Novel EIF5A-USP6 Gene Fusion in Nodular Fasciitis Associated With Unusual Pathologic Features: A Report of a Case and Review of the Literature.

Nodular fasciitis (NF) is a benign self-limiting soft tissue lesion that has long been considered a reactive process. Recently, however, the USP6 gene rearrangement has been discovered, and the neoplastic nature of this tumor was suggested. Since then, many fusion partners of the USP6 gene have been reported, with the MYH9 gene as the most common. In this article, we describe a case of NF with a novel EIF5A-USP6 gene fusion associated with unusual pathological features. A 41-year-old healthy woman with a painful, rapidly growing subcutaneous mass on the left forearm with a size of 0.8 cm is presented. A soft tissue fragment measuring 1 cm was surgically excised. Owing to positive surgical margins, re-excision was performed, yielding another 2-cm fragment. The lesion was extensively histologically investigated. Immunohistochemical and molecular-genetic analysis, namely fluorescence in situ hybridization, next-generation sequencing, and reverse transcriptase-polymerase chain reaction, were also performed. Histology revealed a dermally located, mitotically active myofibroblastic proliferation with myxoid areas that ulcerated the overlying epidermis. One atypical mitotic figure was also found. The lesion showed positive immunohistochemical staining with smooth muscle actin, whereas S100 protein and CD34 stains were negative. Using fluorescence in situ hybridization, the USP6 gene rearrangement was detected and subsequent analysis using the Archer fusionPlex Sarcoma kit revealed a novel EIF5A-USP6 gene fusion. In the appropriate clinicopathological context, the detection of USP6 gene rearrangement is extremely useful when diagnosing NF, significantly reducing the risk of misdiagnosis and inappropriate overtreatment.

Extraskeletal myxoid chondrosarcoma: A study of 17 cases focusing on the diagnostic utility of INSM1 expression and presenting rare morphological variants associated with non-EWSR1::NR4A3 fusions.

Extraskeletal myxoid chondrosarcoma (EMC) is a rare sarcoma of uncertain lineage. Insulinoma-associated protein 1 (INSM1) has recently been described as a highly specific and sensitive immunohistochemical marker for EMC. The goal of this study was to evaluate the diagnostic significance of INSM1 immunohistochemistry in EMC. Furthermore, correlations between molecular and morphological findings were performed. Sixteen of 17 EMC cases were stained with the INSM1 antibody. Tumors with at least 5% INSM1-positive cells and any staining intensity were considered positive. Molecular testing was successfully performed in 12/17 cases. The immunohistochemical analysis detected 13 INSM1-positive (81%) and 3 INSM1-negative tumors (19%). The extent of the staining was classified as 1+ in 7 cases (44%), 2+ in 2 cases (13%), 3+ in 2 cases (13%) and 4+ in 2 cases (13%). Intensity of immunostaining was weak in 5 cases (31%), moderate in 2 cases (13%) and strong in 6 cases (38%). Molecular assays revealed 8 EWSR1::NR4A3 positive tumors (67%), 2 TAF15::NR4A3 positive tumors (17%), 1 TCF12::NR4A3 positive tumor (8%) and 1 NR4A3 positive tumor (8%) in which no other gene alteration was identified. Two of them, namely TCF12 positive and one TAF15 positive tumors, were highly cellular and partially associated with pseudopapillary architecture. Our study found that moderate/strong expression of INSM1 in more than 25% of tumor cells was present in only 31% of cases. Thus, the diagnostic utility of INSM1 is rather low. Two morphologically unique cases of non-EWSR1 rearranged EMC with an extremely rare pseudopapillary growth pattern are also reported.

Rectal perforation caused by deep infiltrating endometriosis in non-pregnant woman: Case report and short review of the literature.

AIM: The aim of this paper is to describe an unique case of deep infiltrating endometriosis of the rectum in non-pregnant woman with unusual clinical and pathological presentation resulting in spontaneous perforation. MATERIALS AND METHODS: A female (20 years of age) with a two year history of chronic recurrent abdominal pain of unknown etiology treated by a psychiatrist underwent diagnostic laparoscopy which revealed many peritoneal implants of endometriosis involving the right ovarian fossa, the vesico-uterine pouch and sacrouterine ligament; the bowel wall showed no structural abnormalities. Peritonectomy of the broad and uterosacral ligaments was used and eight days after the operation, the patient developed crampy abdominal pain and enterorrhagia necessitating laparoscopic revision; pelvic haematoma and rectosigmoiditis were found. Over the next three days, perforation of the rectum resulted in the presence of fecal material in the surgical drain. RESULTS: Lower rectal resection with ileostomy was performed. Microscopic examination revealed discrete small endometriotic lesions in submucosa, muscular layer and serosa of the rectum associated with perforation. DISCUSSION: Laparoscopy and laparotomy may be insufficient in the case of an inactive endometriosis. Definitive diagnosis is thus reached only by the histological examination. The pathophysiology of the bowel perforation secondary to endometriosis is not entirely clear. CONCLUSION: The presented case confirms the importance of interdisciplinary cooperation between surgeons, gynaecologists, and pathologists. We also want to emphasize the need for extensive pathological examination of the resected specimens which is essential for a proper diagnosis. KEY WORDS: Endometriosis, Rectum, Spontaneous perforation.

Endometriosis with an aberrant immunophenotype: Challenging differential diagnosis of glandular lesions in the pelvic lymph nodes.

CASE REPORT: We describe an unusual case of pelvic lymph node endometriosis with an aberrant immunophenotype mimicking metastasis of adenocarcinoma. A 37-year-old patient with a history of invasive cervical adenocarcinoma stage pT1a2 is presented. Due to insufficient loop electrosurgical excision procedure (LEEP) conization, total laparoscopic hysterectomy with pelvic lymphadenectomy was indicated. Intraoperatively, the diagnosis of deep infiltrating endometriosis of parametrial ligament and vesicouterine pouch, endometrioma of the left ovary and Allen Master's syndrome was suspected; the patient had no history or clinical symptoms of endometriosis. A PubMed search of similar cases was followed by a comparison to this case and discussion of the differential diagnosis of glandular lesions in the pelvic lymph nodes is reported. RESULTS: Histological investigation showed no residual neoplasia; the diagnosis of endometriosis was confirmed. An interesting microscopic finding was represented by a solitary glandular lesion in one pelvic lymph node. Using immunohistochemistry, it was demonstrated that there was a complete loss of oestrogen and progesterone receptor expression (unlike parametrial ligament endometriosis). The diagnosis of endometriosis was based on the presence of endometrial stroma; malignancy was excluded by bland cytomorphologic features and results of immunohistochemical examination. CONCLUSIONS: This type of aberrant of the endometriotic gland immunophenotype has never been presented in the scientific literature before. This finding plays a significant role from the pathology standpoint and, perhaps more importantly, from the clinical standpoint. An asymptomatic patient with a correct diagnosis of lymph node endometriosis did not undergo excessive treatment for false positive diagnosis of metastatic cervical adenocarcinoma.