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Chromophobe renal cell carcinoma with microcystic and adenomatous arrangement and pigmentation--a diagnostic pitfall. Morphological, immunohistochemical, ultrastructural and molecular genetic report of 20 cases.

We present clinical, morphological, immunohistochemical, ultrastructural and molecular genetic features of 20 cases of a peculiar form of chromophobe renal cell carcinoma (CRCC) with morphology differing from that of conventional CRCC. Microscopically, the typical features of the tumors were microcystic arrangement and formation of adenomatous structures. Microcystic areas were composed of smaller eosinophilic and bigger pale cells having cytological appearance typical of conventional CRCC. Cytological features of the adenomatous structures were mostly different from those of conventional CRCC. They had a typical columnar arrangement with nuclei positioned at the base of the glandular structures and a small amount of a deeply eosinophilic cytoplasm often endowed with brush border facing the lumen of the glands. In addition, all the tumors showed a brown pigmentation. The pigmentation was located mostly extracellularly, where it formed pools of heavy deposits. Microscopic calcifications present in all cases formed psammoma bodies or else the calcifications were more extensive and amorphous in shape. Ultrastructurally, the cells showed features characteristic of CRCC: typical cytoplasmic vesicles were 100-700 nm in size and mitochondria had tubulovesicular, lamellar or circular cristae. Some tumor cells contained dark, variously sized electron-dense pigment granules. Neither melanosomes nor membrane-bound neurosecretory granules were seen. Using fluorescence in-situ hybridization probes for chromosomes 1, 2, 6, 10, 13, 17 and 21, the tumors revealed massive loss of tested chromosomes typical for conventional CRCC. Monosomy of chromosomes 1, 2, 6, 10, 13 and 21 was found in 100, 36, 91, 82, 82, 82 and 64% of cases, respectively. None of the cases showed mutation of exons 9, 11, 13 and 17 of the c-kit gene. The important feature of pigmented microcystic chromophobe renal cell carcinoma is a relatively benign biological behavior and the absence of distant metastases and sarcomatoid transformation.

Adenoma, Oxyphilic↗

Prolapse of the fallopian tube after hysterectomy associated with exuberant angiomyofibroblastic stroma response: a diagnostic pitfall.

We report two cases of prolapse of the fallopian tube associated with an exuberant angiomyofibroblastic stroma response, which occurred after hysterectomy and which is a hitherto unreported feature of this lesion. The tumors were composed of richly vascularized stroma arranged in a retiform pattern and mildly atypical glandular inclusions, which had the morphology of tubal epithelium. The stroma of the lesion was composed of either thin bipolar cells with tapered nuclei and stellate-shaped cells with minimal amount of cytoplasm or small epithelioid-looking cells with eosinophilic cytoplasm. The tubal glandular inclusions displayed mildly atypical nuclear features. If the tubal glandular component was overlooked, these tumors might be erroneously diagnosed as mesenchymal lesions of the vagina, such as vaginal fibroepithelial polyp, angiomyofibroblastoma, aggressive angiomyxoma, or superficial myofibroblastoma.

Adult↗

Lipomatous myofibroblastoma: a potential diagnostic pitfall in the spectrum of the spindle cell lesions of the breast.

We report on two cases of myofibroblastoma (MFB) of the breast comprised predominantly of a mature fatty component, representing approximately three quarters of the entire tumour area. Both tumours consisted of a well-circumscribed lipomatous tumour mass containing dispersed nodular or irregularly shaped spindled cellular areas. The fatty component was represented exclusively by mature adipocytes, uniform in size and shape, lacking nuclear pleomorphism. The cellular areas contained spindly to oval cells with morphological and immunophenotypical features typical of MFB. The two components were so intimately admixed that a finger-like infiltrating growth pattern was apparent. The cases reported here as "lipomatous MFB" aim to clarify further the morphological spectrum of MFB of the breast. Lipomatous MFB may potentially mimic other benign or aggressive tumour-like lesions or even bland-looking malignant spindle cell tumours such as fibromatosis, nodular fasciitis, spindle cell lipoma, spindle cell liposarcoma, spindle cell variant of metaplastic carcinoma, spindle cell malignant myoepithelioma, and low-grade fibrosarcoma/malignant fibrous histiocytoma. The histogenesis of the present bimorphic mesenchymal tumours could be explained as the result of a dual, myofibroblastic and lipomatous, differentiation from a common pluripotential mesenchymal precursor cell, probably represented by the vimentin+/CD34+ fibroblast of the mammary stroma.

Aged↗

Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls.

UNLABELLED: We report on a boy who suffered from microcephaly, growth retardation, cardiomyopathy and hepatic dysfunction. When he had his first febrile infection at the age of 3 months he showed metabolic decompensation. Laboratory parameters and clinical features were compatible with a beta-oxidation defect or a respiratory chain disorder. Measurement of beta-oxidation enzymes showed long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency; determination of respiratory chain complex activities revealed complete absence of complex I, II, III and IV activities in skeletal muscle and reduced activities of complexes II and IV in cultured fibroblasts, with secondary dysregulation of ATP synthase. The patient was found to be homozygous for the MTP:G1528 C mutation (LCHAD-deficiency). CONCLUSION: This patient had LCHAD deficiency as his primary metabolic disorder, leading to secondary inhibition of respiratory chain enzymes by 'toxic' metabolites.

3-Hydroxyacyl CoA Dehydrogenases↗

Oral hairy leukoplakia in HIV infection: a diagnostic pitfall.

Twenty-nine human immunodeficiency virus (HIV)-infected patients with white, nonremovable lesions on the lateral border of the tongue, clinically suggestive of oral hairy leukoplakia (HL), were studied. In particular, the value of local antifungal therapy in establishing the diagnosis of HL was investigated. In 15 patients (52%) the lesions could be ultimately attributed to a candidal infection of the tongue. In 10 of the remaining 14 patients, a biopsy was obtained from lesions persisting after local antifungal treatment. In all biopsy specimens, the diagnosis of HL was confirmed by histopathologic examination and the demonstration of Epstein-Barr virus DNA by polymerase chain reaction, Southern blot hybridization, and DNA in situ hybridization. The present data confirm that the diagnosis of HL in HIV-infected patients cannot be reliably made on clinical criteria alone, but requires histopathologic confirmation including the demonstration of Epstein-Barr virus DNA, preferably by DNA in situ hybridization. However, with regard to the differential diagnosis of white, nonremovable lesions on the lateral border of the tongue in HIV-infected patients, the present study suggests that persistence of lesions after local antifungal therapy is highly suggestive of HL.

Adolescent↗

Preclinical cancer of the cervix: diagnostic pitfalls.

This paper outlines the pitfalls encountered in the diagnosis of 127 preclinical cancers of the cervix. Each patient had cervical cytology, colposcopy, and histology performed within the same institution. Early stromal invasion was diagnosed in 55 patients and occult invasion was diagnosed in 72 patients. For preclinical cancers as a group, the possibility of invasive carcinoma was predicted cytologically in 36% and suspected colposcopically in 41%. However, in over 85% of patients the abnormal transformation zone (TZ) extended into or was totally confined within the endocervical canal and could not be adequately evaluated with the colposcope. A feature of this study was the high incidence of incomplete excision of abnormal tissue by cone biopsy and a high incidence of residual disease at hysterectomy. Cone biopsy was necessary to accurately assess the maximum depth and extent of invasion prior to definitive therapy whenever invasion was suspected colposcopically or on target biopsy. In 10 of 16 such patients, the cone biopsy demonstrated occult invasion. Colposcopy and directed target biopsy alone was adequate for the diagnosis of frank invasive cancer in 22 of the 72 patients in the occult invasion group, enabling definitive therapy to be undertaken without further delay.

Adenocarcinoma↗

Low-grade malignant perineurioma (perineurial sarcoma) of soft tissue: a potential diagnostic pitfall on fine needle aspiration.

A case of low-grade malignant perineurioma presenting as a mass in the thigh is described. The patient was a 76-year-old woman with an enlarging painful mass on her right lateral thigh over the past 2 months. Thorough clinical and radiological studies did not reveal any evidence of tumor elsewhere. The patient underwent fine needle aspiration of the mass, which revealed pleomorphic spindle cells in small clusters or dispersed as single cells within myxoid stroma, cytologically consistent with a high-grade sarcoma. At surgery, the tumor was found to be entirely confined within the muscle. Grossly, the tumor measured 6.5 cm in greatest diameter and showed a gray-white fleshy cut surface that was well circumscribed but unencapsulated. Histologic examination showed a highly cellular spindle cell proliferation embedded within myxoid stroma. The tumor cells showed mild to moderate nuclear pleomorphism with minimal mitotic activity. No evidence of hemorrhage or necrosis was noted. The tumor irregularly invaded the surrounding skeletal muscle. Immunohistochemical studies showed weak membranous positivity for epithelial membrane antigen and focal cytoplasmic positivity for CD34; stains for smooth muscle actin, cytokeratin AE1/AE3, desmin, CD56, H-caldesmon, calponin, and S-100 protein were negative. Electron microscopy showed cells with thin, elongated cytoplasmic processes extending along connective tissue in a parallel, onion-like arrangement and prominent subplasmalemmal pinocytotic activity. The marked pleomorphism displayed on fine needle aspiration observed in this case can lead to a mistaken diagnosis of high-grade sarcoma resulting in unnecessarily aggressive management.

Aged↗

Basaloid squamous carcinoma of the larynx. A potential diagnostic pitfall.

Basaloid squamous carcinoma is a rare variant of squamous cell carcinoma. It is frequently diagnosed at an advanced stage with metastases. Histologically, it is identical to basaloid carcinoma at other anatomical sites. Some authors suggest that it may be associated with second primary tumors. Others implicate the Epstein-Barr and human papilloma viruses. All reports but one warn of its aggressive biological behavior. Our case concerns a 52-year-old man who had a small lesion in his right cord. Biopsy of the lesion was performed twice, and conventional squamous cell carcinoma was diagnosed; the patient returned 2 months later with progressed metastatic disease. The patient underwent a laryngectomy and a complete clinical and immunohistochemical investigation. Basaloid squamous carcinoma is a totipotential neoplasm with a grave prognosis. It can be misdiagnosed; therefore, the authors would like to emphasize the significance of this condition in comparison to conventional squamous cell carcinoma, and we provide a review of the relevant recent literature.

Carcinoma, Squamous Cell↗

Malignant and benign compression fractures: differentiation and diagnostic pitfalls on MRI.

The distinction between malignant and benign compression fractures is a common problem in clinical practice. Various imaging techniques (plain radiography, computed tomography, bone scintigraphy) have been used to differentiate these conditions but they are often inadequate in distinguishing the nature of compression fracture. This review illustrates the magnetic resonance imaging (MRI) features of malignant and benign compression fractures with emphasis on the usefulness, limitations and pitfalls of MRI.

Back Pain↗