Rosen's Breast Pathology, 4e

xiv

Introduction

In this setting, the individual pathologist or the pathol- ogy group in a department may seek an extramural opinion from an expert consultant. This typically occurs when there is a difference of interpretation among pathologists in an institution or the diagnosis is uncertain after internal re- view. Consultation may also be obtained when the probable diagnosis is one with which there is little or no experience. Another category of consultation results from uncertainty about the diagnosis engendered by a limited or unrepre- sentative sample, poor histologic preparation, or a patho- logic change that appears to be on the borderline between two or more diagnoses. As noted by Leslie et al., 6 “Second opinions in anatomic pathology are an integral part of qual- ity ­practice … frequent consultation between pathologists should be fostered in all practice settings and documented as part of the quality assurance process.” Several studies have demonstrated the important con- tribution to patient care of second opinion pathology consultations, generally in the context of referrals seen at academic centers. A very encouraging aspect of this practice is the high degree to which the primary diagnosis has been confirmed by the consultant. Epstein et al. 7 reported con- cordant diagnoses (carcinoma vs. not carcinoma) in 98.7% of 535 prostatic needle biopsies diagnosed as carcinoma. Nonetheless, the six diagnoses not sustained as carcinoma were critically important for the 1.3% of patients. A cost analysis of these results suggested that the saving in medical expenses for the six patients who did not undergo surgery substantially exceeded the cost of reviewing all 535 biopsies. In a subsequent study of 855 core biopsy samples from the prostate gland seen in consultation, Epstein and colleagues 8 reported a 1.2% rate of unconfirmed carcinomas, a result that was virtually identical to their 1996 study. Among 844 cases confirmed to be carcinoma, unreported perineural invasion was detected in 4.3% and unreported periprostatic invasion was found in 0.5%. A higher rate of discrepancies was found by Abt et al., 9 who compared the original- and second-opinion diagnoses in a broad range of pathology among 777 patients referred to an academic center. Forty-five diagnostic disagreements (6%) were regarded as clinically significant, and overall the level of agreement was 92.1%. Manion et al. 10 reported a study of 5,629 outside pathology cases examined between 2003 and 2006 as part of the University of Iowa Hospitals and Clinics policy that requires “… second opinion pathol- ogy review of pertinent outside material, irrespective of the nature of the specimen or complexity of the case.” Major diagnostic disagreements with the potential to change treat- ment or prognosis were recorded in 132 (2.3%) cases, result- ing in changes in clinical management in 68 (1.2%). The most frequent sites of major disagreements were the female reproductive tract, the gastrointestinal tract, and the skin. The largest study to date of discordant pathology was re- ported by Swapp et al., 11 who reviewed the records of 71,811 cases seen in consultation at the Mayo Clinic between 2005 and 2010. Major disagreements were recorded in 457 (0.6%)

cases. The most frequent sites of discrepant diagnoses were the gastrointestinal tract (17.5%), lymph nodes (16%), and bone/soft tissue (10%). Major disagreements were encoun- tered in 8% of breast cases. Perkins et al. 12 estimated that diagnoses were inaccurate in 2% to 4% of breast carcinoma cases, including mistaking benign for malignant disease or vice versa , over- or underdi- agnoses of invasive carcinoma, or misinterpretation of prog- nostic markers such as human epidermal growth factor/ neu receptor (HER2/ neu ). In a study restricted to breast carci- nomas, Staradub et al. 13 reviewed second-opinion diagnoses on 346 tumors from 340 patients who had been referred to the Sage Comprehensive Breast Program at Northwestern University. Major changes in diagnosis that affected therapy occurred in 30 (7.8%) cases. Among seven discrepant cases with an initial diagnosis of ductal carcinoma in situ (DCIS), the second-opinion diagnosis was benign in one and inva- sive carcinoma in six. Seven other diagnoses were revised from invasive carcinoma to DCIS. Sixteen changes of mar- gin status were documented and in three cases revised mar- gin status coincided with another major change. Within the United States, several factors have contributed to the growing number of pathology consultations. Much of the increase is generated by patients who seek multiple clinical opinions from different physicians and institutions. Some patients are primarily concerned with confirmation of their diagnosis, and one or more consultations may be obtained directly from pathologists for this reason alone. The involvement of patients is epitomized by a ­January 17, 2012, Wall Street Journal article titled “What If the Doctor Is Wrong?,” 14 which recounts the story of a 47-year-old woman with abdominal tumors. Based on initial tissue samples, it was thought that she had a rare form of ovarian carcinoma. When the patient consulted a major cancer cen- ter, further studies led to a diagnosis of lymphoma. In addition to consultations initiated by pathologists seeking opinions from their colleagues, surgeons, medical oncologists, and other physicians generate some consulta- tions. The review of “outside” pathology slides should be mandatory whenever a patient is referred to a physician for consultation or treatment at an institution other than the one where the primary diagnosis was rendered, 15 a policy referred to by one author as “the pathologist’s preventive medicine.” 16 The office of the physician seeing a patient in consultation should inform the patient of the necessity of obtaining pathology material for review in a timely manner before the office visit. A policy and procedures should be established for guiding the patient through this process, in- cluding instructions as to what material is needed and where it should be sent. The importance of a second review should be explained, and the patient should be informed that there will be a charge for this service. Slides sent for consultation, regardless of the reason, must be accompanied by documents that confirm the identity of the specimen with the patient and a copy of the pathology/cytology report for each specimen represented,