Primary leptomeningeal low-grade Schwann cell neoplasm

2021 ◽  
Vol 14 (11) ◽  
pp. e244440
Author(s):  
Wilson Vallat ◽  
Siby Antony ◽  
Sandy Patel ◽  
Catriona McLean

We discuss an extremely rare case of low-grade Schwann cell leptomeningeal neoplasm with no evident intradural primary, presenting with rapid neurological decline leading to death reflecting the aggressive biological behaviour of this entity despite its low-grade morphology. Notwithstanding extensive investigations, the diagnosis was only established on autopsy as clinical presentation is non-specific making diagnosis challenging. This condition could be considered in patients presenting with leptomeningeal disease if initial workup of more common causes is non-revealing.

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii375-iii376
Author(s):  
Uri Tabori ◽  
Scott Ryall ◽  
Michal Zapotocky ◽  
Julie Bennett ◽  
Liana Nobre ◽  
...  

Abstract Pediatric low-grade gliomas (pLGG) are primarily driven by genetic alterations in the RAS/MAPK pathway, most commonly involving BRAF of NF1. Despite their molecular convergence, pLGG often show unexplained variability in their clinical outcome. To address this, we molecularly characterized a cohort of >1,000 clinically annotated pLGG. 84% of cases harbored a detectable driver mutation. The remaining 16% of patients nonetheless showed RAS/MAPK pathway up-regulation at the RNA level. The clinical presentation and outcome of pLGG appeared highly variable and linked to the alteration type: re-arrangement or SNV. Re-arrangement-driven tumors were diagnosed at a younger age (6.6 versus 10.9 years, p<0.0001), enriched for WHO grade I histology (88% versus 66%, p<0.0001), infrequently progressed (27% versus 46%, p<0.0001), and rarely resulted in death (3 versus 13%, p<0.0001) as compared to SNV-driven tumors. These included the rarest molecular drivers of pLGG, for which we now have the clinicopathologic features of including MYB, MYBL1, FGFR2 fusions, FGFR1-TACC1, FGFR1 SNVs, IDH1 p.R132H, and H3.3 p.K27M. Utilizing this information, we suggest novel risk categories of pLGG that effectively predicted patient outcome. Low-risk tumors progressed infrequently and rarely succumbed to their disease (10-year PFS of 71% and OS of 98%). Intermediate-risk pLGG had a 10-year PFS and OS of 35% and 90%, respectively. High risk pLGG almost invariably progressed (10-year PFS of 0%) and these patients often succumbed to their disease (10-year OS of 41%). These data highlight the biological and clinical differences between pLGG subtypes and offers molecular based risk stratification to these cancers.


2021 ◽  
Vol 14 (7) ◽  
pp. e235488
Author(s):  
Ashley DiPasquale ◽  
Lashan Peiris ◽  
Svetlana Silverman

Cystic hypersecretory ductal carcinoma (CHDC) is a rare distinctive variant of ductal carcinoma that behaves in a low-grade fashion. This rare form of breast malignancy has only been reported a handful of times in the surgical literature. This article outlines the clinical presentation, workup and management of a 43-year-old woman who presented with a bilobed cystic mass of the right breast diagnosed as CHDC.


2014 ◽  
Vol 15 (2) ◽  
pp. 131-134
Author(s):  
Oliur Rahman ◽  
Anwarul Kabir ◽  
Prodip Kumar Biswas ◽  
AMM Shoriful Islam ◽  
AB Siddik ◽  
...  

Background: Tuberculosis is common in our country. It commonly affects the lungs but in up to one third of the cases involve other organs. Abdominal tuberculosis is one of the important extrapulmonary tuberculosis.It has varied presentation, frequently mimicking other common and rare diseases. Materials and Methods:It is a prospective observational study done to see the clinical presentation and treatment outcome of abdominal tuberculosis in medicine, surgery and gastroenterology department Sylhet M A G Osmani Medical College Hospital during Jan 2008-Dec2008. Sample was collected purposively. All patients were undergone detailed history, clinical examination, relevant investigation and follow up till the end of six months anti tubercular chemotherapy.Data recorded in predesigned record form. Statistical analysis was done with SPSS software. All data presented as percentage or mean. Result: From the 50 cases of abdominal TB, 26 (52%) were male and 24 (48%) were female. Male and female ratio was 1.04:1. Here most of the patients were in the age of 21-30 years and mean age was 29.3 years,majority of them were from poor socioeconomic status(18%) had associated pulmonary tuberculosis.The common presentation exhibited by the patients were weight loss (100%), low grade fever (88%), abdominal pain (86%), bowel disturbance (84%), anorexia (80%), nausea and vomiting (70%), abdominal distension (46%), , ascites (42%).Most of the patients were anaemic with raised ESR.Ultrasonography revealed ascites,abdominal lymphadenopathy and thick walled bowel. Colonoscopy found nodularity and ulceration with narrowing. Ascitic fluid was exudative with predominant lymphocyte count. Laparoscopy and laparotomy revealed tubercle on the intestine and the mesentery with thickening and bowel stricture. All the biopsy reports were consistent with tuberculosis. Site of involvement in decreasing frequency were ileocaecal (44%), peritoneal (16%), abdominal lymph node (8%), ascending colon (8%), small bowel (6%),transverse colon (4%), sigmoid colon (2%), rectum (2%), gastric (2%) and duodenal (2%) but multiple site in 6%.The treatment was given as per the WHO guidelines with category I drugs and found- 86% cured with anti TB alone, 4% needed surgery for intestinal obstruction along with anti TB, and 10% drop out from follow up.Conclusion:The clinical presentations of abdominal TB appear not specific for the condition. Thus, careful approach and supportive results are required in order to issue the final diagnosis. If diagnosed early, it can be treated successfully with the conventional anti-TB drugs. DOI: http://dx.doi.org/10.3329/jom.v15i2.20686 J MEDICINE 2014; 15 : 131-134


Author(s):  
Dmitry José De Santana Sarmento ◽  
Stephanie Kenig Viveiros ◽  
Nelise Lascane ◽  
Luiz Alexandre Thomaz ◽  
Mario Cláudio Mautoni ◽  
...  

1995 ◽  
Vol 109 (5) ◽  
pp. 466-468 ◽  
Author(s):  
Bonnie L. Kemp ◽  
John G. Batsakis ◽  
Adel K. El-Naggar ◽  
Sophia N. Kotliar ◽  
Mario A. Luna

AbstractThe major salivary glands are considered to rarely be the sites of primary terminal duct adenocarcinomas, a neoplasm with a considerable predilection for origin from intraoral minor salivary glands. We present a clinicopathological study of 22 terminal duct adenocarcinomas of the parotid gland, the largest single series to date. A comparison between the parotid neoplasms and over 200 minor salivary gland terminal duct adenocarcinomas indicates there is little difference in biological behaviour and confirms the low-grade quality of the carcinomas, regardless of site of origin.


2016 ◽  
Vol 45 (7) ◽  
pp. 997-1006 ◽  
Author(s):  
Richard Boyle ◽  
Bruno Giuffre ◽  
S. Fiona Bonar
Keyword(s):  

2018 ◽  
Vol 12 ◽  
pp. 24-28
Author(s):  
Yasuaki Tsuchida ◽  
Yoshitane Tsukamoto ◽  
Hiroyuki Futani ◽  
Shunsuke Kumanishi ◽  
Takahiro Watanabe ◽  
...  

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