Extra-abdominal Sites Research Articles

Extra-abdominal and intra-abdominal FET::CREM fusion mesenchymal neoplasms: comparative clinicopathological study of 9 new cases further supporting a distinct potentially aggressive sarcoma and report of novel sites.

With the wide use of RNA sequencing technologies, the family of FET::CREB fusion mesenchymal neoplasms has expanded rapidly to include potentially aggressive neoplasms, not fitting any well established WHO entity. Recently, a group of intra-abdominal FET(EWSR1/FUS)::CREB(CREM/ATF1) fused unclassified neoplasms has been reported followed by recent recognition of an analogous extra-abdominal category of unclassified neoplasms carrying EWSR1::ATF1 fusions. We describe 9 additional tumors (5 extra-abdominal and 4 abdominal) carrying an EWSR1::CREM (n = 8) and FUS::CREM (n = 1) fusion. Patients were 7 females and 2 males aged 10 to 75years (median, 34). Extra-abdominal tumors originated in the head and neck (2 sinonasal, 1 orbital) and soft tissues (1 gluteal, 1 inguinal). Abdominal tumors involved stomach (2), mesentery (1), and kidney (1). Tumor size ranged from 3.5 to 11cm (median, 6). Treatment was radical surgery with (5) or without (2) neo/adjuvant radio/chemotherapy. Extended follow-up of 5 patients (21-52months; median, 24) showed an aggressive course in two (40%); one died of disseminated metastases 52months after several intensified chemotherapy regimens, and one was alive with progressive abdominal disease at 21months. The immunophenotype of the two subcohorts was significantly overlapping with variable expression of EMA (7 of 8), keratin AE1/AE3 (5 of 9), CD99 (4 of 7), MUC4 (2 of 8), ALK (3 of 8), synaptophysin (3 of 9), chromogranin (1 of 8), CD34 (3 of 6), CD30 (1 of 6), PAX8 (1 of 7), and inhibin (1 of 7), but no reactivity with desmin (0 of 8), S100 (0 of 8), and SOX10 (0 of 8). This series further solidifies the notion that FET::CREB fusions are not limited to the triad of angiomatoid fibrous histiocytoma, clear cell sarcoma, and malignant gastrointestinal neuroectodermal tumor, but characterize an emerging family of potentially aggressive neoplasms occurring at both intra- and extra-abdominal sites. These tumors underscore the promiscuity of the FET::CREB fusions and highlight the pivotal role of phenotype-oriented classification of these neoplasms that share the same genotype, still featuring significant biological and behavioral distinctness.

Prognostic impact of tumor location and gene expression profile in sporadic desmoid tumor

Prognostic biomarkers remain necessary in sporadic desmoid tumor (DT) because the clinical course is unpredictable. DT location along with gene expression between thoracic and abdominal wall locations was analyzed. Sporadic DT patients (GEIS Registry) diagnosed between 1982 and 2018 who underwent upfront surgery were enrolled retrospectively in this study. The primary endpoint was relapse-free survival (RFS). Additionally, the gene expression profile was analyzed in DT localized in the thoracic or abdominal wall, harboring the most frequent CTNNB1 T41A mutation. From a total of 454 DT patients, 197 patients with sporadic DT were selected. The median age was 38.2 years (1.8-89.1) with a male/female distribution of 33.5/66.5. Most of them harbored the CTNNB1 T41A mutation (71.6%), followed by S45F (17.8%) and S45P (4.1%). A significant worse median RFS was associated with males (p=0.019), tumor size ≥6cm (p=0.001), extra-abdominal DT location (p<0.001) and the presence of CTNNB1 S45F mutation (p=0.013). In the multivariate analysis, extra-abdominal DT location, CTNNB1 S45F mutation and tumor size were independent prognostic biomarkers for worse RFS. DTs harboring the CTNNB1 T41A mutation showed overexpression of DUSP1, SOCS1, EGR1, FOS, LIF, MYC, SGK1, SLC2A3, and IER3, and underexpression of BMP4, PMS2, HOXA9, and WISP1 in thoracic versus abdominal wall locations. Sporadic DT location exhibits a different prognosis in terms of RFS favoring the abdominal wall compared to extra-abdominal sites. A differential gene expression profile under the same CTNNB1 T41A mutation is observed in the abdominal wall versus the thoracic wall, mainly affecting the Wnt/β-catenin, TGFβ, IFN, and TNF pathways.

Is it possible to predict mortality in patients with high-grade blunt liver injury? A single trauma center study.

Blunt abdominal trauma constitutes a significant portion of trauma cases and is often associated with liver injury. Given that high-grade liver injuries remain life-threatening, identifying patients who will likely require more vigilant attention and care is crucial. This study aims to determine the parameters that increase mortality in patients with high-grade liver trauma. This study enrolled 38 patients with Grade III or higher liver injuries, treated by the general surgery department between 2008 and 2023. Eleven patients who died were categorized into Group 1, and 27 survivors were placed in Group 2. We evaluated their respective mechanisms of injury, imaging results, Glasgow Coma Scale scores, Base Excess, Lactate levels, pH, and Injury Severity Score findings. Receiver Operating Characteristics (ROC) analysis was performed for parameters with significant differences, and certain cutoff values were determined. The grade of liver injury and additional abdominal organ injuries were significantly higher in Group 1 (p<0.05). The difference in extra-abdominal injury sites was statistically insignificant between the groups (p>0.05). Erythrocyte suspension requirements were significantly higher in Group 1 (p<0.05). Average lactate and base deficit values were also significantly higher in Group 1 (p<0.05), while leukocyte counts were significantly lower in Group 1 (p<0.05). Base deficit, hemoglobin (Hb), lactate levels, injury severity, liver injury grade, accompanying abdominal injuries at admission, and erythrocyte suspension demands were found to be associated with increased mortality rates. Certain cutoff values for the aforementioned parameters could be established. However, further data are required to confirm these findings.

The accuracy of whole-body 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) in the detection of ovarian cancer relapse in patients with rising cancer antigen 125 (CA-125) levels

Background18F-fluorodeoxyglucose (FDG) PET/CT is a noninvasive imaging tool that has been used successfully for the diagnosis, staging, restaging, therapy monitoring, and prognostic prediction of ovarian cancer. For ovarian cancer surveillance, rising CA-125 levels raise the suspicion of recurrence despite its reported low specificity; being elevated in other benign and inflammatory conditions, and thus, confirmation is required. This work aimed to evaluate the role of 18F-FDG PET/CT in suspected ovarian cancer recurrence in patients presenting with elevated CA-125 levels.ResultsFifty female patients with suspected ovarian cancer recurrence owing to elevated CA-125 levels were included in this study. Recurrence was confirmed in 46/50 cases whether by histopathological confirmation or by serial follow-up imaging and clinical follow-up. Positive PET/CT findings were reported in 45/50 cases with 2 false-negative cases and 1 false-positive case. PET/CT examination was found to be superior to contrast-enhanced CT in the detection of peritoneal metastatic nodules and metastatic lymph nodes. According to this study, the estimated sensitivity, specificity, and overall diagnostic accuracy of PET/CT in the detection of recurrent ovarian cancer were 95.6%, 75%, and 94%, respectively.ConclusionsIn ovarian cancer surveillance, 18F-FDG PET/CT was found to be a sensitive and accurate noninvasive imaging tool that can be used in the detection of recurrent ovarian cancer in patients with elevated CA-125 levels, thus interfering with the management plan. The advantage of whole-body imaging in PET/CT allows for the detection and precise localization of recurrent or metastatic foci in abdominal and extra-abdominal sites as well.

Vascularized lymph node transfer for the treatment of lymphedema: a systematic review and meta-analysis of clinical and patient-reported outcomes

Aim: The aim of this systematic review was to summarize clinical and patient-reported outcomes (PROs) for various vascularized lymph node transfer (VLNT) donor sites and identify gaps in the literature to guide future research. Methods: A literature search of five databases was performed for articles related to VLNT that were published prior to November 2021. Studies that included clinical outcomes or PROs from at least five adult patients who received VLNTs to treat lymphedema were included. Results: Sixty-six studies met the study criteria. Most studies reported improved limb circumference/volume, reduction or discontinuation of conservative therapy, infection rate reduction, improved PROs, or postoperative imaging findings reflecting functional lymph nodes. There were significantly lower infection rates (P &lt; 0.05) and a trend towards improved PROs in patients who received intra-abdominal flaps, but overall few studies reported these outcomes. There were no significant differences in complication rates at the donor or recipient site based on VLNT donor sites, or between intra-abdominal vs. extra-abdominal VLNT donor sites, although these outcomes are not uniformly reported. Conclusion: This meta-analysis identified that intra-abdominal donor sites have the potential to reduce postoperative infectious episodes more than extra-abdominal donor sites. Though recent investigations address many understudied VLNT donor sites, larger comparative studies and a standardized methodology are needed to better characterize postoperative outcomes, which can offer more concrete evidence to guide surgical practice.

Colorectal Cancer Imaging and Management: A Surgeon's Perspective

ABSTRACT Preoperative imaging is a critical part of the multimodality treatment of colon and rectal cancer. Surgeons approach this imaging with a need to know critical details. With colon cancer, the predominant imaging modality is CT scan. CT provides information about local environment of the tumor, the global abdomen, and extra abdominal sites. With rectal cancer, MRI is the standard of preoperative imaging. MRI's high-resolution images and multiplanar evaluation of the pelvis allows accurate assessment of depth of penetration, nodal status and involvement of other organs. Understanding of relationships between tumor and mesorectum is critical to projecting therapies.

Recurrence patterns in patients with abnormal cardiophrenic lymph nodes at ovarian cancer diagnosis

ObjectivesMetastases in cardiophrenic lymph nodes noted at diagnosis of epithelial ovarian cancer confer a poor prognosis. It is unclear if cardiophrenic nodal metastases portend an atypical pattern of recurrence. We...

Management of desmoid disease

Desmoid disease results when the wnt signaling pathway in fibroblasts is constantly active. It is characterized by enlarging tumors and sclerosing sheets of tissue. In patients with familial adenomatous polyposis (FAP) this can happen in the abdomen, the abdominal wall and in extra-abdominal sites. This review describes the clinical sequelae of desmoid disease in patients with FAP and their management. While abdominal wall desmoids cause symptoms due to their increasing size and prominence, they can be resected with a recurrence rate of about 30%. Intra-abdominal desmoid disease often involves the small bowel mesentery and cannot be resected without enterectomy. Various medical options are available for their management but none are predictably successful. A staging system has been developed that predicts mortality and allows rational treatment choices. Specific complications such as obstruction of the ureter and small bowel, small bowel perforation with abscess and fistula, and hemorrhage may need surgical management. Most FAP patients with desmoid disease can live in equilibrium with the desmoids. The keys are to mitigate symptoms while avoiding toxic or dangerous therapy.

A Case Report about Small Intestinal Metastasis from Esophageal Carcinoma Combined with Bowel Obstruction

It is extremely rare for metastatic tumors derived from extra-abdominal sites to arise in the small intestine [1, 2]...

Presentation and Diagnosis of Desmoid Tumours (Fibromatosis) in the Male Breast: A Case Report

Desmoid tumours, also referred to as fibromatosis, are benign masses found in the abdominal wall. It is extremely rare to find them within extra-abdominal sites and desmoid tumours account for less than 0.2% of all breast tumours. Further, it is unusual to find these locally aggressive tumours within the male population. This case report presents the case of a man who was diagnosed with a desmoid tumour involving the left breast.

Subtypes of stage IV ovarian cancer; response to treatment and patterns of disease recurrence

BackgroundTo compare three different patterns of stage IV epithelial ovarian cancer; pleural effusion, parenchymal metastases and extra-abdominal lymph node metastases with treatment response and pattern of disease recurrence, and correlate treatment modality with outcome. MethodsRetrospective analysis of FIGO stage IV epithelial ovarian cancer diagnosed between 2008 and 2012 in three gynaecologic oncology centres in New Zealand. Results124 patients were analysed, 58 had pleural effusions, 38 parenchymal metastases, and 28 extra-abdominal lymph nodes. There was no significant difference in overall survival between these three groups. The most common site of first or any recurrence in all three groups was the abdomen with only a small number of recurrences arising in extra-abdominal sites. When looking at treatment modality, 13% had primary debulking surgery, 47% had neoadjuvant chemotherapy with interval debulking surgery, and 40% never had surgery. Overall survival was highest in patients with no residual abdominal disease after surgery. ConclusionThe site of extra-abdominal disease did not alter prognosis or pattern of disease recurrence in stage IV epithelial ovarian cancer, with most recurrences in the abdomen suggesting controlling abdominal disease with surgery may be important in all stage IV disease.

Endometriosis of Extra-Abdominal Soft Tissues: A Tertiary Center Experience.

While endometriosis, defined as the presence of endometrial tissue in extrauterine sites, is most frequently encountered within the peritoneal cavity, a small but significant proportion of cases occur at extra-abdominal soft tissue sites, particularly in relation to previous abdominal surgery. We reviewed the cases of endometriosis of soft tissue sites seen at a tertiary soft tissue center. All cases of extra-abdominal soft tissue endometriosis diagnosed at this institution over a 13-year period were reviewed, and clinical and pathologic findings were recorded. Forty-five patients had diagnoses of soft tissue endometriosis and there were 34 diagnostic biopsies and 26 surgical excision specimens. All but 1 case were abdominal wall lesions, with 1 located in the upper arm. A total of 33 patients presented with lesions in scars of previous operations (31 in Pfannenstiel incisions for Caesarean sections, presenting with a median interval of 6 years (range 1-16 years) following surgery). The lesions ranged in size from 1 to 8 cm (median 3.5 cm). One case showed decidualized stroma with trophoblast cells, while 2 had secondary adenocarcinoma arising from endometriosis. Eighteen cases were tested for β-catenin expression immunohistochemically, of which 5 showed at least focal nuclear positivity in the surrounding fibrous tissue (although not within glands or stroma). Soft tissue endometriosis is seen most commonly in surgical scars, particularly following Caesarean sections. Spontaneous endometriosis also most commonly occurs in the abdominal wall, although can occur exceptionally at unusual sites, such as extremities. Secondary changes, including carcinomas, can arise from endometriosis. The differential diagnosis of these lesions includes fibromatosis, which may be erroneously diagnosed on small, nonrepresentative core biopsy specimens.

Morphologic Spectrum of Desmoid-Type Fibromatosis.

Desmoid-type fibromatosis is a locally aggressive neoplasm composed of long sweeping fascicles of bland fibroblasts/myofibroblasts. Tumors with classic features are easy to identify, but the morphologic spectrum of this entity spans beyond the conventional histologic pattern. Since sampling of an unrecognized histologic variant may lead to misdiagnosis, especially on small needle biopsy specimens, we sought to fully characterize the morphologic spectrum of this entity. We examined 165 cases of desmoid-type fibromatosis and catalogued the morphologic patterns and percentage of those patterns identified in each case. Clinicopathologic variables, including age, sex, location, and recurrence, were analyzed and correlated with pattern frequency. Seven morphologic patterns were identified, including conventional, hyalinized/hypocellular, staghorn vessel, myxoid, keloidal, nodular fasciitis-like, and hypercellular. The mean number of patterns per case was two, but some cases harbored up to five patterns. The greatest morphologic variability was seen in the intra-abdominal lesions, with these tumors having a significantly higher percentage of the keloidal and staghorn patterns compared with extra-abdominal and abdominal wall sites. No significant correlation between patient outcome (recurrence) and presence of variant morphologic pattern was observed (P = .549). The morphologic spectrum of desmoid-type fibromatosis is deceptively broad, and awareness of the variety of histologic patterns is critical for accurate diagnosis.

Jejunal metastases from squamous cell carcinoma of the cervix presenting as an abdominal wall abscess

Metastatic tumors of the intestinal tract from extra-abdominal sites are rare. In cervical cancer, the liver, lung, and the bones are the most common distant sites of metastases. Metastasis to the small intestine is very rare. We report a rare case of metastasis of cervical squamous cell carcinoma to jejunum after a few months of chemoradiotherapy.

Myositis ossificans of thigh: Unusual mimicker

Metastatic tumors of the intestinal tract from extra-abdominal sites are rare. In cervical cancer, the liver, lung, and the bones are the most common distant sites of metastases. Metastasis to the small intestine is very rare. We report a rare case of metastasis of cervical squamous cell carcinoma to jejunum after a few months of chemoradiotherapy.

High levels of polo-like kinase 1 and phosphorylated translationally controlled tumor protein indicate poor prognosis in neuroblastomas.

Despite multimodality treatment, the long-term survival of high-risk patients with neuroblastomas is below 50%. New anti-mitotic drugs against targets, such as polo-like kinase 1 (PLK1), are being evaluated in early phase clinical trials. PLK1 phosphorylates the translationally controlled tumor protein (TCTP). We investigated the expression of PLK1 and the phosphorylated substrate, pTCTP, by immunostaining eighty-eight neuroblastomas. Digitally scanned slides were scored using image analysis software. The median PLK1 and pTCTP proliferation indices (PIs) were 4.6 and 1% respectively. There was moderate positive correlation between PLK1 and pTCTP (ρ = 0.65). The PIs for both markers were significantly higher in neuroblastomas from patients with adverse clinical (advanced-stage, high-risk group, primary abdominal compared to extra-abdominal sites), biological (MYCN amplification, 1p deletion, 17q gain) and pathological (undifferentiated or poorly differentiated status, high mitosis-karyorrhexis index, [MKI], unfavorable histology) factors. Using Cox regression models, higher-than-median PLK1 and pTCTP PIs were associated with a shorter overall survival (OS) and event-free survival (EFS) in the univariate analyses. In the multivariate analyses, a high PLK1 PI count was associated with significantly shorter OS and EFS, independent of MYCN amplification and MKI; in addition, the significantly shorter EFS was independent of the risk-group. After adjustment for MKI and MYCN amplification, and for risk-group, high pTCTP PI was also associated with significantly shorter OS. Our study shows that PLK1 provides valuable prognostic information in patients with neuroblastomas.

High proliferation index, as determined by immunohistochemical expression of Aurora kinase B and geminin, indicates poor prognosis in neuroblastomas.

Expression profile analysis of cell cycle biomarkers provides a powerful index of the proliferative state of tumors, which is linked to disease aggressiveness. We investigated the impact of the biomarkers of S-G2-M phases of cell cycle, Aurora kinase B (AURKB) and geminin (GMNN), on disease progression in neuroblastomas. The expression of AURKB and GMNN was studied by immunostaining 84 neuroblastomas. A proliferation index (PI) was obtained on scanned immunostained slides using image analysis software. The median PI was 8.5 % for AURKB- and 16.8 % for GMNN-stained slides with a high correlation between the two (r s = 0.72, P < 0.001). The PI for both markers was significantly higher in neuroblastomas from patients with unfavorable clinical (high-risk group, advanced stage, age ≥18 months at presentation, primary abdominal compared to extra-abdominal sites), biological (MYCN amplification, 1p deletion, 17q gain), and pathological (undifferentiated or poorly differentiated status, high mitosis-karyorrhexis index, [MKI], unfavorable histology) factors. Using Cox regression models, a higher-than-median AURKB and GMNN PI was associated with a significantly shorter overall survival (OS) and event-free survival (EFS) in univariable analysis. In multivariable analysis, a high AURKB PI was associated with significantly shorter OS and EFS, independent of MYCN amplification, and significantly shorter EFS, independent of MKI. High GMNN PI was also associated with significantly shorter OS and EFS after adjusting for MYCN amplification but failed to reach statistical significance after adjusting for MKI. Our study shows that in neuroblastomas, AURKB- or GMNN-based PI provides valuable prognostic information and high PI indicates aggressive disease.

English

Fibromatosis, a locally aggressive but non-metastasizing neoplastic proliferation of fibroblastic cells, commonly encountered in the abdominal wall and extra-abdominal sites but rarely occurs in the breast. Here we report a case of aggressive fibromatosis of breast, which presented as a palpable mass in the right breast of a 53-year-old female. The physical examination revealed a 12x10 cm sized ovoid mass in the right upper outer quadrant. Ultrasonogram demonstrated an 8x5 cm sized hypoechoic mass with peripheral increased vascularity on doppler imaging. Wide local excision was done and pathology revealed aggressive fibromatosis.

Erratum to “Abdominal Wall Abscess due to Acute Perforated Sigmoid Diverticulitis: A Case Report with MDCT and US Findings”

Perforation of the inflamed diverticula is a common diverticulitis complication. It usually leads to the formation of a local abscess. In some rare cases, the inflammatory process may spread towards extra-abdominal sites like the anterior or posterior abdominal wall or the thigh and form an abscess in these sites. We present the case of a 73-year-old man with a history of pain at the lower left quadrant of the abdomen for 20 days and a visible mass in this site. Ultrasonography and computed tomography revealed this mass to be an abscess of the abdominal wall which had been formed by the spread of ruptured sigmoid diverticulitis by continuity of tissue through the lower left abdominal wall. Local drainage of the abscess was performed and the patient was discharged after alleviation of symptoms and an uneventful course. We also discuss causes of abdominal wall abscesses along with the possible pathways by which an intra-abdominal abscess could spread outside the abdominal cavity.

Metastatic pattern in colorectal cancer is strongly influenced by histological subtype.

Clinical studies regarding colorectal cancer (CRC) have suggested differences in metastatic patterns between mucinous adenocarcinoma (MC), signet-ring cell carcinoma (SRCC) and the more common adenocarcinoma (AC). The current study systematically evaluates metastatic patterns of different histological subtypes in CRC patients and analyzes metastatic disease upon primary tumor localization. A nationwide retrospective review of pathological records of 5817 patients diagnosed with CRC who underwent an autopsy between 1991 and 2010 was performed. Patients were selected from the Dutch pathology registry (PALGA). To substantiate clinical relevance, metastatic patterns were compared with the prospective randomized multicenter Total Mesorectal Excision (TME) trial, which investigated efficacy of preoperative radiotherapy in rectal cancer patients. In the autopsy study, 1675 patients had metastatic disease. MC and SRCC patients more frequently had metastatic disease (33.9% and 61.2% versus 27.6%; P < 0.0001) and had metastases at multiple sites more often compared with AC patients (58.6% and 70.7% versus 49.9%; P = 0.001). AC predominantly metastasized to the liver, and MC and SRCC more frequently had peritoneal metastases. Metastatic patterns were also related to the primary tumor site, with a high rate of abdominal metastases in colon cancer patients, whereas rectal cancer patients more often had metastases at extra-abdominal sites. Results from the TME trial confirmed findings in rectal cancer patients from the autopsy study. There are profound differences in metastatic patterns between histological subtypes and the localization of the primary tumor in CRC. Findings from this study should encourage to take these factors into account for follow-up strategies and future studies.