The first edition (1981) of this comprehensive work weighed 25 lb and had 3300 pages. This entirely new third edition, published 14 years later, has grown to 45 lb and 4850 pages. This growth is not due to inflation but is the direct result of the information explosion. The multiplication of techniques for imaging and studying the bone and soft tissues has made choosing the best method for examination of the patient more difficult and, in an environment in which cost-effectiveness has become a byword, more important. An underlying principle of this work is to guide the physician in the choice of the technology to be employed to get essential information quickly and efficiently. Dr Resnick has called on a group of 40 contributors for special information, but he himself has played a major role in the writing and has been more than an editor, thereby ensuring a consistent and

Diagnosis of Bone and Joint Disorders

Purpose Multiple-gene sequencing is entering practice, but its clinical value is unknown. We evaluated the performance of a customized germline-DNA sequencing panel for cancer-risk assessment in a representative clinical sample. Methods Patients referred for clinical BRCA1/2 testing from 2002 to 2012 were invited to donate a research blood sample. Samples were frozen at −80° C, and DNA was extracted from them after 1 to 10 years. The entire coding region, exon-intron boundaries, and all known pathogenic variants in other regions were sequenced for 42 genes that had cancer risk associations. Potentially actionable results were disclosed to participants. Results In total, 198 women participated in the study: 174 had breast cancer and 57 carried germline BRCA1/2 mutations. BRCA1/2 analysis was fully concordant with prior testing. Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations. Fourteen participants carried 15 ...

/pdf/clinical-evaluation-of-a-multiple-gene-sequencing-panel-for-3pxakwp0oj.pdf

Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment

Globally, breast cancer is both the most commonly occurring cancer and the commonest cause of cancer death among women. Available data suggest that incidence and mortality in high-resource countries has been declining whereas incidence and mortality in low-resource countries has been increasing. This pattern is likely to be due to changing risk factor profiles and differences in access to breast cancer early detection and treatment. Risk factors for breast cancer include increasing age, race, menarche history, breast characteristics, reproductive patterns, hormone use, alcohol use, tobacco use, diet, physical activity, and body habitus. Mutations in the BRCA 1 and BRCA 2 tumor suppressor genes are significantly associated with the development of breast and ovarian cancer by the age of 70. Survival depends on both stage and molecular subtype. As there are few signs and symptoms early on, early detection is an important strategy to improve outcomes. Major professional organizations in the United States and elsewhere recommend screening with mammography with appropriate follow up for an abnormal screening test, although they differ somewhat by recommended ages and frequency of screening. Studies suggest a 15%-40% mortality reduction secondary to screening, however, there are also concerns about harms, such as overdiagnosis (5%-54%) and overtreatment leading to long term complications, and false negatives (6%-46%). Identification of women at risk for BRCA1 and BRCA 2 mutations is also recommended with referral for genetic testing. Preventive interventions, such as lifestyle, medical, and surgical options are available for women testing positive for BRCA mutations.

Breast Cancer Epidemiology, Prevention, and Screening

Genetics of breast cancer: a topic in evolution

The diagnosis and management of breast cancer are undergoing a paradigm shift from a one-size-fits-all approach to an era of personalized medicine. Sophisticated diagnostics, including molecular imaging and genomic expression profiles, enable improved tumor characterization. These diagnostics, combined with newer surgical techniques and radiation therapies, result in a collaborative multidisciplinary approach to minimizing recurrence and reducing treatment-associated morbidity. This article reviews the diagnosis and treatment of breast cancer, including screening, staging, and multidisciplinary management.

https://jnm.snmjournals.org/content/jnumed/57/Supplement_1/9S.full.pdf

Clinical Diagnosis and Management of Breast Cancer

Mammography is the recommended method for breast cancer screening of women in the general population. However, mammography alone does not perform as well as mammography plus supplemental screening in high-risk women. Therefore, supplemental screening with MRI or ultrasound is recommended in selected high-risk populations. Screening breast MRI is recommended in women at high risk for breast cancer on the basis of family history or genetic predisposition. Ultrasound is an option for those high-risk women who cannot undergo MRI. Recent literature also supports the use of breast MRI in some women of intermediate risk, and ultrasound may be an option for intermediate-risk women with dense breasts. There is insufficient evidence to support the use of other imaging modalities, such as thermography, breast-specific gamma imaging, positron emission mammography, and optical imaging, for breast cancer screening. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every 2 years by a multidisciplinary expert panel. The guideline development and review includes an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment.

ACR Appropriateness Criteria Breast Cancer Screening

Mammography is the recommended method for breast cancer screening of women in the general population. However, mammography alone does not perform as well as mammography plus supplemental screening in high-risk women. Therefore, supplemental screening with MRI or ultrasound is recommended in selected high-risk populations. Screening breast MRI is recommended in women at high risk for breast cancer on the basis of family history or genetic predisposition. Ultrasound is an option for those high-risk women who cannot undergo MRI. Recent literature also supports the use of breast MRI in some women of intermediate risk, and ultrasound may be an option for intermediate-risk women with dense breasts. There is insufficient evidence to support the use of other imaging modalities, such as thermography, breast-specific gamma imaging, positron emission mammography, and optical imaging, for breast cancer screening.

The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every 2 years by a multidisciplinary expert panel. The guideline development and review includes an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment.

Original articleACR Appropriateness Criteria Breast Cancer Screening

The “cartilage black line sign” is a recently described T2 dark cartilage lesion that we have identified appearing as a cleft in the trochlear trough. The purpose of our study was to define the MR imaging characteristics of a trochlear cleft, determine its incidence, and correlate the MR findings with arthroscopy. A total of 1,300 consecutive MR examinations of the knee were retrospectively reviewed by consensus of two fellowship-trained musculoskeletal radiologists. The MR imaging characteristics and location of a trochlear cleft were determined. Imaging results were compared to arthroscopy when available. Patient age and gender were compared to 25 randomly selected control patients without trochlear clefts. A total of 25 (1.9%) individuals (11 females and 14 males; age range 19–45 years; mean age 28 years) were diagnosed with a trochlear cleft. The control group consisted of 11 females and 14 males; age range 19–83 years; mean age 46 years. Mean cleft length was 7 mm (range 6–12 mm); cleft location was consistently in the lower trochlear trough. No full-thickness cartilage defects were identified in the eight individuals in whom arthroscopic correlation was available. A grade 2 cartilage lesion was identified in a single individual; another progressed from grade 0 to a full-thickness trochlear lesion over an 8-month interval. Eight individuals were athletes. No significant difference in gender was noted between the two groups, however, the study group was significantly younger p < 0.0001. A trochlear cleft is a rare finding in young active individuals. It most likely indicates an incomplete cartilage fissure which may rarely progress to a full-thickness defect.

The trochlear cleft: the “black line” of the trochlear trough.

Bone contusions are an important ancillary finding of many knee injuries. Not only are they a source of pain, they may suggest a mechanism of injury or a specific derangement of the knee joint. We have encountered a small number of patients being evaluated for anterior cruciate ligament (ACL) tears with unexplained patellar and tibial edema at magnetic resonance (MR) imaging. We present three individuals with contusions of the inferior patella with a corresponding contusion of the anteromedial tibial plateau. Internal derangements in these patients were similar to other individuals with acute ACL tears, however osseous contusions were more widespread. In conclusion, patellotibial contusions are rare and may indicate an injury with forces greater than usually encountered in most ACL tears. A careful search for uncommon associated injuries is prudent in these high-energy knee injuries.

Joshua A. Nepute

Papers

ACR Appropriateness Criteria Breast Cancer Screening

Original articleACR Appropriateness Criteria Breast Cancer Screening

The trochlear cleft: the “black line” of the trochlear trough.

Patellotibial contusions in anterior cruciate ligament tears