Congenital pancreatoblastoma: a case report

The literature describes 15 cases of congenital pancreatoblastoma (PB): 5 had prenatal diagnosis, none had metastases at diagnosis, 7 were associated with BeckwitheWiedemann syndrome (BWS). In 13 cases resection was radical, while in 2 there were macroscopic residues. Only one patient underwent chemotherapy after distant recurrence. All children are alive except one who died because of problems related to BWS. Our goal is to describe the approach adopted in an infant with congenital PB treated in our center. After a prenatal third semester diagnosis of abdominal anechoic lesion, the radiological investigations (ultrasound, MRI) performed at birth described a cystic lesion of unclear nature. We proceeded to laparoscopic exploration, transformed into open approach after the detection of a lesion located in the body of the pancreas; this lesion was resected, preserving the head and tail of pancreas. The histological diagnosis showed a completely excised PB. After excluding metastatic lesions, we decided to perform only careful follow-up without chemotherapy. The follow-up at 12 months is negative. Although PB is a malignant tumor that requires a multidisciplinary treatment, the congenital cases seem to have a less aggressive biological behavior. The treatment, therefore, in case of complete resection, could be only surgical, followed by a careful follow-up. These forms are often associated with congenital BWS, but in our case the patient did not have the typical characteristics of the syndrome

The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: How genetics, radiology and anthropometry can help the pediatrician in the diagnostic process padova (April 20th, 2011)

The growth of the human body depends from a complex interaction between nutritional, environmental and hormonal factors and by a large number of different genes. One of these genes, short stature homeobox (SHOX), is believed to play a major role in growth. SHOX haploinsufficiency is associated with a wide spectrum of conditions, all characterized growth failure such as Leri-Weill dyschondrosteosis , Turner syndrome, short stature with subtle auxological and radiological findings and the so called “idiopathic short stature” (short stature with no specific findings other than growth failure). The document was prepared by a multidisciplinary team (paediatric endocrinologists, paediatrician, radiologist, geneticist and epidemiologist) to focus on the investigation of children with suspected SHOX- deficiency (SHOX-D) for an early identification and a correct diagnostic work - up of this genetic disorder. On the basis of a number of screening studies, SHOX-D appears to be a relatively frequent cause of short stature. The following recommendations were suggested by our multidisciplinary team: (i) a careful family history, measurements of body proportions and detection of any dysmorphic features are important for the suspect of a genetic disorder ,(ii)the presence of any combination of the following physical findings, such as reduced arm span/ height ratio, increased sitting height/height ratio, above average BMI, Madelung deformity, cubitus valgus, short or bowed forearm, dislocation of the ulna at the elbow, or the appearance of muscular hypertrophy, should prompt the clinician to obtain a molecular analysis of the SHOX region, (iii) it is of practical importance to recognise early or mild signs of Madelung deformity on hand and wrist radiographs, (iv) growth hormone ,after stimulation test, is usually normal . However, treatment with rhGH may improve final adult height; the efficacy of treatment is similar to that observed in those treated for Turner syndrome

The SHOX Gene and The Short Stature. Roundtable On Diagnosis and Treatment of Short Stature Due To SHOX Haploinsufficiency: How Genetics, Radiology And Anthropometry Can Help The Pediatrician in The Diagnostic Process Padova

SHOX haploinsufficiency is associated with a wide spectrum of conditions, all characterized growth failure. The document was prepared by a multidisciplinary team (paediatric endocrinologists, paediatrician, radiologist, geneticist and epidemiologist) to focus on the investigation of children with suspected SHOX- deficiency (SHOX-D) for an early identification and a correct diagnostic work - up of this genetic disorder

Real Life Clinical Management and Survival in Advanced Cutaneous Melanoma: The Italian Clinical National Melanoma Registry Experience

Background: Cutaneous melanoma (CM) is one of the most aggressive types of skin cancer. Currently, innovative approaches such as target therapies and immunotherapies have been introduced in clinical practice. Data of clinical trials and real life studies that evaluate the outcomes of these therapeutic associations are necessary to establish their clinical utility. The aim of this study is to investigate the types of oncological treatments employed in the real-life clinical management of patients with advanced CM in several Italian centers, which are part of the Clinical National Melanoma Registry (CNMR). Methods: Melanoma-specific survival and overall survival were calculated. Multivariate Cox regression models were used to estimate the hazard ratios adjusting for confounders and other prognostic factors. Results: The median follow-up time was 36 months (range 1.2-185.1). 787 CM were included in the analysis with completed information about therapies. All types of immunotherapy showed a significant improved survival compared with all other therapies (p=0.001). 75% was the highest reduction of death reached by anti-PD-1 (HR=0.25), globally immunotherapy was significantly associated with improved survival, either for anti-CTLA4 monotherapy or combined with anti-PD-1 (HR=0.47 and 0.26, respectively) and BRAFI+MEKI (HR=0.62). Conclusions: The nivolumab/pembrolizumab in combination of ipilimumab and the addition of ant-MEK to the BRAFi can be considered the best therapies to improve survival in a real-world-population. The CNMR can complement clinical registries with the intent of improving cancer management and standardizing cancer treatment

CDKN1B mutation and copy number variation are associated with tumor aggressiveness in luminal breast cancer

The CDKN1B gene, encoding for the CDK inhibitor p27kip1, is mutated in defined human cancer subtypes, including breast, prostate carcinomas and small intestine neuroendocrine tumors. Lessons learned from small intestine neuroendocrine tumors suggest that CDKN1B mutations could be subclonal, raising the question of whether a deeper sequencing approach could lead to the identification of higher numbers of patients with mutations. Here, we addressed this question and analyzed human cancer biopsies from breast (n = 396), ovarian (n = 110) and head and neck squamous carcinoma (n = 202) patients, using an ultra-deep sequencing approach. Notwithstanding this effort, the mutation rate of CDKN1B remained substantially aligned with values from the literature, showing that essentially only hormone receptor-positive breast cancer displayed CDKN1B mutations in a relevant number of cases (3%). However, the analysis of copy number variation showed that another fraction of luminal breast cancer displayed loss (8%) or gain (6%) of the CDKN1B gene, further reinforcing the idea that the function of p27kip1 is important in this type of tumor. Intriguingly, an enrichment for CDKN1B alterations was found in samples from premenopausal luminal breast cancer patients (n = 227, 4%) and in circulating cell-free DNA from metastatic luminal breast cancer patients (n = 59, 8.5%), suggesting that CDKN1B alterations could correlate with tumor aggressiveness and/or occur later during disease progression. Notably, many of the identified somatic mutations resulted in p27kip1 protein truncation, leading to loss of most of the protein or of its C-terminal domain. Using a gene-editing approach in a luminal breast cancer cell line, MCF-7, we observed that the expression of p27kip1 truncating mutants that lose the C-terminal domains failed to rescue most of the phenotypes induced by CDKN1B gene knockout, indicating that the functions retained by the C-terminal portion are critical for its role as an oncosuppressor, at least in luminal breast cancer. © 2020 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland

Patologia infiammatoria intestinale: diagnostica per immagini

In extens

Testicular cystic dysplasia: evaluation of 3 new cases treated without surgery

PURPOSE: We describe 3 cases of testicular cystic dysplasia that were diagnosed only by sonography to avoid an invasive approach. MATERIALS AND METHODS: Three patients 5, 8 and 12 years old, respectively, had increased testicular volume and/or intermittent pain. Sonographic examination of the testis by high frequency (7.5 mHz.) probes showed the typical onset of testicular cystic dysplasia, characterized by several small focal or diffuse intraparenchymal cystic formations. RESULTS: Biopsy or orchiectomy was not considered. At 16, 18 and 24 months of followup, respectively, testicular pain was absent in our 3 cases and sonographic findings were unchanged. CONCLUSIONS: Clinical and sonographic followup is considered sufficient to evaluate possible changes in the clinical course of this pathological condition which, although benign, still remains to be defined

CT analysis of ovarian tumors: correlations with laparoscopical and surgical findings.

This study concerns a selected group of 21 patients with ovarian carcinoma in whom CT, laparotomy, and laparoscopy findings could be compared. Considering the loco-regional and distant abdominal sites of involvement, the limits and possibilities of CT in diagnosis and follow-up are outline

Management of unresectable solid papillary cystic tumor of the pancreas. A case report and literature review

Pancreatic solid papillary cystic tumor is a rare neoplasm with an excellent prognosis if surgical excision is complete. We report on a case and review 47 more cases extracted from the published literature to assess the treatment options when solid papillary cystic tumor is considered unresectable. Chemotherapy and radiotherapy were beneficial in a limited number of patients, but therapeutic decisions must be made bearing in mind that patients may be long-term survivors without any treatment because of the tumor's slow growt