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PubMed2003

Bone marrow evaluation in pediatric patients.

Pediatric bone marrow evaluation is often challenging, especially for pathologists with more experience evaluating bone marrow specimens from adults. This article reviews the features of several pediatric hematologic malignancies that have been selected because they illustrate the different approach required to evaluate pediatric bone marrow specimens, and highlight potential diagnostic pitfalls. The following topics have been selected for discussion: ancillary studies required for prognostication in pediatric acute lymphoblastic leukemia, the classification of pediatric acute myeloid leukemia, congenital acute leukemia and its distinction from Down syndrome-associated transient myeloproliferative disorder, diagnosis and classification of pediatric myelodysplastic syndromes, and juvenile myelomonocytic leukemia as a distinct disease entity of childhood.

Bone Marrow↗

PubMed1992

Nodular goiter: a histo-cytological study with some emphasis on pitfalls of fine-needle aspiration cytology.

A comprehensive comparative histo-cytological study of 48 nodular goiters from an endemic goiter region was undertaken. Practically all features observed on the biopsies were identified, although with less frequency, on the smears. In agreement with previous observations, characteristic components of nodular goiter (NG) in aspirates included small to medium size epithelial cells with regular round nuclei, honeycomb pattern, large follicles, papillae showing the previously mentioned epithelial features, oxyphilic cells, and moderate to abundant background colloid material and thyroid phagocytes (macrophages). All eight features occurred together in only 2% of the studied cases, seven in 6 (12.5%), six in 4 (8%), five in 6 (12.5%), four in 12 (25%), three in 6 (12.5%), two in 11 (23%), and one in 2 (4%) cases, respectively. Regardless of the number and combination of features present, specific identification of NG on the smears may not always be possible and diagnostic pitfalls include thyroid cyst, Hashimoto's thyroiditis, granulomatous lesions, and, more frequently, follicular neoplasia. Our findings suggest that thyroid aspirates should be analysed with critical clinico-pathological approach and surgery considered only for nodules that are clinically suspicious or unresponsive to hormonotherapy when a diagnosis of follicular neoplasia is made.

Biopsy, Needle↗

PubMed1988

Iodine-131 uptake in inflammatory lung disease: a potential pitfall in treatment of thyroid carcinoma.

A mixed differentiated thyroid carcinoma was found in a small asymptomatic nodule in a 44-yr-old woman with recurrent chest infections and bronchiectasis. After total thyroidectomy and 162 mCi (6 GBq) radioiodine ablation there was uptake in the thyroid remnant and in both lungs, interpreted as lung metastases. In 2 years she received further three 162 mCi (6 GBq) doses of 131I, as scans showed very similar lung activity. Another scan, during thyroxin suppression, showed again activity in the lungs. A 47-yr-old male patient with similar respiratory disease and no history of thyroid disorder volunteered to undergo radioiodine scan while on triiodothyronine suppression. His scan, too, showed concentration in the lungs. The female patient died 7 years after the diagnosis of lung thyroid metastases was made. No metastasis was found at autopsy. Radioiodine lung uptake may occur in patients with chronic inflammatory lung disease, presenting a potential diagnostic pitfall in patients with differentiated thyroid carcinoma.

Adenocarcinoma↗

PubMed1978

Ultrasonography and computer tomography in orbital diagnosis. With special reference to dysthyroid ophthalmopathy.

A report is given on a series of 162 patients referred for ultrasound examination (US, A-mode) due to orbital disease. 101 also had computerized tomography (CT, Emi scanner Mark I, 160 X 160 matrix, 8 mm sections), the results of which were emphasized in a recent publication (Gyldensted et al. 1977). The present approach is primarily clinical. With histopathological confirmation in only 40% of the cases, it is difficult to give exact values for diagnostic accuracy, but it appeared to be above 90% for CT, and close to this value for US (depending on, of course, how specified the diagnostic predictions were). Dysthyroid ophthalmopathy (DO, orbital Graves' disease, endocrine exophthalmos) was the most frequent cause of unilateral protrusion (24 cases). In some such cases "tumour-positive" CT scans represent a diagnostic pitfall, unless the examiner is familiar with the clinical features of DO. In the present series, for example, one of the DO cases had transcranial exploration of the orbit. The two--indeed valuable--non-invasive methods (CT and US) should be assessed in combination, and also combined with the classic clinical evaluation of the patient.

Adolescent↗

PubMedDate not supplied

Cytopathology of extramedullary plasmacytoma of the bladder: a case report.

BACKGROUND: Plasmacytoma of the bladder is an extremely rare tumor, with all information concerning this neoplasm derived from case reports. It can be a major diagnostic pitfall on both histology and urine cytology. CASE: A 95-year-old woman presented with gross hematuria and a large bladder mass detected by ultrasound. The case was initially misdiagnosed as a high grade urothelial carcinoma. Since the urine cytology did not show the classical cytologic features of urothelial carcinoma, the histologic sections were reviewed and immunohistochemical staining performed. The final diagnosis was plasmacytoma of the bladder. Subsequently the patient underwent a skeletal survey and bone scan, which did not reveal any lesion suspicious for multiple myeloma. The patient was scheduled for radiotherapy. CONCLUSION: In this case of bladder plasmacytoma, urine cytology provided a clue to the diagnosis. Urine cytology can be a diagnostic tool to help make this diagnosis in the case of poorly differentiated bladder neoplasm, especially in a patient with a known history of multiple myeloma.

Aged, 80 and over↗

PubMed1985

Diagnostic dilemmas of mediastinal cysts.

Children with foregut cysts of the mediastinum can present at any age with nonspecific respiratory symptoms or dysphagia. Chest radiograph and barium esophagram are recommended for initial evaluation, but they fail to identify some lesions. In other cases, an obvious mass may be confused with a solid neoplasm. We have operated upon 34 infants and children with mediastinal bronchogenic cysts and esophageal duplications from 1968 through 1985. This review of their clinical course and radiographic imaging studies emphasizes some of the diagnostic pitfalls that lead to operative delay. Twelve (35%) of these patients were asymptomatic. The correct diagnosis was delayed longer than 3 months from the onset of symptoms in 14 of the 22 symptomatic children. Fifteen of these presented with pneumonia or symptoms or airway obstruction. In 11, the cyst was in a perihilar or subcarinal location, areas in which a lesion can be "hidden" behind the cardiac silhouette. Five children with esophageal duplication had severe neonatal respiratory failure, chest pain, hematemesis or dysphagia. The immediate preop chest radiograph revealed a mass in 29 of 34 cases. However, the lesion was initially missed or never seen in eight of those who were symptomatic. Esophagram, performed in 23, was diagnostic in only six and was normal in four. Prior to 1979 when CT scanning became available at this institution, 11 of 19 children (57%) underwent extensive work-up, but the preop diagnosis was correct in only 50%. Since 1979, only 4 of 15 (26%) have required similar evaluation, and the preop diagnosis has been correct in all.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed2000

Pyogenic vertebral osteomyelitis presenting as single spinal compression fracture: a case report and review of the literature.

STUDY DESIGN: A case report of pyogenic vertebral osteomyelitis (PVO) presenting as single collapsed vertebral body without narrowing of the intervertebral disc space, and review of the literature. OBJECTIVE: To describe an unusual case of PVO showing atypical radiological change and call attention to this condition so that others may avoid this diagnostic pitfall. SETTING: Japan. METHODS: A 62-year-old diabetic woman with suspected T12 pathological fracture of malignant spinal tumor and neurological involvement received urgent anterior decompression and spinal reconstruction without biopsy. RESULTS: Anterior decompression and spinal reconstruction was performed, but histological examination of the specimen after surgery unexpectedly revealed PVO. The surgery was followed by therapy with antibiotics for 7 months. A follow-up radiograph at 5 years after surgery revealed that solid consolidation has been achieved. CONCLUSIONS: Diagnosis of PVO presenting with single spinal compression fracture is very difficult. Although the finding of the high signal intensity in the lesion equal to or higher than that of the cerebrospinal fluid on T2-weighted MR image seemed to be the most reliable diagnostic modality retrospectively, diagnosis of this type of PVO is impossible without histology. A needle biopsy before surgery is strongly recommended.

Anti-Bacterial Agents↗

PubMed2000

Fine-needle aspiration of breast carcinomas with prominent lymphocytic infiltrate.

Carcinomas of the breast with prominent lymphoplasmacytic background are commonly encountered in cytology. The aim of this study was to assess the prevalence of different types of carcinomas that share this common feature, identify possible distinguishing cytologic features, and evaluate the diagnostic pitfalls in this group of tumors. Eighteen fine-needle aspirations (FNAs) of breast carcinomas with heavy lymphoplasmacytic background were reviewed. Histologic follow-up was reviewed in all cases. Of 18 cases, there were 9 invasive ductal carcinomas (IDC), and 9 medullary carcinomas (6 typical and 3 atypical). FNAs from typical medullary carcinomas (TMC) showed more severe nuclear atypia and macronucleoli than the cases of IDC and atypical medullary carcinomas (AMC). Gland formation was absent in the TMC but was common in IDC and AMC. No cytologic differences were noted between IDC and AMC. Nucleoli were larger in TMC (mean 4, microm) than in AMC (mean, 2 microm) and IDC (mean, 1.5 microm). We conclude that lymphocytes and plasma cells may be seen in different types of breast carcinomas and should not be considered a diagnostic feature of TMC. Features potentially helpful in the cytologic differential diagnosis of a carcinoma with prominent lymphoplasmacytic background are nucleolar size (4 microm in MC, vs. 1.5 and 2 microm in IDC and AMC, respectively) and the degree of nuclear atypia. Lymphocytosis may be part of the carcinoma or may originate from a lymph node involved by metastases. In rare cases, a prominent neutrophilic infiltrate may also be present.

Adult↗

PubMed1998

When noncongophilic glomerular fibrils do not represent fibrillary glomerulonephritis: nonspecific mesangial fibrils in sclerosing glomeruli.

In addition to fibrillary glomerulonephritis (FGN), Congo red negative mesangial fibrils may commonly be seen in sclerosing glomerular diseases. Rarely, these nonspecific mesangial fibrils (NMF) may mimic fibrils in FGN and cause a differential diagnostic pitfall. Following an interesting case of sclerosing crescentic glomerulonephritis with abundant NMF (which is presented in some detail) we have reviewed our renal biopsy files for a period of two and a half years and found additional 16 cases where the presence of NMF warranted studies to exclude FGN and other diseases with fibrillary deposits. The immunofluorescence pattern characteristically seen in FGN was not present in any of these cases. Our data confirm that mesangial fibrillary material seen ultrastructurally in sclerosing glomeruli with negative or nonspecific immunofluorescence (IF) represents a nonspecific reaction of the mesangial matrix to chronic glomerular injury. The presence of NMF should not lead to the erroneous diagnosis of FGN. Negative or nonspecific immunofluoresence, localization to the mesangium in a usually segmental fashion, and the more bundle-like than random arrangement of fibrils are helpful diagnostic hints in differentiating NMF from fibrils in FGN.

Actin Cytoskeleton↗

PubMed1984

Infradiaphragmatic total anomalous pulmonary venous drainage: new diagnostic, physiologic, and surgical considerations.

Numerous diagnostic pitfalls were noted among 6 infants with infradiaphragmatic total anomalous pulmonary venous drainage, including prolonged moderate respiratory distress in 2 infants, normal cardiac examination in 2, normal electrocardiograms in 2, arterial PO2 in excess of 100 torr in 3 cases, right radial/umbilical arterial PO2 gradients consistent with significant right-to-left ductal shunting in 2 of 4 cases, misleading M-mode echocardiography in 2 of 4 cases, and missed diagnosis at initial cardiac catheterization despite pulmonary angiography in 1 case. Helpful radiographic features included small heart, congested lungs, and pleural effusions in all 6 cases, and visualization of the anomalous trunk overlying the liver on slightly rotated abdominal flat plates in both cases so examined. Bedside umbilical venous catheterization was pathognomonic in 3 cases and suggestive of the diagnosis in the fourth case. Cross-sectional echocardiography was diagnostic in the 1 case in which it was employed. Intraoperative and postoperative pulmonary hypertension led to the demise of the 4 infants who survived long enough to undergo surgery. In addition to early diagnosis, measures to insure maximal decompression of the pulmonary circuit at surgery should improve survival.

Cardiac Catheterization↗

PubMed2002

Recurrent pulmonary embolism in a 13-year-old male homozygous for the prothrombin G20210A mutation combined with protein S deficiency and increased lipoprotein (a).

We report the case of a 13-year-old male presenting with recurrent symptoms of respiratory distress after a trauma of the lower limb. Pulmonary symptoms had been misinterpreted for several weeks and only marked symptoms of deep venous (DVT) and caval vein thrombosis later prompted the correct diagnosis of DVT and embolic events and subsequently a successful thrombolytic therapy. The case reported here shows a diagnostic pitfall of pulmonary embolism in an adolescent. It emphasizes the need to consider the possibility of thromboembolic events also in young children and adolescents presenting with atypical pulmonary symptoms and suffering from pulmonary diseases not responding to antibiotic therapy. In addition, although the homozygous PT A20210A gene mutation is a rare defect and its relevance as a risk factor on its own remains to be elucidated, this case suggests that a complete thrombophilia laboratory workup should be performed in young patients with a first symptomatic thromboembolic onset.

Adolescent↗

PubMed2006

Unusual variants of malignant melanoma.

A potential diagnostic pitfall in the histologic assessment of melanoma is the inability to recognize unusual melanoma variants. Of these, the more treacherous examples include the desmoplastic melanoma, the nevoid melanoma, the so-called 'minimal-deviation melanoma,' melanoma with prominent pigment synthesis or 'animal-type melanoma,' and the malignant blue nevus. Also problematic are the unusual phenotypic profiles seen in vertical growth phase melanomas; these include those tumors whose morphological peculiarities mimic cancers of nonmelanocytic lineage and those melanomas that express aberrant antigenic profiles not commonly associated with a melanocytic histogenesis. Metaplastic change in melanoma, balloon cell melanoma, signet-ring cell melanoma, myxoid melanoma, small cell melanoma and rhabdoid melanoma all have the potential to mimic metastatic and primary neoplasms of different lineage derivations. Abnormal immunohistochemical expression of CD 34, cytokeratins, epithelial membrane antigen, and smooth muscle markers as well as the deficient expression of S100 protein and melanocyte lineage-specific markers such as GP100 protein (ie HMB-45 antibody) and A103 (ie Melan-A) also present confusing diagnostic challenges. In this review, we will discuss in some detail certain of these novel clinicopathologic types of melanoma, as well as the abnormal phenotypic expressions seen in vertical growth phase melanoma.

Antigens, Neoplasm↗

PubMed1997

Sources of diagnostic error in the fine-needle aspiration diagnosis of Warthin's tumor and clues to a correct diagnosis.

Squamous metaplasia and cystic degeneration in Warthin's tumor (WT) are not uncommon. A recent case of WT misdiagnosed as metastatic squamous carcinoma with cystic change prompted us to review our experience with fine-needle aspiration (FNA) of WT, with special attention given to potential sources of diagnostic pitfalls. Aspirations from 16 cases of histologically confirmed WT were retrospectively evaluated for cellularity, cell composition, and background. The FNA review diagnosis was compared with the previous FNA and corresponding tissue findings. All tumors presented in the parotid gland. The initial cytologic diagnoses were: WT in 13 cases, oncocytoma vs. low-grade mucoepidermoid carcinoma in 1, squamous carcinoma vs. branchial cleft cyst in 1, and squamous carcinoma in 1. On review, 13 cases (81%) showed typical features associated with WT: Moderate to abundant oncocytic epithelium, lymphoid stroma, background debris, and mild squamous metaplasia. In the remaining cases, one lacked a lymphoid stroma and could not be further classified (initially called "oncocytoma vs. low-grade mucoepidermoid carcinoma"). The other 2 cases contained moderate to abundant atypical squamous cells and extensive necrotic/mucoid debris, and review diagnoses were consistent with the initial cytologic diagnoses (squamous carcinoma in one, and branchial cleft cyst vs. squamous carcinoma in the other). In our series, typical features of WT were seen in 81% of cases. Atypical features are largely present as individual metaplastic squamous cells. Diagnostic errors are caused by a lack of typical features and the presence of individual atypical squamous cells in a necrotic background mimicking carcinoma. An awareness of the morphologic variation present on cytologic preparations and correlation with clinical findings should prevent erroneous interpretation in the FNA setting.

Adenolymphoma↗

PubMed2004

Sublabral sulcus at the posteroinferior acetabulum: a potential pitfall in MR arthrography diagnosis of acetabular labral tears.

OBJECTIVE: Our study correlated findings on hip MRI and MR arthrography with hip arthroscopy to assess the location, prevalence, and potential pitfall of a normal acetabular sublabral sulcus. MATERIALS AND METHODS: We retrospectively collected 58 hip MRI studies along with surgical reports in 58 patients who underwent hip arthroscopy over a 5-year period. Intraoperative photography (n = 23), radiography (n = 56), unenhanced MRI (n = 13), and MR arthrography (n = 54) studies were available for review. Two radiologists described hip anatomy on radiology studies with agreement by consensus. RESULTS: A normal posteroinferior sublabral groove was confirmed on available arthroscopy photographs in four (17.4%) of 23 hips. In each of these four patients, the anatomic sublabral groove correlated with apparent partial labral detachment on MR arthrography. On review of all studies, 13 hips (22.4%) without a posterior labral tear at surgery had imaging findings of a sublabral sulcus. The sulcus was not associated with acetabular dysplasia, which was radiographically noted in 12 cases (21.4%). Preoperatively, the sulcus was misdiagnosed as a tear in two cases. Labral tears were anterior or anterosuperior in 51 patients. CONCLUSION: A posteroinferior sublabral groove is a relatively common normal anatomic hip variation. If not recognized as normal, the sulcus may serve as a diagnostic pitfall on MR arthrography. Its location is distinct from most labral tears. We did not discover a sublabral sulcus at the anterior or anterosuperior acetabulum, the most common sites of labral injury.

Acetabulum↗

PubMed1980

[Comparison of mono and bidimensional echocardiography in the diagnosis of atrial myxoma].

The diagnosis of atrial myxoma, the most common cardiac tumour, has been greatly facilitated by the introduction of echocardiography. The principal echocardiographic features and the diagnostic pitfalls encountered in a personal series of 7 atrial myxomas (5 left and 2 right) studied by M mode and 2-dimensional echocardiography are reported. In M mode, left atrial myxoma is a relatively easy diagnosis when the tumour prolapses into the mitral orifice. On standard mitro-aortic scanning, it is recorded behind the anterior mitral leaflet as a mass of abnormal echos appearing shortly after mitral valve opening. The diagnosis is much more difficult or even impossible in nonprolapsing tumours. Right atrial myxomas, prolapsing into the tricuspid orifice, do not usually pose any diagnotic problems. 2-dimensional echocardiography shows its superiority in the early diagnosis of small, localised, relatively immobile and non-prolapsing tumours. The parasternal (long axis and transverse views), the apical (4 and 2 chamber views) and subxiphoid positions were the most useful incidences and the tumour was visualised as a more or less circumscribed mass of echos. In all cases, 2-dimensional echo provided information on the size, mobility, insertion and the length of the pedicle of the tumour. Atrial myxoma is being recognised more easily and more often nowadays by echocardiography, the diagnostic method of choice, and 2-dimensional studies should be preferred.

Adult↗

PubMed1987

Computed tomography of the aortopulmonary window: normal anatomy and pathology.

There can be many diagnostic pitfalls in the evaluation of the aortopulmonary window by chest radiography alone. Large masses that are easily identified on computed tomography may be essentially undetectable; also the appearances of aortopulmonary window lesions on conventional radiographs are frequently nonspecific, or may even be misleading. Careful evaluation of this region of the mediastinum is important because the aortopulmonary window is commonly the site of adenopathy secondary to neoplastic and inflammatory diseases, as well as vascular pathology. After review of the normal anatomy of the aortopulmonary window, seven selected cases are presented that demonstrate the importance of computed tomography in arriving at the correct diagnosis when conventional chest radiographs are nonspecific or equivocal.

Adult↗

PubMed2005

Assessment of HOPE fixation in vitrectomy specimens in patients with chronic bilateral uveitis (masquerade syndrome).

BACKGROUND: Cytological examination of rapidly transported, unfixed vitreous specimens is considered the gold standard in exclusion of primary intraocular lymphoma (PIOL) in patients with idiopathic steroid resistant chronic uveitis. These specimens are difficult to interpret, and reports of "false negatives" or "false positives" are common. Fixation using HOPE solution (Herpes-glutamic acid buffer mediated Organic solvent Protection Effect) has been successfully applied in the investigation of cytospin preparations using immunocytology, in situ hybridisation and polymerase chain reaction (PCR). The purpose of this study was to compare the cytologic features of vitrectomy specimens from patients with clinical reactive vitritis and PIOL prepared following HOPE fixation with those in conventional cytospins and to identify any diagnostic pitfalls. METHODS: Pars plana vitrectomy was performed in 15 cases of patients with chronic uveitis. The vitreous samples were halved: one half was fixed in HOPE solution; the other half remained unfixed. All samples were subject to conventional staining, immunocytology and clonality analysis using polymerase chain reaction (IgH-PCR) and GeneScan. The specimens were assessed following by two pathologists who were masked to the cytological preparation method. The specimens were evaluated for cellularity, cellular appearance, cytoplasmic and nuclear features as well as quality of the immunostains. RESULTS: Twelve of the fifteen vitreous samples were diagnosed as reactive vitritis; in three specimens, a primary intraocular lymphoma of B-cell type was diagnosed. Compared to the unfixed vitreal specimens, the quality of the cytomorphology and immunocytology improved in the HOPE-fixed specimens. IgH-PCR and GeneScan analysis demonstrated polyclonal amplification products in the reactive cases, and monoclonal B-cell populations in the B-PIOL. CONCLUSION: Our results demonstrate that cytomorphology and immunoreactivity of vitreous specimens are well preserved following HOPE fixation. DNA of sufficient quality could be extracted from HOPE-fixed vitreous biopsies, in order to perform clonality analyses. HOPE fixation appears to be promising in simplifying the transportation of these specimens, and may improve the diagnostic reliability of vitreous specimens in patients with masquerade syndrome.

Adult↗

PubMedDate not supplied

Nephrolithiasis with unusual initial symptoms.

OBJECTIVE: To describe a less common initial symptom of nephrolithiasis, its diagnostic pitfalls, risk factors, and mimicry of other conditions. Intervention and long-term management of nephrolithiasis is also discussed. CLINICAL FEATURES: A Caucasian man aged 25 years had sudden bilateral inguinal and occasional periumbilical pain. The initial symptom suggested an abdominal pathologic condition; however, costovertebral angle pain followed 1 hour later with no radiation between the 2 anatomic sites. The initial urine dipstick result was negative for hematuria, but a kidney, ureter, and bladder radiograph revealed a smooth 2-mm x 3-mm stone lodged at the left: vesico-ureteral junction. INTERVENTION AND OUTCOME: The patient was referred to a regional university medical center to receive extracorporeal shockwave lithotripsy several days after his initial visit. He was given pain medicine for the waiting period and received daily lumbar spine adjustments with a mild reduction in pain. He eventually received ureteroscopic laser lithotripsy because the shock-wave unit had malfunctioned before his appointment. The fragment analysis showed a calcium oxalate composition, and the patient was advised to lower his intake of oxalates. The patient had become a vegetarian approximately 3 months before this first stone episode. CONCLUSION: Nephrolithiasis is a condition commonly seen in chiropractic practice. Although it is usually easy to recognize, the diagnosis can be elusive if the typical historic factors and diagnostic results are absent or altered. The short-term management of nephrolithiasis is pain management, stone elimination, and the collection of a specimen to identify the composition and underlying metabolic abnormality. Long-term management is to prevent the recurrence of stones. Conservative comanagement by the chiropractic physician can be implemented through nutritional means.

Abdominal Pain↗