Prebiopsy Diagnosis Research Articles

Digital dermatofibromas - Common lesion, uncommon location: A series of 26 cases and review of the literature

Dermatofibroma (DF), also referred to as cutaneous fibrous histiocytoma (CFH), is a common tumor of the skin presenting as a firm nodule located predominantly on the limbs and shoulder and pelvic girdles that often extends into superficial subcutaneous tissue. This is a retrospective study of 26 DFs located on digits. All case slides were retrieved from saved files for diagnostic verification. One case was rejected after revision of the diagnosis to giant cell tumor of the tendon sheath. The 26 remaining cases constitute this reported series. Digital DFs affected 27 to 70 year-olds in a 2.25:1 male to female ratio. The most common clinical diagnosis submitted was "growth" or wart. In only 6 out of the 26 cases was the pre-biopsy diagnosis of DF ventured. Although lesional tissue went to dermal margins in 14 specimens, only one has been re-excised in follow up ranging from 2 months to 10 years. Because DFs can resemble several entities including leiomyosarcoma and dermatofibrosarcoma protuberans, a lack of familiarity with the occurrence of DF on the digits may result in more aggressive treatment than otherwise necessary. DF should be in the differential diagnosis of circumscribed, firm nodules presenting on the digits.

Role of Clinically Indicated Transbronchial Lung Biopsies in the Management of Pediatric Post–Lung Transplant Patients

Although transbronchial biopsy (TBB) is the definitive method for diagnosing graft dysfunction after pediatric lung transplantation, concern over procedural complications has limited its use. We reviewed our institutional experience with clinically indicated TBB to determine its safety and efficacy with emphasis on how biopsy findings altered management. A retrospective chart review was done of 61 pediatric lung transplantation patients undergoing 179 TBB procedures. Data were collected on pre-TBB symptoms, pulmonary function testing, and imaging studies. The prebiopsy diagnosis was noted and compared with the findings from TBB to see how frequently treatment changed after biopsy. Age at TBB ranged from 2 months to 20 years, with an average of 3 biopsies per patient. There was no procedure-related mortality. The incidence of complications was 9% and included important bleeding with spontaneous resolution in 6% and pneumothorax in 3%. The usual indication for TBB was a change in the chest roentgenogram, frequently accompanied by a decrease in flows on spirometry. The TBB specimens were adequate for pathologic analysis 92% of the time, and a specific pathologic diagnosis could be made in 54% of cases. The findings from TBB altered the clinical management of the patient 64% of the time. In pediatric lung transplant recipients presenting with graft dysfunction, TBB is a low-risk diagnostic procedure that yields clinically useful information in a majority of cases. In our experience, the findings from TBB altered medical treatment in 64% of patients. Treatment was most often changed in the group diagnosed with rejection as the probable cause of graft dysfunction.

IMPACT OF BRAIN BIOPSY ON THE MANAGEMENT OF PATIENTS WITH NONNEOPLASTIC UNDIAGNOSED NEUROLOGICAL DISORDERS

We sought to assess the diagnostic yield, complication rates, and therapeutic impact of open brain biopsy and serial stereotactic brain biopsy in the management of patients with nonneoplastic neurological conditions in which conventional investigations did not yield a definitive diagnosis. A retrospective case note analysis was undertaken in consecutive patients undergoing brain biopsy at The Walton Centre for Neurology and Neurosurgery during a 15-year period. The diagnostic yield, prebiopsy diagnostic category, biopsy technique (open versus stereotactic), complication rates, and impact on clinical management were assessed. Biopsies were grouped into one of five categories: diagnostic, suggestive, nonspecific, normal, or nondiagnostic. Thirty-nine patients underwent biopsy. The diagnostic yield (combined diagnostic and suggestive) of targeted serial stereotactic biopsy was 64% (seven of 11 patients); in the open brain biopsy group, the diagnostic yield was 46% (13 of 28 patients). The prebiopsy diagnosis was confirmed in 100% (three of three patients) stereotactic biopsy patients and 75% (nine of 12 patients) of open biopsy patients. Two patients (7%) in the open biopsy group had short-term complications. The clinical impact was similar in both groups: nine of 28 (32%) open biopsy patients and four of 11 (36%) stereotactic biopsy patients. Despite the low clinical impact, diagnostic brain biopsy should be considered in patients with nonneoplastic undiagnosed neurological disorders. Patients with neuroimaging abnormalities should preferentially undergo targeted biopsy.

Radiological features of synovial cell sarcoma

Synovial cell sarcoma is an uncommon soft-tissue malignant tumour. These tumours have common radiological features with a variety of both benign and malignant lesions. However, there is a variety of imaging findings that can suggest a pre-biopsy diagnosis of synovial cell sarcoma. This pictorial review aims to describe the imaging features of synovial sarcoma in a series of cases with various age ranges and tumour locations. In addition, the pathology, staging, prognosis and management of synovial sarcoma is briefly discussed.

Therapeutic impact of percutaneous spinal biopsy in spinal infection

Objective: To investigate the therapeutic impact of percutaneous spinal biopsy in patients with suspected spinal infection. Design and patients: A review of the case notes and imaging features of 36...

Intramuscular myxoma: characteristic MR imaging features.

The purpose of our study was to identify the characteristic MR imaging features of intramuscular myxoma. We retrospectively reviewed the MR imaging features of 20 patients with intramuscular myxoma. Clinical assessment included the age and sex of the patient and location of the tumor. Radiologic evaluation included the lesion size and shape, border definition, signal on T1- and T2-weighted or fluid-sensitive MR sequences, enhancement pattern, presence or absence of a fat rind, and presence or absence of increased signal in the adjacent muscle on T2-weighted or fluid-sensitive MR sequences. The mean age of patients presenting with intramuscular myxoma was 61 years (range, 15-85 years; median, 64 years). The mean lesion size was 6.9 cm (range, 3-17 cm; median, 6.3 cm). A peritumoral fat rind was present in 13 of the patients (65%) with myxoma, and an increased signal in the adjacent muscle on fluid-sensitive sequences was present in 11 patients (55%). Intramuscular myxomas were homogeneously low in signal intensity on T1-weighted MR sequences in 19 patients (95%), with all lesions showing a high signal intensity on T2-weighted or fluid-sensitive MR sequences. Twelve of the myxomas had well-defined borders, and eight had borders that were partially ill defined. Of the 11 lesions imaged after gadolinium administration, six (55%) showed intense heterogeneous enhancement. Findings of a mass that on MR images shows a perilesional fat rind, the signal intensity of fluid, and an increased signal in the adjacent muscle on T2-weighted or fluid-sensitive MR sequences are strongly suggestive of intramuscular myxoma. The degree of lesion enhancement varies but is most frequently intense and heterogeneous. Although the recognition of these features likely will not obviate biopsy of any individual lesion, it will allow more accurate prebiopsy diagnosis and preoperative planning.

The diagnostic value of liver biopsy.

BackgroundSince the introduction of molecular diagnostic tools such as markers for hepatitis C and different autoimmune diseases, liver biopsy is thought to be useful mainly for staging but not for diagnostic purposes. The aim was to review the liver biopsies for 5 years after introduction of testing for hepatitis C, in order to evaluate what diagnostic insights – if any – remain after serologic testing.MethodsRetrospective review of all liver biopsies performed between 1.1.1995 and 31.12.1999 at an academic outpatient hepatology department. The diagnoses suspected in the biopsy note were compared with the final diagnosis arrived at during a joint meeting with the responsible clinicians and a hepatopathologist.ResultsIn 365 patients, 411 diagnoses were carried out before biopsy. 84.4 % were confirmed by biopsy but in 8.8 %, 6.8 % and 10.5 % the diagnosis was specified, changed or a diagnosis added, respectively. Additional diagnoses of clinical relevance were unrecognized biliary obstruction and additional alcoholic liver disease in patients with chronic hepatitis C. Liver biopsy led to change in management for 12.1 % of patients.ConclusionEven in the era of advanced virological, immunological and molecular genetic testing, liver biopsy remains a useful diagnostic tool. The yield is particularly high in marker negative patients but also in patients with a clear-cut prebiopsy diagnosis, liver biopsy can lead to changes in patient management.

The utility of skin biopsies in pediatric cancer patients: a single-institution, retrospective review.

Medical records of all patients who were diagnosed with a malignancy and who underwent a skin biopsy were reviewed to determine the clinical utility of skin biopsies in this population. Skill biopsies resulted in a change or refinement of the prebiopsy diagnosis in 44% of patients undergoing an initial evaluation for a malignancy, 57% of patients on therapy, and 17% of patients off therapy. Skin biopsies led to a change in therapy in 26%, 34%, and 17% of each respective group. Overall, the skin biopsy changed or refined the prebiopsy diagnosis in 45% of cases and altered therapy in 38%. Skin biopsy is a clinically useful tool in pediatric oncology patients for the evaluation of cutaneous findings that elude diagnosis by visual inspection.

An assessment of the role of liver biopsies in asymptomatic patients with chronic liver test abnormalities

OBJECTIVE: The role of liver biopsy in the management of patients with nonspecific chronic liver enzyme abnormalities is not well established. The aim of this study is to determine whether liver histology changes the clinical impression formed before liver biopsy and the preliminary management plan. METHODS: Consenting asymptomatic adult patients with persistent (≥6 months) liver test abnormalities were enrolled. Patients with a strong suspicion for a specific liver disease were excluded. A presumptive diagnosis and a preliminary management plan were documented before a liver biopsy. After the liver biopsy, the patients were reassessed to determine the effect of the biopsy on the diagnosis and management plan. RESULTS: A total of 36 patients were enrolled: 15 men and 21 women, with a median age of 51 yr. The prebiopsy diagnoses were nonalcoholic steatohepatitis (24), autoimmune hepatitis (3), primary biliary cirrhosis (2), primary sclerosing cholangitis (2), and miscellaneous (5 patients). The liver biopsy changed the diagnosis in 14% of cases. Lifestyle recommendations were not significantly altered by the biopsy. The liver biopsy affected the frequency of liver test monitoring in 13 patients (36%). Treatment recommendations were affected in 12 cases, 10 of whom were offered investigational therapy. CONCLUSIONS: Although a liver biopsy may help to definitively establish the final diagnosis in patients, the results alter the presumptive prebiopsy diagnosis infrequently, and no proven therapy exists for the vast majority of these patients. Therefore, the risks and benefits of a liver biopsy should be carefully weighed, especially in settings in which investigational therapies are unavailable.

An assessment of the role of liver biopsies in asymptomatic patients with chronic liver test abnormalities.

The role of liver biopsy in the management of patients with nonspecific chronic liver enzyme abnormalities is not well established. The aim of this study is to determine whether liver histology changes the clinical impression formed before liver biopsy and the preliminary management plan. Consenting asymptomatic adult patients with persistent (> or = 6 months) liver test abnormalities were enrolled. Patients with a strong suspicion for a specific liver disease were excluded. A presumptive diagnosis and a preliminary management plan were documented before a liver biopsy. After the liver biopsy, the patients were reassessed to determine the effect of the biopsy on the diagnosis and management plan. A total of 36 patients were enrolled: 15 men and 21 women, with a median age of 51 yr. The prebiopsy diagnoses were nonalcoholic steatohepatitis (24), autoimmune hepatitis (3), primary biliary cirrhosis (2), primary sclerosing cholangitis (2), and miscellaneous (5 patients). The liver biopsy changed the diagnosis in 14% of cases. Lifestyle recommendations were not significantly altered by the biopsy. The liver biopsy affected the frequency of liver test monitoring in 13 patients (36%). Treatment recommendations were affected in 12 cases, 10 of whom were offered investigational therapy. Although a liver biopsy may help to definitively establish the final diagnosis in patients, the results alter the presumptive prebiopsy diagnosis infrequently, and no proven therapy exists for the vast majority of these patients. Therefore, the risks and benefits of a liver biopsy should be carefully weighed, especially in settings in which investigational therapies are unavailable.

Prospective study of the usefulness of sural nerve biopsy

OBJECTIVEThis study aimed to determine the usefulness of sural nerve biopsy in neurological practice.METHODSThe first prospective study of sural nerve biopsy in 50 consecutive patients was undertaken. The investigating neurologist...

RECOGNITION AND MANAGEMENT OF UNUSUAL CUTANEOUS TUMORS

This article has briefly outlined some of the more unusual cutaneous neoplasms that may be encountered in a dermatologic practice. Although rare, they must always be kept in mind and included in the differential diagnosis. Because of the highly aggressive nature of many of these tumors, delay in diagnosis and treatment could be fatal. A high level of suspicion is necessary for the correct prebiopsy diagnosis.

Brain biopsy in patients with acquired immunodeficiency syndrome: diagnostic value, clinical performance, and survival time.

Despite extensive discussion in recent years, brain biopsy in patients positive for human immunodeficiency virus who manifest cerebral mass lesions remains an ill-defined step in management. Prebiopsy data of 26 human immunodeficiency virus-positive patients with cerebral mass lesions who underwent computed tomography-guided stereotactic brain biopsy (SBB) were reviewed by a specialist in infectious diseases and by a neuroradiologist to establish a clinical diagnosis and a treatment plan for each patient. The postbiopsy diagnosis was compared with the prebiopsy diagnosis. Long-term patient outcome after SBB was recorded by means of a clinical performance scale to estimate its impact on life expectancy and clinical performance. The SBB was diagnostic in 25 patients (96%). Potentially treatable disease was diagnosed in 21 patients (81%), and specific therapy was initiated in 17 patients (65%); 10 patients (39%) were able to complete therapy. The SBB corroborated the clinical diagnosis in 13 (52%) of 25 patients. The group with identical clinical and biopsy-proved diagnoses showed significantly better response to therapy (P = .02), clinical performance (P = .04), and survival after biopsy (P = .01), as compared with the group with different clinical and biopsy-proved diagnosis, although no significant difference was found for the degree of immunosuppression. Only completion of the treatment plan increased life expectancy significantly (P = .008). These data show that in human immunodeficiency virus-positive patients with brain mass lesions, SBB has a high diagnostic yield. A subgroup of patients will benefit from specific therapy guided by the SBB result. The procedure should, however, be strictly limited to patients able to tolerate specific therapy.

The value of imaging in the diagnosis and treatment of bone tumors

The authors report their experience in the diagnosis of bone tumors at the Rizzoli Institute of Bologna. The main imaging techniques used to this purpose are conventional radiography, CT, MRI, and isotope bone scan. Angiography is rarely used. Conventional radiography is the examination of choice and is sufficient in several benign lesions not requiring treatment. Supplementary imaging studies are usually needed when radiographic findings are questionable and/or the lesion requires treatment. When a biopsy is required, it should be carried out after a complete imaging work-up, which sometimes allows a correct prebiopsy diagnosis, indicates the biopsy modality, approach and site, and is also mandatory to stage the tumor, plan the surgical approach and technique, and show in the finest details the occult tumor spread. CT best shows mineralized tissues and pulmonary metastases. It is also frequently used as a guide for needle biopsies. MRI beautifully shows the different tissues and compartments and it is particularly sensitive in depicting fat. Moreover, it can be repeated many times, even in pregnant women, because it needs no ionizing radiations and iodinated contrast; it is also free of artifacts in the patients with orthopedic devices which are usually nonferromagnetic. However, the execution of an adequate MRI requires experience and knowledge of bone pathologic conditions. Bone scan helps in detecting any ‘active’ area in the bone. It can be thus useful to depict lesion quiescence or activity and to stage any tumor which can metastasize to the skeleton. Bone scan is also helpful to show bone lesions when they are not visible on plain radiographs and indicates the tumor response to preoperative chemotherapy. Angiography is helpful when a preoperative selective embolization is needed, or when complex vertebral surgery or vascular surgery are planned. The bad outcome of bone tumors often depends on incomplete, inadequate or misinterpretated imaging findings.

The diagnosis of inflammatory muscular and vascular diseases using MRT with STIR sequences

The role of MRT in the prebiopsy diagnosis of muscular and vascular inflammatory conditions was evaluated prospectively and an optimal method of examination was investigated. 92 patients with a suspected diagnosis of myositis (60 cases) or vasculitis (32 cases) were examined, in each case two extremities were studied using transverse T1 and T2 weighted SE sequences and double echo STIR sequences on a 0.5 Tesla (56 patients) or 1.5 Tesla magnet (36 patients; T5/S15 Gyroscan, Philips). The site of the biopsy depended on the MRT findings. In 41 patients the suspected diagnosis was confirmed histologically, in two patients an infective myositis was diagnosed on clinical grounds despite negative histology. MRT demonstrated muscle oedema in 86% of patients. There were negative findings after immuno-suppressive therapy (two patients), in focal myositis (3 out of 4 patients) and in one of 7 patients with untreated vasculitis. Amongst 49 patients in whom the suspected diagnosis could not be confirmed there was muscle oedema in 11 cases (9 neuropathies out of 22, two myopathies out of 10). Oedema indicated inflammatory muscular or vascular disease with a sensitivity of 97% (except in treated patients and for focal myositis). The number of false negative biopsies can be greatly reduced by the use of MRT.

Rashes in immunocompromised cancer patients. The diagnostic yield of skin biopsy and its effects on therapy

Rashes in immunocompromised cancer patients can be important, and skin biopsies are often recommended for their evaluation. The objectives of this study were to determine how often skin biopsy in these patients is performed and how often it alters diagnosis and therapy. Records of all immunocompromised adults with cancer and acute rash seen by dermatology consultants on a hematology-oncology ward of a university hospital for 39 months were reviewed to determine patients' course and outcome (190 episodes of rash in 123 patients). Skin biopsies were performed on 108 rashes (57%); 82 rashes (43%) were evaluated without biopsy. Among the 108 patients who underwent a biopsy of their rashes, the biopsy findings supported the prebiopsy diagnosis in 51% (95% confidence interval [CI], 42% to 60%), altered it in 44% (95% CI, 35% to 53%), and did not contribute to the final diagnosis in 6% (95% CI, 2% to 12%). Fifteen of 108 biopsies (14%) (95% CI, 7% to 21%) changed systemic therapy. Most treatment changes were for cutaneous reactions to drugs; biopsy never resulted in the diagnosis of untreated systemic infection. Biopsy findings that altered diagnoses were not more likely to change therapy. Among the 82 rashes in which biopsies were not performed, review of the chart revealed no adverse sequelae (0%) (95% CI, 0% to 5%), which would have made a biopsy advisable. Skin biopsy findings often changed dermatologic diagnoses in immunocompromised cancer patients, but treatment changes based on biopsy results were much less common, and altered diagnoses in patients who underwent biopsy often did not change therapy. Untreated systemic infection was never diagnosed by means of a skin biopsy. Skin biopsies of these rashes may not be mandatory for either diagnostic or therapeutic reasons.

Rashes in Immunocompromised Cancer Patients

<h3>† Background and Design.—</h3> Rashes in immunocompromised cancer patients can be important, and skin biopsies are often recommended for their evaluation. The objectives of this study were to determine how often skin biopsy in these patients is performed and how often it alters diagnosis and therapy. Records of all immunocompromised adults with cancer and acute rash seen by dermatology consultants on a hematology-oncology ward of a university hospital for 39 months were reviewed to determine patients' course and outcome (190 episodes of rash in 123 patients). <h3>Results.—</h3> Skin biopsies were performed on 108 rashes (57%); 82 rashes (43%) were evaluated without biopsy. Among the 108 patients who underwent a biopsy of their rashes, the biopsy findings supported the prebiopsy diagnosis in 51% (95% confidence interval [CI], 42% to 60%), altered it in 44% (95% CI, 35% to 53%), and did not contribute to the final diagnosis in 6% (95% CI, 2% to 12%). Fifteen of 108 biopsies (14%) (95% CI, 7% to 21%) changed systemic therapy. Most treatment changes were for cutaneous reactions to drugs; biopsy never resulted in the diagnosis of untreated systemic infection. Biopsy findings that altered diagnoses were not more likely to change therapy. Among the 82 rashes in which biopsies were not performed, review of the chart revealed no adverse sequelae (0%) (95% CI, 0% to 5%), which would have made a biopsy advisable. <h3>Conclusions.—</h3> Skin biopsy findings often changed dermatologic diagnoses in immunocompromised cancer patients, but treatment changes based on biopsy results were much less common, and altered diagnoses in patients who underwent biopsy often did not change therapy. Untreated systemic infection was never diagnosed by means of a skin biopsy. Skin biopsies of these rashes may not be mandatory for either diagnostic or therapeutic reasons. (<i>Arch Dermatol.</i>1993;129:175-181)

Case report 684

A 4-year-old boy presented with a mass in the left groin. Radiographic examination demonstrated that the soft-tissue mass contained calcification and was encroaching on the left femur. The pre-biopsy clinico-radiographic diagnosis was that of some sort of sarcoma. The pathological findings identified the mass as infantile myofibromatosis. This case serves to stress the need for greater caution in the clinico-radiographic diagnosis of soft-tissue tumors.

Is liver biopsy useful in the evaluation of patients with chronically elevated liver enzymes?

To determine the diagnostic usefulness of percutaneous liver biopsy in evaluating patients with chronically elevated liver-associated enzymes. Comparison of diagnosis made before biopsy by one physician on the basis of a noninvasive work-up (history, physical examination, laboratory values, and imaging studies) and final diagnosis made after biopsy by a second physician formulated after review of all available noninvasive information and study of the biopsy specimen. Referral-based gastroenterology clinic at a U.S. Navy medical center. Sequential sample of 107 patients with elevated liver-associated enzymes for a minimum of 3 months. Ninety patients were eligible for study. The final diagnosis made by the second physician blinded to the first clinician's diagnosis served as the criterion standard. Four diagnostic groups were selected for analysis: Alcoholic liver disease, fatty liver, chronic necroinflammatory diseases, and miscellaneous. The positive predictive value of the prebiopsy diagnosis ranged from 88% (CI, 75% to 100%) for alcoholic liver disease to 56% (CI, 37% to 75%) for fatty liver. Higher elevations of transaminase values (greater than three times the upper limit of normal) correlated positively with increased prebiopsy diagnostic accuracy. Fatty liver was present in 19% of the cohort. Liver diseases requiring specific therapy other than alcohol abstinence were overlooked and diagnosed only after review of the biopsy in five cases. Conversely, four cases of liver disease, thought to require specific therapy on the basis of noninvasive work-up, were ruled out by biopsy. The cause of chronic liver disease is best elucidated when the noninvasive work-up is complemented by review of a biopsy specimen.

Diagnostic value of liver biopsy in alcoholic liver disease.

Because it remains debatable whether all patients with a clinical diagnosis of alcoholic liver disease should have a liver biopsy to help confirm the diagnosis, we evaluated the diagnostic value of liver biopsy in alcoholic liver disease. Studied were 108 consecutive patients who had a percutaneous liver biopsy for the first time. In all cases the patient's clinical diagnosis recorded before biopsy was compared with the histological diagnosis of an experienced histopathologist. Prebiopsy clinical data (reported alcohol intake, signs of chronic liver disease) and laboratory data (liver function tests, mean corpuscular volume, ferritin, hepatitis B serology) were reviewed. We found that a prebiopsy clinical diagnosis of alcoholic liver disease (n = 35) was confirmed by biopsy in all but one case. The prebiopsy diagnosis of alcoholic liver disease was significantly associated with a histological diagnosis of alcoholic liver disease (specificity 98%, sensitivity 79%). Individually, alcohol intake, signs of chronic liver disease, the alanine aminotransferase (ALT), the aspartate aminotransferase to ALT ratio, and the mean corpuscular volume were significantly associated with a histological diagnosis of alcoholic liver disease. When clinical and laboratory parameters were considered jointly using stepwise logistic regression, only reported alcohol intake and mean corpuscular volume were significant. Liver biopsy may not always be necessary for the identification of that broad group of patients with alcoholic liver disease.