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Papillary carcinoma of the thyroid with anaplastic transformation: diagnostic pitfalls in fine-needle aspiration biopsy.

A case of coexistent papillary and anaplastic carcinoma of the thyroid is presented. The diagnosis of papillary carcinoma was made by fine-needle aspiration biopsy (FNAB); however, it did not correspond to the aggressive clinical behavior of the tumor. Subsequent biopsies revealed anaplastic carcinoma in the thyroid and pretracheal tissue. This case most likely represents anaplastic transformation in a pre-existing papillary carcinoma. The limitations of diagnosing this entity by FNAB as well as some possible solutions are discussed.

Carcinoma↗

Thyrolipoma: diagnostic pitfalls in the cytologic diagnosis and review of the literature.

Thyrolipoma, or adenolipoma of the thyroid gland, is an uncommon neoplasm and thus not recognized by many cytopathologists. This is the first article to describe the fine-needle aspirate findings of a histologically confirmed thyrolipoma. The gross morphologic and computerized tomographic features of this entity are also discussed, and the literature is reviewed.

Aged↗

Fibroadenoma of the breast: diagnostic pitfalls of fine-needle aspiration.

On fine-needle aspiration (FNA), fibroadenomas have a characteristic cytological appearance, although occasional cases are misinterpreted as carcinomas and vice versa. In a review of 521 breast aspirates correlated with the subsequent histology, six of 87 fibroadenomas (7%) were malignant or suspicious of malignancy on FNA (false positives). Following cytological review, four were still suspicious of malignancy because of cellular dyscohesion and prominent nucleoli, while two were fibroadenomas. On FNA, four of 145 carcinomas (3%) were diagnosed as fibroadenomas (false negatives). On review, three were malignant or suspicious of malignancy, while one was consistent with a fibroadenoma. Three false negative diagnoses were due to underappreciation of single malignant cells present between epithelial groupings typical of a fibroadenoma, while one was due to undersampling of the carcinoma. Cytologically, some fibroadenomas are sufficiently atypical that histological confirmation is necessary to exclude a malignancy. Misinterpreting carcinomas as fibroadenomas could be avoided by careful study of the morphology of isolated cells.

Adenofibroma↗

Fine-needle aspiration of the breast: a review of 1,995 cases with emphasis on diagnostic pitfalls.

Between 1985 to 1989, 1,995 fine-needle aspirations of palpable breast lesions were performed at our institution. In all cases, the aspirates were procured by cytopathologists using 22- or 23-gauge needles. Direct smears were immediately stained with Diff-Quik and Papanicolaou and assessed for specimen adequacy (criteria as followed in this institution). Tissue follow-up was available in 1,117 cases. The cytologic diagnoses rendered in these cases were: malignant, 690 cases (60.2%); suspicious for carcinoma, 49 cases (4.3%); benign, 343 cases (29.9%), and insufficient specimen, 35 cases (3.1%). There were 28 false-negative and 2 false-positive results. Considering only cases definitively diagnosed as benign or malignant, the sensitivity was 96%, specificity 99%, positive predictive value 99%, negative predictive value 94%, and overall efficiency 97%. Of these specimens considered suspicious, only 11 cases (22%) were proved not to be malignant after excisional biopsy. These were three fibroadenomas, three ductal hyperplasias, two adenosis tumors, two mucocele-like lesions, and one nipple adenoma. The two lesions that resulted in true false-positive diagnoses were an apocrine cyst with atypia and sclerosing adenosis with radial scar. The clinical and cytologic features of the benign conditions that resulted in false suspicious and positive diagnoses and those features that distinguish them from carcinoma are presented.

Biopsy, Needle↗

Klippel-Feil syndrome revisited: diagnostic pitfalls impacting neurosurgical management.

Klippel-Feil syndrome in its most basic definition includes several anomalous conditions of the cervicomedullary junction and suboccipital region. Pediatric neurosurgeons are often involved in surgical palliation of this syndrome, without realizing how the accompanying anomalies may obfuscate management in the older child. A brief review of the embryology of the rhombencephalon helps to clarify the etiology of some of these symptoms which may cause confusion and, occasionally, inappropriate treatment. Illustrative cases will demonstrate some of these pitfalls. Appropriate early intervention, such as posterior fossa decompression, ventricular shunting, and fundal plication, may help to avoid needless morbidity. The advent of magnetic resonance scanning has helped to clarify the diagnosis and resulted in more appropriate treatment in these cases.

Female↗

Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.

The case of a 9-month-old girl with glutaric aciduria type 1 (GA 1) is reported. On initial presentation at 6 months of age, the patient demonstrated bilateral subdural hemorrhages and widening of the basal cisterns. After neurosurgical intervention the subdural effusions regressed; their etiology remained unclear. At the age of 9 months the patient presented again because of progressive loss of psychomotor abilities and a dystonic movement disorder. Cerebral MRI revealed regressive subdural hematoma, but marked frontotemporal atrophy as well. Because of a suspected metabolic disorder, urinary analysis of organic acids was performed. This repeatedly showed marked excretion of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid, indicating a diagnosis of GA 1. Considering our patient's history, we recommend the inclusion of GA 1 in the differential diagnosis of patients with unexplained subdural hematoma and neurological deficits.

Amino Acid Metabolism, Inborn Errors↗

Endophytic malignant transformation within flat adenoma of the colon: a potential diagnostic pitfall.

A 74-year-old man was found to have a 1 cm, slightly elevated and flat, red mucosal lesion of the descending colon. An endoscopic biopsy showed a structure characteristic of a tubular adenoma. The surgical specimen revealed an inverted, transmural, solid and cystic lesion. The superficial (intra-mucosal) component of the neoplasm was histologically characteristic of a flat adenoma, showing epithelial dysplasia. However, the contiguous deep component was a well-differentiated adenocarcinoma extending to the serosa and demonstrating the unusual features of a circumscribed lobulated topography and the absence of an inflammatory/desmoplastic stromal reaction. Endophytic malignant transformation within a flat adenoma should be distinguished from conditions of misplaced glandular epithelium such as localized colitis cystica profunda. Complete and full mucosal thickness endoscopic snare removal is indicated in order to assess the degree of epithelial dysplasia and detect endophytic malignant transformation.

Adenocarcinoma↗

Hypoplastic superficial femoral artery associated with bilateral persistent sciatic arteries: a diagnostic pitfall.

A patient with unsuspected bilateral persistent sciatic arteries (PSAs) underwent angiography following a gunshot wound to the right thigh. A hypoplastic superficial femoral artery associated with this rare vascular anomaly was misdiagnosed as being traumatically occluded. Pitfalls in the diagnosis of PSA as well as the embryology, clinical features, and complications are discussed.

Adult↗

Duplication of the kidney: a potential diagnostic pitfall.

Nine patients with marked vesicoureteral reflux into a contracted, pyelonephritic kidney were found at time of surgery to have complete duplication of the affected side. Eight of them also had an ectopic ureterocele. The radiological diagnosis of duplication was virtually impossible as all these kidneys showed reflux nephropathy and were smaller than the contralateral kidney. The surgical management is briefly outlined.

Adult↗

[Diagnostic pitfalls in sulfonylurea-induced neuroglycopenic syndrome with hemiparesis, dysphasia and somnolence].

BACKGROUND: The neuroglycopenic syndrome, which is often due to sulfonylurea-induced hypoglycemia, is frequently overlooked or misinterpretated as cerebral ischemia. PATIENTS: Two women aged 81 and 83 years, respectively, with type II diabetes treated with sulfonylureas presented with hemiparesis, dysphasia and somnolence. Both, general practitioner and emergency room physician first interpretated the symptoms as clinical signs of stroke without determination of blood glucose. After hours of delay due to unnecessary and expensive examinations including cerebral computed tomography the correct diagnosis of hypoglycemia was finally made. After injection of i.v. glucose the symptomatology was completely reversible. CONCLUSION: In every case of disturbance of consciousness, acute neurologic deficits and psychiatric abnormalities an immediate blood glucose test should be performed to exclude hypoglycemia.

Aged↗

Low incorporation of soleus tendon: a potential diagnostic pitfall on MR imaging.

We describe a case of thickening and longitudinal increased signal within the Achilles tendon in a patient denying any recent or previous history of Achilles tendon injury. The MR appearance, while simulating tendinosis or rupture, was compatible with incomplete incorporation of the soleus tendon into the gastrocnemius tendon. This constitutes a normal anatomical variant, not previously described in the radiologic literature, and should not be confused with increased signal and thickening due to disease of the Achilles tendon.

Achilles Tendon↗

Radiologically identifiable intratumoral portal vein in intrahepatic cholangiomas: a diagnostic pitfall.

BACKGROUND: Although intratumoral patent portal vein (ITPV) is one of the characteristic features of benign hepatic lesions, ITPVs can be demonstrated in malignant tumors. We present the spectrum of MR and CT findings of ITPV identified in intrahepatic cholangiomas with pathological correlations. METHODS: The ultrasound, CT and/or MRI findings of pathologically-confirmed intrahepatic cholangiomas were reviewed and correlated with surgical specimen or autopsy findings. RESULTS: Intratumoral patent vessels were radiographically-demonstrated in 5 patients with intrahepatic cholangiomas. All intratumoral vessels were secondary or tertiary order portal vein branches. Some wall thickening was identified on pathological examinations. CONCLUSION: The radiological demonstration of intratumoral portal vein is not a specific sign of benignity. In the case of a hepatic tumor with a patent portal tract, cholangioma should be considered, as well as benign tumors or lymphoma.

Adenoma, Bile Duct↗

Desmin expression in spindle cell lipomas: a potential diagnostic pitfall.

The immunohistochemical analysis of the spindle cell lipomas has been for the most part limited to the study of S-100 protein, CD34, and Bcl-2 reactivity. To evaluate the immunoexpression of desmin and actins in spindle cell lipomas of different histological subtypes a retrospective immunohistochemical study of 25 spindle cell lipomas using archival formalin-fixed, paraffin-embedded tissue was performed. Strong positivity of the spindle cell component for desmin was found in 4 of 25 cases (16%). The expression was diffuse in two cases and focal (in up to 25% of the spindle cells) in the other two. Two of these cases were of the classical type and the other two were angiomatous spindle cell lipomas. Desmin-positive and desmin-negative spindle cells showed no morphological differences. The spindle cell component expressed CD34 in all cases and Bcl-2 in 14 of the 25 cases. There was no immunoreactivity for smooth muscle actin, muscle-specific actin, or S-100 protein. We conclude that a significant proportion of spindle cell lipomas express desmin, and therefore that the immunoreactivity for this antigen does not exclude the diagnosis, even in lesions with nonclassical histological features and/or atypical locations.

Adult↗