Juvenile xanthogranuloma in neurofibromatosis type 1. Prevalence and possible correlation with lymphoproliferative diseases: experience of a single center and review of the literature.

Abstract: Neurofibromatosis type 1 (NF1), is a rare genetic disorder that may involve almost every organ system in the body such as cutaneous, ophthalmologic and central and peripheral nervous system. Cutaneous findings are usually the first sign of the disease. In this study, we investigate the real prevalence of xanthogranulomas juvenile (JXG) and possible correlation with lymphoproliferative diseases. This is a retrospective study conducted on a population with NF1 followed by February 1983 to February 2022 at the "Sapienza" University of Rome, Italy. We investigate the real prevalence of juvenile xanthogranuloma in NF1 and possible correlation with lymphoproliferative diseases. JXG was present in 39 cases (3.1%). JXG is more frequent in NF1 than in the general population while the possible association with lymphoproliferative diseases in NF1 remains controversial.

Tumors in patients with neurofibromatosis type 1: a single- center retrospective study.

Objective: To investigate the risk and pattern of tumors in italian neurofibromatosis type 1 (NF1) patients. Materials and Methods: A retrospective single institution case review of 711 patients (seen between March 1992 and February 2018) with NF1 was conducted to identify individuals with diagnoses of both NF1 and neoplasm. NF1-associated tumors have been collected and analyzed. Results: We identified 221 tumors in 191 subjects with a percentage of 26.9%, diagnosed at a median age of 32.5 years (range, 0.6-70.1 years); 111 of these patients were females (58%) and all were fol-lowed up for a median of 5.3 years. The cumulative risks for tumor in patients with NF1 by the ages of 30 and 60 years were 10% and 42.5%, respectively. In our patients with tumor, overall survival at 70 years was significantly shorter than in those without it (50% vs 95%, P<0.0001). We found an unequivocally increased incidence for breast cancer in females (33 cases observed). Conclusions: Tumors that develop in patients with NF1 are heterogeneous, our data are consistent with other reports suggesting an increase in some cancers risk among these individuals, therefore systematic medical follow-up in people with NF1 is important.

Mite bites, comet signs and possible mammary prosthesis rejection after returning to a vacation home: a diagnostic challenge.

Pyemotes ventricosus is a free-living mite feeding on larvae or nymphs of insects, including moths, beetles, wasps and bees, that are usually found in grain, straw and firewood. When present in great number or when its food is lacking, it could accidentally bite mammals, including humans, causing a highly pruritic self-limiting dermatitis, sometimes followed by a lymphangitis known as "comet sign".We present a singular case of mite lymphangitis that surrounds and delimitates breast prosthesis in a 30-year-old Caucasian woman. Other bite in the lower abdomen did not present comet sign. The patient got the infestation in her vacation home in the South of Italy, uninhabited for 10 months since COVID-19 confinement. We hypothesize that the previous surgery made the lymphatic vessels more prone to inflammation and we compare other insect bites that can occur vacationing in a long period uninhabited room.A delayed diagnosis of comet sign implies a retarded fumigation allowing new mite bites and, in this case, extends the patient's preoccupation about the prosthesis rejection.

Madelung's disease. Two case reports with pseudoathletic appearance.

ABSTRACT: Madelung's disease is a rare syndrome characterized by the pre-sence of multiple masses of unencapsulated adipose tissue, symme-trically distributed throughout different regions. It predominantly affects middle-aged men of Mediterranean origin with a history of alcoholism. The pathogenesis is still unknown. Diagnosis is essentially established through clinical history and physical examination. We report two cases for their unusual presentation and to emphasize the importance of early diagnosis.

[18F]FDG-PET/CT and long-term responses to everolimus in advanced neuroendocrine neoplasia.

PURPOSE: This study aims to identify in patients with neuroendocrine neoplasia (NEN) the potential correlation between FDG-PET findings and responses to everolimus therapy to identify predictors of long-term efficacy. METHODS: Retrospective analysis of patients with sporadic, advanced, progressive NEN treated with everolimus was performed based on the available data on FDG-PET patients obtained before commencing therapy. Data are expressed as the median (25-75th IQR). Risk factor analysis and survival analysis were performed by logistic regression and Cox proportional hazard regression and the determination of Kaplan-Meier curves, as appropriate. RESULTS: Sixty-six patients were evaluated (NET G1 19.7%, NET G2 75.7%, and NET G3 4.6%), including 45.4% with positive FDG-PET findings. Overall, disease stabilization and a partial response were achieved for 71.2% and 6% of patients, respectively. A long-term response (> 24 months) was observed in 33% of patients. Ki67 was the only predictor of tumor progression (p = 0.03). No significant difference in clinical outcomes was observed between patients with positive or negative FDG-PET findings (median PFS was 24 months and 18 months, respectively, p = 0.337; the disease control rate was 83.3% and 70%, respectively, p = 0.245). CONCLUSIONS: Everolimus is a valid therapeutic option for advanced, progressive, well-differentiated NEN, even in patients with positive FDG-PET findings.

Management of perforated diverticulitis with generalized peritonitis. A multidisciplinary review and position paper.

Perforated diverticulitis is an emergent clinical condition and its management is challenging and still debated. The aim of this position paper was to critically review the available evidence on the management of perforated diverticulitis and generalized peritonitis in order to provide evidence-based suggestions for a management strategy. Four Italian scientific societies (SICCR, SICUT, SIRM, AIGO), selected experts who identified 5 clinically relevant topics in the management of perforated diverticulitis with generalized peritonitis that would benefit from a multidisciplinary review. The following 5 issues were tackled: 1) Criteria to decide between conservative and surgical treatment in case of perforated diverticulitis with peritonitis; 2) Criteria or scoring system to choose the most appropriate surgical option when diffuse peritonitis is confirmed 3); The appropriate surgical procedure in hemodynamically stable or stabilized patients with diffuse peritonitis; 4) The appropriate surgical procedure for patients with generalized peritonitis and septic shock and 5) Optimal medical therapy in patients with generalized peritonitis from diverticular perforation before and after surgery. In perforated diverticulitis surgery is indicated in case of diffuse peritonitis or failure of conservative management and the decision to operate is not based on the presence of extraluminal air. If diffuse peritonitis is confirmed the choice of surgical technique is based on intraoperative findings and the presence or risk of severe septic shock. Further prognostic factors to consider are physiological derangement, age, comorbidities, and immune status. In hemodynamically stable patients, emergency laparoscopy has benefits over open surgery. Options include resection and anastomosis, Hartmann's procedure or laparoscopic lavage. In generalized peritonitis with septic shock, an open surgical approach is preferred. Non-restorative resection and/or damage control surgery appear to be the only viable options, depending on the severity of hemodynamic instability. Multidisciplinary medical management should be applied with the main aims of controlling infection, relieving postoperative pain and preventing and/or treating postoperative ileus. In conclusion, the complexity and diversity of patients with diverticular perforation and diffuse peritonitis requires a personalized strategy, involving a thorough classification of physiological derangement, staging of intra-abdominal infection and choice of the most appropriate surgical procedure.

Cutaneous manifestations in neurofibromatosis type 1.

OBJECTIVE: To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1. MATERIALS AND METHODS: We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the "Sapienza" University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist. RESULT: Café-au-lait macules were shown in 1063 patients (96.5%), axillary and inguinal freckling in 991 (90%) and neurofibromas in 861 (78.1%). Other skin manifestations included: lipoma (6.2%), nevus anemicus (3.9%), psoriasis (3.4%), spilus nevus (3.2%), juvenile xanthogranuloma (3.2%), vitiligo (2.3%), Becker's nevus (1.9%), melanoma (0.7%) and poliosis (0.5%). CONCLUSION: Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. The clinical manifestations are extremely variable even within a family. This study was performed to delineate the prevalence of cutaneous manifestations in NF1.

MR-based artificial intelligence model to assess response to therapy in locally advanced rectal cancer.

PURPOSE: To develop and validate an Artificial Intelligence (AI) model based on texture analysis of high-resolution T2 weighted MR images able 1) to predict pathologic Complete Response (CR) and 2) to identify non-responders (NR) among patients with locally-advanced rectal cancer (LARC) after receiving neoadjuvant chemoradiotherapy (CRT). METHOD: Fifty-five consecutive patients with LARC were retrospectively enrolled in this study. Patients underwent 3 T Magnetic Resonance Imaging (MRI) acquiring T2-weighted images before, during and after CRT. All patients underwent complete surgical resection and histopathology was the gold standard. Textural features were automatically extracted using an open-source software. A sub-set of statistically significant textural features was selected and two AI models were built by training a Random Forest (RF) classifier on 28 patients (training cohort). Model performances were estimated on 27 patients (validation cohort) using a ROC curve and a decision curve analysis. RESULTS: Sixteen of 55 patients achieved CR. The AI model for CR classification showed good discrimination power with mean area under the receiver operating curve (AUC) of 0.86 (95% CI: 0.70, 0.94) in the validation cohort. The discriminatory power for the NR classification showed a mean AUC of 0.83 (95% CI: 0.71,0.92). Decision curve analysis confirmed higher net patient benefit when using AI models compared to standard-of-care. CONCLUSIONS: AI models based on textural features of MR images of patients with LARC may help to identify patients who will show CR at the end of treatment and those who will not respond to therapy (NR) at an early stage of the treatment.

Diffusion-weighted magnetic resonance imaging in locally advanced rectal cancer treated with neoadjuvant chemoradiotherapy.

PURPOSE: To analyze diffusion-weighted magnetic resonance imaging (DW-MRI) for treatment response assessment in locally advanced rectal cancer (LARC). PATIENTS AND METHODS: Patients with histologically proven rectal adenocarcinoma, stage II-III disease, were enrolled and underwent surgery following neoadjuvant chemoradiotherapy (nCRT). All patients were referred for a DW-MRI protocol on a 3 Tesla MR-system, consisting of axial T2-weighted and DWI sequences prior (I), during (II) and after (III) nCRT. Corresponding apparent diffusion coefficient (ADC) values were calculated. RESULTS: Between February 2011 and June 2015, 37 patients participated in the study. All patients completed programmed treatment. Overall, 11 patients (29.7%) had pathologic complete response (pCR). No correlation between the mean pre- (ADC-I), during (ADC-II), post- (ADC-III) ADC and the reduction in tumor size after nCRT was recorded. No substantial difference in the ADC distribution was found between pCR and no-pCR patients. The ADC-II level significantly increased in the pCR cases (T = 1.675; p < 0.05). CONCLUSION: ADC value could be useful for discriminating between the pCR patients and the no-pCR patients. Further studies are necessary to identify the optimal MRI parameters combination to predict tumor response to nCRT. It is hoped that these data will provide the basis for a more solid scientific evidence.

Analysis of CT features and quantitative texture analysis in patients with lung adenocarcinoma: a correlation with EGFR mutations and survival rates.

AIM: To investigate the correlation between conventional computed tomography (CT) features, quantitative texture analysis (QTA), epidermal growth factor receptor (EGFR) mutations, and survival rates in patients with lung adenocarcinoma. MATERIALS AND METHODS: Sixty-eight patients were evaluated for conventional CT features and QTA in this retrospective study. A multiple logistic regression analysis and receiver operating characteristics (ROC) curve analysis versus death and EGFR status was performed for CT features and QTA in order to assess correlation between CT features, QTA, EGFR mutations, and survival rates. A p-value <0.05 was regarded to indicate a statistically significant association. RESULTS: An EGFR mutation was identified in 26/68 tumours (38.2%). A negative association was found between EGFR mutation and emphysema (p < 0.0001) whereas a positive correlation was found with necrosis (p=0.017), air bronchogram (p=0.0304), and locoregional infiltration (p=0.0018). Mean, standard deviation, and skewness were found to have significant correlation with EGFR mutation (p=0.0001; p=0.0001; p=0.0459; Fig 3). The only parameter correlated with the event death was entropy (r=0.2708; p=0.0329). CONCLUSION: Both qualitative and quantitative analysis disclosed potential associations between CT features and QTA parameters, EGFR mutations and prognosis; these correlations need to be confirmed in larger studies to be used as imaging biomarkers in the management of patients affected by lung adenocarcinoma.

Practice parameters for the treatment of colonic diverticular disease: Italian Society of Colon and Rectal Surgery (SICCR) guidelines.

The mission of the Italian Society of Colorectal Surgery (SICCR) is to optimize patient care. Providing evidence-based practice guidelines is therefore of key importance. About the present report it concernes the SICCR practice guidelines for the diagnosis and treatment of diverticular disease of the colon. The guidelines are not intended to define the sole standard of care but to provide evidence-based recommendations regarding the available therapeutic options.

Preoperative staging of colorectal cancer using virtual colonoscopy: correlation with surgical results.

OBJECTIVE: The aim of this study was to evaluate the clinical usefulness of computed tomography colonography (CTC) in the preoperative staging in patients with abdominal pain for occlusive colorectal cancer (CRC) and to compare the results of CTC with the surgical ones. PATIENTS AND METHODS: 127 patients with abdominal pain, iron deficiency anemia and occlusive CRC underwent a CTC examination in prone position without intravenous contrast agent and in prone position after administration of intravenous contrast medium. All the patients underwent surgery after CTC. Two radiologists with different experience analyzed the images first independently and then by consensus. They evaluated the location of the lesion, the depth of the invasion of the colon-rectal wall (T stage), lymph node involvement (N stage) and the presence or absence of distant metastasis (M stage). CTC findings were correlated with surgical outcomes. RESULTS: The overall accuracy values for tumour localization according to consensus reading of CTC examinations in comparison to surgical results were 100% (K = 1, p = 0.0001). The overall accuracy values of agreement for T staging of reader 1, reader 2 and consensus reading of CTC examinations in comparison to surgical results were respectively 95.5% (K = 0.876, p = 0.0035), 93.3% (K = 0.858, p = 0.0037) and 97.7% (K = 0.926, p = 0.0014) for ≤ T2; 91.3% (K = 0.839, p = 0.0027), 88.3% (K = 0.817, p = 0.0031), and 92.9% (K = 0.894, p = 0.0025) for T3; 89.6% (K = 0.825, p = 0.0037), 86.2% (K = 0.837, p = 0.0032) and 89.6% (K = 0.821, p = 0.0023) for T4. The overall accuracy values for N staging for reader 1, reader 2 and consensus reading was 90.2% (K = 0.865, p = 0.0029). The overall accuracy values for M staging of reader 1, reader 2 and consensus reading was 92% (K = 0.875, p = 0.0019). CONCLUSIONS: CTC with is a very useful tool for accurate pre-treatment staging and localization of occlusive CRC.

Bowel cleansing before CT colonography: comparison between two minimal-preparation regimens.

AIM: To compare two regimens of reduced bowel preparation and faecal tagging for CT colonography. MATERIALS AND METHODS: Single centre, prospective, randomized, noninferiority study, in which 52 consecutive adults underwent routine CT colonography. Patients, following a three-day low-fibre diet, received one of the two reduced preparations: 1-L polyethylene glycol and four tablets of bisacodyl in association with 90 mL of Iopamidol for faecal tagging administered on the same day as CTC examination (group 1); or a standard "iodine-only" preparation, consisting in 180 ml of Iopamidol the day before the examination (group 2). Primary outcome was the overall quality of bowel preparation. RESULTS: Twenty-six patients per group were included. Per segment analysis showed preparation of diagnostic quality in 97.4% of segments in group 1 and in 95.5% in group 2 (p = ns). Per-patient analysis showed optimal quality of preparation in 76.9% of patients in group 1 and in 84.6% in group 2 (p = ns). Patient tolerability to both preparations was not different. CONCLUSION: A limited bowel preparation consisting of 1-L PEG and four tablets of bisacodyl in association with 90 mL of Iodine for faecal tagging administered on the same day as CTC examination is feasible and offers bowel cleansing comparable to "iodine-only" preparation. KEY POINTS: • Low-dose PEG bisacodyl and Iopamidol preparation is feasible, providing adequate bowel cleansing. • Faecal tagging is not different from the two limited preparations. • Patient tolerability to the two colon cleansing regimens is similar.

Role of imaging in the management of endometriosis.

The imaging techniques have a fundamental role in the diagnosis of endometriosis. Ovarian endometriosis (endometrioma) and deep endometriosis can be recognized using transvaginal ultrasound and/or magnetic resonance imaging (MRI). Although transvaginal ultrasound is the first choice of imaging modality when investigating women with pelvic pain, MRI have a role for the wider field of visions. The reproducibility of both techniques has been investigated. The three-dimensional ultrasonography has been proposed. Also studies regarding unusual localizations are reported in the literature. New insights are present about the role of imaging in the detection of the malignant transformations. This review summarizes the current evidence on the diagnostic accuracy of these two techniques in the pre-surgical assessment of endometriosis.

Gallbladder and muscular endometriosis: a case report.

A 55-year-old woman referred to Radiology Department, with abdominal mass and chronic indefinite and vague abdominal pain, most severe in right hypochondrium and accentuated during menstruation. A history of two cesarean sections was revealed. The patient underwent an ultrasound and Computed Tomography with intravenous contrast media revealing the presence of gallbladder and abdominal wall hyperenhancing masses. Finally, Magnetic Resonance study with intravenous administration of paramagnetic contrast media confirmed the involvement of gallbladder by a solid tissue and the presence of a solid nodule on the abdominal wall. Considering imaging features and the contrast enhancement of the nodules, the patient was sent to surgery. Surgical removal of both gallbladder and abdominal solid implant was performed and histology confirmed the diagnosis of gallbladder and abdominal wall endometriosis.

Conventional imaging and multiparametric magnetic resonance (MRI, MRS, DWI, MRP) in the diagnosis of prostate cancer.

The evaluation and management of prostate cancer (PCa) are based mainly on parameters such as the serum prostate-specific antigen level, clinical stage, and pathologic findings at biopsy or after surgery. The aim of this paper was to review the current roles of conventional imaging and multiparametric magnetic resonance imaging (mpMRI) techniques in the diagnosis of PCa. A non systematic literature search using the Medline and Cochrane Library databases was performed up to January 2012. Bibliographies of retrieved articles and review articles were also examined. Only those articles reporting complete data with clinical relevance for the present review (i.e., diagnosis, staging) were selected. The advent of a high performance (1.5T) and higher fields strength (3T), and thus, higher spatial resolution, increased the potentiality and the diffusion of MR examinations. Intense research has focused on the use of complementary techniques to improve the detection, characterization, and staging of PCa by MRI. This review article is divided into two major parts: the first one considers the technical aspects of mpMRI; the second part is intended to provide the impact of this technique on patients with PCa. Published data indicate an emerging role for MRI (particularly mpMRI combining T2 weighted imaging, diffusion weighted imaging, contrast enhanced MR, and spectroscopy) as the most sensitive and specific tool available for imaging PCa. MpMRI can provide metabolic information, characterize tissue and tumor vascularity, as well as tissue cellularity and correlate with tumor aggressiveness.

Grading luminal Crohn's disease: which MRI features are considered as important?

OBJECTIVES: Magnetic resonance imaging (MRI) is increasingly used for disease activity grading in small bowel Crohn's disease. It is not known which imaging features are essential for grading. For further insight, we solicited the opinion of expert radiologists. METHODS: A questionnaire about the grading of Crohn's disease was sent to 36 radiologists who had published on MRI grading of Crohn's disease between January 2006 and January 2010. Radiologists were asked which MRI protocol they used, how they graded luminal Crohn's disease, which features they used, how important they considered those features for grading, and which reference standards they used. RESULTS: Twenty-four radiologists responded (66%). They used different protocols and features; most frequently T2-weighted sequences (79%) and contrast enhanced fat saturated T1-weighted sequences (83%). MR-enterography was more often used than MR-enteroclysis (88% versus 33%). Features most frequently considered important for grading were bowel wall thickness (79% of radiologists), the presence of an abscess (75%), T1 enhancement (75%), and T1 stratification (46%). Reference standards differed; most commonly (ileo-) colonoscopy (88%) or surgery (75%) were used. CONCLUSIONS: Bowel wall thickness, abscess, T1 enhancement and T1 stratification are most often used for grading. Because of difference in grading, there is need for an international consensus on MRI grading of Crohn's disease.

Peritoneal carcinomatosis: imaging with 64-MDCT and 3T MRI with diffusion-weighted imaging.

Peritoneal carcinomatosis is usually associated with a poor overall survival rate. Recently, introduction of more aggressive surgical treatment and intraperitoneal chemotherapy appears to significantly increase the overall survival rate for these patients. A detailed preoperative assessment of peritoneal carcinomatosis could be very challenging in the field of imaging, but a new aggressive surgical approach requires an accurate preoperative assessment of the disease. Cross-sectional imaging using CT and MRI with diffusion-weighted imaging (DWI) sequences is important for appropriate management of patients with peritoneal carcinomatosis. Appreciation of the spectrum of diagnostic patterns and pitfalls as well as different sites of involvement of peritoneal carcinomatosis using CT and DWI is crucial for appropriate surgical treatment.