologic features, including a composition of small, uniform cells with Call-Exner bodies and an ability to metastasize to extrapelvic organs, even several decades after the initial operation. CASE: A 62-year-old female was incidentally found to have multiple shadows in the peripheral portions of both lung fields on roentgenography. She had a past history of oophorectomy for an ovarian carcinoma more than 20 years earlier. A transbronchial lung biopsy series was nondiagnostic. An aspirate obtained by transthoracic fine needle aspiration (FNA) biopsy revealed clusters of rather uniform, small cells with nuclear grooves, suggestive of a metastatic lung tumor. Histologic examination of the lung tissue in comparison with the previous oophorectomy specimen confirmed the impression of GCT metastatic to the lung. CONCLUSION: A preoperative diagnosis of metastatic lung tumor was established by transthoracic FNA cytology. The important cytologic criteria for the differential diagnosis are uniformity of tumor cells, coffee bean-like nuclear grooves and Call-Exner bodies. The possibility of late recurrence of this kind of tumor, even two or three decades after surgical resection, should be kept in mind.     

Metanephric adenoma vs. Wilms' tumor: a report of 2 cases with diagnosis by fine needle aspiration and cytologic comparisons

BACKGROUND: Metanephric adenoma (MA) is a rare benign renal neoplasm that can occur at any age, whereas, Wilms' tumor (WT) is the most common malignant renal neoplasm in children and is occasionally seen in adults. CASES: In case 1, a 26-year-old male had a left renal mass. Fine needle aspiration (FNA) showed 3-dimensional sheets of cells with nuclear overlapping, molding, irregular nuclear membrane and distinct nucleoli. Frequent mitotic figures could be seen. The cytologic differential diagnosis included Wilms' tumor, neuroectodermal tumor and metanephric adenoma. Nephrectomy revealed Wilms' tumor. In case 2, a 24-year-old female presented with erythrocytosis and a right renal mass. FNA showed small, uniform cells with smooth nuclear membrane, fine chromatin and inconspicuous nucleoli. A diagnosis of metanephric adenoma was made and confirmed on nephrectomy. CONCLUSION: Differentiating MA from WT based on cytologic features on FNA biopsy prior to surgical resection can he difficult.     

Fine needle aspiration biopsy in uveal melanoma

Fine needle aspiration (FNA) biopsies were performed in a series of patients with uveal tumors. Cytopathologic examination established the correct diagnosis in 26 of 29 uveal melanomas. FNA biopsy was able to exclude the diagnosis of a malignant neoplasm in five nonmelanoma tumefactions. Histologic and FNA cytologic typing of melanomas as epithelioid or predominantly spindle cell showed good agreement, with the same classifications made in 14 of 18 cases. FNA biopsy specimens also proved to be adequate for DNA-content and cell-cycling studies. The cessation of cell cycling in successfully irradiated melanomas may be useful in establishing the postradiation status of tumors that have questionable growths after therapy, as was shown using FNA samples in three such cases in this study. The results of this study show that FNA biopsy is a useful diagnostic adjunct in patients with atypical lesions that require therapy.     

Fine needle aspiration cytology of perineurioma. Report of a case with histologic, immunohistochemical and ultrastructural studies

The fine needle aspiration (FNA) findings are presented for a case of perineurioma, a benign soft tissue tumor composed of perineurial cells, which are epithelial-like and ensheath the endoneurial connective tissue space of nerve fibers. A subcutaneous FNA performed on a posterior thigh mass of a 14-month-old boy produced a specimen consisting of numerous spindle-shaped tumor cells with bipolar cytoplasmic extensions and occasional pseudosignet-ring cells in a prominent myxoid background. Cytologically, a diagnosis of benign myxoid tumor was made. Histologic examination of the resected tumor revealed the characteristic features that have been described for perineurioma; the diagnosis was confirmed with immunocytochemical and ultrastructural studies. Perneurioma should be included in the differential diagnosis of benign myxoid neoplasms seen in FNA biopsy specimens.     

Fine needle aspiration of the liver

A total of 81 transhepatic fine needle aspiration (FNA) biopsies were performed on 78 patients to rule out focal or diffuse neoplastic disease; 87.6% were performed with ultrasound guidance, 6.1% with CT guidance, 3.7% intraoperatively and 1 using fluoroscopy during percutaneous transhepatic cholangiography. Smears of the aspirated samples were cytologically evaluated with clinical and radiologic correlation; in addition, histologic examination of cell blocks was performed in 46% of the cases, ultrastructural examination in 34% of the cases and peroxidase-antiperoxidase staining in 3 cases. Ultrastructural definition of the type of malignancy was possible in 24 cases (29%). Minor complications in two patients were pain and tenderness at the puncture site. The sensitivity for malignancy was 91%, the specificity was 100%, the predictive value of positive results was 100%, and the predictive value of negative results was 73%. This series demonstrates that FNA biopsy with ultrasound guidance can provide an accurate diagnosis of malignancy and may preempt a lengthy workup in the search for a primary tumor.     

Fine needle aspiration of urethral recurrence of urothelial carcinoma after radical cystectomy presenting as a perineal mass: a case report

BACKGROUND: Recurrence of urothelial (transitional cell) carcinoma in the urethra after cystectomy for invasive urothelial carcinoma is relatively uncommon. It is also uncommon for the recurring urethral tumor to present as a painful perineal mass. Fine needle aspiration (FNA) can be used to evaluate such perineal lesions and confirm tumor recurrence. CASE: A 5-cm-diameter mass was found in the perineum of a 63-year-old man 1 year after radical cystoprostatectomy for invasive urothelial carcinoma of the urinary bladder. The mass was detected on pelvic computed tomographic scanning. FNA cytology showed numerous urothelial carcinoma cells of high grade displaying squamous cell differentiation mimicking the histopathologic findings of the primary tumor found on cystectomy. Diagnosis of recurrent urothelial carcinoma was rendered. The FNA in this case spared the patient an open biopsy. CONCLUSION: Mass lesions arising in the perineum of patients who underwent cystectomy for urothelial carcinoma should raise the suspicion of urothelial carcinoma recurrence. Evaluation of perineal masses for recurrence of urothelial carcinoma can be made on FNA without the need for open biopsy.     

Fine needle aspiration of extramedullary myeloid cell tumor in myelodysplastic syndrome. A report of three cases.

BACKGROUND: Soft tissue tumors are rare in myelodysplastic syndrome (MDS), and the role of fine needle aspiration (FNA) cytology in their diagnosis has not been explored. CASES: Two patients with refractory anemia with excess blasts in transformation (RAEB-t) developed soft tissue swellings during the course of the illness. In a third patient, soft tissue swelling was a presenting feature. The swellings in all three cases were diagnosed as extramedullary myeloid cell tumor (EMT) on FNA and showed increased blasts (10-14%), dyspoietic changes, Auer rods and monocytosis. CONCLUSION: Soft tissue tumors appearing in MDS are likely to be EMTs. FNA is therefore particularly valuable in their diagnosis as morphology, cytochemistry, immunophenotyping and flow cytometric analysis of hematopoietic cells are best studied on aspirated material. We suggest that FNA be preferred over excisional biopsy for the diagnosis of soft tissue swellings in MDS.     

Pancreatic metastasis of cardiac rhabdomyosarcoma diagnosed by fine needle aspiration. A case report.

BACKGROUND: Fine needle aspiration (FNA) is a valuable technique in the diagnosis of soft tissue tumors or their metastases. CASE REPORT: A rhabdomyosarcoma of the left atrium with metastasis to the pancreas was diagnosed by FNA in a 74-year-old female. The patient presented with dyspnea, weight loss and generalized weakness and was found to have a cardiac arrhythmia. Magnetic resonance imaging showed a 9-cm mass in the left atrium and anterior mediastinum. Computed tomography (CT) of the abdomen revealed a 2.8-cm nodule within the head of the pancreas. The patient underwent CT-guided percutaneous aspiration biopsy of the pancreatic mass on the first hospital day and, on the second day, transvenous FNA biopsy of the intracardiac mass. The cytologic morphology and immunocytochemistry of the aspirated material from both sites established a diagnosis of cardiac rhabdomysarcoma with metastasis to the pancreas. CONCLUSION: This is the fifth reported case of rhabdomysarcoma metastatic to the pancreas and the first in which the diagnosis was made by FNA, thereby eliminating the need for open biopsy.     

Desmoplastic small round cell tumour: Cytological and immunocytochemical features

BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive neoplasm. The cytological diagnosis of these tumors can be difficult because they show morphological features quite similar to other small round blue cells tumors. We described four cases of DSRCT with cytological sampling: one obtained by fine needle aspiration biopsy (FNAB) and three from serous effusions. The corresponding immunocytochemical panel was also reviewed. METHODS: Papanicolaou stained samples from FNAB and effusions were morphologically described. Immunoreaction with WT1 antibody was performed in all cytological samples. An immunohistochemical panel including the following antibodies was performed in the corresponding biopsies: 34BE12, AE1/AE3, Chromogranin A, CK20, CK7, CK8, Desmin, EMA, NSE, Vimentin and WT1. RESULTS: The smears showed high cellularity with minor size alteration. Nuclei were round to oval, some of them with inconspicuous nucleoli. Tumor cells are clustered, showing rosette-like feature. Tumor cells in effusions and FNA were positive to WT1 in 3 of 4 cytology specimens (2 out 3 effusions and one FNA). Immunohistochemical reactions for vimentin, NSE, AE1/AE3 and WT1 were positive in all cases in tissue sections. CONCLUSION: The use of an adjunct immunocytochemical panel coupled with the cytomorphological characteristics allows the diagnosis of DSRCT in cytological specimens.