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.

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.

A RARE PRESENTATION OF GENITOURINARY TUBERCULOSIS MIMICKING ABDOMINAL TUMOR.

Genital tuberculosis is a rare and unexpected disease in European countries including Croatia. Diagnosis of female genital tract tuberculosis is challenging and is rarely pin-pointed by clinical symptoms because of their low specificity. The authors decided to present a case of genitourinary tuberculosis in a young, immunocompetent fertile woman with high clinical suspicion of abdominal tumor mass. Although considered a desease of the past, rare clinical presentation of genital tuberculosis should be expected and taken into account.

Case reports of large and symptomatic abdominal tumors in newborns: Pitfalls, difficulties in management, and surgical decision making.

BACKGROUND: Large and rapidly growing abdominal tumors may result in fatal outcomes in newborns. In some cases, a rapidly worsening clinical condition requires surgical decision-making despite the absence of a precise histological diagnosis. In these situations, there is neither a guide nor consensus. CASE: We highlight our experience with five patients with large abdominal tumors and assess the available literature for the best possible management of a rare condition. CONCLUSION: In these cases, laparostomy should be considered as a life-saving procedure. If the liver is involved and coagulopathy is present, prognosis is often compromised.

Reminder for the clinician: abdominal manifestations of type 1 neurofibromatosis are not so uncommon.

We describe the case of a woman in her 50s with abdominal pelvic masses suspected to be an ovarian lesion with metastases. At laparoscopy, it appeared as a possible abdominal location of neurofibromatosis type 1 (NF-1). A 50 cm of small bowel was resected to remove multiple nodular lesions. On histopathology, small bowel lesions (n=14) were all classified as GISTs. Clinicians should recognise and consider gastrointestinal manifestations of NF-1 in the diagnostic flow chart. Surgical treatment may resolve symptomatic cases and prevent local infiltration or malignant degeneration of abdominal neoplasms occurring in patients with NF-1.

Pediatric Abdominal Malignancies and Intravascular Extension: Contemporary Single-Center Experience.

INTRODUCTION: Inferior vena cava (IVC) thrombus is an uncommon and challenging complication of abdominal malignancies in the pediatric population, which significantly influences the treatment options and clinical outcomes in this population. METHODS: In this review, we present the presentation, treatments, interventions, and outcomes with this clinically and technically challenging oncological finding from a free-standing children's hospital from 2006 to 2017. RESULTS: Fourteen patients with IVC thrombus were identified as having an associated abdominal malignancy. The abdominal malignancies consisted of eight Wilms tumors (63% stage III and 37% stage IV), and one spindle cell sarcoma, neuroblastoma (stage III), kidney clear cell sarcoma (stage III), sclerosing epithelioid fibrosarcoma, hepatoblastoma-epithelial (stage IV), and hepatic embryonal sarcoma (stage IV). 50% of patients were male, 71% White, 29% Black, 7% Hispanic; mean age at diagnosis was 4.09 (SD 2.43) years. CT imaging identified IVC tumor thrombus for 79% of patients, US abdomen complete recorded 14%, and MRI lumbar 7%. 3Out of 14 patients, 13 patients were taken to the operating room with 12 patients undergoing concurrent tumor resection and IVC thrombectomy. Of the remaining patients, one had IVC thrombectomy via femoral cutdown by interventional radiology, and one was noted to have resolution of IVC thrombus with neoadjuvant chemotherapy. Of patients who underwent resection, one required IVC ligation, and one patient required IVC interposition vein graft reconstruction using a right IJ conduit. 60% of patients undergoing thrombectomy received neoadjuvant chemotherapy. Mean time from the diagnosis of IVC tumor thrombus to surgical thrombectomy was 46 (SD 44) days. No operative mortalities were reported. There were five major complications (hemothorax, pulmonary embolisms, seroma, and sepsis) and two minor complications (pneumonia and UTI). With exclusion of patient who underwent IVC ligation, no patients developed signs of IVC compression or recurrent thrombosis after thrombectomy. CONCLUSIONS: IVC tumor thrombus can significantly alter the clinical treatment, surgical options, and outcomes of malignant abdominal tumors. Treatment of IVC tumor thrombus included adjuvant chemotherapy, segmental IVC resection with or without reconstruction, thrombectomy with intimal stripping, or resection of the thrombus with part of the IVC wall. Evidence for standard treatment practices for IVC tumor thrombus in the setting of abdominal malignancy is lacking due to the rarity of this finding and the varied clinical presentations.

Intra-abdominal cancer risk with abdominal pain: a prospective cohort primary care study.

BACKGROUND: Quantifying cancer risk in primary care patients with abdominal pain informs diagnostic strategies. AIM: To quantify oesophagogastric, colorectal, liver, pancreatic, ovarian, uterine, kidney, and bladder cancer risks associated with newly reported abdominal pain with or without other symptoms, signs, or abnormal blood tests (that is, features) indicative of possible cancer. DESIGN AND SETTING: This was an observational prospective cohort study using Clinical Practice Research Datalink records with English cancer registry linkage. METHOD: The authors studied 125 793 patients aged ≥40 years with newly reported abdominal pain in primary care between 1 January 2009 and 31 December 2013. The 1-year cumulative incidence of cancer, and the composite 1-year cumulative incidence of cancers with shared additional features, stratified by age and sex are reported. RESULTS: With abdominal pain, overall risk was greater in men and increased with age, reaching 3.4% (95% confidence interval [CI] = 3.0 to 3.7, predominantly colorectal cancer 1.9%, 95% CI = 1.6 to 2.1) in men ≥70 years, compared with their expected incidence of 0.88% (95% CI = 0.87 to 0.89). Additional features increased cancer risk; for example, for men, colorectal or pancreatic cancer risk with abdominal pain plus diarrhoea at 60-69 years of age was 3.1% (95% CI = 1.9 to 4.9) predominantly colorectal cancer (2.2%, 95% CI = 1.2 to 3.8). CONCLUSION: Abdominal pain increases intra-abdominal cancer risk nearly fourfold in men aged ≥70 years, exceeding the 3% threshold warranting investigation. This threshold is surpassed for the >60 years age group only with additional features. These results will help direct appropriate referral and testing strategies for patients based on their demographic profile and reporting features. The authors suggest non-invasive strategies first, such as faecal immunochemical testing, with safety-netting in a shared decision-making framework.

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.

Intraabdominal Schwannomas Single-center experience.

OBJECTIVE: Intraabdominal schwannomas are rare benign tumors. In this study, we aimed to present our clinical experience in patients with intrabdominally located Schwannoma. MATERIAL-METHOD: Patients who received the diagnosis of intrabdominal schwannoma between 2011-2019 were retrospectively examined. Demographic and clinical characteristics, treatment methods, short- and long-term results and immunohistochemical characteristics of the patients were analyzed. RESULTS: A total of 7 patients were included in the study. Four patients were female and three were male. The mean age was 51.5 (31-63) years. The most common clinical presentation was abdominal pain (57.1%). Tumor location was stomach (n=2), pelvic region (n=2), rectum (n=1), retropancreas (n=1), and left juxtadrenal space (n=1). Postoperative wound infection developed in one patient and pancreatic fistula complication was seen in one patient. Re-admissions to the hospital were due to anemia and pleural effusion in two patients. The mean tumor diameter was 6 cm (0.3-13 cm). All patients were S 100 strongly positive Mitoses / 50 HPFs (high power field), <2 Ki67 <3%. The mean follow- up period was 60 months. Currently, 5 patients are being followed without disease, 1 patient survives despite recurrence and 1 patient has died due to non-cancer reasons. CONCLUSION: Intrabdominal schwannomas are rare tumors which most commonly exhibit gastrointestinal involvement. Since these tumors are mostly benign, the long-term prognosis of patients is good. Schwannoma should be kept in mind in the differential diagnosis of intrabdominal masses. Radical resections with high morbidity and mortality should be avoided if preoperative diagnosis is made. KEY WORDS: Abdominal tumor, Mesenchymal tumor, Nerve sheath tumor, Schwannoma.

Port-Site Metastasis in Gynecological Malignancies.

BACKGROUND: Minimally invasive oncologic surgery has become the standard of care in many gynecologic cancers. While laparoscopic surgery provides many benefits to patients, such as faster recovery, there are unique challenges associated with minimally invasive techniques. Port-site metastasis is a rare complication after laparoscopic oncologic surgery in management of gynecologic malignancies. METHODS: We present the case of a 44-year-old female with isolated port-site recurrence following laparoscopic radical hysterectomy with node-negative, clinical stage IB1 cervical adenocarcinoma. In addition, we provide an updated review of the literature on management and oncologic outcomes of port-site metastasis. CONCLUSION: Port-site metastasis prevention necessitates a better understanding of underlying risk factors and pathophysiology in order to optimize outcomes. Future studies are needed on risk-reducing strategies and standardization of management for port-site metastasis.

Cancer suspicion, referral to cancer patient pathway and primary care interval: a survey and register study exploring 10 different types of abdominal cancer.

BACKGROUND: Abdominal cancers represent 30% of all diagnosed cancers. Nevertheless, it is unknown if the general practitioner's (GP's) initial cancer suspicion varies for different abdominal cancer types and how this is associated with referrals to standardized cancer patient pathways (CPPs). OBJECTIVES: To explore initial cancer suspicion in GPs and to investigate how this was associated with GP referrals to CPPs and the duration of the primary care interval (PCI) in 10 different abdominal cancer types. METHODS: We conducted a cohort study on 1104 incident abdominal cancer patients diagnosed in Denmark in 2016 using a combination of survey and register-based data. Poisson regression was used to estimate associations between GP cancer suspicion, CPP referral and PCI duration. RESULTS: The GPs initially suspected cancer or other serious disease in 46-78% of cases, lowest in kidney cancer, and referred 35-65% to a CPP, lowest in oesophageal cancer. The GP's suspicion at the first presentation was strongly associated with referral to a CPP. The median (0-11 days) and 75th percentile (3-32 days) PCIs varied between the abdominal cancer types. The likelihood of a long PCI was more than 3-fold higher when the GP did not initially suspect cancer. CONCLUSION: In up to half of abdominal cancer patients, there is no initial suspicion of cancer or serious disease. CPPs were used in only one-third to two-thirds of patients, depending on cancer type. For kidney cancer, as well as several abdominal cancers, we need better diagnostic strategies to support GPs to enable effective and efficient referral.

This study investigates how often a suspicion of cancer is raised by the general practitioner (GP) at the first consultation leading up to a diagnosis for several abdominal cancer types. The study also explores how often the GPs refer these patients to a cancer patient pathway (CPP). Moreover, the length of the primary care interval is measured, that is, the interval from the first time when the patient presents with symptoms to their GP until referral to a hospital or another specialist. The results show that the GPs initially suspected cancer or other serious disease in 46­78% of 10 selected types of abdominal cancer; lowest suspicion was seen for kidney cancer, and referred 35­65% to a CPP; lowest CPP use was seen for oesophageal cancer. The median time from the first visit to the GP until referral to a hospital or another specialist was 0­11 days, depending on the cancer type. The most important factor for a prompt referral was the GP's initial cancer suspicion; this was seen independent of the diagnosed cancer type. These findings call for the development of new cancer pathways that better target the patients in whom the GP does not initially suspect cancer.

Abdominal investigations in the year preceding a diagnosis of abdominal cancer: A register-based cohort study in Denmark.

BACKGROUND: More than 11,500 abdominal cancers are yearly diagnosed in Denmark. Nevertheless, little is known about which investigations the patients undergo before a diagnosis of abdominal cancer. We aimed to investigate the frequency and timing of selected diagnostic investigations during the year preceding an abdominal cancer diagnosis. METHODS: We conducted a nationwide registry-based cohort study of patients aged ≥ 18 years who were diagnosed with a first-time abdominal cancer in 2014-2018. We included the following cancer types: oesophageal, gastric, colon, rectal, liver, gall bladder/biliary tract, pancreatic, endometrial, ovarian, kidney, and bladder cancer. Investigations of interest were transvaginal ultrasound, abdominal ultrasound, colonoscopy, gastroscopy, endoscopic retrograde cholangiopancreatography, cystoscopy, hysteroscopy, abdominal computed tomography and abdominal magnetic resonance imaging. Generalised linear models were used to calculate incidence rate ratios to enable comparison of monthly rates of investigations. RESULTS: All types of investigations were performed, with varying frequency, across the 11 abdominal cancer types in the year preceding the diagnosis. Increased use of investigations revealed that the timing of the onset differed for the different abdominal cancers, with increases seen 2-6 months before the diagnosis. Abdominal ultrasound, colonoscopy and computed tomography were the investigations with the earliest increase. CONCLUSION: In the year before a diagnosis of an abdominal cancer, some patients appear to undergo investigations typically used to detect another cancer type. This indicates that a window of opportunity exists to diagnose some abdominal cancers at an earlier time point. Future studies should explore an alternative clinical pathway to promote earlier diagnosis of abdominal cancers.

Treatment of infantile fibrosarcoma associated to an abdominal aortic aneurysm with larotrectinib: a case report.

Infantile fibrosarcoma (IFS) is a rare pediatric tumor which often presents the ETV6-NTRK3 gene fusion. NTRK3 encodes the neurotrophin-3 growth factor receptor tyrosine kinase, a druggable therapeutic target. Selective tropomyosin receptor kinase (TRK) inhibitors, such as larotrectinib, have shown efficacy and safety in the treatment of IFS. We report a case of an abdominal IFS diagnosed in a newborn associated with an aortic aneurysm that was successfully treated with larotrectinib without relevant adverse effects.

Patterns of recurrence in women with advanced and recurrent epithelial ovarian cancer treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy.

OBJECTIVE(S): To identify recurrence patterns and outcomes in women with advanced or recurrent epithelial ovarian cancer (EOC) after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). METHODS: This is an IRB-approved single-institution cohort study of women who underwent CRS+HIPEC for advanced or recurrent EOC followed in a prospective registry from 1/12/2014-3/1/2020. Recurrence locations were defined as pelvic, upper abdominal (UA) and/or extra-peritoneal (EP). Univariate analysis assessed associations between recurrence location, progression-free survival (PFS), and overall survival (OS). RESULTS: In total, 92 women with EOC underwent interval (56.5%; n=52) or recurrent CRS+HIPEC (43.5%; n=40). For interval CRS+HIPEC, recurrence locations were pelvic in 50.0% (n=15), UA in 23.3% (n=7) and EP in 56.7% (n=17); 40.0% (n=12) were EP alone. Similarly, for recurrent CRS+HIPEC, recurrence locations were pelvic (22.5%, n=9), UA (5.0%, n=2) and EP (60.0%, n=24); 66.7% (n=20) were EP alone. For both interval and recurrent CRS+HIPEC, median PFS was 10.5 vs. 13.0 months for pelvic and UA vs. EP only recurrences (p=0.02). Similarly, median OS was 29.2 months for pelvic and UA and not reached for EP only (p=0.05). For interval CRS+HIPEC, there was no difference in median PFS (10.6 vs. 11.7 months, p=0.68) and OS (27.1 vs. 24.8 months, p=0.96) for pelvic and UA vs EP alone. However, for recurrent CRS+HIPEC, pelvic and UA sites of recurrence were associated with reduced PFS (10.0 vs. 18.1 months, p=0.03) and OS (33.6 months vs. not reached, p=0.02) vs. EP only. CONCLUSIONS: In women with advanced or recurrent EOC undergoing CRS+HIPEC, one-half of patients experience their first recurrence outside of the peritoneal cavity. Providers must be aware of the risk of EP failure in patients treated with CRS+HIPEC.

Clinical application of next-generation sequencing for the management of desmoid tumors: A case report and literature review.

RATIONALE: Desmoid tumors are rare myofibroblastic neoplasms characterized by local invasiveness and high rates of recurrence, and sometimes mimic local recurrence of previously resected malignancies. Previous studies have suggested that molecular profiling may be useful for the diagnosis of the tumors and risk stratification. However, the clinical utility of next-generation sequencing (NGS) for the management of desmoid tumors has not been established. PATIENT CONCERNS: A 42-year-old man visited our clinic for routine follow-up 1 year after left upper lobe lingular segmentectomy for lung adenocarcinoma. DIAGNOSES: Chest computed tomography showed a pleural mass adherent to the thoracotomy site. Positron emission tomography revealed mildly increased metabolism with a maximal standardized uptake value of 2.7 within the tumor, suggesting local recurrence of the previous neoplasm. Exploratory thoracotomy and en bloc resection of the tumor revealed spindle cells in a massive collagenous tissue consistent with a desmoid tumor. INTERVENTIONS: NGS was performed to confirm the diagnosis and to identify any genetic alterations that might be relevant to the prognosis of this tumor. The tumor harbored an S45F mutation in CTNNB1, which has been correlated with a high recurrence rate. Therefore, we performed adjuvant radiotherapy on the resection bed at a dose of 56 Gy. OUTCOMES: The patients experienced no postoperative or radiotherapy-related complications. Periodic follow-up examinations using computed tomography were performed every 3 months, and no evidence of recurrence of either tumor was observed during the 38 months after the last surgery. LESSONS: To the best of our knowledge, this is the first case reporting the clinical application of NGS and aggressive treatment based on the genotyping results for the management of a desmoid tumor. Our case highlights the need to consider desmoid tumors among the differential diagnoses when a pleural mass is encountered at a previous thoracotomy site. More importantly, molecular profiling using NGS can be useful for the establishment of a treatment strategy for this tumor, although further investigations are required.