scholarly journals A Single Liver Metastasis from Pleural Biphasic Mesothelioma

Diagnostics ◽  
2020 ◽  
Vol 10 (8) ◽  
pp. 555
Author(s):  
Andrea Marzullo ◽  
Gabriella Serio ◽  
Federica Pezzuto ◽  
Francesco Fortarezza ◽  
Gerardo Cazzato ◽  
...  
Keyword(s):  
Liver Metastasis ◽  
Fluorescent In Situ Hybridization ◽  
Homozygous Deletion ◽  
Pleural Mesothelioma ◽  
Primary Tumors ◽  
Tumor Dissemination ◽  
Diagnostic Work ◽  
Solitary Metastases ◽  
Work Up

Virtually any malignancy can metastasize to the liver. Large solitary metastases are rare and can be difficult to distinguish from primary tumors. Malignant mesothelioma is often considered as a locally invasive cancer but tumor dissemination to extra-thoracic sites is possible, and the liver can be involved. Herein, we present a rare case of pleural mesothelioma with a solitary large liver metastasis diagnosed postmortem in a ninety-two-year-old man with 35 years of exposure to asbestos. Results of immunohistochemical staining of the pleural and liver tumor were similar, both positive for low-molecular weight keratins, calretinin, vimentin, and podoplanin, and negative for Claudin-4, TTF1, CEA, BerEP4, CK7, CK19, CK20, BAP1, Hep Par1, p40, and WT1. Fluorescent in-situ hybridization (FISH) for p16/CDKN2A was also performed and a homozygous deletion was detected in both tumors, supporting the diagnosis of mesothelioma. Reporting this case, we would like to point out that extra-thoracic dissemination from pleural mesothelioma, even if exceptional, can occur. In cases where differential diagnoses are challenging, the value of ancillary techniques and a practical approach to diagnostic work-up is of primary importance.

Small bowel neuroendocrine tumors: A critical analysis of diagnostic work-up and operative approach.

2016 ◽  
Vol 34 (4_suppl) ◽  
pp. 203-203
Author(s):  
Cecilia Grace Ethun ◽  
Lauren McLendon Postlewait ◽  
Gillian G. Baptiste ◽  
Nina Le ◽  
Mia R. McInnis ◽  
...  
Keyword(s):  
Small Bowel ◽  
Neuroendocrine Tumors ◽  
Capsule Endoscopy ◽  
Diagnostic Yield ◽  
Operative Approach ◽  
Curative Intent ◽  
Primary Tumors ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

203 Background: Small bowel neuroendocrine tumors (SB-NET) are rare, and often small and multifocal. They are difficult to localize preoperatively and can be overlooked during operative exploration. The optimal work-up and operative approach is not known. Methods: Patients who underwent resection of SB-NET at a single institution from 2000-2014 were included. Primary aim was to describe the diagnostic work-up, pathologic characteristics, and compare minimally-invasive (MIS) to open resection. Results: 93pts underwent resection for SB-NET. Median age was 61yrs; 52% were male. On presentation, 71% of pts were symptomatic and underwent an average of 3 diagnostic tests prior to resection: 45% had octreoscans, which identified the region of primary disease in 85%; 11% had small bowel enteroscopy, with a 10% diagnostic yield; 19% had capsule endoscopy, which saw a lesion in 83%, but in only 21% was the correct number of tumors seen. The diagnostic yield of capsule was 28% overall, but 82% in pts presenting with GI bleeding. 79pts (85%) underwent curative-intent resections. Median tumor size was 1.8cm and multiple primary tumors were seen in 34pts(42%), of whom 50% had > 3 tumors. 37% had metastatic and 70% had LN positive disease. 27pts underwent MIS resections vs 66 open. MIS pts were younger (56vs61yrs;p0.035) and less likely to have obstructive symptoms (4vs24%;p = 0.19) and metastatic disease at resection (19vs44%;p = 0.038). Compared to open, the MIS group had smaller (1.7vs2.4cm;p = 0.03) and fewer tumors resected (2vs5;p = 0.049), but similar LN yield (13vs12;p = 0.7). In pts without metastases undergoing curative-intent resection, MIS approach was still associated with fewer tumors removed compared to open (1.5vs4;p = 0.034). Conclusions: Capsule endoscopy appears to be better than small bowel enteroscopy at identifying occult small bowel neuroendocrine tumors, particularly when pts present with bleeding, but still may underestimate tumor burden. While MIS may be appropriate in select patients, recognizing the limitations of preoperative evaluation is critical when selecting the operative approach for these tumors, as heightened operative vigilance is often required.

Gene expression profiling (GEP) to predict the primary site of metastatic neuroendocrine tumors (NETs) presenting with an unknown primary.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 4141-4141
Author(s):  
Eugene Woltering ◽  
Lowell Brian Anthony ◽  
Anne E. Diebold ◽  
J Philip Boudreaux ◽  
Yi-Zarn Wang
Keyword(s):  
Liver Metastasis ◽  
Clinical Work ◽  
Unknown Primary ◽  
Clinical Impression ◽  
Primary Tumors ◽  
Formalin Fixed Paraffin ◽  
Gene Assay ◽  
Formalin Fixed Paraffin Embedded ◽  
Effective Diagnosis ◽  
Work Up

4141 Background: NETs often present as liver metastasis with an unknown primary. Accurate subtyping of NETs has important clinical implications for staging and site-specific targeted therapy. Traditionally, the work-up to identify a primary NET as being lung, pancreatic or gut-based can be challenging and time-consuming. Methods: GEP was performed on formalin-fixed, paraffin-embedded tumor samples using a 92-gene RT-PCR assay (CancerTYPE ID, bioTheranostics Inc.) as part of the clinical work-up for patients diagnosed with NETs and unknown primaries. Results: Results were categorized by level of agreement (Table). Of the 39 patients tested with the assay, 82% presented with liver metastasis. Assay results from those patients with adequate work-up were concordant with clinical data in 77% (23/30) of cases. Surgery was performed in 12 of these cases and 100% accuracy of the molecular assay was confirmed, resulting in 75% of primary tumors being found in the gut and 25% in the pancreas or duodenum. Assay predictions were clinically plausible but inconsistent in 13% (4/30) of cases and were discordant with histology, IHC, imaging/radiological findings, and clinical impression in 10% of the cases. Conclusions: The 92-gene assay accurately predicted tumor subtype in patients presenting with NETs and an unknown primary. These findings have clinical utility for appropriate treatment selection, particularly where targeted therapies are available (everolimus, sunitinib). We believe the 92-gene assay can be useful in clinical management, and that our approach will lead to effective diagnosis and treatment algorithms to streamline extensive pre-operative work-up. [Table: see text]

scholarly journals Homozygous deletion of CDKN2A by fluorescence in situ hybridization is prognostic in grade 4, but not grade 2 or 3, IDH-mutant astrocytomas

2020 ◽  
Vol 8 (1) ◽  
Author(s):  
Daniel F. Marker ◽  
Thomas M. Pearce
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Medical Center ◽  
Prognostic Significance ◽  
Homozygous Deletion ◽  
Cox Proportional Hazards ◽  
Histologic Grade ◽  
Lower Grade ◽  
Primary Tumors

Abstract IDH-mutant astrocytomas have a more indolent natural history and better prognosis than their IDH-wild type counterparts, but are still graded according to schemes developed prior to the recognition of this type of neoplasm as a distinct entity. Homozygous deletion of CDKN2A has been proposed as a molecular correlate of aggressive behavior in these tumors, and may be incorporated into future grading systems in an effort to improve prognostic stratification. Fluorescence in situ hybridization (FISH) is a common ancillary testing modality used to assess CDKN2A status, but the specifics of how to best interpret FISH results for prognostication of gliomas have not been clearly defined in the literature. To address this issue, we performed a retrospective analysis of prospectively collected CDKN2A FISH data from 108 primary and 43 recurrent IDH-mutant astrocytomas diagnosed between 2007–2020 at the University of Pittsburgh Medical Center. High level CDKN2A homozygous deletion was rare in primary tumors and was identified more frequently in recurrent tumors. Multivariate Cox Proportional-Hazards analysis demonstrated that histologic grade and CDKN2A status are independent predictors of survival, and the prognostic value of CDKN2A is maximized by applying a threshold of ≥ 30% of tumor cells with homozygous deletion by FISH to define a positive result. At this threshold, CDKN2A deletion significantly stratified survival of histologic grade 4 tumors, but grade 2 and 3 tumors rarely exceeded this cutoff value and did not show worse survival. Lower thresholds identified additional lower grade tumors, but were not prognostically useful. Compared to prior studies, the lack of prognostic significance of CDKN2A homozygous deletion by FISH in grade 2–3 IDH-mutant astrocytomas may reflect differences in cohort populations or technical differences between testing modalities. Definitive criteria for determining CDKN2A homozygous deletion by various methodologies will be critical if this is to be included in future grading schemes.

Malignant pleural mesothelioma with heterologous elements

2021 ◽  
pp. jclinpath-2021-207575
Author(s):  
Toshiaki Kawai ◽  
Reishi Seki ◽  
Kuniharu Miyajima ◽  
Hiroshi Nakashima ◽  
Takayuki Takeda ◽  
...  
Keyword(s):  
Median Survival ◽  
Malignant Pleural Mesothelioma ◽  
In Situ Hybridisation ◽  
Homozygous Deletion ◽  
Fish Analysis ◽  
Pleural Mesothelioma ◽  
Fluorescence In Situ Hybridisation ◽  
Surgical Operation ◽  
Methylthioadenosine Phosphorylase

AimsMalignant pleural mesothelioma with heterologous elements (such as osseous, cartilaginous or rhabdomyoblastic differentiation) is very rare. We tried to differentiate such mesothelioma cases from extraskeletal pleural osteosarcoma, which is very challenging.MethodsWe compared 10 malignant pleural mesotheliomas (three biphasic and seven sarcomatoid types) with two pleural osteosarcomas using clinicopathological and immunohistochemical methods, and also fluorescence in situ hybridisation (FISH) to examine for homozygous deletion of p16.ResultsThe median age was 72 years for mesotheliomas, and 69 years for osteosarcoma. For mesothelioma, eight cases were male and two were female. Growth was diffuse in all mesothelioma cases except case 10, where it was localised, as it was for the two osteosarcomas. Among mesothelioma cases, 80% displayed osteosarcomatous and 60% chondromatous elements, while 10% exhibited rhabdomyoblastic ones. Immunohistochemical labelling for calretinin and AE1/AE3 was present in 8/10 and 7/10 mesotheliomas, respectively, but in only one osteosarcoma. Loss of methylthioadenosine phosphorylase was seen in 5/7 mesotheliomas. FISH analysis revealed homozygous deletion of p16 in 5/8 mesothelioma and 2/2 osteosarcoma. Median survival was 6.5 months after biopsy or surgical operation in mesothelioma, and 12 months after operation in osteosarcoma.ConclusionsAlthough median survival was longer for osteosarcoma than for malignant mesothelioma, we could not differentiate mesothelioma from pleural osteosarcoma on the combined basis of clinicopathological and immunohistochemical data, and FISH analysis. However, diffuse growth was more frequent in mesothelioma than in osteosarcoma.

1796: Analysis of Chromosomal Aneuploidy in Patients with Oligoasthenoteratozoospermia(OAT) Using Fluorescent in-situ Hybridization

2007 ◽  
Vol 177 (4S) ◽  
pp. 596-597
Author(s):  
Joseph P. Alukal ◽  
Bobby B. Najari ◽  
Wilson Chuang ◽  
Lata Murthy ◽  
Monica Lopez-Perdomo ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Aneuploidy

Rapidly progressive glomerulonephritis as presenting feature of systemic lupus erythematosus in a Bangladeshi male patient: a rare case report

2020 ◽  
Vol 10 (2) ◽  
pp. 137-138
Author(s):  
Samiha Haque ◽  
Ishrat Jahan ◽  
Tufayel Ahmed Chowdhury ◽  
Muhammad Abdur Rahim ◽  
Mehruba Alam Ananna ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Venous Pressure ◽  
Rapidly Progressive Glomerulonephritis ◽  
Initial Response ◽  
Systemic Lupus ◽  
Renal Manifestation ◽  
Rare Case Report ◽  
Diagnostic Work ◽  
Work Up

Rapidly progressive glomerulonephritis is one of the most dramatic and tragic presentations of lupus nephritis (LN) or renal manifestation of systemic lupus erythematosus (SLE). A 35-year-old Bangladeshi gentleman presented with worsening oedema, scanty, high colored, frothy urine and deteriorating renal function. He had puffy face, anaemia, oedema, normal jugular venous pressure (JVP), high blood pressure (150/90 mm Hg), ascites and bilateral pleural effusions. Diagnostic work-up confirmed SLE with class IV LN. His initial response to specific therapy showed improvement Birdem Med J 2020; 10(2): 137-138

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