A Novel DNA Variant in SMARCA4 Gene Found in a Patient Affected by Early Onset Colon Cancer.

Colorectal cancer is the third leading cause of death from neoplasia worldwide. Thanks to new screening programs, we are now seeing an increase in Early Onset of ColoRectal Cancer (EOCRC) in patients below the age of 50. Herein, we report a clinical case of a woman affected by EOCRC. This case illustrates the importance of genetic predisposition testing also in tumor patients. Indeed, for our patient, we used a combined approach of multiple molecular and cellular biology technologies that revealed the presence of an interesting novel variant in the SMARCA4 gene. The latter gene is implicated in damage repair processes and related, if mutated, to the onset of various tumor types. In addition, we stabilized Patient-Derived Organoids from the tumor tissue of the same patient and the result confirmed the presence of this novel pathogenic variant that has never been found before even in early onset cancer. In conclusion, with this clinical case, we want to underscore the importance of including patients even those below the age of 50 years in appropriate screening programs which should also include genetic tests for predisposition to early onset cancers.

Preservation of the inferior mesenteric artery VS ligation of the inferior mesenteric artery in left colectomy: evaluation of functional outcomes-a prospective non-randomized controlled trial.

Vascular approach during elective laparoscopic left colectomy impacts post-operative outcomes. The aim of our study was to evaluate how different approaches impact positively defecatory, urinary and sexual functions and quality of life during elective laparoscopic left colectomy. A prospective non-randomized controlled trial at two tertiary center was conducted. All patients who underwent elective laparoscopic left colonic resection from January 2019 to July 2022 were analyzed. They were divided into two groups based on Inferior Mesenteric Artery (IMA) preservation with distal ligation of sigmoid branches close to a colonic wall for complicated diverticular disease and IMA high tie ligation for oncological disease. Patients were asked to fulfil standardized, validated questionnaires to evaluate pre and post-operative defecatory, urinary and sexual functions and quality of life. Defecatory disorders were assessed by high-resolution anorectal manometry preoperatively and six months after surgery. A total of 122 patients were included in the study. The 62 patients with IMA preservation showed a lower incidence of defecatory disorders also confirmed by manometer data, minor incontinence and less lifestyle alteration than the 60 patients with IMA high tie ligation. No urinary disorders such as incomplete emptying, frequency, intermittence or urgency were highlighted after surgery in the IMA preservation group. Evidence of any sexual disorders remained controversial. The IMA-preserving vascular approach seems to be an effective strategy to prevent postoperative functional disorders. It is a safe and feasible technique especially for diverticular disease. New prospective randomized and highly probative studies are needed to confirm the effectiveness in specific clinical situations.

Could Stoma Be Avoided after Laparoscopic Low Anterior Resection for Rectal Cancer? Experience with Transanal Tube in 195 Cases.

Anastomotic leakage is the most-feared complication of rectal surgery. Transanal devices have been suggested for anastomotic protection as an alternative to defunctioning stoma, although evidence is conflicting, and no single device is widely used in clinical practice. The aim of this paper is to investigate the safety and efficacy of a transanal tube for the prevention of leakage following laparoscopic rectal cancer resection. A transanal tube was used in the cases of total mesorectal excision with low colorectal or coloanal anastomosis, undamaged doughnuts, and negative intraoperative air-leak test. The transanal tube was kept in place until the seventh postoperative day. A total of 195 consecutive patients were retrieved from a prospective surgical database and included in the study. Of these, 71.8% received preoperative chemoradiotherapy. The perioperative mortality rate was 1.0%. Anastomotic leakage occurred in 19 patients, accounting for an incidence rate of 9.7%. Among these, 13 patients underwent re-laparoscopy and ileostomy, while 6 patients were managed conservatively. Overall, the stoma rate was 6.7%. The use of a transanal tube may be a suitable strategy for anastomotic protection following restorative rectal cancer resection. This approach could avoid the burden of a stoma in selected patients with low anastomoses.

Laparoscopic splenic artery aneurysmectomy with ICG guided partial splenectomy: alternative approach.

We herein report the case of a voluminous splenic artery aneurysm (SAA) diagnosed in a 48 year-old Caucasian male patient. After endovascular treatment failure, considering the volumetric aneurysm increase and recurrent symptoms, a laparoscopic splenic artery aneurysmectomy with partial splenectomy guided by indocyanine green fluorescence (ICG) was performed. This conservative strategy leads to save a spleen volume of about 10 cm3 to avoid postsplenectomy thrombocytosis and infections, potential immunodeficiency and overwhelming postsplenectomy infection syndrome (OPSS) and to preserve pancreatic vascularization preventing distal pancreas injuries.

An encapsulated oncoytic neoplasm of follicular origin of thyroid, expressing neuroendocrine markers. A case report and literature review.

A case is reported of an oncocytic tumor of the thyroid expressing simultaneously follicular and neuroendocrine markers, but not calcitonin. The data reported in the literature and the possible relationships of these lesions with the calcintonin-negative medullary carcinomas were examined.

A rare neurendocrine tumor of the lung: sclerosing paraganglioma. A neoplasm that is difficult to diagnose and a source of dangerous pitfalls. A case report and literature review.

An endobronchial obstructing neoformation was found in a 58-year-old man. The histology and immunohistochemical profile oriented the authors towards a diagnosis of paraganglioma, sclerosing variant. This very difficult diagnosis, especially in a pulmonary localization, may lead to erroneous conclusions both in terms of histogenetic interpretation and that of its biological behavior. The pulmonary localization of the paraganglioma is very rare and even more rare the sclerosing variant, recently reported. Differential diagnosis and literature are discussed.

Very Rare Liver Neoplasm: Lymphoepithelioma-Like (LEL) Hepatocellular Carcinoma.

A case of lymphoepithelioma-like (LEL) hepatobiliary carcinoma is reported. To date, only 89 cases of this rare neoplasm have been reported, with both hepatocellular and cholangiocellular histotype. The case reported here could be classified as LEL mixed hepatobiliary carcinoma (Hepato-Cholangio), a histotype not reported so far in the LEL variant.

On a Rare Cutaneous Metastasis from a Sacrococcygeal Chordoma.

Chordomas are rare malignant tumors of notochordal origin and are rare locally aggressive ones with a metastatic potential. The skin rarely is seen as metastatic site. We describe a case of an adult woman with cutaneous metastasis of a primary sacral chordoma excised ten years before, which appeared as a painless cutaneous mass located in the dorsal region. Once removed, the surgical specimen was formalin fixed and in paraffin embedded. Sections were stained with haematoxylin-eosin, and histochemical and immunohistochemical investigations were performed. Histologically, the neoplasia was characterized by cords or single tumor cells with an abundant myxoid stroma, conspicuous pale vacuolated cytoplasm (the classic "physaliphorous cells"), and mild nuclear atypia. Mitotic activity was scanty. At immunohistochemistry, the tumor cells were diffusely positive for S-100 protein, pan-keratins, EMA, and vimentin. A diagnosis of cutaneous metastasis of chordoma was performed. This case illustrates a diagnostic challenge because of the unusual presentation of an already rare tumor.

Polypoid Carcinoma of the Oropharynx with Stromal Ossifying Myofibroblastic Proliferation: A Case Report and Literature Review.

A 76-year-old man reported a worsening difficulty in swallowing, leading to the inability to eat. Physical examination and CT scan revealed a polypoid mass on the posterior oropharynx and obstructing the oropharyngeal space. Histologically, the surface was ulcerated. In the underlying necrotic rim, there was active granulation tissue, and a proliferation of voluminous, globoid elements with hyperchromatic and irregular nucleus, sometimes arranged in a alveolar aggregate. The core of the lesion contained spindle-like myoid elements in interwoven bundles, with trabeculae of osteoid matrix maturing into calcified bone. Immunohistochemistry documented positivity for cytokeratins, epithelial membrane antigen, and P63 in the globoid elements beneath the necrotic rim; strong and diffuse expression of vimentin, smooth muscle actin, and CD99 and BCL2 in the spindle elements; and complete negativity for cytokeratin 5/6, high molecular weight cytokeratin (clone 34ßE12), S100, muscle-specific actin, desmin, CD117, and anaplastic lymphoma kinase. The lesion was morphologically and immunophenotypically classified as a polypoid oropharyngeal carcinoma with ossifying myofibroblastic stromal proliferation.

Pancreatic-type acinar cell carcinoma of the stomach beneath a focus of pancreatic metaplasia of the gastric mucosa.

Acinar cell carcinoma is an uncommon type of carcinoma of the pancreas that can exceptionally arise in ectopic pancreatic tissue. Herein, we report a case of a 52-year-old man with pancreatic-type acinar cell carcinoma of the stomach and concomitant pancreatic metaplasia of the adjacent nonneoplastic gastric mucosa. There was neither clinical nor radiographic evidence of a tumor in the pancreas itself. A subtotal gastrectomy was performed. Macroscopically, an ulcerated tumor, measuring 4 x 1.7 cm, was found in the distal antrum. Microscopically, the biopsy and the surgical specimen revealed a neoplasm with a predominantly trabecular architecture composed of moderately atypical cells with finely dispersed chromatin and indistinct nucleoli. The neoplastic cells and those of the adjacent metaplastic mucosa were both strongly immunoreactive for alpha-1-antitrypsin, consistent with pancreatic acinar cell differentiation. Ectopic pancreatic-type acinar cell carcinoma is an extremely rare condition, having been previously reported only in 5 occasions, none of them in association with pancreatic acinar cell metaplasia of the gastric mucosa.