Urachal mucinous cystic tumor of low malignant potential in a polymorbid female: a case report and review of the literature

Neoplasms of the urachus are exceedingly rare, representing 0.17% of all bladder cancers. The mucinous cystic tumor of low malignant potential (MCTLMP) subtype is particularly rare with just 25 previous cases reported in the literature. Although rare, MCTLMPs are important to identify due to potential devastating complications and good cure rates with surgical removal. We present a 43 year old female with a nuanced constellation of comorbidities and confirmed MCTLMP following a workup for abdominal pain and irritative lower urinary tract symptoms. Notably, this tumor did not change in size over a 3-year course of serial imaging prior to surgical excision. This urachal MCTLMP represents roughly the 26th and one of the smallest of its subtype reported in the literature. This case illustrates the diagnosis and management of this rare urachal MCTLMP. Individual patient medical history, clinical considerations, and neoplasm characteristics are examined. Although rare, the potential for increased malignancy and potential complications necessitates surgical management and further investigation by the academic community.

Relevance of gene mutations and methylation to the growth of pancreatic intraductal papillary mucinous neoplasms based on pyrosequencing

We aimed to assess some of the potential genetic pathways for cancer development from non-malignant intraductal papillary mucinous neoplasm (IPMN) by evaluating genetic mutations and methylation. In total, 46 dissected regions in 33 IPMN cases were analyzed and compared between malignant-potential and benign cases, or between malignant-potential and benign tissue dissected regions including low-grade IPMN dissected regions accompanied by malignant-potential regions. Several gene mutations, gene methylations, and proteins were assessed by pyrosequencing and immunohistochemical analysis. RASSF1A methylation was more frequent in malignant-potential dissected regions (p = 0.0329). LINE-1 methylation was inversely correlated with GNAS mutation (r = − 0.3739, p = 0.0105). In cases with malignant-potential dissected regions, GNAS mutation was associated with less frequent perivascular invasion (p = 0.0128), perineural invasion (p = 0.0377), and lymph node metastasis (p = 0.0377) but significantly longer overall survival, compared to malignant-potential cases without GNAS mutation (p = 0.0419). The presence of concordant KRAS and GNAS mutations in the malignant-potential and benign dissected regions were more frequent among branch-duct IPMN cases than among the other types (p = 0.0319). Methylation of RASSF1A, CDKN2A, and LINE-1 and GNAS mutation may be relevant to cancer development, IPMN subtypes, and cancer prognosis.

Baseline and contrast-enhanced ultrasound features of hepatic epithelioid angiomyolipoma

BACKGROUND: Recurrence or metastasis after surgery had been reported in hepatic epithelioid angiomylipoma (epi-AML). Most hepatic epi-AMLs were misdiagnosed with hepatocellular carcinoma or other hepatic tumors before surgery. OBJECTIVE: To describe the baseline and contrast-enhanced ultrasound (CEUS) features of hepatic epi-AMLs and to explore the potential ultrasonic features for prognosis. METHODS: The retrospective study enrolled 67 patients (56 females, 11 males) with 67 pathologically confirmed hepatic epi-AML lesions. All the lesions were examined by baseline ultrasound and 42 lesions were examined using CEUS with SonoVue (Bracco, Milan, Italy) before surgery. RESULTS: Baseline ultrasound features of hepatic epi-AMLs included heterogeneous echo (86.6%), well-defined border (68.7%), hypoecho (64.2%), regular morphology (62.7%), peripheral-tumor arc-shaped or ring-like vessels (53.7%), and low value of resistive index (0.51±0.08). CEUS features of hepatic epi-AMLs included arterial phase hyper-enhancement with smooth and well-defined margin (100%), peripheral-tumor ring-like vessels (57.1%), and intra-tumor vessels (52.4%). Some CEUS features, including arterial phase heterogeneously tortuous filling, intra-tumor vessels and peripheral-tumor ring-like vessels were more commonly found in hepatic epi-AMLs of uncertain malignant potential/malignant than in benign hepatic epi-AMLs (p < 0.05). CONCLUSIONS: Baseline ultrasound and CEUS features may be useful in diagnosis of hepatic epi-AML, and some CEUS features may be indicative of its malignant potential.

Transmission of synovial sarcoma from a single multi-organ donor to three transplant recipients: case report

Background Transmission of malignancy is a notable problem that cannot always be absolutely predicted at the time of transplantation. In particular, donor-derived transmission of synovial sarcoma in solid-organ transplantation is a rare but catastrophic event. Case presentation We are the first to report three cases of synovial sarcoma transmitted from a single multi-organ donor in China. The donor died of respiratory failure caused by an intrathoracic tumor, which was diagnosed as benign at the time of donation. All three recipients developed synovial sarcoma 3–13 months after transplantation; all three cases were confirmed to be donor transmitted. The liver transplant recipient died of tumor metastasis after partial-allograft hepatectomy. The two renal-transplant recipients survived after comprehensive therapy, including allograft nephrectomy, withdrawal of immunosuppressants and targeted therapy with anlotinib. Conclusions This report highlights the importance of detailed donor assessment, close follow-up and timely treatment of unexpected donor-transmitted malignancy. Although pathology is the most important evidence for the exclusion of donors for malignant potential, it should be combined with tumor type, tumor size and speed of growth. Organs from donors with malignant potential should be discarded. Allograft nephrectomy should be considered after confirmation of renal-allograft synovial sarcoma. Anlotinib for synovial sarcoma seems to be effective and well tolerated during long-term follow-up.

P-BN21 Diagnostic accuracy of transabdominal ultrasound for assessing gallbladder polyps

Background Gallbladder polyps are common findings on transabdominal ultrasound (TAUS) and their implications are not entirely clear. Current guidelines advise monitoring with serial TAUS and to offer laparoscopic cholecystectomy if criteria are met to minimise risk of malignant transformation. TAUS is easily accessible and useful at identifying gallbladder polyps, however, has limitations when differentiating between pseudopolyps and true gallbladder polyps with malignant potential. This study looks at a district general hospital’s outcomes for patients undergoing laparoscopic cholecystectomy for gallbladder polyps. Methods This retrospective study identified patients who had polyps identified on TAUS and subsequently undergone laparoscopic cholecystectomy from 2011 to 2021. We identified patients using hospital coding and subsequently assessed their pre-operative imaging and clinic letters to ensure gallbladder polyps were the reason for cholecystectomy. The size of polyp on TAUS was noted and pathology reports were assessed to determine if polyps had been correctly identified on TAUS and if these were true or pseudopolyps. Clinic letters were assessed to determine if patients were symptomatic pre-operatively. Results 66 patients were identified as having polyps pre-operatively. The size of polyp ranged from 2-19mm with a mean of 7.4mm. 39 (59%) patients were symptomatic pre-operatively. TAUS findings correlated with pathology findings of polyps in 45 (68%) patients. Of the 21 patients with no polyps on pathology: 11 had gallstones, 9 had chronic cholecystitis and 1 normal gallbladder. Of the polyps identified 44 were pseudopolyps and only 1 was a true adenoma – 39 cholesterol polyps, 3 inflammatory polyps and 2 adenomyomatosis. There was no evidence of dysplasia on the adenoma, it measured 5mm on TAUS and the patient was symptomatic. Conclusions This study highlights the limitations of TAUS in correctly identifying true polyps. The 41% of asymptomatic patients all had benign findings on pathology and likely had no benefit from surgery. Whilst TAUS is a useful method of identifying potential polyps these findings would suggest that other methods of identifying true polyps should be sought to minimise patients undergoing unnecessary surgery.

Primary Adenocarcinoma at Colostomy Site: Report of a Clinical Case

Colorectal cancer (CRC) is the fourth most frequently diagnosed cancer in the United States and it is found in 17% of patients thought to have complicated diverticular disease. However, primary adenocarcinoma rarely occur in the colostomy site and the risk of developing malignancy is similar to that of any other colonic segment. Polyps found in CRC screenings can be divided into the following types: hyperplastic polyps, polyps with no malignant potential, adenomatous polyps, polyps with malignant potential, and malignancies. Local complications of the colostomy can appear in the immediate, early, or late postoperative period, with an incidence ranging from 15 to 30%; neoplasia is even less common.

Precision Medicine in Phaeochromocytoma and Paraganglioma

Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours with uncertain malignant potential. Over recent years, the molecular profiling of PPGLs has increased our understanding of the mechanisms that drive tumorigenesis. A high proportion of PPGLs are hereditary, with non-hereditary tumours commonly harbouring somatic mutations in known susceptibility genes. Through detailed interrogation of genotype-phenotype, correlations PPGLs can be classified into three different subgroups or clusters. Thus, PPGLs serve as an ideal paradigm for developing, testing and implementing precision medicine concepts in the clinic. In this review, we provide an overview of PPGLs and highlight how detailed molecular characterisation of these tumours provides current and future opportunities for precision oncology.