Superficial Acral Fibromyxoma: A Rare Soft Tissue Tumor.

Superficial acral fibromyxoma is a rare clinical entity, first described in 2001. It is a soft tissue tumor with a predilection for the fingers and toes. Since it was described, few cases have been reported. We present a case of an 88-year-old male with a history of a slow-growing lump in his left great toe after local trauma. The patient underwent surgical excision, and pathologic analysis revealed the diagnosis of superficial acral fibromyxoma. Although an unusual diagnosis, surgeons should be aware of this myxoid tumor, which requires complete surgical excision and short-term follow-up to detect recurrence.

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation.

BACKGROUND: We previously reported that the target genes in sporadic mismatch repair (MMR)-deficient colorectal carcinomas (CRCs) in the distal colon differ from those occurring elsewhere in the colon. This study aimed to compare the target gene mutational pattern in microsatellite instability (MSI) CRC from Lynch syndrome patients stratified by tumour location and germline mutation, as well as with that of sporadic disease. METHODS: A series of CRC from Lynch syndrome patients was analysed for MSI in genes predicted to be selective MSI targets and known to be involved in several pathways of colorectal carcinogenesis. RESULTS: The most frequently mutated genes belong to the TGF-ß superfamily pathway, namely ACVR2A and TGFBR2. A significantly higher frequency of target gene mutations was observed in CRC from patients with germline mutations in MLH1 or MSH2 when compared with MSH6. Mutations in microsatellite sequences (A)7 of BMPR2 and (A)8 of MSH3 were significantly more frequent in the distal CRC. Additionally, we observed differences in MSH3 and TGFBR2 mutational frequency between Lynch syndrome and sporadic MSI CRC regarding tumour location. CONCLUSIONS: Our results indicate that the pattern of genetic changes differs in CRC depending on tumour location and between Lynch syndrome and sporadic MSI CRC, suggesting that carcinogenesis can occur by different pathways even if driven by generalised MSI.

Epithelial dysplasia of the stomach with gastric immunophenotype shows features of biological aggressiveness.

BACKGROUND: Gastric dysplasia is classified as adenomatous/type I (intestinal phenotype) and foveolar or pyloric/type II (gastric phenotype) according to morphological (architectural and cytological) features. The immunophenotypic classification of dysplasia, based on the expression of the mucins, CD10 and CDX2, recognizes the following immunophenotypes: intestinal (MUC2, CD10, and CDX2); gastric (MUC5AC and/or MUC6, absence of CD10, and absent or low expression of CDX2); hybrid (gastric and intestinal markers); and null. METHODS: Sixty-six cases of nonpolypoid epithelial dysplasia of the stomach were classified according to morphological features (histotype and grade) and immunophenotype. Immunohistochemical staining was performed with antibodies against MUC2, MUC5AC, MUC6, CD10, CDX2, chromogranin, synaptophysin, Ki-67, and TP53. HER2 alterations were analyzed by immunohistochemistry and silver-enhanced in situ hybridization. RESULTS: By conventional histology, dysplasia was classified as adenomatous/intestinal (n = 42; 64 %) and foveolar or pyloric/gastric (n = 24; 36 %) and graded as low grade (n = 37; 56 %) or high grade (n = 29; 44 %). Immunophenotypic classification showed intestinal (n = 22; 33.3 %), gastric (n = 25; 37.9 %), hybrid (n = 17; 25.8 %), or null (n = 2; 3.0 %) phenotypes. In 20 cases a coexistent intramucosal carcinoma was identified. The intestinal immunophenotype was shown to be significantly associated with low-grade dysplasia (p = 0.001), high expression of CDX2 (p = 0.015), TP53 (p = 0.034), synaptophysin (p = 0.003), and chromogranin (p < 0.0001); the gastric immunophenotype was significantly associated with high-grade dysplasia (p = 0.001), high Ki-67 proliferative index (p = 0.05), and coexistence of intramucosal carcinoma (p = 0.013). HER2 amplification was observed in 3 cases, typed as gastric or hybrid. CONCLUSIONS: Epithelial nonpolypoid dysplasia of the stomach with gastric immunophenotype shows features of biological aggressiveness and may represent the putative precursor lesion in a pathway of gastric carcinogenesis originated de novo from the native gastric mucosa, leading to gastric-type adenocarcinoma.

Epstein-Barr Virus-Associated With Lymphoepithelial Carcinoma: A Rare Tumor of the Larynx.

Lymphoepithelial carcinoma of the larynx is a rare tumor, as this histological entity is mostly diagnosed in nasopharynx. However, it may be present in other non-nasopharyngeal sites and it is extremely rare in the larynx. The authors present a case of a 59-year-old man who presented to the Otorhinolaryngology-Head and Neck Surgery Department complaining of a long-standing dysphonia, odynophagia, and dysphagia. The clinical examination revealed a laryngeal tumor involving the right epiglottis, right aryepiglottic fold, and ipsilateral false vocal fold. It presented with ispilateral neck lymph node extension. Multiple biopsies of the laryngeal lesion were performed under local anesthesia and the histological examination showed a poorly differentiated squamous cell carcinoma. After discussing the case in a multidisciplinary tumor board, a total laryngectomy with a bilateral neck dissection was performed and the histological specimen showed a lymphoepithelial carcinoma. Although immunostaining with LMP-1 antibody was negative, in situ hybridization for Epstein-Barr virus was positive. He underwent adjuvant chemoradiation. He is now at 9-months follow-up period, with no evidence of disease. Lymphoepithelial carcinoma of the larynx is an extremely rare disease, with an aggressive pattern. Epstein-Barr virus-associated lymphoepithelial carcinoma has been exceptionally reported. A correct diagnosis and close collaboration with pathologist is crucial to achieve the best treatment strategy. We present this case to discuss the clinical and histology findings and the different therapeutic aspects of this uncommon histological subtype carcinoma.

Solitary fibrous tumour of caecum wall: an unlikely cause of low gastrointestinal haemorrhage.

Solitary fibrous tumour (SFT), previously denominated as haemangiopericytoma, is a rare, spindle cell neoplasm that was first described in the thoracic pleura. It is now known that this tumour may develop from almost any anatomic location. We report a case of SFT, in a 65-year-old man, which was located in the muscularis propria layer of the caecum with involvement of the serosa and the ileocecal appendix, location never described in the literature, and with an uncommon clinical presentation of hematochezia. A radical right hemicolectomy was performed, and the patient was asymptomatic without evidence of metastasis or relapse after 6 months of follow-up.

Pericardial mesothelioma presenting as a suspected ST-elevation myocardial infarction.

Primary cardiac and pericardial tumors are rare entities with an autopsy frequency of 0.001-0.03%. Metastases to the heart and pericardium are much more common than primary tumors. Malignant pericardial mesotheliomas account for up to 50% of primary pericardial tumors. We report the case of a 75-year-old woman with hypertension, dyslipidemia and atrial fibrillation who went to the emergency department due to nonspecific thoracic discomfort of over six hours duration associated with syncope. Physical examination revealed a low-amplitude arrhythmic pulse, no heart murmurs and no signs of pulmonary congestion. The ECG revealed atrial fibrillation with ST-segment elevation in V2-V6, I and aVL. The patient was transferred for emergent coronary angiography, which revealed a long stenosis in the mid-distal portion of the left anterior descending artery. The echocardiogram showed a large pericardial effusion with diffuse thickening of the myocardium. Due to worsening hemodynamics, cardiac rupture was suspected and the patient underwent urgent sternotomy and pericardiotomy with drainage of a large quantity of hematic fluid. The surgeons then identified a large, unresectable tumor occupying the distal half of the anterior portion of the heart. This is, to our knowledge, the first case report of primary pericardial mesothelioma presenting with suspected ST-elevation myocardial infarction. In this case, direct observation of the tumor led to biopsy and the final diagnosis. These are highly malignant tumors and when diagnosed are usually already at an advanced stage.

Intraductal Tubulopapillary Neoplasm of the Pancreas: A Clinicopathologic and Immunohistochemical Analysis of 33 Cases.

Intraductal tubulopapillary neoplasm (ITPN) is a relatively recently described member of the pancreatic intraductal neoplasm family. Thus, the literature on its histologic and immunohistochemical features, clinical behavior, and its similarities and differences from other pancreatic neoplasms is limited. Thirty-three cases of ITPN, the largest series to date, were identified. Immunohistochemical labeling for cytokeratins, glycoproteins, pancreatic enzymes, markers for intestinal and neuroendocrine differentiation, and antibodies associated with genetic alterations previously described in pancreatic neoplasms was performed. Clinicopathologic features and survival was assessed. Seventeen patients were female and 14 were male. Mean age was 55 years (range, 25 to 79 y). Median overall tumor size was 4.5 cm (range, 0.5 to 15 cm). Forty-five percent of the tumors occurred in the head, 32% in the body/tail, and 23% showed diffuse involvement. Microscopically, the tumors were characterized by intraductal nodules composed of tightly packed small tubular glands lined by cuboidal cells lacking apparent mucin. Although it was often challenging to determine its extent, invasion was present in 71%. Almost all tumors labeled for CAM5.2, CK7, and CK19; most expressed CA19.9, MUC1, and MUC6. CDX2, MUC2, trypsin, chymotrypsin, chromogranin, and synaptophysin were not expressed. SMAD4 expression was retained in 100%; p16 expression and p53 overexpression was seen in 33% and 27%, respectively. Follow-up information was available for 22 patients (median follow-up, 45 mo; range, 11 to 173 mo). Two patients with invasive carcinoma died of disease at 23 and 41 months, respectively. One patient died of unrelated causes at 49 months. Twelve patients were alive with disease. Seven patients were alive with no evidence of disease. The overall 1-, 3-, and 5-year survival rates were 100% in patients without an invasive component and 100%, 91%, and 71%, respectively, in patients with an invasive component (P=0.7). ITPN is a distinct clinicopathologic entity in the pancreas. Despite the difficulties of determining the extent of invasive carcinoma in many cases, the overall outcome seems to be relatively favorable and substantially better than that of conventional pancreatic ductal adenocarcinoma, even when only the cases with invasive carcinoma are considered.

Finding a Needle in a Haystack: The Diagnosis of a Rectal Neuroendocrine Tumor by Transrectal Prostate Biopsy.

INTRODUCTION: Prostate biopsy, usually performed by a transrectal approach, is executed when there is a suspicion of prostate cancer. Neuroendocrine tumors (NETs) are epithelial neoplasms with predominant neuroendocrine differentiation and only 19% of them are localized in the rectum. CASE REPORT: The authors describe a 73-year-old man without a significant past medical history that underwent a prostate biopsy because of urinary complaints and elevated serum levels of prostate specific antigen. The histology revealed a well-differentiated NET characterized as a low-grade tumor (G1). A total colonoscopy revealed a 5 mm sessile rectal polyp and in the splenic flexure a sessile lesion with central ulceration with 5 cm with histological features compatible with an adenocarcinoma. CONCLUSION: This is the first case reported in the literature of a rectal NET diagnosed by transrectal prostate biopsy. This case is particularly unique because the diagnosis of the NET lead to the subsequent timely detection of a colonic adenocarcinoma.

INTRODUÇÃO: A biópsia prostática transretal é realizada na suspeita de cancro da próstata. Os tumores neuroendócrinos (TNE) são neoplasias epiteliais com diferenciação predominante neuroendócrina e em 19% dos casos localizam-se no reto. CASO: Os autores descrevem o caso de um homem, 73 anos de idade, sem antecedentes médicos prévios, que por elevação dos níveis séricos de antigénio específico prostático realizou biópsia prostática transretal. A histologia revelou TNE bem diferenciado de baixo grau (G1). Foi realizada posteriormente colonoscopia total onde se observou pólipo séssil de 5 mm no reto distal. No ângulo esplénico observou-se ainda um lesão séssil de 5 cm com ulceração central cujas biopsias foram compatíveis com o diagnóstico de adenocarcinoma. CONCLUSÃO: Este é o primeiro caso relatado na literatura de um TNE retal diagnosticado por biópsia prostática transretal. Este caso é peculiar dado que o diagnóstico do TNE do reto permitiu a deteção de um adenocarcinoma do cólon num estadio inicial.