Electron microscopy renders the diagnostic capabilities of cytopathology more precise: an approach to everyday practice

Cytology is a powerful diagnostic tool but to make definitive diagnoses, the use of ancillary techniques is imperative. By combining immunohistochemistry (IHC) and electron microscopy (EM), cytologic diagnoses can be as precise as those of surgical pathology. In the authors' daily practice of cytopathology they use all ancillary techniques available to them: histochemistry, IHC, EM, flow cytometry, and molecular pathology. IHC is frequently used as an ancillary technique in their daily practice but EM is many times their technique of choice. By the use of EM the authors can make specific final diagnoses, make the diagnosis more definitive, narrow the differential diagnosis, or determine the origin of a neoplasm with unknown primary site. Specimens obtained by fine-needle aspiration as well as all body fluids are suitable for EM. The limiting factor is to obtain the appropriate material with the diagnostic cells for ultrastructural examination. The common diagnostic dilemmas in the everyday practice of cytology are the following: mesothelioma vs. adenocarcinoma, neuroendocrine differentiation or not, the distinction of melanoma from adenocarcinoma and sarcoma, hepatocellular carcinoma vs. adenocarcinoma, and the origin of adenocarcinomas of unknown primary. The authors discuss how they approach these diagnostic problems in their everyday practice and how they incorporate EM in solving them.     

Fine-needle aspiration cytology of phyllodes tumors

Breast lesions with a significant spindle cell or mesenchymal component are not commonly encountered in fine-needle aspiration (FNA) cytologic material and include a heterologous variety of benign and malignant conditions, with phyllodes tumors (PTs) being the foremost differential diagnostic consideration. This study comprises 28 tumors diagnosed histologically as PT in which FNAC material was available for review. Histological sections and cytological smears from these cases were retrieved and subjected to detailed morphological review. Cytological parameters assessed included ratio of stroma to epithelium, pattern characteristics and cytological characteristics of the stromal, and epithelial components and the background cells. Large and hypercellular stroma fragments, dissociated spindle and plump stromal cells, often accompanied by large, folded sheets of epithelium were cytological features that characterized PT. Smears from malignant PT showed predominantly or solely mesenchymal components. FNAC was a highly reliable procedure for the diagnosis of PT, giving an accuracy rate of 92.8%.     

Different fertilization rates between immotile testicular spermatozoa and immotile ejaculated spermatozoa for ICSI in men with Kartagener's syndrome: case reports

We report two cases of infertility treatment in couples where males suffered from Kartagener's syndrome (KS) and a total absence of motile sperm in the ejaculate. A total of three ICSI cycles was carried out. In all cycles, viable ejaculated or testicular spermatozoa were selected using the hypo-osmotic swelling (HOS) test. Case 1: In the first ICSI cycle total fertilization failure occurred after using ejaculated spermatozoa. In the following cycle testicular spermatozoa were used for ICSI, resulting in 75% fertilized oocytes and a pregnancy. Case 2: In the same ICSI cycle 50% of the oocytes were injected with ejaculated and 50% with testicular spermatozoa. The fertilization rates were 44 and 56% respectively and high quality embryos were achieved in both groups. One single embryo derived from testicular sperm was transferred with a resulting singleton pregnancy. In conclusion, testicular sperm for ICSI seem to have reliable fertilization capacity in men with KS, while ejaculated sperm, even if tested viable, seem more unpredictable. HOS test for selection of viable sperm for ICSI is recommended when ejaculated as well as testicular sperm are used for ICSI.     

Fine-needle aspiration cytology of pancreatoblastoma in a young woman: report of a case and review of the literature

Pancreatoblastoma is a rare tumor and has been reported only four times in the cytologic literature, three times in fine-needle aspiration (FNA) biopsy and once in an imprint of resected tumor. We are reporting the fourth case of FNA cytology with immunohistochemical and electron microscopic studies. The patient is a 24-yr-old African American woman, who presented with a pancreatic mass, hepatic masses, and abdominal lymphadenopathy. The aspiration smears of the liver mass showed a biphasic tumor composed of bland-appearing primitive spindled stromal fragments with "spider-web"-like long fibrils interconnecting with sharply angulated islands of cohesive epithelium. At high power, the epithelium is composed of medium-sized cells with round-to-oval vesicular nuclei with fine chromatin and one-to-two small nucleoli. The neuroendocrine component was demonstrated immunohistochemically with synaptophysin and chromogranin expressions. The acinar component and squamoid component were demonstrated ultrastructurally by the presence of 400-600 nm zymogen granules and tonofilaments. The literature was reviewed and the cytological features of all the four cases of pancreatoblastoma are summarized.     

Wilms' tumor in adults: aspiration cytology and cytogenetics

The fine-needle aspiration cytologic findings of Wilms' tumor occurring in a 20-yr-old female patient and a 35-yr-old male patient showing blastemal, spindled sarcomatous and rare epithelial components are reported. The male patient had the typical presentation of renal mass with metastasis to lung and pleura, whereas the female patient had an unusual presentation with the tumor originated from the subcapsular nephrogenic zone of the kidney, extending into the liver without invasion into the renal cortex. Cytogenetic analysis of this case identified: 90, XXXX, +2x3-4, -5, -15, -16, -17, -17, i (17)(q10) x2. This finding may represent a genetic change associated with Wilms' tumor of older pediatric and young adult patients. To the best of our knowledge, this case is the sixth case with cytogenetic study and the first case revealing isochromosome 17q of an adult Wilms' tumor.     

Elastofibroma dorsi: Diagnostic problems and pitfalls

The diagnostic cytomorphologic findings in a case of elastofibroma dorsi are described in this report. The correct diagnosis was initially overlooked on fine-needle aspiration, and was subsequently made by open biopsy. Review of the FNA material, however, demonstrated scanty but diagnostic material. Cytologic examination revealed a mixture of fibroblasts, adipose tissue, and swollen lightly staining cyanophilic elastic fibers in a background of collagenous matrix. Cross sections of the elastic fibers had the typical serrated and globular appearance. These fibers stained positive with elastin stains. The cytomorphology of elastofibroma dorsi with diagnostic pitfalls and differential diagnostic dilemmas are discussed in this article. © 1994 Wiley-Liss, Inc.     

Aspiration cytology diagnosis of a primary amyloid tumor of thoracic vertebra: a case report

Isolated primary amyloid tumor of bone is rare; however, preoperative diagnosis can be rewarding because the prognosis is excellent. There are no clinical or roentgenographic criteria that can establish this diagnosis. There are few previous reports of fine-needle aspiration (FNA) where diagnosis of amyloidoma was made retrospectively. They describe the presence of extracellular hyaline material along with plasma cells and lymphocytes. A 35-year-old female was referred to the FNA clinic with swelling in the right upper chest wall. Radiologic findings revealed a destructive lytic lesion involving the bodies of D1 and D2 vertebrae with extension into surrounding soft tissue. Repeated FNA smears were hypocellular but had abundant homogeneous flocculent material, which stained positive with Congo red. A few plasma cells and foreign-body giant cells were also seen. We conclude that preoperative FNA cytology diagnosis of amyloid tumor is possible. Hypocellular smears with flocculent material, plasma cells, and foreign-body giant cells in absence of granulation tissue should suggest the diagnosis.     

Cytological diagnosis of nonulcerative penile neoplasms: report of two cases

Nonulcerative penile mass lesions are rare. Pathological diagnosis of these lesions would traditionally be a biopsy. We report two such primary penile lesions which were diagnosed by fine-needle aspiration cytology (FNAC). Both lesions were present in the shaft and were diagnosed as squamous cell carcinoma (SCC). The first patient had a recurrence on the penile stump of partial amputation without any ulceration. The second had a primary urethral carcinoma on the terminal penile shaft infiltrating the corpora cavernosa dorsally. Open biopsies were avoided in both cases. FNAC was associated with very little and tolerable discomfort. There were no complications. The aspirate yield was sufficient for cytological diagnosis. FNAC of nonulcerated penile lesions is safe, well tolerated, and capable of providing a cytological diagnosis. Hence, it is a very useful outpatient procedure and could be the procedure of choice for diagnosis.     

Use and abuse of frozen section in the diagnosis of follicular thyroid lesions

The role of intraoperative frozen section in certain organ systems such as the thyroid continues to be problematic. In many cases, diagnoses are deferred or nonhelpful—“follicular lesion.” In the modern era, the widespread use of preoperative aspiration biopsy has allowed for more careful selection of patients who undergo thyroid surgery. In many cases, the fine-needle-aspiration (FNA) biopsy diagnosis can be definitive or can guide the specific surgical procedure. The literature supports our approach, which is summarized as follows: Intraoperative consultation is not needed on the intrathyroidal nodule if a preoperative FNA was definitive for papillary carcinoma. Frozen section is of no value in the intraoperative diagnosis of lesions diagnosed on FNA as “follicular neoplasm” or “Hürthle cell neoplasm” because the characterization of these lesions requires detailed analysis of the tumor capsule for the demonstration of capsular and/or vascular invasion—an analysis that is not practical in the intraoperative setting. Finally, intraoperative consultation including frozen section and intraoperative cytologic examination is most useful in those cases that are diagnosed as suspicious for papillary carcinoma by FNA, because the assessment of nuclear features needed for the definitive diagnosis is possible with intraoperative techniques in a significant number of cases.     

Diagnostic impact of core-needle biopsy on fine-needle aspiration of non-Hodgkin lymphoma

We retrospectively reviewed 74 fine-needle aspiration (FNA) cases of presumptive non-Hodgkin lymphoma (NHL). All the cases had cytology and core-needle biopsy and 53 cases had concurrent flow cytometric analysis. FNA (cytology and flow cytometry) and core-needle biopsy were evaluated independently. FNA was diagnostic of diffuse large B-cell lymphoma (DLBL) in 25% (13/53) of cases and small B-cell NHL in 15% (8/53) of cases, whereas core-needle biopsy was diagnostic of DLBL in 37% (27/74) of cases and small B-cell NHL in 8% (6/74) of cases. Subclassification of small B-cell NHL was reached in 3/6 cases by core-needle biopsy. Insufficient cases were observed in both FNA (47%; 25/53) and core-needle biopsy (28%; 21/74) groups. With the combination of FNA and core-needle biopsy, diagnostic cases of DLBL increased to 43% (32/74) and insufficient samples were reduced to 16% (12/74). There was no clear advantage in the diagnosis and classification of small B-cell NHL by adding core-needle biopsy to FNA (14%; 10/74). We conclude that core-needle biopsy is a useful adjunct to FNA in the diagnosis of DLBL and shall be encouraged. In small B-cell NHL, core-needle biopsy does not add to the diagnostic ability of FNA. Cases insufficient for diagnosis may be seen in both core-needle biopsy and FNA. A combined approach reduces the number of insufficient cases and is recommended in routine FNA practice.