Unusual Mesenchymal Tumors of the Lower Gastrointestinal Tract: When You Hear Hoofbeats in the Night, Do Not Forget the Zebras

Pathobiology ◽  
2021 ◽  
pp. 1-9
Author(s):  
Marco Barella ◽  
Gianluca Lopez ◽  
Stefano Ferrero ◽  
Maurizio Vecchi ◽  
Paolo Cantù ◽  
...  

<b><i>Introduction:</i></b> Little information about clinical presentation of mesenchymal tumors of the lower gastrointestinal (GI) tract due to their extreme heterogeneity is available for clinical management. Usually, small solitary asymptomatic polyps are accidently found during a screening colonoscopy performed for hematochezia, abdominal pain, constipation, diarrhea, and bowel obstruction. In this case series, we illustrate our experience with mesenchymal tumors of the lower GI tract, which are a group of unusual and quite challenging lesions. <b><i>Case Presentation:</i></b> We retrospectively collected mesenchymal tumors of the lower GI tract in our institution (Fondazione IRCSS Ca’ Granda – Ospedale Maggiore Policlinico di Milano) during the last 10 years. We reviewed the histological slides, and, when necessary, we performed immunohistochemical analyses to better characterize the tumors. A total of 99 cases were identified: 45 GISTs, 42 lipomas, 4 leiomyomas, 3 Kaposi sarcomas, 1 schwannoma, 1 ganglioneuroma, 1 hemangioma, 1 inflammatory fibroid polyp, and 1 challenging case of spindle cell melanoma. We focused on the most rare entities excluding therefore all GISTs and lipomas from re-evaluation. <b><i>Conclusion:</i></b> Mesenchymal tumors of the lower GI tract represent a highly heterogeneous group of lesions encompassing GISTs, lipomas, smooth muscle tumors (leiomyoma and leiomyosarcoma), GI schwannomas, inflammatory fibroid polyps, solitary fibrous tumors, and other unusual spindle cell tumors. Immunohistochemistry and, in selected cases, molecular biology remain a useful tool which, in addition to a meticulous study of the morphology, helps the pathologist in the tangled jungle of differential diagnosis.

2019 ◽  
Vol 47 (5) ◽  
pp. 577-584
Author(s):  
Kyathanahalli S. Janardhan ◽  
Priyanka Venkannagari ◽  
Heather Jensen ◽  
Mark J. Hoenerhoff ◽  
Ronald A. Herbert ◽  
...  

The majority of the tumors in the gastrointestinal (GI) tract of rats and mice, with spindle cell morphology, are diagnosed as smooth muscle tumors (SMTs). Similarly, several decades ago human GI tumors with spindle cell morphology were also diagnosed as SMTs. However, later investigations identified most of these tumors in humans as gastrointestinal stromal tumors (GISTs). The GISTs are considered to arise from the interstitial cells of Cajal located throughout the GI tract. Positive immunohistochemical staining with CKIT antibody is a well-accepted diagnostic marker for GISTs in humans. Since there is a considerable overlap between the histomorphology of SMTs and GISTs, it is not possible to distinguish them on hematoxylin and eosin stained sections. As a result, GISTs are not routinely diagnosed in toxicological studies. The current study was designed to evaluate the tumors diagnosed as leiomyoma or leiomyosarcoma in the National Toxicology Program’s 2-year bioassays using CKIT, smooth muscle actin, and desmin immunohistochemistry. The results demonstrate that most of the mouse SMTs diagnosed as leiomyoma or leiomyosarcoma are likely GISTs, whereas in rats the tumors are likely SMTs and not GISTs.


2011 ◽  
Vol 2011 ◽  
pp. 1-10 ◽  
Author(s):  
Thomas P. Plesec

Gastrointestinal (GI) mesenchymal tumors other than gastrointestinal stromal tumor (GIST) are rare neoplasms, but they often enter the differential diagnosis of more common GI lesions. Some of these mesenchymal tumors in the GI tract have well understood molecular pathologic aspects, including desmoid tumors, inflammatory myofibroblastic tumor (IMT), clear cell sarcoma (CCS), inflammatory fibroid polyp (IFP), and synovial sarcoma (SS). Molecular pathology is fast becoming a mainstream focus in laboratories because it aids in the precise classification of tumors, may be prognostic, and may help predict response to therapy. The following review is not intended as an exhaustive summary of all mesenchymal tumors that have been reported to involve the GI tract, but instead will highlight the current knowledge of the most important non-GIST GI mesenchymal neoplasms, focusing on those tumors with well-characterized molecular pathology and how the molecular pathologic features impact current diagnostic, therapeutic, and prognostic standards.


2017 ◽  
Vol 11 (2) ◽  
pp. 434-439 ◽  
Author(s):  
Emmanuel Ofori ◽  
Mel Ona ◽  
Daryl Ramai ◽  
Tiangui Huang ◽  
Philip Xiao ◽  
...  

Ganglioneuromas are very rare clinical entities, and their occurrence in the large bowel lays further emphasis on their rarity. Ganglioneuromas are benign tumors of undifferentiated neural crest cells. Their clinical presentation is mostly asymptomatic, and if any symptoms are present at all, they are usually nonspecific, with excellent prognosis. We report an asymptomatic, 65-year-old male with a solitary ascending colonic polyp found on screening colonoscopy. Histology revealed benign polypoid spindle-cell proliferation as well as S100 reactivity, consistent with ganglioneuroma. We report on the clinical presentation and discuss the origin, epidemiology, treatment, and management of this lesion.


2014 ◽  
Vol 05 (03) ◽  
pp. 106-109
Author(s):  
Chetan Mittal ◽  
Aakanksha Mittal ◽  
Shahzaib Nabi ◽  
Wadiha Chacra ◽  
Veena Shah ◽  
...  

Abstract Introduction: Pyogenic granuloma (PG) or granuloma pyogenicum is essentially a capillary hemangioma on the skin or a mucosal surface which shows an exophytic growth pattern and has a lobulated appearance. The most common sites are skin (40%) and mucosal surfaces (predominantly oral cavity, 60%). We intend to report all available cases of PG of gastrointestinal (GI) tract, diagnosed at the Henry Ford hospital, a tertiary referral center. Patients and Methods: A retrospective review of pathological database was performed on all GI biopsies in the last 10 years using diagnostic codes and pathology codes searching for PG of the GI tract. Results: A total of 23 cases of pathologically diagnosed PG was diagnosed over a 10 year period. The median age of patients was 64 with almost equal gender distribution (47.8% were males, and 52.2% were females). The most common location of PG was sigmoid colon (65.2%), esophagus (17.4%) and transverse colon (13%). PG presented as a polyp in 16 patients (69.6%). The most common indication for endoscopy in these cases was screening colonoscopy (30.4% cases). Discussion: PG of GI tract is rare. To date, only about 15–20 cases have been reported in the literature and most cases have been reported from Japan and Korea. This is the largest case series of this rare pathological lesion of the GI tract. Most cases of PG were diagnosed on an endoscopy done for an unrelated reason in our series. Hence, most cases were asymptomatic, unlike previously reported cases which were mostly associated with GI bleeding.


2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Matthew M. Kwok ◽  
Muthukumar Subramaniyan ◽  
Sor Way Chan

Introduction. Solitary fibrous tumours (SFT) of the parotid gland are a very rare group of spindle-cell tumours with only 28 cases reported in the literature. This review aims to report an additional case of parotid SFT and provide a review of all reported cases of this rare condition.Case Presentation. A 26-year-old male presented a 3 cm well-demarcated, slowly enlarging mass which was completely excised, revealing histological and immunohistochemical features of SFT.Discussion. Reviews of all reported cases suggest that histology and immunohistochemistry are paramount in the diagnosis of SFT. These features, along with clinical presentation and management of this rare condition, will be discussed.


2019 ◽  
Vol 24 (5) ◽  
pp. 549-557
Author(s):  
Malia McAvoy ◽  
Heather J. McCrea ◽  
Vamsidhar Chavakula ◽  
Hoon Choi ◽  
Wenya Linda Bi ◽  
...  

OBJECTIVEFew studies describe long-term functional outcomes of pediatric patients who have undergone lumbar microdiscectomy (LMD) because of the rarity of pediatric disc herniation and the short follow-up periods. The authors analyzed risk factors, clinical presentation, complications, and functional outcomes of a single-institution series of LMD patients over a 19-year period.METHODSA retrospective case series was conducted of pediatric LMD patients at a large pediatric academic hospital from 1998 to 2017. The authors examined premorbid risk factors, clinical presentation, physical examination findings, type and duration of conservative management, indications for surgical intervention, complications, and postoperative outcomes.RESULTSOver the 19-year study period, 199 patients underwent LMD at the authors’ institution. The mean age at presentation was 16.0 years (range 12–18 years), and 55.8% were female. Of these patients, 70.9% participated in competitive sports, and among those who did not play sports, 65.0% had a body mass index greater than 25 kg/m2. Prior to surgery, conservative management had failed in 98.0% of the patients. Only 3 patients (1.5%) presented with cauda equina syndrome requiring emergent microdiscectomy. Complications included 4 cases of postoperative CSF leak (2.0%), 1 case of a noted intraoperative CSF leak, and 3 cases of wound infection (1.5%). At the first postoperative follow-up appointment, minimal or no pain was reported by 93.3% of patients. The mean time to return to sports was 9.8 weeks. During a mean follow-up duration of 8.2 years, 72.9% of patients did not present again after routine postoperative appointments. The total risk of reoperation was a rate of 7.5% (3.5% of patients underwent reoperation for the same level; 4.5% underwent adjacent-level decompression, and one patient [0.5%] ultimately underwent a fusion).CONCLUSIONSMicrodiscectomy is a safe and effective treatment for long-term relief of pain and return to daily activities among pediatric patients with symptomatic lumbar disc disease in whom conservative management has failed.


Author(s):  
Nevine El Nahas ◽  
Tamer Roushdy ◽  
Eman Hamid ◽  
Sherien Farag ◽  
Hossam Shokri ◽  
...  

Abstract Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel virus that has been reported to have various neurological manifestations. Cerebrovascular disorders have been encountered as a coronavirus disease 2019 (COVID-19) presentation in our center during the pandemic. Case presentation We are presenting 10 cases with cerebrovascular manifestations after having COVID-19 few days prior to stroke. Conclusion Cerebrovascular manifestations can occur in association with COVID-19 and may have significant implications on prognosis and management.


Author(s):  
Josee Paradis ◽  
Agnieszka Dzioba ◽  
Hamdy El-Hakim ◽  
Paul Hong ◽  
Frederick K. Kozak ◽  
...  

Abstract Background To evaluate the clinical presentation of choanal atresia (CA) in tertiary centers across Canada. Methods Multi-centre case series involving six tertiary care pediatric hospitals across Canada. Retrospective chart review of patients born between 1980 and 2010 diagnosed with CA at a participating center. Results The health charts of 215 patients (59.6% female) with CA were reviewed and included in this study. The mean age of patients at time of CA presentation was 0.4 months (range 0.1 to 7.2 months) for bilateral CA and 37.8 months (range 0.1 to 164.1 months) for unilateral cases. The most common presenting symptoms for bilateral CA in decreasing order were respiratory distress (96.4%), feeding difficulties (68.2%), and rhinorrhea (65.5%), and for unilateral cases in decreasing order were rhinorrhea (92.0%), feeding difficulties (24.7%), and respiratory distress (18.0%). For the majority of patients (73.2%), the obstruction comprised mixed bony and membranous tissue, with only 10.5% presenting with a purely membranous obstruction. Familial history of CA was confirmed in only 3.3% of cases. One half of patients with CA presented with one or more associated anomalies and 30.6% had a syndrome. Conclusions The present investigation is the first national multi-institutional study evaluating the clinical presentation of CA over three decades. The present cohort of CA patients presented with a breadth of co-morbidities with highly variable presentations, with bilateral cases being more severely affected than unilateral cases. Further investigation into hereditary linkages to CA development is warranted. Graphical abstract


2021 ◽  
Vol 10 (11) ◽  
pp. 2439
Author(s):  
Jerome R. Lechien ◽  
Stéphane Hans ◽  
Francois Bobin ◽  
Christian Calvo-Henriquez ◽  
Sven Saussez ◽  
...  

Background: Laryngopharyngeal reflux (LPR) is a common disease in otolaryngology characterized by an inflammatory reaction of the mucosa of the upper aerodigestive tract caused by digestive refluxate enzymes. LPR has been identified as the etiological or favoring factor of laryngeal, oral, sinonasal, or otological diseases. In this case series, we reported the atypical clinical presentation of LPR in patients presenting in our clinic with reflux. Methods: A retrospective medical chart review of 351 patients with LPR treated in the European Reflux Clinic in Brussels, Poitiers and Paris was performed. In order to be included, patients had to report an atypical clinical presentation of LPR, consisting of symptoms or findings that are not described in the reflux symptom score and reflux sign assessment. The LPR diagnosis was confirmed with a 24 h hypopharyngeal-esophageal impedance pH study, and patients were treated with a combination of diet, proton pump inhibitors, and alginates. The atypical symptoms or findings had to be resolved from pre- to posttreatment. Results: From 2017 to 2021, 21 patients with atypical LPR were treated in our center. The clinical presentation consisted of recurrent aphthosis or burning mouth (N = 9), recurrent burps and abdominal disorders (N = 2), posterior nasal obstruction (N = 2), recurrent acute suppurative otitis media (N = 2), severe vocal fold dysplasia (N = 2), and recurrent acute rhinopharyngitis (N = 1), tearing (N = 1), aspirations (N = 1), or tracheobronchitis (N = 1). Abnormal upper aerodigestive tract reflux events were identified in all of these patients. Atypical clinical findings resolved and did not recur after an adequate antireflux treatment. Conclusion: LPR may present with various clinical presentations, including mouth, eye, tracheobronchial, nasal, or laryngeal findings, which may all regress with adequate treatment. Future studies are needed to better specify the relationship between LPR and these atypical findings through analyses identifying gastroduodenal enzymes in the inflamed tissue.


2021 ◽  
pp. 205141582110328
Author(s):  
Abisola Oliyide ◽  
Ijeoma Chibuzo ◽  
Magda Kujawa

Thrombosed urethral prolapse is a rare clinical condition. In this context, we describe our experience and compare our findings with the literature, following presentation of five consecutive cases over 2 years. This will hopefully improve awareness and appropriateness of specialty referrals as a correct diagnosis is rarely established prior to the patient being seen by a urologist. We also wish to highlight a case presentation of thrombosed urethral prolapse outside the bimodal age distribution which has been recorded in the literature. Level of Evidence: Level 4


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