Diagnosis of cervical thymoma by fine needle aspiration biopsy with flow cytometry. A case report

BACKGROUND: Cervical thymoma is a rare entity. To our knowledge, this is the 20th reported case of cervical thymoma and the fourth case of fine needle aspiration biopsy (FNAB) of this entity. To our knowledge, this is the only case in which cervical thymoma was a diagnostic consideration at the time of the FNAB diagnosis. The diagnosis was rendered because, unlike in previous cases, flow cytometric immunophenotyping was performed. CASE: A 46-year-old, white female presented with what was clinically thought to be a left thyroid nodule. The patient underwent FNAB at an outside institution, and the diagnosis of "possible mixed lymphoma" was made by morphology alone. The patient was referred to our institution for repeat FNAB. Based upon the cytologic findings (cells with lymphoid morphology), flow cytometry was performed, and a diagnosis of cervical thymoma (versus ectopic thymic tissue) was based upon flow cytometry findings combined with morphology. CONCLUSION: When FNAB of a cervical mass, particularly one clinically thought to be a thyroid nodule, shows lymphoid cells without thyroid follicular cells, immunophenotyping may be extremely helpful in arriving at the correct diagnosis.     

Nodular sarcoid myositis of skeletal muscle diagnosed by fine needle aspiration biopsy. A case report

BACKGROUND: Symptomatic striated muscle involvement in sarcoidosis is rare. Muscle biopsy is usually required for the diagnosis. Fine needle aspiration biopsy (FNAB) has been successfully used in diagnosing soft tissue lesions. To the best of our knowledge, FNAB of sarcoid myositis has not been reported. CASE: A 31-year-old, black female with a history of sarcoidosis presented with an enlarging, painful, left calf mass. Infected thrombi were suspected. FNAB showed numerous loosely arranged epithelioid histiocytes, multinucleated giant cells and skeletal muscle cells. The overall cytologic picture was that of granulomatous myositis. The cytologic features coupled with the patient's history and magnetic resonance imaging findings suggested sarcoid myositis. Subsequent muscle biopsy showing noncaseating granulomata and negative stains for organisms confirmed the diagnosis of nodular sarcoid myositis. CONCLUSION: Nodular sarcoid myositis can be suggested by FNAB cytology in a patient with a past history of sarcoidosis.     

Fine-needle aspiration biopsy cytology of cutaneous calcinosis in a 74-year-old woman with dermatomyositis on methotrexate therapy: a case report

BACKGROUND: Cutaneous calcinosis (CC) occurs in a variety of rheumatic diseases. Fine needle aspiration biopsy (FNAB) may be used in the office setting to evaluate such soft tissue lesions. For patients on methotrexate (MTX) therapy, methotrexate nodulosis (MN) should be considered in the differential diagnosis. CASE: A 74-year-old Caucasian woman with adult-onset dermatomyositis (ADM) on MTX therapy presented for evaluation of a right breast mass and multiple soft tissue nodules. FNABs of the right breast mass and a left upper extremity nodule both demonstrated benign calcified material. Six months later, the patient returned for evaluation of the persistent right breast mass and repeat FNAB revealed adenocarcinoma. Concurrently, a right hip soft tissue nodule was aspirated, demonstrating benign crystalline debris. MTX therapy was discontinued, and the patient subsequently underwent a lumpectomy of the right breast 1 month after FNAB diagnosis, displaying infiltrative ductal carcinoma. Of note, 2 months after her lumpectomy, MTX therapy was restarted and the patient continues to have adequate control of ADM symptoms with persistent, clinically benign soft tissue calcifications. CONCLUSION: Performing FNAB on soft tissue lesions can obviate needless tissue biopsies of CC in appropriate rheumatology patients, thus avoiding the risks and complications associated with more invasive procedures.     

Fine needle aspiration cytology of hepatic metastasis from a meningeal hemangiopericytoma. A case report

BACKGROUND: Hemangiopericytomas (HPCs) are rare spindle cell tumors, constituting 2.5% of soft tissue neoplasms. Few reports have addressed the fine needle aspiration (FNA) cytology of HPC. CASE: We describe the FNA biopsy (FNAB) findings in a 44-year-old patient with a previously resected meningeal hemangiopericytoma. The patient underwent ultrasound-guided FNAB of a 16.0-cm, radiographically heterogeneous density in the liver. The FNA smear showed crowded, ovoid to spindle-shaped cells with poorly defined, scant cytoplasm. The neoplastic cells were positive for CD34 and negative for CD31, factor VIII, glial fibrillary acid protein and cytokeratin AE1/AE3, supporting a diagnosis of HPC and compatible with metastasis from the patient's cerebral tumor. CONCLUSION: This case documents the role of FNA cytology in confirming HPC.     

Cytologic diagnosis of alveolar soft part sarcoma of the lower extremity by fine needle aspiration and correlation with core biopsy: a case report

BACKGROUND: Alveolar soft part sarcoma is a rare soft tissue tumor of uncertain origin that is generally slow growing but unmistakably malignant due to its propensity for metastasis to lung, bone and brain early in the course of disease. Fine needle aspiration biopsy (FNAB) of these tumors and recognition of the characteristic cytologic features precludes more invasive diagnostic measures and facilitates appropriate treatment. CASE: A 54-year-old African-American man presented to our institution with a 2-week history of left leg pain. Imaging studies revealed a left leg soft tissue mass just below the popliteal fossa and multiple bilateral lung lesions suggestive of metastatic neoplasm. FNAB of the left lower extremity mass yielded uniform clusters of cells and sigle cells with large nuclei and single prominent nucleoli. Histologically, the biopsy showed nests of large polygonal cells with abundant eosinophilic cytoplasm, round regular nuclei and prominent nucleoli. A periodic acid-Schiff (PAS) stain highlighted intracytoplasmic rhomboidal crystals, a feature diagnostic of alveolar soft part sarcoma. CONCLUSION: Alveolar soft part sarcoma may be diagnosed by its unique morphologic characteristics and should be considered in the differential diagnosis of all cytologically sampled soft tissue lesions.     

Sebaceous lymphadenoma identified by fine needle aspiration biopsy: a case report

BACKGROUND: Sebaceous lymphadenoma of the parotid gland is a rare benign neoplasm. This is the first reported case of fine needle aspiration biopsy (FNAB) findings for sebaceous lymphadenoma of the parotid gland. CASE: A 60-year-old male presented with painless, bilateral parotid swelling noted for 5 months. The swelling was more pronounced on the right. Examination revealed bilaterally prominent parotid glands with diffuse firmness but no discrete masses. There was no evidence of facial nerve dysfunction. Laboratory evaluation was negative for infectious and autoimmune etiologies. Magnetic resonance imaging revealed bilateral cystic parotid masses. FNAB of the right parotid was obtained to assist with preoperative counseling. It revealed lymphoid and salivary gland parenchymal cells. The patient underwent a right superficial parotidectomy. The surgical specimen of the parotid mass confirmed the diagnosis of sebaceous lymphadenoma on the tissue section. The contralateral parotid mass had not been excised at this writing. CONCLUSION: This report is the first to describe the FNAB findings of the unusual benign parotid neoplasm sebaceous lymphadenoma. Though the definitive diagnosis of any parotid mass requires tissue, generally obtained via parotidectomy, an FNAB diagnosis can be useful in counseling a patient prior to definitive biopsy.     

Metastatic balloon cell melanoma: a case report

BACKGROUND: The protean morphology of malignant melanoma is diagnostically challenging. Balloon cell melanoma is a histologic variant composed predominantly or entirely of large cells with abundant, vacuolated cytoplasm. It shares the cytologic features of the other subcategories of malignant melanoma, such as discohesion, nuclear pleomorphism and intranuclear cytoplasmic pseudoinclusions, but generally lacks melanin pigment and, as the name would suggest, is characterized by the presence of numerous cytoplasmic vacuoles. CASE: A 55-year-old man presented with an enlarged right cervical lymph node. Clinically and radiographically this mass was considered to be metastatic; however, the patient had no known primary neoplasm. Fine needle aspiration biopsy (FNAB) and cytologic examination showed numerous discohesive, variably sized, malignant cells with abundant, vacuolated cytoplasm and pleomorphic nuclei with irregular nuclear contours, macronucleoli and frequent intranuclear cytoplasmic pseudoinclusions. Pigment was not identified. These features, along with strong immunohistochemical positivity for S-100, HMB-45 and Melan-A, suggested the diagnosis of balloon cell melanoma. A right parotidectomy and lymph node dissection were performed, and histologic tissue evaluation confirmed the diagnosis. CONCLUSION: This case of lymph node balloon cell melanoma metastasis was diagnosed by FNAB.     

Fine needle aspiration biopsy of primary mucinous carcinoma of the skin: a case report

BACKGROUND: Primary mucinous carcinoma of the skin is a rare neoplasm of sweat gland origin. To date there are only 2 case reports in English describing its features on fine needle aspiration biopsy (FNAB). We describe an additional case and review the literature regarding this entity. To the best of our knowledge, this is the first reported case with a sentinel lymph node biopsy. CASE: A 78-year-old woman presented with a 3-cm left scalp mass at an outside institution. Following incomplete excision, multiple subcentimeter nodules developed in the skin adjacent to the biopsy site. FNAB of the nodules confirmed a recurrence of mucinous carcinoma. Clinical examination and extensive radiographic studies did not reveal primary disease elsewhere, thus supporting a diagnosis of primary mucinous carcinoma of the skin. At the time of wide excision of the residual tumor, sentinel lymph node biopsy revealed a single focus of micrometastasis. The patient declined adjuvant therapy and was disease free 6 months after the initial diagnosis. CONCLUSION: Cutaneous mucinous carcinoma is a tumor characterized by bland histocytologic features and abundant extracellular pools of mucin. Without a high index of suspicion, this rare entity may be overlooked or misdiagnosed. Numerous benign and malignant mucin-producing primary and secondary mimics exist, and immunohistochemistry offers limited benefits in differentiating them. Cytologic diagnosis of primary mucinous carcinoma of the skin is possible; however, correlation of clinical, radiologic and pathologic features is necessary to arrive at an accurate diagnosis.     

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.     

Fine needle aspiration appearance of extragastrointestinal stromal tumor. A case report

BACKGROUND: Gastrointestinal stromal tumors (GISTs) rarely develop outside the digestive tract and in the soft tissues of abdomen and retroperitoneum. Such tumors are designated extra-GISTs (EGISTs). Cytologic and immunocytochemical features of a case of EGIST are reported. CASE: A 54-year-old woman presented with a peritoneal mass, diameter 22 cm, adherent to the omentum and without a connection to the digestive tract. Fine needle aspiration biopsy (FNAB) of the excised tumor showed high cellularity in two patterns: monotonous spindle cells were intermingled with a mildly atypical epithelioid component. Immunocytochemistry performed on cytospins revealed reactivity for c-kit (CD117), CD34 and smooth muscle actin and negativity for S-100. The findings were concordant with a histologic diagnosis of EGIST. CONCLUSION: EGISTs are infrequent neoplasms and can be diagnosed in FNAB samples. The clinical/radiologic setting must be considered together with the cytologic features. Immunocytochemistry is a clue to the diagnosis when it detects c-kit reactivity.     

Adenomyomatous hamartoma of lung mimicking benign mucinous tumor in fine needle aspiration biopsy: a case report

BACKGROUND: Typical cytologic features of pulmonary hamartoma (PH) are usually smears of hyaline cartilage, fibrous tissue, smooth muscle, adipocytic components and respiratory epithelium. Cytologic features of adenomyomatous hamartoma, a special variant of PH, are not documented in the literature and are confused with epithelial neoplasm in the case of sparse stromal cellularity. CASE: A 59-year-old man presented with a solitary pulmonary nodule by chest radiograph at his routine health examination. Fine needle aspiration biopsy (FNAB) revealed numerous mucinous epithelial cells presenting predominantly in cohesive cellular sheets that suggested benign mucinous epithelial lesion. The patient underwent surgery for the tumor, and it was histologically proven to be an adenomyomatous hamartoma. CONCLUSION: An unusual type of PH could lead to misdiagnosis by FNAB in the case of few stromal components. This case demonstrates the wide spectrum of PH in FNAB and led us to consider PH as a differential diagnosis despite lack of chondromyxoid stromal components.     

Fine needle aspiration biopsy of precursor B-cell lymphoblastic lymphoma presenting as a sacral mass. A case report

BACKGROUND: Lymphoblastic lymphoma (LBL) is a high grade, aggressive neoplasm, usually presenting in children and young adults. Precursor B-cell LBL is uncommon and may present with cutaneous or, less likely, bone lesions. This case represents the first reported presentation of LBL as a sacral lesion and was only the second fine needle aspiration biopsy (FNAB) of LBL presenting as a bony mass. CASE: A 50-year-old man presented with a 3-month history of a 7 x 5 x 4-cm mass in the sacral region. The mass was radiologically described as an expansile one with lytic bone destruction. Diagnosis of a chordoma was radiologically favored. Computed tomography (CT)-guided FNAB, with flow cytometry and cytochemical staining, was used to make the diagnosis of precursor B-cell LBL. CONCLUSION: FNAB was instrumental in reaching this unusual diagnosis in a patient who was free of disease after chemotherapy.     

Cytopathologic features of pituitary carcinoma with cervical vertebral bone metastasis: a case report

BACKGROUND: Pituitary carcinomas are extremely rare tumors of the adenohypophysis. The presence of craniospinal and/or systemic extracranial metastases is the only reliable criterion for the diagnosis of pituitary carcinoma. To date, only 2 cases have been reported correctly by fine needle aspiration biopsy (FNAB). We present an additional case of pituitary carcinoma with FNAB features. CASE: A 60-year-old woman presented with clinical features of Cushing's disease and a pituitary tumor. She underwent transsphenoidal resection of the tumor. The initial diagnosis was an adrenocorticotrophic hormone (ACTH)-producing invasive pituitary adenoma. The patient presented again with neck pain 6 years after the operation. Magnetic resonance imaging revealed metastatic tumor masses at the level of C5-C6 of the cervical vertebrae. Intraoperative fine needle aspiration and incomplete excision of metastatic tumors were performed. Cytologically, tumor cells were composed of a combination of loose groups and single cells. Neoplastic cells had a relatively monotonous appearance and displayed characteristic neuroendocrine tumor features. Immunocytochemistry from cell block sections revealed AE1/ AE3, synaptophysin chromogranin A and ACTH positivity in the tumor cells. CONCLUSION: Pituitary carcinoma with extracranial systemic metastases demonstrates typical neuroendocrine features on fine needle aspiration. In the differential diagnosis, metastatic neuroendocrine carcinomas should be kept in mind. In the absence of sufficient clinical data, these 2 entities cannot be distinguished correctly through the cytologic features.     

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.     

Duodenal somatostatinoma of the ampulla of vater diagnosed by endoscopic fine needle aspiration biopsy: a case report

BACKGROUND: Duodenal somatostatinoma is a rare neuroendocrine neoplasm. A better prognosis can be obtained if these tumors are resected at an early clinical stage. Endoscopic punch biopsy has been the method most commonly used for the preoperative diagnosis of neuroendocrine duodenal tumors. To the best of our knowledge, endoscopic fine needle aspiration biopsy (FNAB) of duodenal somatostatinoma has not been reported before. CASE: A 41-year-old, black female presented with upper gastrointestinal bleeding as well as elevated bilirubin, liver enzymes and glucose. Computed tomography, esophagogastroduodenoscopy and endoscopic retrograde cholangiopancreatography (ERCP) detected a mass at the region of the ampulla of Vater partially obstructing the pancreatic duct. The initial punch biopsy yielded only intestinal mucosa. Subsequent endoscopic FNAB suggested the diagnosis of a neuroendocrine neoplasm, as confirmed by additional punch biopsies. Immunohistochemical and electron microscopic studies disclosed somatostatin production by the tumor, which was resected through a modified Whipple procedure. The patient recovered fully. CONCLUSION: This case demonstrates the usefulness of endoscopic FNAB in diagnosing submucosal gastrointestinal neuroendocrine tumors.     

Fine needle aspiration biopsy of mixed medullary-follicular thyroid carcinoma. A report of two cases

BACKGROUND: Mixed differentiated thyroid carcinomas are rare tumors, difficult to recognize on fine needle aspiration biopsy (FNAB). Most cases are diagnosed only after histologic investigation. CASES: The cases entailed two cytologic samples and a thyroidectomy specimen. Two FNAB thyroidectomy specimens from a 60-year-old man presenting with a solitary thyroid nodule (case 1) were investigated. Both cytologic samples were referred as atypical, with a mixture of features indicating a proliferating follicular lesion but also containing some characteristics of medullary carcinoma. The serum calcitonin level was borderline. Surgery was recommended because of a suspicion of malignancy. The diagnosis of mixed medullary follicular carcinoma was established after a complex histologic investigation. The tumor was encapsulated, with partly microfollicular architecture. Immunohistochemistry was positive for both calcitonin and thyreoglobulin. Electron microscopy from the formol-paraffin block found neurosecretory granules in many cells. The patient was well one year after the operation. One FNAB and thyroidectomy specimen from a 47-year-old woman with long-treated lymphoplasmocellular thyroiditis (case 2) was investigated. The tumor in case 2 was diagnosed on FNAB as medullary carcinoma. Only after histologic and immunohistochemical investigation was mixed differentiation proven. CONCLUSION: Mixed differentiated thyroid tumors are a diagnostic challenge on fine needle aspiration. Irrespective of their rarity, they can be suspected if combined features are present. FNAB recognition of the medullary component in both cases was of crucial importance. Nevertheless, definitive diagnosis remains a histologic problem due to the necessity for topographic information.     

Fine needle aspiration diagnosis of lymphomatoid granulomatosis. A case report.

The diagnosis of lymphomatoid granulomatosis (LG) of the lung depends on obtaining adequate histologic material to demonstrate the characteristic angioinvasive, polymorphous, lymphoid infiltrate and normally requires an open lung biopsy. Fine needle aspiration biopsy (FNAB), if only smeared directly, does not allow an assessment of the lymphoid infiltrate in relation to blood vessels. However, we report a case diagnosed by FNAB in which the specimen was processed by an alternative method that allows cell blocks to be made from all visible particles. Percutaneous FNAB of a nodular pulmonary infiltrate was performed after bronchoscopy and transbronchial needle biopsy failed to yield a diagnosis. The FNAB specimen was placed in 50% alcohol and submitted for processing. The specimen was then filtered through a fine sieve, and all visible tissue was embedded in bacteriologic agar and processed as a standard surgical specimen. The filtrate was processed as standard fluid cytology. The atypical, angioinvasive, lymphoid infiltrate was clearly demonstrated on the cell blocks, and the diagnosis of LG was made. This diagnosis was confirmed by subsequent open lung and skin biopsies.     

Cytologic profile of rhabdoid tumor of the kidney. A report of 3 cases

BACKGROUND: Malignant rhabdoid tumor of the kidney (MRTK) is a rare malignant neoplasm that usually presents as an abdominal mass. The histogenesis is uncertain, and cases outside the kidney have been reported. An association with separate primary tumors of primitive neuroepithelial origin occurring in the midline of the posterior or middle cranial fossa has been reported in approximately 15% of cases. CASES: Three patients, a 7-month-old girl and two boys, aged of 6 and 2 months of age, underwent fine needle aspiration biopsy (FNAB) for the diagnosis of renal masses. In 2 cases the smears revealed round to polygonal cells, singly or arranged in irregularly shaped clusters. The neoplastic cells did not differ much in shape and exhibited clear, empty nuclei with prominent nucleoli; the cytoplasm was abundant and sometimes eosinophilic. In the remaining case the aforementioned characteristics of the nuclei and cytoplasm were not as prominent, and sheets of fibrovascular stroma, with attached neoplastic cells, were seen. Diagnosis of MRTK was suspected in every case based upon morphology and immunocytochemistry; the diagnosis was histologically confirmed in the surgical specimens. CONCLUSION: MRTK may pose diagnostic problems due to its broad morphologic spectrum. Distinction from Wilms' tumor and clear cell sarcoma of the kidney is essential for therapeutic proposes. The results obtained in the FNAB study of these 3 cases demonstrate that diagnosis of MRTK may be proposed from fine needle aspiration smears using conventional methods together with ancillary ones (immunocytochemistry and electron microscopy).     

Fine needle aspiration cytology diagnosis of a cutaneous granular cell tumor in a 7-year-old child. A case report

BACKGROUND: Granular cell tumors are neoplasms of uncertain histogenesis, although a neural origin is favored. Most reports on the cytologic features of granular cell tumors have been on lesions from the breast or respiratory tract. However, there are only a few reports on fine needle aspiration (FNA) cytologic diagnosis of cutaneous or soft tissue granular cell tumors. CASE: A 7-year-old girl presented with a skin lesion on her right forearm of one year's duration. The FNA smears showed sheets and clusters of oval to polygonal cells with an abundant amount of granular cytoplasm. Many single, scattered cells with similar morphology were seen in the background. Immunostaining for S-100 protein showed granular cytoplasmic positivity. The tumor was diagnosed as a benign granular cell tumor. The histopathology report on the excised lesion confirmed the FNA diagnosis. CONCLUSION: The cytopathologic features of granular cell tumors presenting as skin lesions are distinctive enough to allow a correct diagnosis on FNA cytology.     

Fine needle aspiration biopsy of neuroendocrine breast carcinoma metastatic to the thyroid. A case report

BACKGROUND: Tumors showing neuroendocrine differentiation arise in a wide range of organs, and metastatic neuroendocrine tumors may be difficult to differentiate from primary tumors. This report describes an unusual case of metastatic breast carcinoma with neuroendocrine differentiation that presented as a solitary thyroid nodule. The diagnosis was made by fine needle aspiration biopsy (FNAB). CASE: A 52-year-old woman presented with a thyroid nodule and bilateral enlarged supraclavicular fossa lymph nodes. FNAB revealed a neuroendocrine carcinoma. Further questioning revealed that the patient had had a breast carcinoma resected eight years previously. The diagnosis of metastatic neuroendocrine breast carcinoma was established by immunocytochemistry. The patient received antiestrogen therapy but subsequently developed skeletal metastases. CONCLUSION: Neuroendocrine carcinomas from various sites show similar cytologic features. In this case, a diagnosis of breast carcinoma metastatic to the thyroid was suggested by the clinical history and confirmed by FNAB with immunocytochemistry.