Technical Considerations in Surgical Resection of Desmoplastic Small Round Cell Tumors.

Abdominal metastatic disease is a nearly universal feature of Desmoplastic Small Round Cell Tumor. The presence of this large tumor burden can be dissuasive to surgeons. Aggressive attempts at resection of all of the dozens to hundreds of nodules in the abdomen are often fraught with difficulty. This author has operated on over 200 patients with Desmoplastic Small Round Cell Tumor and offers technical considerations that aid in complete removal of all intraabdominal tumors (sarcomatosis) with an organ sparing approach. The most challenging portion of the operation is resection of the pelvic tumor in the pouch of Douglas without removing either the bladder or the rectum. These tumors are almost always large and adherent to the bladder and rectum. The desired result should be a partial peritonectomy without any evidence of gross, visible disease.

Calcifying fibrous tumor and pathological analysis

A 55-year-old male presented to our outpatient department with complaints of upper abdominal dull pain. Gastroscopy revealed a submucosal eminence at the greater curvature of the gastric body, with smooth surface mucosa, and biopsy pathology indicated inflammation. Physical examination showed no obvious abnormalities, and laboratory results were within the normal range. Computerized tomography (CT) showed thickening of the gastric body. Endoscopic submucosal dissection (ESD) was performed,and representative photomicrographs of histologic sections were shown. (AU)

Desmoplastic small round cell tumor of the abdomen: A case report.

RATIONALE: Desmoplastic small round cell tumor (DSRCT) is a rare malignant tumor with poor prognosis, usually involving the peritoneum. There are currently no standardized treatment approaches. This study helped to further advance our understanding of DSRCT, and help to guide therapy. PATIENT CONCERNS: The patient, a 19-year-old male, presented with left-sided back pain with no obvious cause and occasional abdominal pain, and underwent abdominal electron computed tomography examination in our hospital suggesting consideration of small bowel mesenchymal tumor with possible multiple implantation metastasis in the abdominopelvic cavity. DIAGNOSES: After surgical treatment, the pathology report suggested a DSRCT, and immunohistochemistry and fluorescence in situ hybridization revealed EWSR1-WT1 gene rearrangement. Lung computer tomography and abdominal magnetic resonance imaging performed half a month later showed multiple solid nodules on the proximal septal surface of the right lung base, right posterior cardiac/right anterior inferior vena cava nodules, and multiple nodules in the abdominopelvic cavity, omenta, peritoneum, and around the liver or liver, all of which were considered as metastatic foci. INTERVENTIONS AND OUTCOMES: Patient received 5 cycles of chemotherapy after surgery. The review results showed a smaller size than before. Currently, he continues to receive treatment. LESSONS: The reported case has raised awareness of the importance of DSRCT in the treatment of chemotherapy, including its role in the differential diagnosis of abdominal tumors.

[Desmoplastic round cell tumor]. / Tumor desmoplásico de células redondas.

Desmoplastic small round cell tumor is a rare and very aggressive neoplasm that belongs to the family of "small round blue cell tumors". It has a higher incidence in males in the second decade of life. It is due to translocation t(11;22) (p13;q12). It can be located both in the abdomen and in the retroperitoneum and is characterized by nonspecific symptoms. The treatment is very varied and the one that guarantees the total cure of the patient has not yet been detected. The objective of this study is to expose a clinical case of desmoplastic tumor as an rare abdominal disease and its imaging expression.

El tumor desmoplásico de células pequeñas y redondas es una neoplasia poco frecuente y muy agresiva que forma parte de la familia de los "tumores de células pequeñas, redondas y azules". Presenta una mayor incidencia en el sexo masculino en la segunda década de la vida. Se debe a la translocación t(11;22) (p13;q12). Se puede localizar tanto en el abdomen como en el retroperitoneo caracterizándose por presentar síntomas inespecíficos. El tratamiento es muy variado y no se ha detectado todavía aquel que garantice la cura total del paciente. El objetivo del presente estudio es exponer un caso clínico de tumor desmoplásico como enfermedad abdominal infrecuente y su expresión imagenológica.

Imaging of pediatric abdominal soft tissue tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee White Paper.

This paper provides imaging recommendations for pediatric abdominal tumors that arise outside of the solid viscera. These tumors are rare in children and have been categorized in two groups: abdominal wall and peritoneal tumors (desmoid tumor and desmoplastic small round cell tumor) and tumors that arise from the gastrointestinal tract (gastrointestinal stromal tumor and gastrointestinal neuroendocrine tumor). Authors offer consensus recommendations for imaging assessment of these tumors at diagnosis, during follow-up, and when off-therapy.

Synchronous Hepatoblastoma and Neuroblastoma in Two Chinese Infants.

Background: Commonly, pediatric solid tumors occur independently. Only two patients with synchronous hepatoblastoma (HBL) and neuroblastoma (NBL) have been reported. Case reports: Two Chinese infants presented with abdominal mass at 10 and 8 months. Computed tomography (CT) scans in both revealed hepatic masses with additional mediastinal or adrenal masses. Pathology confirmed synchronous HBLs in the liver and NBLs in the mediastinum and adrenal. Next generation sequencing (NGS) found no remarkable germline mutations. Both patients received gross total resections with chemotherapy before or after surgery. They were followed up for 36 and 8 months, and recovered well. Conclusion: These two cases of synchronous HBL and NBL tumors lacked significant genetic alterations.

Seminal vesicle leiomyosarcoma: Case report and literature review.

INTRODUCTION AND BACKGROUND: Primary leiomyosarcoma of the seminal vesicle is an extremely rare and highly malignant disease with less than 15 cases reported. CASE DESCRIPTION: A 34-year-old man presented with acute urinary symptoms. Imagen studies showed an abdominal mass (80 mm × 65 mm × 50 mm) with contrast enhancement, compressing the right side of the bladder but with a clear cleavage level between surrounding organs. The patient underwent a transrectal US-guided biopsy which was informed as compatible with leiomyosarcoma by immunohistochemical characterization. We performed a cystoprostatectomy and pelvic lymphadenectomy plus radiotherapy. Pathology showed a 7.5 cm × 6 cm nodular para-vesical Leiomyosarcoma histological grade 2 with 0/22 lymph nodes involved. Twelve months after the surgery no recurrences have presented. CONCLUSION: A multi-disciplinary therapeutic approach, combined with close follow-up, is mandatory to obtain good outcomes in such rare and challenging cases.

Umbilical nodule - A not always innocuous abdominal finding.

ABSTRACT: Sister Mary Joseph's nodule is an umbilical nodule found in patients with metastatic abdominal cancers. It is quite rare finding and needs a high index of suspicion for diagnosis. Detection of Sister Mary Joseph's nodule should warrant widespread search for abdominal carcinoma and it universally carries quite poor clinical prognosis. Here, we describe the case of a 28-year-old patient who presented with Sister Mary Joseph's Nodule and was found to have metastatic signet ring cell gastric carcinoma on investigation. A brief discussion about this rare condition is also presented.

Epidermotropic Cutaneous Metastasis of Colonic Adenocarcinoma Presenting as a Sister Mary Joseph Nodule.

ABSTRACT: The Sister Mary Joseph nodule is a metastatic umbilical lesion that is seen in 1%-3% of intra-abdominal and pelvic malignancies. Cutaneous metastasis of visceral malignancies is rare and has characteristic dermal or subcutaneous involvement on histopathologic examination. Epidermotropism is described as the migration of malignant cells into the epidermis and is an unusual finding in intra-abdominal malignancies and cutaneous metastases. An 81-year-old woman with a past medical history of colorectal adenocarcinoma presented to the dermatology clinic for evaluation of an enlarging, denuded umbilical mass. A tangential biopsy was obtained and sent for histopathologic examination. Histopathologic analysis demonstrated infiltration of atypical, pleomorphic cells in the dermis with spread into the epidermis, consistent with epidermotropism. An immunohistochemical panel was performed and was consistent with cutaneous metastasis of the patient's underlying adenocarcinoma. We present a case of epidermotropic cutaneous metastasis of colorectal adenocarcinoma presenting as a Sister Mary Joseph nodule, an extremely rare occurrence that has not been well-documented in the literature.

Abdominal Wall Reconstruction Using Omental Flap with Mesh Repair following Resection of Aggressive Abdominal Wall Neoplasms.

BACKGROUND: Resection of large anterior abdominal wall tumors causes large full-thickness abdominal wall defects, and the repair of these defects remains a challenging point. METHODS: Between July 2016 and February 2021, we retrospectively reviewed the internal database registry of the Oncology Center, Mansoura University (OCMU), Egypt, for patients with large abdominal wall defects after abdominal wall tumors resection and repair with omental flaps and synthetic polypropylene (PP) mesh. Thirty-two patients met the inclusion criteria. They were analyzed for demographics and operative data including defect size, mesh size, intra-abdominal tumor extension, and postoperative outcomes and complications. RESULTS: Thirty-Two patients with abdominal wall neoplasm underwent local resection in our center and the defect was closed with an omental flap and PP mesh. The mean operative time was 143.75 ± 30.77 min. The mean size of the abdominal wall defect was 50.8 cm2 (range: 25-90 cm2). The meshes used in reconstruction had a mean size of 89.5 cm2 (range: 55-130 cm2). The median follow-up period of the patients was 13.5 months (range: 5-54 months). Postoperative complications included infection (n = 4 cases), seroma (n = 2 cases), hematoma (n = 1 case), and abnormal sensation (n = 5 cases). Tumor recurrence was reported in 2 cases, and no cases developed incisional hernia during the follow-up period. CONCLUSION: Immediate use of omental flap with synthetic PP mesh for reconstruction of abdominal wall defects is a feasible technique and has avoided the complications associated with the use of synthetic mesh alone.

Molecular Analysis of an Abdominal Wall Cesarean Section Endometrioid Carcinoma.

Malignant transformation of endometriosis is rare, and most cases concern the ovaries, while extraovarian cases are mostly found in the rectovaginal septum. Incisional adenocarcinoma is extremely rare, with only few cases reported in the literature, while their molecular profile remains unknown. Thus, we report on an abdominal wall cesarean section scar endometrioid adenocarcinoma studied by next-generation sequencing and microsatellite instability analysis.

Cytokeratin-positive Malignant Tumor in the Abdomen With EWSR1/FUS-CREB Fusion: A Clinicopathologic Study of 8 Cases.

ATF1, CREB1, and CREM, which encode the CREB family of transcription factors, are fused with EWSR1 or FUS in human neoplasms, such as angiomatoid fibrous histiocytoma. EWSR1/FUS-CREB fusions have recently been reported in a group of malignant epithelioid tumors with a predilection to the peritoneal cavity and frequent cytokeratin expression. Here, we studied 8 cytokeratin-positive abdominal malignancies with these fusions for further characterization. The tumors affected males (15 to 76 y old) and presented as intra-abdominal masses with concurrent or subsequent peritoneal dissemination, ascites, and/or metastases to the liver or lymph nodes. Four patients died of the disease within 18 to 140 months. Cases 1 to 5 showed multinodular growth of monomorphic epithelioid cells with focal serous cysts. Lymphoplasmacytic infiltration was prominent and was associated with systemic inflammatory symptoms. Two patients suffered from membranous nephropathy with nephrosis. The tumors displayed partly overlapping phenotypes with malignant mesothelioma, including diffuse strong expression of AE1/AE3 and WT1 and membranous positivity of sialylated HEG1, although calretinin was negative. Case 6 showed similar histology to cases 1 to 5, but expressed smooth muscle actin diffusely, lacked WT1 and HEG1, and harbored prominent pseudoangiomatous spaces. Cases 7 and 8 displayed dense growth of small oval to short spindle cells, with occasional molding and minor swirling, superficially resembling small cell carcinoma. Lymphoplasmacytic infiltration was not observed. The tumors were positive for AE1/AE3 and CD34 (focal), whereas calretinin, WT1, and HEG1 were negative. The detected fusions were FUS-CREM (n=4), EWSR1-ATF1 (n=2), EWSR1-CREB1 (n=1), and EWSR1-CREM (n=1). We confirmed the prior observation that these tumors do not fit perfectly with known entities and provided additional novel clinicopathologic information. The tumors require wider recognition because of more aggressive behavior than angiomatoid fibrous histiocytoma despite similar genetics, and potential misdiagnosis as unrelated diseases, such as neuroendocrine neoplasms.

Minimally invasive surgery for neuroblastic tumours: A SIOPEN multicentre study: Proposal for guidelines.

INTRODUCTION: Surgery plays a key role in the management of Neuroblastic tumours (NB), where the standard approach is open surgery, while minimally invasive surgery (MIS) may be considered an option in selected cases. The indication(s) and morbidity of MIS remain undetermined due to small number of reported studies. The aim of this study was to critically address the contemporary indications, morbidity and overall survival (OS) and propose guidelines exploring the utility of MIS for NB. MATERIALS & METHODS: A SIOPEN study where data of patients with NB who underwent MIS between 2005 and 2018, including demographics, tumour features, imaging, complications, follow up and survival, were extracted and then analysed. RESULTS: A total of 222 patients from 16 centres were identified. The majority were adrenal gland origin (54%) compared to abdominal non-adrenal and pelvic (16%) and thoracic (30%). Complete and near complete macroscopic resection (>95%) was achieved in 95%, with 10% of cases having conversion to open surgery. Complications were reported in 10% within 30 days of surgery. The presence of IDRF (30%) and/or tumour volume >75 ml were risk factors for conversion and complications in multivariate analysis. Overall mortality was 8.5%. CONCLUSIONS: MIS for NB showed that it is a secure approach allowing more than 95% resection. The presence of IDRFs was not an absolute contraindication for MIS. Conversion to open surgery and overall complication rates were low, however they become significant if tumour volume >75 mL. Based on these data, we propose new MIS guidelines for neuroblastic tumours.

Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas.

Paragangliomas (PGLs) are neural-crest-derived, non-epithelial neuroendocrine tumors distributed along the parasympathetic and sympathetic nerves. Head-and-neck PGLs (HNPGLs) have been recognized as nonchromaffin, nonfunctional, parasympathetic tumors. By contrast, thoracoabdominal paragangliomas and pheochromocytomas (PPGLs) are chromaffin, functional, sympathetic tumors. Although HNPGLs and PPGLs have the same histological structure, the zellballen pattern, composed of chief and sustentacular cells surrounded by abundant capillaries, the pathobiological differences between these types of PGLs remain unclarified. To determine the phenotypic features of these PGLs, we performed an immunohistochemical study using specific antibodies against choline acetyltransferase (ChAT), an enzyme involved in acetylcholine synthesis, and enzymes for the catecholamine-synthesis, tyrosine hydroxylase (TH), and dopamine beta-hydroxylase (DBH), in 34 HNPGLs from 31 patients, 12 thoracoabdominal PGLs from 12 patients, and 26 pheochromocytomas from 22 patients. The expression of ChAT, TH, and DBH was 100%, 23%, and 10% in the HNPGLs; 12%, 100%, and 100% in the pheochromocytomas; and 25%, 67%, and 100% in the thoracoabdominal PGLs, respectively. These results designate HNPGLs as acetylcholine-producing parasympathetic tumors, in contrast to PPGLs being catecholamine-producing tumors. The other most frequently used neuroendocrine markers are synaptophysin and chromogranin A expressed 100% and 80%, respectively, and synaptophysin was superior to chromogranin A in HNPGLs. This is the first report of HNPGLs being acetylcholine-producing tumors. Immunohistochemistry of ChAT could be greatly useful for pathologic diagnosis of HNPGL. Whether measurement of acetylcholine levels in the blood or urine could be a tumor marker of HNPGLs should be investigated soon.

[Giant abdominal wall desmoid tumor: a case report]. / Tumeur desmoïde géante de la paroi abdominale: à propos d'un cas.

Giant desmoid tumor has been rarely reported in the literature but it is a therapeutic challenge. We here report a case of tumor manifesting as painful abdominal mass causing a major esthetic problem. Radiological assessment allowed to determine its depth extension and limits of resection. Desmoid tumor of the abdominal wall was evoked and surgically resected, with simple outcome. This study highlights challenges in the management of this entity,due to its large size.