Clinical impact of follow-up imaging on mortality in Korean breast cancer patients: A national cohort study.

BACKGROUND: As the incidence of breast cancer has increased and the survival rate has improved, supporting the optimal follow-up strategy has become an important issue. This study aimed to evaluate follow-up imaging usage after breast cancer surgery and the implications on mortality in Korea. METHODS: This study included 96,575 breast cancer patients diagnosed during 2002-2010 and registered in the Korea Central Cancer Registry, Statistics Korea, and Korean National Health Insurance Service. We evaluated the frequency of breast imaging (mammography and breast MRI) and systemic imaging for evaluating the presence of distant metastasis (chest CT, bone scan, and PET-CT), and performed analyses to determine if they had an effect on mortality. RESULTS: The median follow-up period was 72.9 months (range: 12.0-133.3) and 7.5% of the patients died. Among all patients, 54.7%, 16.2%, 45.6%, and 8.5% received 3 or more mammograms, chest CTs, bone scans, and PET-CTs within 3 years after surgery, respectively. Among patients who developed recurrence after 3 or more years, a comparison of overall mortality and breast-cancer specific mortality according to the frequency of imaging by modality (<3 vs. ≥3) showed that only mammography had significantly reduced mortality (hazard ratio [HR]: 0.72, 95% CI: 0.61-0.84, p < 0.0001; HR: 0.72, 95% CI: 0.61-0.84; p < 0.0001). CONCLUSIONS: This study showed that only frequent mammography reduced mortality and frequent imaging follow-up with other modalities did not when compared to less frequent imaging. This finding provides supportive evidence that clinicians need to adhere to the current guidelines for surveillance after breast cancer surgery.

Desmoid fibromatosis: is the current picture changing?

Desmoid fibromatosis is a locally aggressive tumor with an unpredictable clinical course. Surgery was once the mainstay of treatment, but the treatment protocol has been constantly evolving and currently active surveillance is the front-line approach. There have been significant insights into the molecular biology with the addition of mutational analysis of CTNNB1 adding to prognostic information. We present a review of the literature with current practice guidelines, also including novel therapeutic targets and ongoing clinical trials, to unravel the next step in the management of sporadic desmoid fibromatosis.

Lay abstract Desmoid fibromatosis is an aggressive local tumor with continuously changing treatment paradigms. It requires MRI with biopsy for diagnosis and follow-up. Usually the tumor responds to a 'wait and watch' approach in most patients with either stable disease or regression on follow-up; a surgical plan is made only after multidisciplinary discussion, as surgery does not provide additional benefit in most patients. After a period of wait and watch, if there is disease progression, patients can be kept on medical management such as chemotherapy. Currently we have novel drugs for medical management like tyrosine kinase inhibitors, which result in disease stabilization in a majority of patients. In order to reduce the morbidity of treatment, it is essential for the patient to be on continuous follow-up and for clinicians to be updated with the continuously changing management of this disease.

Perceived barriers to the adoption of active surveillance in low-risk prostate cancer: a qualitative analysis of community and academic urologists.

BACKGROUND: Clinical practice guidelines recommend active surveillance as the preferred treatment option for low-risk prostate cancer, but only a minority of eligible men receive active surveillance, and practice variation is substantial. The aim of this study is to describe barriers to urologists' recommendation of active surveillance in low-risk prostate cancer and explore variation of barriers by setting. METHODS: We conducted semi-structured interviews among 22 practicing urologists, evenly distributed between academic and community practice. We coded barriers to active surveillance according to a conceptual model of determinants of treatment quality to identify potential opportunities for intervention. RESULTS: Community and academic urologists were generally in agreement on factors influencing active surveillance. Urologists perceived patient-level factors to have the greatest influence on recommendations, particularly tumor pathology, patient age, and judgements about the patient's ability to adhere to follow-up protocols. They also noted cross-cutting clinical barriers, including concerns about the adequacy of biopsy samples, inconsistent protocols to guide active surveillance, and side effects of biopsy procedures. Urologists had differing opinions on the impact of environmental factors, such as financial disincentives and fear of litigation. CONCLUSIONS: Despite national and international recommendations, both academic and community urologists note a variety of barriers to implementing active surveillance in low risk prostate cancer. These barriers will need to be specifically addressed in efforts to help urologists offer active surveillance more consistently.

MANAGEMENT OF ENDOCRINE DISEASE: Papillary thyroid microcarcinoma: toward an active surveillance strategy.

In the last decades, the incidence of thyroid cancer (TC) has more than doubled, but the disease-specific mortality rate was stable. To date, 30-40% of all TC is represented by papillary microcarcinomas (mPTC), an indolent tumor, that probably remained undiagnosed before routine ultrasound use. In 1993, Miyauchi was the first who hypothesized a conservative approach for low-risk mPTC and introduced the concept of active surveillance (AS) in its clinical management. The progression rate of mPTC during AS was low and delaying surgery did not impact the efficacy of treatment or outcome. Since then, several authors from all over the world have reported their experience of AS in mPTCs. As suggested by current guidelines, AS can be considered as an alternative to immediate surgery to avoid overtreatment in low-risk mPTC and may be the strategy to avoid complications from unnecessary surgery. In the last years, AS inclusion criteria have been extended to both bigger tumors and to younger/healthier patients. The adoption of AS should take into consideration not only tumor characteristics but also patient psychological profiles and medical team expertise. Its safety and efficacy have been demonstrated in long-term outcome studies and in other types of tumors; however, skepticism in patients, families and physicians should be overcome by strong recommendations coming from scientific guidelines. This review analyses the several and different experiences of AS and the potential obstacles in implementing it as a routine approach in mPTC patients.

Rhabdomyomatous mesenchymal hamartoma presenting as telangiectasia in a 57-year-old man.

Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare congenital malformation of the dermis and subcutaneous tissue. Usually, RMH occurs in the midline of the face and neck region. We described a case of RMH presenting as telangiectasia in a 57-year-old man with a history of pityriasis lichenoides chronicus. Histopathological examination revealed a subepidermal haphazard proliferation of striated muscular tissue perpendicular to the epidermis. These bundles of striated muscular tissue were admixed with adnexal structures. The diagnosis was consistent with RMH. RMH is more common in the neonatal period or in young children, but we should consider it as part of a differential diagnosis in older adults as well.

Management of Pediatric Breast Masses: A Multi-institutional Retrospective Cohort Study.

BACKGROUND: The objective of our study was to describe the workup, management, and outcomes of pediatric patients with breast masses undergoing operative intervention. MATERIALS AND METHODS: A retrospective cohort study was conducted of girls 10-21 y of age who underwent surgery for a breast mass across 11 children's hospitals from 2011 to 2016. Demographic and clinical characteristics were summarized. RESULTS: Four hundred and fifty-three female patients with a median age of 16 y (IQR: 3) underwent surgery for a breast mass during the study period. The most common preoperative imaging was breast ultrasound (95%); 28% reported the Breast Imaging Reporting and Data System (BI-RADS) classification. Preoperative core biopsy was performed in 12%. All patients underwent lumpectomy, most commonly due to mass size (45%) or growth (29%). The median maximum dimension of a mass on preoperative ultrasound was 2.8 cm (IQR: 1.9). Most operations were performed by pediatric surgeons (65%) and breast surgeons (25%). The most frequent pathology was fibroadenoma (75%); 3% were phyllodes. BI-RADS scoring ≥4 on breast ultrasound had a sensitivity of 0% and a negative predictive value of 93% for identifying phyllodes tumors. CONCLUSIONS: Most pediatric breast masses are self-identified and benign. BI-RADS classification based on ultrasound was not consistently assigned and had little clinical utility for identifying phyllodes.

Postoperative Surveillance in Older Adults With T1N0M0 Low-risk Papillary Thyroid Cancer.

BACKGROUND: The frequency and cost of postoperative surveillance for older adults (>65 y) with T1N0M0 low-risk papillary thyroid cancer (PTC) have not been well studied. METHODS: Using the SEER-Medicare (2006-2013) database, frequency and cost of surveillance concordant with American Thyroid Association (ATA) guidelines (defined as an office visit, ≥1 thyroglobulin measurement, and ultrasound 6- to 24-month postoperatively) were analyzed for the overall cohort of single-surgery T1N0M0 low-risk PTC, stratified by lobectomy versus total thyroidectomy. RESULTS: Majority of 2097 patients in the study were white (86.7%) and female (77.5%). Median age and tumor size were 72 y (interquartile range 68-76) and 0.6 cm (interquartile range 0.3-1.1 cm), respectively; 72.9% of patients underwent total thyroidectomy. Approximately 77.5% of patients had a postoperative surveillance visit; however, only 15.9% of patients received ATA-concordant surveillance. Patients who underwent total thyroidectomy as compared with lobectomy were more likely to undergo surveillance testing, thyroglobulin (61.7% versus 24.8%) and ultrasound (37.5% versus 29.2%) (all P < 0.01), and receive ATA-concordant surveillance (18.5% versus 9.0%, P < 0.001). Total surveillance cost during the study period was $621,099. Diagnostic radioactive iodine, ablation, and advanced imaging (such as positron emission tomography scans) accounted for 55.5% of costs ($344,692), whereas ATA-concordant care accounted for 44.5% of costs. After multivariate adjustment, patients who underwent total thyroidectomy as compared with lobectomy were twice as likely to receive ATA-concordant surveillance (adjusted odds ratio 2.0, 95% confidence interval: 1.5-2.8, P < 0.001). CONCLUSIONS: Majority of older adults with T1N0M0 low-risk PTC do not receive ATA-concordant surveillance; discordant care was costly. Total thyroidectomy was the strongest predictor of receiving ATA-concordant care.

Systematic Review of Treatments for Colorectal Metastases in Elderly Patients to Guide Surveillance Cessation Following Hepatic Resection for Colorectal Liver Metastases.

BACKGROUND: Although included in surveillance programmes for colorectal cancer (CRC) metastases, elderly patients are susceptible to declines in health and quality of life that may render them unsuitable for further surveillance. Deciding when to cease surveillance is challenging. METHODS: There are no publications focused on surveillance of elderly patients for CRC metastases. A systematic review of studies reporting treatment outcomes for CRC metastases in elderly patients was performed to assess the risk-benefit balance of the key objectives of surveillance; detecting and treating CRC metastases. RESULTS: Sixty-eight eligible studies reported outcomes for surgery and chemotherapy in the elderly. Liver resections and use of chemotherapy, including biologics, are more conservative and have poorer outcomes in the elderly compared with younger patients. Selected studies demonstrated poorer quality-of-life (QoL) following surgery and chemotherapy. Studies of ablation in elderly patients are limited. DISCUSSION: The survival benefit of treating CRC metastases with surgery or chemotherapy decreases with advancing age and QoL may decline in the elderly. The relatively lower efficacy and detrimental QoL impact of multimodal therapy options for detected CRC metastases in the elderly questions the benefit of surveillance in some elderly patients. Care of elderly patients should thus be customized based on their preference, formal geriatric assessment, natural life-expectancy, and the perceived risk-benefit balance of treating recurrent CRC metastases. Clinicians may consider surveillance cessation in patients aged 75 years and above if geriatric assessment is unsatisfactory, patients decline surveillance, or patient fitness deteriorates catastrophically.

Use of multiparametric magnetic resonance imaging (mpMRI) in active surveillance for low-risk prostate cancer: a scoping review on the benefits and harm of mpMRI in different biopsy scenarios.

BACKGROUND: There is uncertainty on how multiparametric MRI (mpMRI) and MRI-targeted biopsy (MRI-TB) can be best used to manage low-risk prostate cancer patients on Active Surveillance (AS). We performed a scoping review to evaluate the benefits and harm associated with four different biopsy scenarios in which mpMRI can be implemented in AS. METHODS: Medline, Embase and Cochrane Library databases (1 January 2013-18 September 2020) were searched. Included studies were on men with low-risk prostate cancer enrolled in AS, who had mpMRI ± MRI-TB and standard prostate biopsy (systematic transrectal ultrasound or transperineal saturation biopsy), at confirmatory or follow-up biopsy. Primary outcomes were the number of Gleason score upgrades and biopsies avoided. RESULTS: Eight confirmatory biopsy studies and three follow-up biopsy studies were included. Compared to the benchmark of using standard biopsy (SB) for all men, the addition of MRI-TB increased the detection of Gleason score upgrades at both confirmatory (6/8 studies) and follow-up biopsy (3/3 studies), with increments of 1.7-11.8 upgrades per 100 men. 6/7 studies suggested that the use of a positive mpMRI to triage men for MRI-TB or SB alone would detect fewer Gleason score upgrades than benchmark at confirmatory biopsy, but the combination of MRI-TB and SB would detect more upgrades than the benchmark. For follow-up biopsy, the evidence on mpMRI triage biopsy scenarios was inconclusive due to the small number of included studies. CONCLUSIONS: The addition of MRI-TB to benchmark (SB for all men) maximises the detection of Gleason score upgrades at confirmatory and follow-up biopsy. When the use of mpMRI to triage men for a biopsy is desired, the combination of MRI-TB and SB should be considered for men with positive mpMRI at confirmatory biopsy. The evidence on mpMRI triage scenarios was inconclusive in the follow-up biopsy setting.

Surveillance Intensity in Intermediate Risk, Nonmuscle Invasive Bladder Cancer: Revisiting the Optimal Timing and Frequency of Cystoscopy.

PURPOSE: We sought to determine the optimal cystoscopic interval for intermediate risk, nonmuscle invasive bladder cancer. MATERIALS AND METHODS: A retrospective analysis of patients with intermediate risk, nonmuscle invasive bladder cancer (2010-2017) was performed and 3 hypothetical models of surveillance intensity were applied: model 1: high (3 months), model 2: moderate (6 months) and model 3: low intensity (12 months) over a 2-year period. We compared timing of actual detection of recurrence and progression to proposed cystoscopy timing between each model. We calculated number of avoidable cystoscopies and associated costs. RESULTS: Of 107 patients with median followup of 37 months, 66/107 (77.6%) developed recurrence and 12/107(14.1%) had progression. Relative to model 1, there were 33 (50%) delayed detection of recurrences in model 2 and 41 (62%) in model 3. There was a 1.7-month mean delay in detection of recurrence for model 1 vs 3.2, and a 7.6-month delay for models 2 and 3 (p <0.001 model 1 vs 2; p <0.001 model 2 vs 3). Relative to model 1, there were 8 (67%) and 9 (75%) delayed detection of progression events in model 2 and 3. There were no progression-related bladder cancer deaths or radical cystectomies due to delayed detection. Mean number of avoidable cystoscopies was higher in model 1 (2) vs model 2 (1) and 3 (0). Model 1 had the highest aggregate cost of surveillance ($46,262.52). CONCLUSIONS: High intensity (3-month) surveillance intervals provide faster detection of recurrences but with increased cost and more avoidable cystoscopies without clear oncologic benefit. Moderate intensity (6-month) intervals in intermediate risk, nonmuscle invasive bladder cancer allows timely detection without oncologic compromise and is less costly with fewer cystoscopies.

Chronic cough in childhood: A systematic review for practical guidance by the Italian Society of Pediatric Allergy and Immunology.

The current systematic review presented and discussed the most recent studies on pediatric chronic cough. In addition, the Italian Society of Pediatric Allergy and Immunology elaborated a comprehensive algorithm to guide the primary care approach to a pediatric patient with chronic cough.Several algorithms on chronic cough management have been adopted and validated in clinical practice; however, unlike the latter, we developed an algorithm focused on pediatric age, from birth until adulthood. Based on our findings, children and adolescents with chronic cough without cough pointers can be safely managed, initially using the watchful waiting approach and, successively, starting empirical treatment based on cough characteristics. Unlike other algorithms that suggest laboratory and instrumental investigations as a first step, this review highlighted the importance of a "wait and see" approach, consisting of parental reassurance and close clinical observation, also due to inter-professional collaboration and communication between general practitioners and specialists that guarantee better patient management, appropriate prescription behavior, and improved patient outcome. Moreover, the neonatal screening program provided by the Italian National Health System, which intercepts several diseases precociously, allowing to treat them in a very early stage, helps and supports a "wait and see" approach.Conversely, in the presence of cough pointers or persistence of cough, the patient should be tested and treated by the specialist. Further investigations and treatments will be based on cough etiology, aiming to intercept the underlying disease, prevent potentially irreversible tissue damage, and improve the general health of patients affected by chronic cough, as well as the quality of life of patients and their family.

Acute cough in children and adolescents: A systematic review and a practical algorithm by the Italian Society of Pediatric Allergy and Immunology.

The current systematic review presented and discussed the most recent studies on acute cough in pediatric age. After that, the Italian Society of Pediatric Allergy and Immunology elaborated a comprehensive algorithm to guide the primary care approach to pediatric patients, such as infants, children, and adolescents, with acute cough. An acute cough is usually consequent to upper respiratory tract infections and is self-resolving within a few weeks. However, an acute cough may be bothersome, and therefore remedies are requested, mainly by the parents. An acute cough may significantly affect the quality of life of patients and their family.Several algorithms for the management of acute cough have been adopted and validated in clinical practice; however, unlike the latter, we developed an algorithm focused on pediatric age, and, also, in accordance to the Italian National Health System, which regularly follows the child from birth to all lifelong. Based on our findings, infants from 6 months, children, and adolescents with acute cough without cough pointers can be safely managed using well-known medications, preferably non-sedative agents, such as levodropropizine and/or natural compounds, including honey, glycerol, and herb-derived components.

Implementing Continuous Quality Improvement in an Integrated Community Urology Practice: Lessons Learned.

OBJECTIVE: To determine the effectiveness of 2 different continuous quality improvement interventions in an integrated community urology practice. We specifically assessed the impact of audited physician feedback on improving physicians' adoption of active surveillance for low-risk prostate cancer (CaP) and adherence to a prostate biopsy time-out intervention. MATERIALS AND METHODS: The electronic medical records of Genesis Healthcare Partners were analyzed between August 24, 2011 and September 30, 2020 to evaluate the performance of 2 quality interventions: audited physician feedback to improve active surveillance adoption in low-risk CaP patients, and audited physician feedback to promote adherence to an electronic medical records embedded prostate biopsy time-out template. Physician and Genesis Healthcare Partners group adherence to each quality initiative was compared before and after each intervention type using ANOVA testing. RESULTS: For active surveillance, we consistently saw an increase in active surveillance adoption for low risk CaP patients in association with continuous audited feedback (P < .001). Adherence to the prostate biopsy time-out template improved when audited feedback was provided (P < .001). CONCLUSION: The implementation of clinical guidelines into routine clinical practice remains challenging and poses an obstacle to the improvement of United States healthcare quality. Continuous quality improvement should be a dynamic process, and in our experience, audited feedback coupled with education is most effective.

Available active surveillance follow-up protocols for small renal mass: a systematic review.

PURPOSE: To evaluate follow-up strategies for active surveillance of renal masses and to assess contemporary data. METHODS: We performed a comprehensive search of electronic databases (Embase, Medline, and Cochrane). A systematic review of the follow-up protocols was carried out. A total of 20 studies were included. RESULT: Our analysis highlights that most of the series used different protocols of follow-up without consistent differences in the outcomes. Most common protocol consisted in imaging and clinical evaluation at 3, 6, and 12 months and yearly thereafter. Median length of follow-up was 42 months (range 1-137). Mean age was 74 years (range 67-83). Of 2243 patients 223 (10%) died during the follow-up and 19 patients died of kidney cancer (0.8%). The growth rate was the most used parameter to evaluate disease progression eventually triggering delayed intervention. Maximal axial diameter was the most common method to evaluate growth rate. CT scan is the most used, probably because it is usually more precise than kidney ultrasound and more accessible than MRI. Performing chest X-ray at every check does not seem to alter the clinical outcome during AS. CONCLUSION: The minimal cancer-specific mortality does not seem to correlate with the follow-up scheme. Outside of growth rate and initial size, imaging features to predict outcome of RCC during AS are limited. Active surveillance of SRM is a well-established treatment option. However, standardized follow-up protocols are lacking. Prospective, randomized, trials to evaluate the best follow-up strategies are pending.

Surveillance of Sentinel Node-Positive Melanoma Patients with Reasons for Exclusion from MSLT-II: Multi-Institutional Propensity Score Matched Analysis.

BACKGROUND: In sentinel lymph node (SLN)-positive melanoma, two randomized trials demonstrated equivalent melanoma-specific survival with nodal surveillance vs completion lymph node dissection (CLND). Patients with microsatellites, extranodal extension (ENE) in the SLN, or >3 positive SLNs constitute a high-risk group largely excluded from the randomized trials, for whom appropriate management remains unknown. STUDY DESIGN: SLN-positive patients with any of the three high-risk features were identified from an international cohort. CLND patients were matched 1:1 with surveillance patients using propensity scores. Risk of any-site recurrence, SLN-basin-only recurrence, and melanoma-specific mortality were compared. RESULTS: Among 1,154 SLN-positive patients, 166 had ENE, microsatellites, and/or >3 positive SLN. At 18.5 months median follow-up, 49% had recurrence (vs 26% in patients without high-risk features, p < 0.01). Among high-risk patients, 52 (31%) underwent CLND and 114 (69%) received surveillance. Fifty-one CLND patients were matched to 51 surveillance patients. The matched cohort was balanced on tumor, nodal, and adjuvant treatment factors. There were no significant differences in any-site recurrence (CLND 49%, surveillance 45%, p = 0.99), SLN-basin-only recurrence (CLND 6%, surveillance 14%, p = 0.20), or melanoma-specific mortality (CLND 14%, surveillance 12%, p = 0.86). CONCLUSIONS: SLN-positive patients with microsatellites, ENE, or >3 positive SLN constitute a high-risk group with a 2-fold greater recurrence risk. For those managed with nodal surveillance, SLN-basin recurrences were more frequent, but all-site recurrence and melanoma-specific mortality were comparable to patients treated with CLND. Most recurrences were outside the SLN-basin, supporting use of nodal surveillance for SLN-positive patients with microsatellites, ENE, and/or >3 positive SLN.

Adoption of Active Surveillance for Very Low-Risk Differentiated Thyroid Cancer in the United States: A National Survey.

CONTEXT: Active surveillance (AS) of thyroid cancer with serial ultrasounds is a newer management option in the United States. OBJECTIVE: This work aimed to understand factors associated with the adoption of AS. METHODS: We surveyed endocrinologists and surgeons in the American Medical Association Masterfile. To estimate adoption, respondents recommended treatment for 2 hypothetical cases appropriate for AS. Established models of guideline implementation guided questionnaire development. Outcome measures included adoption of AS (nonadopters vs adopters, who respectively did not recommend or recommended AS at least once; and partial vs full adopters, who respectively recommended AS for one or both cases). RESULTS: The 464 respondents (33.3% response) demographically represented specialties that treat thyroid cancer. Nonadopters (45.7%) were significantly (P < .001) less likely than adopters to practice in academic settings, see more than 25 thyroid cancer patients/year, be aware of AS, use applicable guidelines (P = .04), know how to determine whether a patient is appropriate for AS, have resources to perform AS, or be motivated to use AS. Nonadopters were also significantly more likely to be anxious or have reservations about AS, be concerned about poor outcomes, or believe AS places a psychological burden on patients. Among adopters, partial and full adopters were similar except partial adopters were less likely to discuss AS with patients (P = .03) and more likely to be anxious (P = .04), have reservations (P = .03), and have concerns about the psychological burden (P = .009) of AS. Few respondents (3.2%) believed patients were aware of AS. CONCLUSION: Widespread adoption of AS will require increased patient and physician awareness, interest, and evaluation of outcomes.

Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.

Juvenile polyposis syndrome (JPS) is a clinically diagnosed hamartomatous polyposis syndrome that increases the risk of gastrointestinal cancer. Approximately 40%-50% of JPS is caused by a germline disease-causing variant (DCV) in the SMAD4 or BMPR1A genes. The aim of this study was to characterize the phenotype of DCV-negative JPS and compare it with DCV-positive JPS. Herein, we analyzed a cohort of 145 individuals with JPS from nine institutions, including both pediatric and adult centers. Data analyzed included age at diagnosis, family history, cancer history, need for colectomy/gastrectomy, and polyp number and location. Compared with DCV-positive JPS, DCV-negative JPS was associated with younger age at diagnosis (P < 0.001), lower likelihood of having a family history of JPS (P < 0.001), and a lower risk of colectomy (P = 0.032). None of the DCV-negative individuals had gastric or duodenal polyps, and polyp burden decreased after the first decade compared with DCV-positive JPS. Subgroup analysis between SMAD4 and BMPR1A carriers showed that SMAD4 carriers were more likely to have a family history of JPS and required gastrectomy. Taken together, these data provide the largest phenotypic characterization of individuals with DCV-negative JPS to date, showing that this group has distinct differences compared with JPS due to a SMAD4 or BMPR1A variant. Better understanding of phenotype and cancer risk associated with JPS both with and without a DCV may ultimately allow for individualized management of polyposis and cancer risk.Prevention Relevance: Juvenile Polyposis Syndrome (JPS) is a gastrointestinal cancer predisposition syndrome requiring lifelong surveillance, however there is limited data comparing individuals with and without a germline disease-causing variant in SMAD4 or BMPR1A Herein we show that individuals with JPS without an underlying disease-causing variant have distinct phenotypic differences including lack of upper gastrointestinal polyps and lower rates of a family history of JPS, suggesting that a different approach to management may be appropriate in this population.

Fibromatosis of the breast: a 10-year multi-institutional experience and review of the literature.

BACKGROUND: Breast fibromatosis is a rare clinical entity, but poses significant diagnostic and therapeutic challenges. In light of recent changes in management practices, the aim was to review our institutional experience of breast fibromatosis and provide a review of current available literature on such management. METHODS: A search of pathological databases within two tertiary institutions for all patients diagnosed with fibromatosis of the breast over a 10-year period (2007-2016) was performed. Clinicopathological characteristics and modes of treatment were recorded for each patient. Concurrently a comprehensive literature search was performed and studies relating to breast fibromatosis and its management were identified and reviewed. RESULTS: Sixteen patients were identified. Median age at diagnosis was 42 (range 21-70) and all patients were diagnosed with core biopsy. The most useful imaging modality in diagnosis was ultrasonography and magnetic resonance imaging. 13/16 were treated surgically whilst 3/16 were treated using a watch-and-wait approach. 6/13 (46%) required re-excision of margins and 2/13 (15%) had recurrence after surgery. On review of the literature, there is no dedicated guideline in place for the management of breast fibromatosis. Currently a 'watch and wait' approach is favoured over surgical intervention due to high levels of recurrence and associated surgical morbidity. All cases should be discussed at a sarcoma multidisciplinary team meeting and tyrosine kinase inhibitors should be considered in advanced cases. CONCLUSIONS: Breast fibromatosis is rare but affects young patients. Active surveillance is now favoured over surgical resection due to high recurrence rates and extensive morbidity. Dedicated guidelines are required to ensure best outcomes.