Pathological and clinical findings in a series of 67 cases of medullary carcinoma of the thyroid

The pathological features of 67 cases of medullary carcinoma of the thyroid were studied, and when possible the case histories were reviewed.The typical tumour is sharply demarcated but not encapsulated, is composed of sheets of cells having eosinophilic granular cytoplasm, with the deposition of amyloid in the stroma. We would stress the frequency of binucleate cells, the scarcity of mitoses, and the frequent occurrence of calcification.The clinical findings show a wide variation in age at presentation of this tumour, and a wide variation in prognosis, with a mean survival from the time of presentation to hospital of 6.6 years, the longest being 21 years. Two of this group of patients also had phaeochromocytomas; these two and three others showed small papillary tumours of the eyelids, lips, and tongue.Despite the variation in some of its characteristics, medullary carcinoma of the thyroid is considered to be a distinct and sharply defined entity. It appears to be the only type of thyroid carcinoma associated with phaeochromocytoma, the only type associated with multiple mucosal neuromas and the only type with a familial incidence. These findings emphasize the validity of its separation from other types of thyroid carcinoma.     

Cytological results of ultrasound-guided fine-needle aspiration cytology for thyroid nodules: emphasis on correlation with sonographic findings

Purpose

To compare the cytological results of ultrasound-guided fine-needle aspiration (US-FNA) cytology of thyroid nodules to sonographic findings and determine whether US findings are helpful in the interpretation of cytological results.

Materials and Methods

Among the thyroid nodules that underwent US-FNA cytology, we included the 819 nodules which had a conclusive diagnosis. Final diagnosis was based on pathology from surgery, repeated FNA cytology or follow-up of more than one year. Cytological results were divided into five groups: benign, indeterminate (follicular or Hurthle cell neoplasm), suspicious for malignancy, malignant, and inadequate. US findings were categorized as benign or suspicious. Cytological results and US categories were analyzed.

Results

Final diagnosis was concluded upon in 819 nodules based on pathology (n=311), repeated FNA cytology (n=204) and follow-up (n=304), of which 634 were benign and 185 were malignant. There were 560 benign nodules, 141 malignant nodules, 49 nodules with inadequate results, 21 with indeterminate results, and 48 that were suspicious for malignancy. The positive and negative predictive values of the US categories were 59.1% and 97.0%, and those of the cytological results were 93.7% and 98.9%. The US categories were significantly correlated with final diagnosis in the benign (p=0.014) and suspicious for malignancy (p<0.001) cytological result groups, but not in the inadequate and indeterminate cytological results groups. The false positive and negative rates of cytological results were 1.9% and 3.2%.

Conclusion

Sonographic findings can be useful when used alongside cytological results, especially in nodules with cytological results that are benign or suspicious for malignancy.     

多发性甲状腺结节伴甲状腺癌48例诊治分析

诊断多发性甲状腺结节临床较常见，以往认为其合并甲状腺癌较少，但临床实践中发现甲状腺多发结节合并甲状腺癌的也不在少数。我院自2000年10月至2006年10月收治甲状腺癌116例，其中多发甲状腺结节并发甲状腺癌48例，现报告如下。     

Subacute thyroiditis: fine-needle aspiration cytology of 14 cases presenting with thyroid nodules

Subacute thyroiditis (SAT) is usually diagnosed clinically without the need for fine-needle aspiration. The cytologic literature on this condition is therefore rare. We report on 14 cases of SAT presenting with thyroid nodules. The majority of patients were women with a mean age of 46 yr. All had pain/tenderness in the thyroid area accompanied by fever or an elevated ESR. The salient cytologic features included cellular smears; multinucleated giant cells in 100% of cases, some ingesting colloid or neutrophils; fibrous fragments with enmeshed inflammatory cells were a constant feature; follicular cells were scant to absent in most cases. Granulomas were rare. Colloid, when present was thick, with central cracks and frayed edges. One case was suspicious for malignancy. We conclude that the cytologic features of SAT are predictable, particularly, in the appropriate clinical setting. FNA is also helpful in ruling out concomitant neoplastic conditions.     

Pathological findings after right lung transplantation in a patient with fibrosing alveolitis

The pathological findings in a patient who died two months after right lung transplantation for fibrosing alveolitis are reported. The cause of death was haemoptysis, due to penetrating ulceration causing a fistula between the surface of the cartilagenous part of the main bronchus of the donor lung and the right upper lobe pulmonary artery. The opening in the donor bronchus was immediately distal to the line of the bronchial anastomosis and through an actively inflamed area. Other parts of the donor bronchus had microscopic changes suggesting ischaemia, emphasizing that inadequacy of blood supply to the donor extrapulmonary bronchus is one of the most serious hazards of lung transplantation. Within the lung, histological features of rejection were mild and there was minimal evidence of infection. Another question raised by this case is whether the donor lung was in the process of developing the original disease, evidence for which was sought electron microscopically but was not proven.     

Analysis of thyroid carcinoma in patients with cold thyroid nodules: a review

It is generally accepted that the risk of thyroid carcinoma is more likely when solitary cold nodules are seen on a thyroid scan, while the presence of thyroid carcinoma in hyperfunctioning nodules has been found to be quite rare. This article attempts to establish the incidence of thyroid carcinoma in patients with solitary cold nodules on thyroid scans. The records of 110 consecutive patients who underwent thyroidectomy procedures were reviewed. Of 53 patients with solitary cold nodules, nine had carcinoma, an incidence of 17 percent.     

ThinPrep for cytologic evaluation of follicular thyroid lesions: correlation with histologic findings

Fine needle aspiration (FNA) is often the first step in management of a thyroid nodule. Although papillary carcinomas have distinctive features on conventional smears as well as ThinPrep preparations, cytopathologists rely on the architectural arrangement of cells to classify follicular lesions. The accuracy of ThinPrep in this regard has not been determined. We reviewed all thyroidectomy specimens from a 22-mo period that showed a follicular lesion and had one or more preoperative FNA. The architecture of the lesions on histology was classified as predominantly (>70%) macrofollicular (MA), predominantly microfollicular (MI), mixed (MX), or cystic (C). The presence of colloid, Hürthle cell features, cystic change, Hashimoto's thyroiditis, and nonspecific lymphocytic thyroiditis were also recorded. All FNA specimens were processed with the ThinPrep(R) method and were categorized as nondiagnostic, benign (MA or MX), indeterminate (due to suboptimal cellularity), or suspicious (consistent with a microfollicular or Hürthle cell neoplasm) based on cellularity, architectural arrangement of the follicular cells, and the presence or absence of colloid on FNA. Those cytologic specimens in the indeterminate category were subcategorized as suggestive of an MA, MX, or MI lesion if possible. Histocytologic findings were correlated using Fisher's exact test. A total of 95 patients with 115 FNAs were included in the study (mean age: 48 yr; 75 females and 20 males). Seven of the FNAs were nondiagnostic, 23 benign, 69 indeterminate (5, 8, and 30 favor MA, MX, and MI, respectively, 6 cyst contents and 20 not subclassifiable) and 16 suspicious. The cytohistologic correlation for architecture was significant (P = 0.003). The cytohistologic correlation of cystic change, Hürthle cell change, and the presence of colloid (large fragments of colloid and "tissue-paper-like material" on cytology vs. abundant colloid on histology) was highly significant (P < 0.001, < 0.001, and < 0.03, respectively). In conclusion, thyroid FNA with ThinPrep is useful in predicting the architectural pattern of follicular lesions. It is also reliable in predicting cystic change, Hürthle cell change, and the presence of colloid. Watery colloid is probably present as "tissue-paper-like material" in thyroid FNA ThinPrep preparations.     

Parenchymatous thyroid nodules: a histocytological study of 31 cases from a goitrous area.

AIMS: To analyse the benefits and limitations of fine needle aspiration in the cytological differentiation of parenchymatous nodular goitres from follicular tumours in an endemic area. METHODS: Cytological smears of fine needle aspirates from 31 parenchymatous nodular goitres were studied. A sample from the punctured nodules was fixed in formalin and stained with haematoxylin and eosin for histological analysis. RESULTS: All nodules occurred in a multinodular gland, were well circumscribed, did not compress surrounding thyroid tissue, and for the most part, were unencapsulated. Two cases showed cytological features of nodular goitre, two of colloid cysts; the remaining 27 were cytologically indistinguishable from follicular lesions. CONCLUSIONS: Most of the parenchymatous nodules studied had features suggestive of follicular lesions or neoplasia, but surgical treatment should only be considered after hormone treatment has proved unsuccessful, and when they are not suspected as malignant clinically. Fine needle aspiration is useful as a diagnostic and screening aid, but the results should be interpreted with caution to prevent unnecessary surgery.     

Placental site nodules and plaques: a clinicopathological and immunohistochemical study of 25 cases with ultrastructural findings

Placental site nodules or plaques (PSN-Ps) are nodular benign lesions of the intermediate trophoblast (IT) cells in the endometrium, endocervix, superficial myometrium or fallopian tube, occurring after a remote intrauterine pregnancy. We present a study of 25 cases of PSN-Ps These lesions occurred in patients aged 18 to 44 years. Most were discovered incidentally in endometrial curettage specimens. The specimens were received as part of clinical investigations for menorrhagia, per vaginal bleeding or pelvic pain. None of the PSN-Ps was visible grossly. Microscopically, they were mostly multiple, well-circumscribed, oval or plaque-like cellular nodules. The IT cells typically had abundant vacuolated or eosinophilic cytoplasm. The nuclei were irregular, large, hyperchromatic, often degenerate-looking and either mononucleated, multinucleated or multiclefted. Hyalinization surrounding individual or groups of IT cells, or located in the centre of the nodules, was a constant feature in all cases. The lesional cells were strongly immunoreactive to CAM 5.2, 34 beta E12, AE1/AE3, EMA and vimentin. Some cases showed focal positivity to HCG and HPL. PLAP staining was consistently negative. Ultrastructurally, the IT cells showed prominent nuclear variation in size and shape. The abundant, vacuolated cytoplasm contained some rough endoplasmic reticulum and loosely arranged filaments. This study describes the clinicopathological and immunophenotypic features of 25 cases of PSN-Ps including the ultrastructural findings of one case.     

Isolated Langerhans cell histiocytosis of the thyroid: a report of two cases with nuclear imaging-pathologic correlation

We describe two cases of isolated langerhans cell histiocytosis (LCH) of the thyroid gland, one of which was found in conjunction with an incidental papillary carcinoma. The first case was that of a 43-year-old man who presented with a 1- to 2-cm nodule within the left lobe of the thyroid. Fine-needle aspiration cytology revealed atypical cells with convoluted nuclei in a background of eosinophils and lymphocytes. The findings prompted a recommendation for excision secondary to the high suspicion of a hematologic malignancy. Histologic sections demonstrated LCH in association with a small focus of papillary carcinoma. The second case involved a 43-year-old woman who presented with a 1.8-cm nodule within the right lobe of the thyroid. Fine-needle aspiration in this case demonstrated abundant hemosiderin-laden macrophages, occasional lymphocytes, and a single benign sheet of follicular cells. No eosinophils were seen; however, a single group of atypical histiocytic cells with cleaved nuclei was noted. The nodule was subsequently resected. Histologic examination demonstrated LCH in association with follicular nodular hyperplasia with cystic degeneration. Immunohistochemical studies were performed in both cases, revealing CD1a and S100 immunoreactivity in the Langerhans' cells. Although LCH may occur as a manifestation of systemic disease, its occurrence as an isolated finding in the thyroid is rare. Its occurrence in association with papillary carcinoma of the thyroid is even more uncommon. We present two cases of isolated LCH of the thyroid, one of which was found in association with papillary carcinoma of the thyroid. The cytologic, histologic, immunohistochemical, and radiologic features are described in each case. The ultrastructural findings from the first case are also presented.     

RASA1 analysis: clinical and molecular findings in a series of consecutive cases

RASA1 mutations have been reported to be associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM), arteriovenous fistulas (AVF), or Parkes Weber syndrome. But the number of cases with RASA1 mutations reported to date is relatively small and the spectrum of phenotypes caused by mutations in this gene is not well defined. Mutation results and clinical findings in thirty-five unrelated consecutive cases sent for RASA1 molecular sequencing testing at ARUP Laboratories within the last two years were evaluated. Eight individuals had a pathogenic RASA1 mutation of which six were novel. These eight individuals all had CMs (seven had multifocal CMs; one had multiple CMs), and six also had a brain or facial AVM. Two individuals with multifocal CMs including one with a fast flow lesion had a variant of uncertain significance. All other individuals, including sixteen with CMs and one with a vein of Galen aneurysm, tested negative for a RASA1 mutation. Our data suggest that multifocal CM is the key clinical finding to suggest a RASA1 mutation. The clinical diagnostic mutation detection rate among all samples sent for RASA1 testing was 29% (10/35) which increases to approximately 39% (10/26) if patients without CMs are excluded.     

Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.

We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22q11 deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed postnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with VSD, common arterial trunk, and left atrial isomerism with double outlet right ventricle. The problems of genetic counselling in these cases are discussed. A recommendation is made to test all fetuses with conotruncal heart abnormalities detected prenatally for a 22q11 deletion, whereas guidelines for other congenital heart disease types are less clear.     

Fine needle aspiration biopsy of thyroid nodules: cytologic and histopathologic correlation of 1096 patients

Via routinely used thyroid function tests, scintigraphy and ultrasonography (USG), important information is obtained in the clinical and diagnostic practice for thyroid nodules. However, the distinction between benign and malignant lesions cannot precisely be performed with these tests. Thyroid fine needle aspiration biopsy (FNAB) is considered the most reliable diagnostic method in the differentiation between benign and malignant thyroid nodules. It has recently been likely to perform aspiration from deeper nodules via the implemention of FNAB along with USG. Today, in cytopathological examination of thyroid FNAB, standardized Bethesda System for Reporting Thyroid Cytopathology (BSRTC) system is used. Here, FNAB was performed in 1096 patients with thyroid nodules in the Medical School of Selcuk University between January 2009 and July 2014. Patients consisted of 919 women and 177 men between 12 and 87 years of age. Evaluated via BSRTC, the results were classified as unsatisfactory, benign, atypia (or follicular lesions) of undetermined significance (AUS), follicular neoplasm or lesions suspicious for follicular neoplasm (FN), suspected malignant and malignant. After FNAB, 183 patients were operated and evaluated histopathologically. Histological malignancy rates of the categories were as follows: 16% (5), 15% (6) 14% (1) 60% (9), 72% (18) and 97% (63), respectively. In our study, we aimed to compare FNAB results of thyroid nodules with histopathology results after thyroidectomy and to show the sensitivity and specificity of FNAB technique to be higher in the follow-up and diagnosis of thyroid lesions. Given the malignancy detection rate in the follow-up of patients whose cytology was reported as inadequate, we also consider follow-ups are important in these patients.     

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

We describe the postmortem findings of a 47-year-old man with Fabry disease, an X-linked glycolipid storage disorder, who was on enzyme replacement therapy with recombinant α-galactosidase A for more than 2 years. The patient had widespread atherosclerotic coronary artery disease that culminated in a massive acute myocardial infarction. Atherosclerotic lesions were seen in the right and left coronary systems, aorta, and the basilar artery. Typical Fabry cardiomyopathy and glomerular nephropathy were found. With the exception of vascular endothelial cells, extensive glycolipid storage deposits were seen in all vascular and nonvascular cells and organ systems. We conclude that, at least in this patient, repeated infusions with α-galactosidase A over a prolonged period did not appreciably clear storage material in cells other than vascular endothelial cells. These findings also illustrate accelerated atherosclerosis in susceptible patients with Fabry disease.     

Potential pitfalls for false suspicion of papillary thyroid carcinoma: a cytohistologic review of 22 cases

To evaluate the diagnostic pitfalls attributing to false suspicious interpretation of papillary thyroid carcinoma (PTC), we performed a retrospective cytohistologic review of thyroid nodules diagnosed as suspicious for papillary carcinoma with histology-proven false suspicion of PTC. A total of 22 thyroid fine needle aspirates along with the corresponding surgical specimens were reviewed. The presence and/or absence of PTC-associated morphologic features and their mimics were evaluated. One aspirate showed papillary-like fragments with honeycomb architecture. One aspirate contained rare syncytial-type fragments which were accompanied by honeycomb sheets of follicular cells and moderate amount of colloid. Intranuclear grooves presented occasionally in virtually all 22 aspirates. The grooves were noted mainly within round nuclei and appeared thin and/or incomplete. Rare intranuclear pseudoinclusions were detected in one otherwise benign-appearing aspirates. Eight aspirates contained various numbers of histiocytes, as well as atypical polygonal, epithelioid, elongate, or spindle cells in which intranuclear grooves were occasionally seen. Conspicuous fragments of fibrocollagenous tissue with entrapped follicular cells were detected in one aspirate. The corresponding histological specimen revealed counterpart of the cytological findings described. Other features associated with PTC were inconspicuous. The findings demonstrated that the following factors may contribute to the false suspicion of PTC: (1) misinterpretation of papillary-like tissue fragments with honeycomb arrangement and fragments offibrocollagenous tissue with entrapped follicular cells; (2) overinterpretation of suboptimal intranuclear grooves and rare intranuclear pseudoinclusion in the absence of the other features of PTC; (3) misinterpretation of the polygonal, epithelioid, elongate, or spindle cells that actually represented atypical cyst lining cells.     

Role of fine-needle aspiration cytology in the management of thyroid nodules: review of experience with 1,925 cases.

In this review article, the authors present their experience with the management of thyroid nodules using fine-needle aspiration cytology as the primary method of investigation. © 1992 Wiley-Liss, Inc.