Yvan C. Bedard

Ultrasound-guided fine-needle aspiration biopsy in the management of thyroid disease.

During a 23-month period, 59 patients were referred for ultrasound (US)-guided fine-needle aspiration biopsy (FNAB) of the thyroid gland because of inadequate orthodox (office) FNAB, a clinically small lesion, or an occult lesion. Seventy percent of the group (41 patients) was referred for surgery, which revealed cancer in 37% of patients, adenoma in 19%, and benign disease in 44%. US-guided FNAB yielded false-positive reports in 0% of patients, false-negative reports in 5% to 12%, and inadequate aspirates in 32%. The US-guided FNAB technique had a sensitivity of 60% to 90%, a specificity of 100%, a positive predictive value of 100%, a negative predictive value of 80%, and an accuracy of 85%. US-guided FNAB provides cytologic information in 60% of patients in whom a diagnosis cannot be established by orthodox (office) means, thus enhancing the diagnostic ability of clinicians who can recommend a treatment program with confidence.

Ultrasonography and ultrasound‐guided fine‐needle aspiration biopsy of head and neck lesions: A surgical perspective

A head and neck ultrasound‐guided fine‐needle aspiration clinic was set up to determine the role of ultrasound and ultrasound‐guided fine‐needle aspiration in the evaluation of patients with lesions in this region. One hundred ninety‐five lesions were biopsied by ultrasound‐guided fine‐needle aspiration in 203 patients. Ultrasound detected 2 or more lesions in 14 (48%) of 29 patients with a clinically solitary thyroid nodule. Three (8.8%) of 34 lesions thought to be within the parotid gland were determined to be external. A pronounced learning curve was evident in the technique of ultrasound‐guided fine‐needle aspiration, particularly for nonpalpable disease. Adequacy of sampling for each 3‐month period was 71%, 89%, and 94%, respectively. Seventy‐four percent of central aspirations were satisfactory compared to 54% of peripheral aspirations. Ultrasound‐guided fine‐needle aspiration did not alter the clinical staging of metastatic neck disease in 8 patients having 10 neck dissections but proved useful in detecting nodal recurrence in 3 irradiated necks that did not proceed to surgery. The smallest node to harbor malignancy had 4‐mm maximal axial diameter. We conclude that ultrasound and ultrasound‐guided fine‐needle aspiration are valuable adjuncts to the clinical examination.

Reappraisal of the value of testicular biopsy in the investigation of infertility.

One hundred and forty-two biopsies were reviewed to reappraise the value and indications for testicular biopsy in the investigation of infertility. These biopsies were categorized within the following morphologic patterns: normal, hypospermatogenesis, maturation arrest, Sertoli cell-only syndrome, and Klinefelters syndrome. The morphology of the biopsies was correlated with the available sperm count, and the contribution of the biopsy to the patients treatment was assessed. Testicular biopsy has proved most useful in azoospermia for the identification of obstruction. In oligospermia, biopsy appears to be of little use.

Surgically Curable Hypertension Associated With Reninoma

Abstract We report on a 20-year-old hypertensive woman with a renin-secreting tumor that was treated by partial nephrectomy. The morphology of this tumor is reviewed, as well as the clinical features of previously reported cases. Renin granules were demonstrated by immunohistologic means and the benign nature of this tumor is stressed.

Aneurysmal cyst of soft tissue: Report of a case with serial magnetic resonance imaging and biopsy

We report a case of an extraosseous aneurysmal cyst arising in the left retroclavicular soft tissue of a 29-year-old woman. A magnetic resonance imaging (MRI) scan showed a solid lesion within soft tissue, abutting the clavicle without bone involvement. An incisional biopsy was interpreted as showing osteoclast rich nodular fasciitis with prominent vascularity. A second MRI 5 months later showed intralesional cystic change with areas of increased signal on T2-weighted images, still without any bony defect. The lesion was excised. Histological examination revealed large vascular spaces lined focally by giant cells. The remainder of the lesion was composed of an admixture of spindle cells and osteoclast-like giant cells. The histological and ultrastructural appearance was that of an aneurysmal bone cyst; however, in view of the lack of any bony involvement, a diagnosis of aneurysmal cyst of soft tissue was made. Primary aneurysmal cysts of soft tissue are rare; this is the third well-documented case in the literature, and the first to describe both the MRI appearance and the histological evolution from a solid to multiloculated lesion.

Role of Fine-needle Aspiration Biopsy and Frozen Section in the Management of Papillary Thyroid Carcinoma Subtypes

Since fine-needle aspiration biopsy (FNAB) was introduced, the value of frozen section (FS) has been questioned. This study compares FNAB and FS sensitivities among the usual form of papillary thyroid cancer (uPTC) and variants of PTC such as tall cell (tcPTC), follicular (fPTC), and Hurthle cell (HcPTC). A total of 257 patients who underwent preoperative FNAB, intraoperative FS, and thyroidectomy for PTC were randomly selected from a database of a university teaching hospital in Toronto. There were 218 females (84.8%) and 39 males (15.2%), from 19 to 89 years of age (mean of 44 years), having uPTC (n = 212), fPTC (n = 24), HcPTC (n = 14), and tcPTC (n = 7). Data were analyzed using χ2 test. Sensitivities were calculated by division of true positives and by the sum of true positives and false negatives. True positives had to reflect a conclusive diagnosis of cancer. The FNAB sensitivities were uPTC (39.2%), fPTC (25%), HcPTC (42.9%), tcPTC (85.7%), similar to FS sensitivities (p = 0.497) for uPTC (44.3%), fPTC (16.7%), HcPTC (42.9%), and tcPTC (71.4%). Use of FS following FNAB increased sensitivities for uPTC to 56.1%, fPTC to 29.2%, and tcPTC to 100%. In addition, FS did not increase FNAB sensitivity in HcPTC. Combination FNAB plus FS failed in 43.9% of uPTC, 70.8% of fPTC, and 57.1% of HcPTC. We concluded that FNAB and FS sensitivity vary with PTC subtype and are still necessary for selection and treatment. The recognition of morphologic subtypes of PTC from the FNAB could optimize the selection of patients for intraoperative FS, enhance the preoperative assessment of prognosis, facilitate the surgical planning, and simplify the preparation of postoperative adjuvant therapy.

Correlation of p53 Mutations in ThinPrep-Processed Fine Needle Breast Aspirates with Surgically Resected Breast Cancers

Mutations of the p53 gene are one of the most common genetic changes found in cancer; their presence may be prognostic and even influence treatment for breast cancer. In this study, we investigated whether DNA could be extracted from the residual cells left in ThinPrep-processed breast fine-needle aspirates and whether p53 gene changes could be detected in the DNA. The results were then correlated with DNA extracted from the matched formalin-fixed, paraffin-embedded, surgically resected breast cancer when available. DNA was successfully extracted from 54 of 62 aspirates and all 31 surgical specimens. p53 gene mutations were detected in 10 of the 54 cytology specimens (18.5%) and consisted of base pair substitutions or deletions. Silent or intronic p53 changes were found in five additional aspirates. One of the aspirates had two gene alterations, resulting in a total of six gene changes. Five of these changes were located in introns 6 or 9 and the sixth was a silent (no amino acid change) change in exon 6. p53 Polymorphisms were detected in nine aspirates (16.3%) and were located in codon 47 (one aspirate), codon 72 (six aspirates), and codon 213 (two aspirates). All cases with surgical material available showed identical p53 mutations, alterations, and polymorphisms in the resected tumors compared with those detected in the corresponding aspirates. The results of this study show that DNA suitable for analysis of p53 gene sequence changes can be successfully extracted from ThinPrep-processed breast fine-needle aspirates, and that identical alterations are detected in both the cytology and surgical specimens.

Assessment of thin-layer breast aspirates for immunocytochemical evaluation of HER2 status.

OBJECTIVE To determine whether immunocytochemistry (ICC) for HER2 on ThinPrep (TP)-processed breast fine needle aspiration biopsies (Cytyc Corp., Boxborough, Massachusetts, U.S.A.) is comparable to the findings of immunohistochemistry on corresponding surgically removed tissue. STUDY DESIGN Immunostaining was performed on 63 malignant breast fine needle aspirates and compared to immunostaining on paraffin sections (PSs) from the subsequent biopsies. The HercepTest (Dako, Carpinteria, California, U.S.A.) and TAB250 antibodies were utilized. Cases in which the TP and paraffin HER2 results did not correlate were further assessed for gene amplification by differential polymerase chain reaction (dPCR). RESULTS HER2 overexpression was found in 9 of the 63 cases (14%). TAB250 had higher specificity on PS versus TP (P = .008), and TAB250 had higher specificity on PS versus the HercepTest on PS and TP (P = .004 and .0001, respectively). CONCLUSION HER2 immunostaining with both the HercepTest and TAB250 on TP is unreliable due to low specificity (72% and 83% for HercepTest and TAB250, respectively). However, both antibodies have high sensitivity (89% and 100%, respectively); suggesting that this method may have some utility as a preliminary screening test for HER2 status. Negative HER2 staining by ICC is highly predictive of the absence of HER2 overexpression, whereas positive HER2 staining on TP would require further validation by either dPCR of fluorescence in situ hybridization.

Adrenal Schwannoma with Apparent Uptake of Immunoglobulins

Schwannoma, a rare tumor of the adrenal gland, was an incidental finding in a 63-year-old woman who had no endocrine symptoms. In addition to the usual light and electron microscopic and immunohistochemical features of a schwannoma, the tumor contained large granular cells and a stroma rich in lymphocytes and plasma cells. The tumor cells appeared on ultrastructural examination to incorporate proteinaceous material by endocytosis into large lysosomal bodies and on immunocytologic studies; the presence of immunoglobulins was noted within the cytoplasm. The apparent massive uptake of immunoglobulins by tumor cells suggests a direct interaction between host and the tumor.

Rhabdomyosarcoma with rhabdoid-like features.

We describe an unusual case of a rhabdomyosarcoma (RMS) in that it had rhabdoid-like cells histologically and occurred in a female who had undergone bone marrow transplantation for chronic myelogenous leukemia. The tumor was composed of loosely cohesive cells with abundant eosinophilic cytoplasm and exhibited PAS-negative paranuclear inclusions. The tumor cells had positive vimentin, muscle-specific actin, sarcomeric actin and desmin immunoreactivity. Ultrastructurally, the tumor cells contained aggregates of thin and thick filaments. In situ hybridization did not detect human papillomavirus or cytomegalovirus DNA, or EBV DNA or RNA. The tumor fulfilled the current criteria for a diagnosis of RMS; however, it could not be further classified. The tumor appears to have a good prognosis as there has been no evidence of recurrence five years after resection. As this is the first case report, to our knowledge, of this type of tumor following bone marrow transplant, the significance of this association is not yet clear.