Fine-needle aspiration diagnosis of synovial chondromatosis of the tibiofibular joint

We report a case of synovial chondromatosis of the tibiofibular joint in a 25-year-old woman that was diagnosed by fine-needle aspiration (FNA). The patient presented with pain in the left knee and a mass in the popliteal fossa. Synovial chondromatosis usually presents with joint symptoms and is often associated with intra-articular loose bodies, whereas presentation as a soft tissue mass is unusual and may raise the clinical suspicion of malignant neoplasm. The diagnosis is commonly confirmed by histopathologic examination of biopsy or excision of the specimen. To the best of our knowledge, this is the first case of synovial chondromatosis of a large joint successfully diagnosed by FNA. Two cases of synovial chondromatosis of the temporomandibular joint have been reported in which the diagnosis was suspected on the basis of FNA. In both these cases, the final diagnosis was established by histopathology of the excised specimens.     

Systemic malignant lymphoma presenting as bilateral exudative retinal detachment

Summary A 52-year-old male patient presented with a sudden painful loss of vision in both eyes. Ophthalmological examination revealed bilateral uveitis and marked bilateral nonrhegmatogenous retinal detachment near the optic disk. Systemic workup demonstrated IgM paraproteinemia. Abdominal ultrasound and computed tomographic studies revealed enlarged adrenal glands and irregular masses in the right hepatic lobe. Immune electrophoresis and multiple biopsy specimens established the diagnosis of systemic polymorphous immunocytoma. Polychemotherapy of this B-cell-derived type of non-Hodgkin's lymphoma led to a rapid remission and fast reduction of serous retinal detachment. We believe this is the first case of bilateral exudative retinal detachment as the initial ocular manifestation of systemic malignant B-cell lymphoma.Abbreviations Ig A Immunglobulin A - Ig M Immunglobulin M - qd every day - OD right eye - OS left eye - CT computerized tomography     

Osteosarcoma metastatic to adrenal gland diagnosed by fine-needle aspiration

Osteosarcoma, a primary malignant tumor of the long bones, frequently metastasizes to the lungs. We report an unusual case of osteosarcoma metastatic to the right adrenal gland in a 37-yr-old male who presented 8 yr after remission with an adrenal mass. A preoperative diagnosis was made by fine-needle aspiration (FNA) biopsy. FNA biopsy revealed pleomorphic oval cells with prominent nucleoli, spindle cells, and giant tumor cells. Diagnostic osteoid was readily seen on smears and was also detected by polarization of cell-block section. Immunocytochemical stains revealed positivity of tumor cells for vimentin and osteonectin. Cytokeratin stains were negative. The cytologic diagnosis of metastatic Osteosarcoma was made, which was later confirmed upon resection of tumor by histology. Although the role of FNA in the diagnosis of primary bone tumors, including osteogenic sarcoma (OGS), remains controversial, this case, however, demonstrates the value of FNA biopsy combined with immunocytochemistry performed on the aspirated material in diagnosing osteosarcoma from an unusual location such as the adrenal gland.     

Aspiration biopsy of osseous metastasis of occult hepatocellular carcinoma: Case report, literature review, and differential diagnosis

Fine-needle aspiration (FNA) cytology is a reliable technique for rapid diagnosis in virtually every organ of the body, including bone lesions. We report on the FNA findings in a 61-yr-old male of an osteolytic sacral lesion, which determined the diagnosis of an unsuspected metastatic hepatocellular carcinoma. In this case, the diagnosis was confirmed by FNA biopsy without resorting to surgical biopsy.     

Disseminated nocardiosis diagnosed by fine needle aspiration biopsy: quick and accurate diagnostic approach

Nocardia is an uncommon pathogen in immunocompetent patients; however, it has been increasingly recognized as a significant opportunistic pathogen in organ transplant patients. Diagnosis of Nocardiosis is usually made by microbiologic culture or cytologic examination of pulmonary specimens including, sputum, and brushing/washings or by histologic evaluation of tissue biopsy material. We report a case of subcutaneous Nocardiosis diagnosed by Fine-needle aspiration biopsy (FNA). The patient is a 66-year-old man with a history of lung transplantation and posttransplant lymphoproliferative disorder who presented with subcutaneous masses in the right upper arm and the left shoulder. FNA was performed in an outpatient clinic setting, with immediate morphologic assessment revealing filamentous branching organisms suspicious for Nocardiosis. Subsequent examination with special stains and microbiologic culture confirmed the diagnosis. The quick and accurate diagnosis by FNA led to emergent and appropriate treatment.     

Fine-needle aspiration cytology of endometrioid adenofibroma of the ovary

We report the fine-needle aspiration (FNA) cytology findings of endometrioid adenofibroma arising in the ovary of a 60-year-old woman who presented with vaginal bleeding. Imaging studies revealed a large pelvic mass, which was sampled by computed tomography-guided FNA and core biopsy. The FNA yielded cellular smears composed of bland endometrioid cells and fragments of ovarian-type stroma. The core biopsy showed a biphasic process comprising bland endometrioid glands in a spindle-cell stroma. Immunohistochemical studies performed on the core showed the stroma to be CD10-negative and smooth muscle actin-positive. Subsequent resection of the tumor confirmed the diagnosis and revealed an adenocarcinoma arising in the tumor that was not sampled by FNA. To our knowledge, the cytologic features of ovarian endometrioid adenofibroma have not been previously described.     

Fine-needle aspiration of dedifferentiated chondrosarcoma of the larynx

We present a case of dedifferentiated chondrosarcoma of the larynx in which the dedifferentiated component was initially diagnosed by fine-needle aspiration (FNA). The patient was a 74-yr-old man who presented with difficulty breathing and an anterior neck mass. A CT scan demonstrated a 4.5-cm cartilaginous lesion involving the left thyroid cartilage, with an anterior soft-tissue component. Nine years prior, the patient had an incomplete resection of a low-grade chondrosarcoma at the same site. FNA was performed on the current lesion, demonstrating a high-grade spindle-cell sarcoma with a storiform pattern. The cytomorphology together with immunocytochemistry and electron microscopy were diagnostic of malignant fibrous histiocytoma (MFH), and synthesis of the clinical, radiographic, and cytomorphologic features resulted in a diagnosis of dedifferentiated chondrosarcoma. The cytologic diagnosis was histologically confirmed by laryngectomy. Although rare, dedifferentiated chondrosarcoma should be included in the differential diagnosis of high-grade sarcomas of bone and cartilage assessed by FNA.     

Lobular breast carcinoma metastasis to skeletal muscle,two case reports diagnosed by ultrasound guided FNA with evaluation of the roles of interventional cytopathology

Skeletal muscle metastasis from breast carcinoma is a relatively rare clinical entity. We report two cases of breast cancer metastatic to the skeletal muscle, diagnosed by ultrasound guided fine needle aspiration (US‐FNA) biopsy done by interventional cytopathologists at an outpatient cytopathology center. Our two patients presented with lower anterior neck firmness and chest wall mass, respectively. Ultrasound evaluation of our first case demonstrated hypo‐echoic thickened anterior strap muscles while in the second case there was significant distortion of the anatomy from previous surgeries. It was necessary to proceed with FNA biopsy even when their ultrasound findings were equivocal, to establish a definite rapid diagnosis. The immediate onsite evaluation findings were suggestive of malignancy in both cases with subsequent core biopsy confirming the diagnosis of metastatic breast carcinoma. In cytopathology, point‐of‐care (POC) ultrasound is used as an adjunct tool that offers visual guidance during FNA of nonpalpable masses and enables sampling of lesional “hot” spots to ensure specimen adequacy. Studies have demonstrated a reduction in FNA nondiagnostic rates with the use of ultrasound‐guidance consequently reducing health care costs associated with nondiagnostic FNAs. US‐FNA also provides adequate samples for cell block preparations. Metastatic lobular carcinoma of the breast has a wide range of clinical presentations and a high level of suspicion is advised. Cytopathologists‐performed US‐FNA is a proven, less‐invasive, cost‐effective tool that provides timely cytologic diagnosis.     

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.     

Adrenocorticotropic hormone‐producing thymic neuroendocrine carcinoma with oncocytic features: A case report and review of literature

Thymic neuroendocrine carcinomas are the most common mediastinal neuroendocrine tumor. These malignancies are not often diagnosed by fine‐needle aspiration (FNA), as they are more commonly diagnosed by biopsy or excision. We describe a case of a FNA of a paratracheal mass from a 38‐year‐old man who presented with Cushing syndrome. A low‐grade neuroendocrine carcinoma with oncocytic features was diagnosed, which was later confirmed by excision of the thymus, anterior mediastinal and paratracheal soft tissue, and lymph nodes. Oncocytic features in these tumors are a rare finding and bring metastatic medullary thyroid carcinomas as well as other metastases into the differential diagnosis. The prognosis of neuroendocrine carcinomas in this location is worse than neuroendocrine carcinomas in other areas, and close follow‐up is recommended. Diagn. Cytopathol. 2015;43:329–334. © 2014 Wiley Periodicals, Inc.     

Ultrasonographic findings of experimental glaucoma in rabbits

Ocular ultrasonography is a valid and non-invasive diagnostic method used to evaluate ocular and retrobulbar structures, especially when opacity of the anterior segments precludes ophthalmic examination of deeper structures of the eye or when exophthalmos is present. This study describes the B-mode ultrasonographic findings of the globe in 10 rabbits with experimental glaucoma. Ultrasonography of the eyes, using Titan TM machine and 7 MHz linear array transducer, was performed transpalpebrally. Ocular ultrasonographic findings revealed two cases of increased corneal thickness, seven cases of change in the anterior chamber depth, one case of increased echogenicity in the anterior chamber, three cases of retinal detachment, one case of increased iris and ciliary body thickness and six cases of change in axial globe length. Increased echogenicity of the capsule, cortex and nucleus was found in two cases. Six cases showed change in lens diameter. Increased echogenicity and altered lens diameter are typical of cataract. Two cases of point-like lesions, mass and/or linear echodensities in mild extent were observed within the vitreous representing haemorrhage, vitreous degeneration or detachment. The B-mode ultrasonographic imaging technique has become an essential diagnostic tool in most ocular disease. This method provides additional information allowing the clinician to offer more accurate diagnosis, treatment and prognosis in glaucoma.     

Coats' disease in Tanzania: first case report and literature review

Background

Coats'' disease is an exudative retinal detachment with vascular telangiectasis occurring mostly in male children, the age group most affected by retinoblastoma.

Objectives

Compare the differential diagnoses of Coats'' diseaseEstablish recommendation to early disease detection.

Materials and Methods

A 3-year-old female child was referred to Muhimbili National Hospital (MNH), Tanzania, in September 2011. She had presented at the peripheral hospital with gradual onset of left eye leukocoria for 1 year and pain for 2 months. B-scan showed a mass in the left eye. A clinical diagnosis of retinoblastoma was made. Left eye enucleation was performed; the patient was referred to MNH, with the enucleated specimen.

Results

Brain and orbits scan revealed no residual tumour. The globe measured 2x1.8 cm, the optic nerve stump measured 3 mm. A whitish mass filled the vitreous, with complete retinal detachment. Microscopy showed retinal gliosis, detachment with sub retinal PAS positive exudates, vacuolation and cholesterol clefts. Foreign body giant cells were present; telangiectatic thin-walled blood vessels were identified. Clinico-pathological findings were of stage 4 Coats'' disease.

Conclusion

Coats'' disease is an important differential diagnosis of retinoblastoma. Delay to detect Coats'' disease leads to vision loss which necessitates eye enucleation as was in this child.     

Cytomorphology of familial hemophagocytic syndrome

Familial hemophagocytic syndrome (FHS) is a rare, fatal disorder of childhood demonstrating failure to thrive, fever, hepatosplenomegaly (HSM), recurrent infections, pancytopenia, and histologically, the infiltration of reticuloendothelial organs by benign-appearing histiocytes demonstrating hemophagocytosis. We report two fatal cases of FHS including a 3 year-old female who underwent fine-needle aspiration (FNA) biopsy of the liver in the initial workup of the disease (case 1) and an 8 month-old boy with ascites and HSM having peritoneal fluid cytology submitted as the first specimen for morphologic examination (case 2). In case 1, the FNA cytologic findings included benign hepatocytes and scattered mature and reactive lymphocytes and histiocytes. The histiocytes demonstrated fine to coarse cytoplasmic vacuoles and erythrophagocytosis. The diagnosis was confirmed at autopsy which revealed extensive lymphohistiocytic infiltrates in various organs including the central nervous system. In case 2, the peritoneal fluid cytology specimen contained numerous atypical and degenerating mononuclear lymphoreticular cells which were dispersed as a single cell suspension admixed with infrequent mesothelial elements; hemophagocytosis was not appreciated. Subsequent liver biopsy revealed portal tracts and sinusoids infiltrated by benign but atypical histiocytes with hemophagocytosis. Bone marrow examination and then autopsy confirmed the diagnosis of FHS. A panel of immunocytochemical studies was performed in the first case which was an aid in confirming the diagnosis of FHS and ultrastructural examination of the second case revealed well-developed erythrophagocytosis. Both patients had siblings who died of FHS. Although not diagnostic, cytomorphology may suggest FHS.     

Fine-needle aspiration cytological features of dermoid cyst of the parotid gland: a report of two cases.

We describe the cytological features of dermoid cyst of the parotid gland the value of preoperative diagnosis by fine-needle aspiration (FNA) cytological evaluation. Both patients had painless parotid masses. On physical examination, a freely movable parotid mass was found in each case. CT scan showed a cystic mass in the parotid gland in each patient. FNA in both cases showed anucleated and nucleated squamous epithelium and keratin debris. The clinical features and cytological findings in each case were interpreted as suggestive of a dermoid cyst. Histological examination of surgical specimens confirmed the presence of a dermoid cyst of the parotid gland in each case. FNA is a reliable method for preoperative diagnosis and permits selection of an appropriate form of surgical procedure for dermoid cyst of the parotid gland.     

Fine-needle aspiration cytology and core biopsy of malignant peripheral nerve sheath tumor of the uterus: a case report

Malignant peripheral nerve sheath tumor (MPNST) is an uncommon mesenchymal neoplasm of neural origin. MPNST arising in the uterus is extremely rare. Its histologic appearance on this anatomical location has been only rarely reported. A 62-yr-old woman with a previous history of partial hysterectomy presented with a large pelvic mass in the uterine stump. Fine-needle aspiration (FNA) and core biopsy were obtained under ultrasonographic guidance, and the diagnosis of MPNST was established. The cytologic and histologic findings were consistent with a spindle-cell neoplasm suggestive of MPNST. The tumor cells were focally positive for S-100 protein immunostain, thus providing further support for the neoplasm's nerve sheath differentiation. The patient had no history of von Recklinghausen's disease. Resection of the mass confirmed the diagnosis of MPNST. To our knowledge, the FNA cytology of MPNST in this unusual location has not been previously reported. FNA cytology, along with core biopsy and immunochemistry, is a reliable tool in the diagnosis of MPNST.     

Hepatocellular carcinoma diagnosed by fine-needle aspiration of the parotid gland

Hepatocellular carcinoma rarely metastasizes to the salivary glands. We report a case of a 47-yr-old man who presented with a right parotid lesion that was diagnosed by fine-needle aspiration (FNA) biopsy as a metastatic lesion suggestive of hepatocellular carcinoma with similar findings in a subsequent intraoral incisional biopsy. The patient's serum alpha-fetoprotein level was within normal limits at the time of diagnosis. CT scan revealed a mass in the liver, but a liver biopsy was not performed. The patient deteriorated rapidly and died about 4 mo later. An autopsy confirmed the presence of hepatocellular carcinoma with distant metastases to unusual sites, including the parotid gland, orbit, and calvarium, bypassing more common sites such as the lungs. This is the second known reported case in which hepatocellular carcinoma presented as a salivary gland metastasis. In both cases the diagnosis was made by FNA biopsy, illustrating the utility of this method for diagnosing uncommon metastatic salivary gland lesions.     

Paratesticular congenital malignant rhabdoid tumor diagnosed by fine-needle aspiration cytology. a case report

We report the FNA features of a congenital malignant extrarenal rhabdoid tumor (MERT) located in the right paratesticular area of a newborn full-term boy (39 wk gestation), with disseminated metastases in the liver and right parietal region. The diagnosis was suggested two days after birth by fine-needle aspiration biopsy (FNAB) of the parietal mass, which demonstrated an atypical large cell proliferation with vesicular nuclei, prominent nucleoli, and abundant cytoplasm exhibiting paranuclear dense inclusions. The diagnosis was confirmed by histopathologic and immunohistochemical examination of the primary paratesticular tumor. To the best of our knowledge, this is the third MERT reported in the paratesticular region, one of the few congenital extrarenal non-central nervous system cases, and the third congenital case (renal or extrarenal) primarily diagnosed by FNAB. We emphasize the characteristic cytologic features of a congenital rhabdoid tumor, which must be known by pathologists because of the clinical and prognostic implications. Diagn. Cytopathol. 2004;30:46-50.     

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome

We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis. On ophthalmological examination of the index patient, a dense cataract and complete retinal detachment could be detected on the right eye. On the left eye, an absent lens nucleus was found, but no retinal detachment. On radiological examination, there was generalized moderate osteoporosis; the spine showed marked platyspondyly and the bone age was advanced. On laboratory investigations, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides could be found. The phenotypical spectrum observed in the 6 affected individuals was rather uniform. The karyotype was normal in all affected children. This hitherto undescribed combination of oculo-skeletal symptoms shows most resemblance with connective tissue disorders, suggesting a range of candidate genes for mutation analysis.     

Lymphadenopathy due to Penicillium marneffei infection: diagnosis by fine needle aspiration cytology.

Penicillium marneffei is an opportunistic fungal infection that usually causes disseminated disease, mainly in immunocompromised individuals, especially those with HIV infection. Untreated cases are usually fatal. Diagnosis is traditionally made by biopsy and/or culture; successful diagnosis by fine needle aspiration (FNA) has only been reported once. We present eight cases of HIV-infected patients with lymphadenopathy caused by P. marneffei infection, in which the diagnosis was made by FNA. In all cases, intracellular and extracellular yeast forms were visualized, and the characteristic cross-septation of P. marneffei was highlighted by GMS staining. All diagnoses were confirmed by culture. Anti-fungal treatment for P. marneffei was initiated, resulting in marked clinical improvement. We conclude that a diagnosis of lymphadenopathy caused by P. marneffei can reliably be made by FNA. The diagnosis is more rapid than biopsy or culture, allowing rapid institution of therapy, particularly important in immunocompromised patients. In all our cases, not only were lymphoma and other causes of lymphadenopathy ruled out, but also the necessity for an open surgical biopsy was obviated. This can be especially beneficial to patients (e.g., three in our study) in which lymphadenopathy is confined to deep intra-abdominal nodes.     

Intrapancreatic schwannoma diagnosed by endoscopic ultrasound‐guided fine‐needle aspiration cytology

Schwannoma is a tumor of neuro‐ectodermal origin, usually occuring in the head and neck and extremities. A retroperitoneal, and particularly intra‐pancreatic presentation is very rare, and poses a clinical and diagnostic challenge. We report a case of a male patient who underwent an Endoscopic Ultrasound‐guided Fine Needle Aspiration (EUS‐FNA) biopsy of a hypoechoic, intra‐pancreatic mass. The onsite cytological evaluation was consistent with a spindle cell neoplasm. Further evaluation, aided by immunohistochemical stains, defined the mass as a Schwannoma. The patient then underwent a pancreaticoduodenectomy and the histopathological diagnosis of the surgical specimen confirmed the cytological diagnosis. To our knowledge, this is the first report of intra‐pancreatic Schwannoma diagnosed preoperatively by EUS‐FNA cytology. Diagn. Cytopathol. 2009. © 2008 Wiley‐Liss, Inc.