Primary iron overload in African Americans.

PURPOSE: To report African Americans with primary iron overload diagnosed during life and to study iron stores in African Americans undergoing autopsy. PATIENTS AND METHODS: We summarized information for 4 African-American patients diagnosed during life with iron overload not explainable by alcohol, blood transfusions, or ineffective erythropoiesis. We reviewed liver specimens and hospital records of 326 unselected adult African Americans who were autopsied, assessing Prussian blue-stained sections for hepatocellular iron and measuring iron quantitatively in specimens that stained positively. We calculated the hepatic iron index (the hepatic iron concentration in mumol/g dry weight divided by the age in years). In autopsy subjects we corrected the index to account for iron administered by blood transfusion (the adjusted hepatic iron index). The hepatic iron index is useful for distinguishing primary iron overload from the moderate siderosis that may accompany alcoholic liver disease. The normal index is < or = 1.0. An index > or = 1.7 cannot be explained by alcohol effects and an index > or = 1.9 indicates the magnitude of iron-loading found in Caucasian homozygous HLA-linked hemochromatosis. RESULTS: The 4 living patients, all males and 27 to 50 years of age, had elevated body iron burdens and one or more of the following: hepatomegaly, cirrhosis, cardiomyopathy, diabetes mellitus, and impotence. Hepatic iron indices were 2.3, 11.5, and 20.2 in the 3 whose liver iron concentrations were measured. Among the autopsy subjects, 4 (1.2%), 2 men and 2 women aged 50 to 63 years, had adjusted hepatic iron indices > or = 1.9 (range 1.9 to 5.6). CONCLUSIONS: Primary iron overload occurs in African Americans. Further studies are needed to define prevalence, pathophysiology and clinical consequences. Clinicians should look for this condition.

Recommendations for management of cystic thyroid disease.

BACKGROUND: Thyroidectomy has been advocated for cystic nodules that recur after 2 fine-needle aspiration biopsies (FNABs) because of concern for malignancy. METHODS: A review of patients with nodular thyroid disease was completed to determine the frequency of cystic nodules, significance of the color and volume of aspirated fluid, frequency and factors predictive of cyst resolution, and incidence of carcinoma in cystic nodules. RESULTS: Thyroid nodules were cystic in 70 (18%) of 389 patients. FNAB was diagnostic in 50 (71%) patients with no false-negative results. Cyst resolution occurred in 10 (14%) patients. The mean volume of fluid aspirated from cysts that resolved was 14 +/- 12 mL compared with 8 +/- 18 mL from recurrent cysts (P > .05). Thyroidectomy was performed in 28 (40%) patients because of an abnormal or persistently nondiagnostic FNAB or compressive symptoms. Six patients (8.6%) had cancer, with a mean nodule size of 3.8 +/- 2.3 cm compared with 3.7 +/- 2.6 cm in patients with benign cysts (P > .05). Hemorrhagic fluid was aspirated in 4 patients with and 36 without cancer (P > .05). CONCLUSIONS: FNAB of cystic thyroid nodules is rarely therapeutic and is a common cause of nondiagnostic rather than false-negative results. Recommendations for thyroidectomy should be based on FNAB rather than on size, fluid color, or failure of cyst resolution alone.

Follicular or Hürthle cell neoplasm of the thyroid: can clinical factors be used to predict carcinoma and determine extent of thyroidectomy?

BACKGROUND: Fine-needle aspiration biopsy (FNAB) and frozen section exam are of limited or no value in distinguishing benign and malignant follicular or Hürthle cell neoplasms of the thyroid gland. METHODS: Patients who underwent thyroidectomy for treatment of a follicular or Hürthle cell neoplasm between 1990 and 1998 were identified and evaluated for age, gender, head and neck irradiation, nodule size, and cytologic atypia to determine whether clinical factors were predictive of carcinoma. RESULTS: Of the 352 patients evaluated for nodular thyroid disease, 75 (21%) underwent thyroidectomy after an indeterminate FNAB finding, 66 with follicular and 9 with a Hürthle cell neoplasm. Seventeen (23%) of the patients had carcinoma-follicular variant of papillary (10), follicular (6), and Hürthle cell (1). Carcinoma was diagnosed in 15 of 64 women and 2 of 11 men (P > .05). The mean age was 43 +/- 21 years and 50 +/- 16 years, respectively, in patients with and without carcinoma (P > . 05). Three patients had previous neck irradiation and none had carcinoma. Mean nodule size was 4.2 +/- 2.7 cm and 4.3 +/- 3.5 cm, respectively, in patients with and without carcinoma (P > . 05). Cytologic atypia was present in 8 of 17 patients with carcinoma and 20 of 58 patients without carcinoma (P > .05). CONCLUSIONS: Clinical factors were not helpful in predicting carcinoma in patients with an indeterminate FNAB finding and thus cannot be used to reliably select patients for more extensive thyroidectomy.

The role of fine-needle aspiration biopsy and flow cytometry in the evaluation of persistent neck adenopathy.

BACKGROUND: The role of fine-needle aspiration biopsy (FNAB) and flow cytometry (FCM) in the evaluation of persistent neck adenopathy has not been completely defined. METHODS: All patients who underwent FNAB of an abnormal lymph node from 1990 to 1997 were identified, and the results of FNAB and FCM were correlated with histology or clinical follow-up. RESULTS: FNAB was performed on 133 patients with an abnormal lymph node in the neck. FNAB was malignant in 82 (62%), atypical in 13 (10%), benign in 27 (20%), and nondiagnostic in 11 (8%) patients. FNAB was compared with histologic results in 114 (86%) or with the results of clinical follow-up (average 17 months) in 12 patients (9%). Seven patients (5%) were lost to follow-up. Lymphoma and metastatic carcinoma were diagnosed in 25 (19%) and 76 (57%) patients, respectively. Sensitivity of FNAB and FCM was 96% and 100%, respectively, and specificity was 58% and 100%, respectively. Patients with Hodgkin's lymphoma accounted for 80% of false negative FCM results. FCM was nondiagnostic in 3 of 34 patients (9%). Definitive subclassification of lymphoma was accomplished in only 3 of 17 (18%) patients in whom FCM was performed. CONCLUSIONS: FNAB is reliable in identifying metastatic disease, non-Hodgkin's lymphoma, and reactive lymphadenopathy in the neck. FNAB and FCM still have a limited role in definitive diagnosis of Hodgkin's lymphoma and classification of non-Hodgkin's lymphoma, underscoring the importance of excisional biopsy.

Supraclavicular lymphadenopathy: the spectrum of pathology and evaluation by fine-needle aspiration biopsy.

Fine-needle aspiration biopsy (FNAB) has emerged as an important modality for the evaluation of supraclavicular lymphadenopathy. To determine the spectrum of pathology and the efficacy of FNAB, all patients with supraclavicular lymphadenopathy evaluated from 1990 to 1997 were analyzed for: 1) a prior history of malignancy; and 2) the side of the abnormal lymph node, FNAB result, and final pathologic diagnosis. FNAB was used to evaluate left- and right-sided supraclavicular lymphadenopathy in 33 and 19 patients, respectively. FNAB was malignant in 37 patients (71%), benign in 4 patients (8%), nondiagnostic in 6 patients (11%), and suspicious in 5 patients (10%). A prior history of malignancy was present in 30 patients and, of these, 23 (77%) had a malignant FNAB compared with 14 of 22 patients (64%) with no previous history of cancer (P > 0.05). Of the 37 patients with a malignant FNAB, 22 (59%) were from a left supraclavicular node. Abdominal and pelvic tumors uniformly metastasized to a left supraclavicular lymph node, whereas malignancies of the head and neck, thorax, breast, and skin and lymphoma showed no significant difference in laterality. There were no false positive or false negative FNAB results. In conclusion, the yield of FNAB is similar in patients with or without a history of malignancy, justifying the routine use of FNAB as the initial diagnostic test for evaluation of patients with supraclavicular lymphadenopathy. However, FNAB is not definitive in 21 per cent of patients with supraclavicular lymphadenopathy, emphasizing the importance of selective excisional biopsy.

Neoplasms associated with pulmonary eosinophilic granuloma.

We found a high prevalence of pulmonary and extrapulmonary neoplasms in patients with pulmonary eosinophilic granuloma (PEG) who were studied at our institution. Among 21 patients with PEG, 10 (48%) had associated benign (one patient) or malignant (nine patients) tumors. Patients with tumors were older at the time of diagnosis of PEG (48.9 vs 34.5 years). Tumors included three lung carcinomas, one pulmonary carcinoid tumor, two lymphomas, five extrapulmonary carcinomas, and one mediastinal ganglioneuroma. Two malignant neoplasms developed in each of two patients. Six tumors preceded, three followed, and three occurred concomitantly with the diagnosis of PEG. Slides from eight PEG-associated tumors and 18 control neoplasms from patients without PEG were also stained immunohistochemically for S100 protein. Four PEG-associated (50%) and 11 control (61%) tumors contained S100 protein-positive interstitial cells. Our study suggests, but does not prove, that there may be more than a random association between PEG and neoplasms. Cigarette smoking, moreover, is an important risk factor for both PEG and lung carcinomas. Our immunohistochemical findings indicate that S100 protein-positive cells in tumors usually bear little or no relationship to PEG. In patients with an underlying malignant neoplasm, PEG simulates pulmonary metastases clinically and, occasionally, histopathologically.

Primary angiosarcoma of the cuboidal bone: a case report.

Primary angiosarcoma of bone is a rare neoplasm. The unique cytomorphologic and ultrastructural aspects of a primary angiosarcoma of the cuboid bone diagnosed by fine-needle aspiration are presented. Smears and cell block preparations revealed single and clustered large, pleomorphic, and spindle-shaped cells with a markedly hemorrhagic background. Electron microscopy revealed characteristic features of endothelial cells including rare Weibel-Palade bodies. The clinical, cytologic, histologic, and ultrastructural aspects of the case are discussed.

Pulmonary paragonimiasis. Report of a case with diagnosis by fine needle aspiration cytology.

We report a case of paragonimiasis in a Nigerian woman evaluated for symptoms of chronic respiratory disease five years after chemotherapy for primary lymphoma of the breast. Fine needle aspiration of one of two fibrocavitary pulmonary lesions yielded thick, brown material in which ova diagnostic of Paragonimus westermani were identified cytologically. This disease is unusual in natives of North America but is seen in travelers and immigrants from Asia, Africa, and South and Central America, where it is endemic. The infection can be fatal, especially if it involves the central nervous system. The clinical differential is broad, but an accurate diagnosis may be made by fine needle aspiration, thus allowing proper treatment.

Squamous cell carcinoma of the breast: a clinical approach.

BACKGROUND: Squamous cell carcinoma (SCC) of the breast is rare. It remains unclear whether a "pure" form of SCC exists or if all known cases actually represent an extreme form of squamous metaplasia within adenocarcinoma. Due to its rarity and controversy over its definition, there are no good data on appropriate management and prognosis. METHODS: All cases of breast carcinoma indexed at our institution were reviewed to identify seven cases where squamous metaplasia was a significant component of the pathologic diagnosis. Slides and electron micrographs were reviewed by a single pathologist. Clinical information was obtained from medical records. RESULTS: These cases support the concept of a disease continuum with varying degrees of squamous metaplasia. When tumors identified as "pure" SCC on light microscopy are subjected to ultrastructural analysis, either separate squamous and glandular cells are present or both histologic features are noted to coexist in the same cell. CONCLUSIONS: Identification of "pure" cases of SCC appears clinically unimportant. All patients presented with advanced disease, thus necessitating aggressive management regardless of histology. Mastectomy was performed due to large tumor size and adjuvant chemotherapy given rather than hormones because of receptor negativity. The mixed histology should direct future drug choice. The role of radiation remains unclear.

Nesidioblastosis in an adult: an illustrative case and collective review.

Nesidioblastosis is a term that describes multifocal hyperplasia of all pancreatic cell components and is characterized primarily by their disorganization and proliferation throughout the entire pancreas. This condition is the most common cause of persistent neonatal hypoglycemia. Since it is so exceedingly rare in adults no consensus regarding its surgical management is available. Our patient underwent celiotomy with a presumptive diagnosis of insulinoma. No adenoma was found and frozen sections suggested hyperplasia. Even when Whipple's triad is met and all biochemical and roentgenographic analyses suggest insulinoma, another etiology may be the cause. Intraoperative ultrasonography may aid in the diagnosis especially after a negative exploration. The diagnosis of nesidioblastosis can be confirmed by frozen section especially if adenomatosis is present. The degree of resection required is problematic because no large series exists. This case is presented with special emphasis given to etiology, pathology, preoperative work-up, and operative strategy.