-
BMJ Open Gastroenterology May 2021Peritoneal or mesenteric tumours may correspond to several tumour types or tumour-like conditions, some of them being represented by histiocytosis. This rare condition...
OBJECTIVE
Peritoneal or mesenteric tumours may correspond to several tumour types or tumour-like conditions, some of them being represented by histiocytosis. This rare condition often poses diagnostic difficulties that can lead to important time delay in targeted therapies. Our aim was to describe main features of histiocytoses with mesenteric localisation that can improve the diagnostic process.
DESIGN
We performed a retrospective study on 22 patients, whose peritoneal/mesenteric biopsies were infiltrated by histiocytes.
RESULTS
Abdominal pain was the revealing symptom in 10 cases, and 19 patients underwent surgical biopsies. The diagnosis of histiocytosis was proposed by initial pathologists in 41% of patients. The other initial diagnoses were inflammation (n=7), sclerosing mesenteritis (n=4) and liposarcoma (n=1). The CD163/CD68+CD1a- histiocytes infiltrated subserosa and/or deeper adipose tissues in 16 and 14 cases, respectively. A mutation was detected within the biopsies in 11 cases, and two others were MAP2K1 mutated. The final diagnosis was histiocytosis in 18 patients, 15 of whom had Erdheim-Chester disease. The median diagnostic delay of histiocytosis was 9 months. Patients treated with BRAF or MEK inhibitors showed a partial response or a stable disease. One patient died soon after surgery, and five died by the progression of the disease.
CONCLUSION
Diagnosis of masses arising in the mesentery should be carefully explored as one of the possibilities in histiocytosis. This diagnosis is frequently missed on mesenteric biopsies. Molecular biology for detecting the mutations in BRAF or in genes of the MAP kinase pathway is a critical diagnostic tool.
Topics: Delayed Diagnosis; Histiocytosis; Humans; Neoplasms; Proto-Oncogene Proteins B-raf; Retrospective Studies
PubMed: 34020934
DOI: 10.1136/bmjgast-2021-000622 -
International Journal of Hyperthermia :... 2023This study assessed the improvement of symptoms and pregnancy outcomes in infertile patients with various types of adenomyosis who were treated with high-intensity... (Review)
Review
OBJECTIVE
This study assessed the improvement of symptoms and pregnancy outcomes in infertile patients with various types of adenomyosis who were treated with high-intensity focused ultrasound (HIFU).
MATERIALS AND METHODS
Between October 2017 and January 2022, 129 infertile patients with adenomyosis who wished to conceive were treated with HIFU. Based on the relationship between the adenomyotic lesion, the endometrium, and the subserosa of the uterus on magnetic resonance imaging, the adenomyotic lesions were divided into internal, external, intramural, and full-thickness types. Menstruation pain score, menstruation blood volume score, anti-Müllerian hormone (AMH) levels, reproductive results, pregnancy and delivery complications, and other clinical variables were compared among these four groups.
RESULTS
Patients with external adenomyosis had the greatest menstrual distress, whereas patients with internal adenomyosis had the greatest menstrual blood volume. Dysmenorrhea and heavy menstruation were significantly improved after HIFU treatment in all groups. AMH levels were not significantly different before and six months after HIFU. Of the 129 patients, 50 (38.7%) became pregnant after HIFU, and patients with internal adenomyosis had the highest pregnancy rate. Patients with adenomyotic lesions located in the posterior wall of the uterus had a higher pregnancy rate than those with lesions located in the fundus of the uterus.
CONCLUSIONS
The classification of adenomyosis is closely related to distinctions in clinical symptoms and pregnancy outcomes. Infertile patients with different types of adenomyosis could be effectively treated with HIFU. HIFU can be considered as an option for infertile patients with adenomyosis who want to maintain their fertility.
Topics: Pregnancy; Female; Humans; Adenomyosis; Pregnancy Outcome; Treatment Outcome; High-Intensity Focused Ultrasound Ablation; Infertility; Dysmenorrhea
PubMed: 37495217
DOI: 10.1080/02656736.2023.2238140 -
Romanian Journal of Morphology and... 2020Abdominal elastotic deposits are uncommon lesions that often presents as polyps. They show three histological patterns: fibroelastosis, angioelastosis, and... (Review)
Review
Abdominal elastotic deposits are uncommon lesions that often presents as polyps. They show three histological patterns: fibroelastosis, angioelastosis, and elastofibroma. We describe 23 cases including rare locations, such as mesentery, greater omentum, hernia sac, spleen, peripancreatic fat, and hypodermal fat. The age of the patients ranged from 49 to 93 years (mean, 76.8 years). Most lesions were discovered incidentally in the microscopic study. The most frequent locations were peritoneal subserosa (43.5%) and mesentery∕mesocolon∕greater omentum (39.1%). The most common pattern was fibroelastosis (69.6%) followed by angioelastosis (26.1%). We observed one case of omental elastofibroma. A review of the 14 abdominal elastofibromas described including our case revealed that the age of the patients ranged from 45 to 88 years (mean, 68.5 years). Female predominance is striking (M:F, 1:12). The most common site was the stomach (50%). The greater omentum (14.3%), small intestine (7.1%), and pancreas (7.1%) are very rare sites for this lesion. Only one case before ours has been published in the greater omentum. The size of the lesions ranged from 0.7 cm to 8 cm (mean 3.2 cm). In 36.4% of the cases located in the digestive tract, the mucosa did not show alterations. Ulcerations (36.4%) or polypoid excrescences (18.2%) were mostly observed. Six (42.9%) cases were asymptomatic and six (42.9%) cases simulated a neoplasm. Two cases were associated with elastofibromas in other locations. Differential diagnosis includes amyloidoma, elastofibrolipoma, mesenteric elastic vascular sclerosis in neuroendocrine tumors, diverticular disease elastosis, pseudoxanthoma elasticum, pulse granuloma, and digestive lesions in patients treated with D-Penicillamine.
Topics: Aged; Aged, 80 and over; Female; Gastrointestinal Tract; Humans; Intestine, Small; Mesentery; Middle Aged; Omentum; Soft Tissue Neoplasms
PubMed: 33817725
DOI: 10.47162/RJME.61.3.22 -
PloS One 2021Oncology applications of cell-free DNA analysis are often limited by the amount of circulating tumor DNA and the fraction of cell-free DNA derived from tumor cells in a... (Observational Study)
Observational Study
BACKGROUND
Oncology applications of cell-free DNA analysis are often limited by the amount of circulating tumor DNA and the fraction of cell-free DNA derived from tumor cells in a blood sample. This circulating tumor fraction varies widely between individuals and cancer types. Clinical factors that influence tumor fraction have not been completely elucidated.
METHODS AND FINDINGS
Circulating tumor fraction was determined for breast, lung, and colorectal cancer participant samples in the first substudy of the Circulating Cell-free Genome Atlas study (CCGA; NCT02889978; multi-cancer early detection test development) and was related to tumor and patient characteristics. Linear models were created to determine the influence of tumor size combined with mitotic or metabolic activity (as tumor mitotic volume or excessive lesion glycolysis, respectively), histologic type, histologic grade, and lymph node status on tumor fraction. For breast and lung cancer, tumor mitotic volume and excessive lesion glycolysis (primary lesion volume scaled by percentage positive for Ki-67 or PET standardized uptake value minus 1.0, respectively) were the only statistically significant covariates. For colorectal cancer, the surface area of tumors invading beyond the subserosa was the only significant covariate. The models were validated with cases from the second CCGA substudy and show that these clinical correlates of circulating tumor fraction can predict and explain the performance of a multi-cancer early detection test.
CONCLUSIONS
Prognostic clinical variables, including mitotic or metabolic activity and depth of invasion, were identified as correlates of circulating tumor DNA by linear models that relate clinical covariates to tumor fraction. The identified correlates indicate that faster growing tumors have higher tumor fractions. Early cancer detection from assays that analyze cell-free DNA is determined by circulating tumor fraction. Results support that early detection is particularly sensitive for faster growing, aggressive tumors with high mortality, many of which have no available screening today.
Topics: Breast Neoplasms; Circulating Tumor DNA; Colorectal Neoplasms; Female; Glycolysis; Humans; Lung Neoplasms; Mitosis; Models, Biological; Neoplasm Staging; Neoplasms; Reproducibility of Results
PubMed: 34432811
DOI: 10.1371/journal.pone.0256436 -
Frontiers in Medicine 2020Despite significant progress in the research of fibrosis in various organs, fibrosis remains a poorly understood complication of Crohn's disease (CD). We analyzed...
Despite significant progress in the research of fibrosis in various organs, fibrosis remains a poorly understood complication of Crohn's disease (CD). We analyzed pathologic features of fibrosis and inflammation in CD and compared them with the normal bowel, aiming to clarify whether fibrosis in CD pathogenetically resembles fibrosis in other organs. Resection specimens from 30 patients with CD were included. Normal bowel from resection specimens of colorectal carcinoma was used for comparison. Trichrome Masson staining, immunohistochemistry for α-smooth muscle actin, fibroblast activation protein, CD34 and erg, hybridization for TGF-β1 and analysis of selected fibrosis-related microRNAs were performed. In normal bowel, CD34-positive fibroblasts/pericytes were detected in the submucosa and subserosa, particularly around blood vessels. In CD, fibrosis prevailed in the submucosa and subserosa, together with proliferation of myofibroblasts and disappearance of CD34-positive fibroblasts/pericytes. TGF-β1 was present in the lamina propria in normal bowel and CD, and in deeper parts of the bowel wall in CD. MicroRNAs , and , which have been demonstrated to contribute to fibrosis in various organs, showed significant deregulation in CD. Distribution of fibroblasts/pericytes in the submucosa and subserosa of normal bowel, their disappearance in fibrosis in CD, together with the appearance of myofibroblasts, suggest that fibroblasts/pericytes are the most likely source of myofibroblasts in CD. Furthemore, fibrosis-related microRNAs showed deregulation in fibrotic areas. Pathogenesis of fibrosis in CD is thus comparable to fibrosis in other organs, in which myofibroblasts are the key effector cells, and pericytes have emerged as the main origin of myofibroblasts. Fibrosis in CD should be regarded as a result of (over)response of the bowel wall to the presence of inflammation in deep structures of the bowel wall, presenting another example of a common pathogenetic pathway of fibrosis development.
PubMed: 32432120
DOI: 10.3389/fmed.2020.00167 -
GE Portuguese Journal of... Nov 2023Eosinophilic gastroenteritis (EoG) is a rare condition with a yet poorly understood pathophysiology.
INTRODUCTION
Eosinophilic gastroenteritis (EoG) is a rare condition with a yet poorly understood pathophysiology.
CASE PRESENTATION
We report on a case of a 36-year-old woman with a history of atopy presenting with nausea, abdominal discomfort, weight loss, and ascites. Laboratorial analysis revealed peripheral eosinophilia and a slight elevation of inflammatory markers. The patient pursued medical assistance several times with a delay in the diagnosis. The pathway to the diagnosis of EoG with serosal infiltration and further management is presented.
DISCUSSION
Despite being diagnosed by exclusion, it is important to suspect EoG with subserosa involvement in patients presenting with the uncommon association of peripheral eosinophilia and ascites, particularly if there is a history of atopy.
PubMed: 38020819
DOI: 10.1159/000525809 -
International Journal of Surgery Case... Nov 2021Pneumatosis intestinalis (PI) is a rare but important medical condition that is defined as a collection of individual gas cysts in the submucosa and subserosa of the...
INTRODUCTION AND IMPORTANCE
Pneumatosis intestinalis (PI) is a rare but important medical condition that is defined as a collection of individual gas cysts in the submucosa and subserosa of the intestine. PI can be primary or secondary; however, this condition is secondary to underlying diseases most of the time.
CASE PRESENTATION
This article presents a 30-year-old man as a case report complaining of generalized abdominal pain and several episodes of non-bilious bloodless vomiting. The patient was admitted to the surgical service department for further investigation, and his abdominal CT scan revealed PI.
CLINICAL DISCUSSION
The patient underwent emergency laparotomy surgery due to progressive abdominal pain and peritonitis. The involved segment of the small intestine was resected, and ileo-ileal anastomosis was performed. The patient was discharged from the hospital after a week, stable, and in good medical condition.
CONCLUSION
This article intends to emphasize that although most of the patients with PI are asymptomatic or show unspecific symptoms, surgeons must take into account rare but lethal complications of PI such as intestinal volvulus. Early recognition of such complications is so crucial and can be life-saving.
PubMed: 34695667
DOI: 10.1016/j.ijscr.2021.106515 -
African Journal of Paediatric Surgery :... 2023Lipomas of the gastrointestinal tract (GIT) are generally rare. They are rare in children, and when they occur they are usually submucosa. Most of the submucosa lipomas... (Review)
Review
Lipomas of the gastrointestinal tract (GIT) are generally rare. They are rare in children, and when they occur they are usually submucosa. Most of the submucosa lipomas of GIT are present in the colon (65%-75%) and small intestine (25%). In children, intestinal lipoma is a documented cause of pathological lead point intussusception, especially when located in the submucosa. The present case report is of subserosa lipoma in the distal ileum. A 2-year-old boy presented with features of intestinal obstruction which was preceded by a painless abdominal mass. In the absence of computerised tomography scan, he was operated, and histopathology examination confirmed the mass as pedunculated fibrolipoma arising from the subserosa and causing extrinsic compression of the ileum.
Topics: Male; Humans; Child, Preschool; Intestinal Obstruction; Intussusception; Intestine, Small; Colon; Lipoma
PubMed: 37470563
DOI: 10.4103/ajps.ajps_171_21 -
Diagnostics (Basel, Switzerland) Apr 2023Pneumatosis cystoid intestinalis (PCI) is a rare condition, with a worldwide incidence of 0.3-1.2%. PCI is classified into primary (idiopathic) and secondary forms, with...
Pneumatosis cystoid intestinalis (PCI) is a rare condition, with a worldwide incidence of 0.3-1.2%. PCI is classified into primary (idiopathic) and secondary forms, with 15% and 85% of presentations, respectively. This pathology was associated with a wide variety of underlining etiologies to explain the abnormal accumulation of gas within the submucosa (69.9%), subserosa (25.5%), or both layers (4.6%). Many patients endure misdiagnosis, mistreatment, or even inadequate surgical exploration. In this case, a patient presented acute diverticulitis, after treatment, a control colonoscopy was performed that found multiple rounds and elevated lesions. To further study the subepithelial lesion (SEL), a colorectal endoscopic ultrasound (EUS) was performed with an overtube in the same procedure. For safe insertion of the curvilinear array EUS, an overtube with colonoscopy was positioned through the sigmoid as described by Cheng et al. The EUS evaluation evidenced air reverberation in the submucosal layer. The pathological analysis was consistent with PCI's diagnosis. The diagnosis of PCI is usually made by colonoscopy (51.9%), surgery (40.6%), and radiological findings (10.9%). Although the diagnosis can be made by radiological studies, a colorectal EUS and colonoscopy can be made in the same section without radiation and with high precision. As it is a rare disease, there are not enough studies to define the best approach, although colorectal EUS should be preferred for a reliable diagnosis.
PubMed: 37189527
DOI: 10.3390/diagnostics13081424