scholarly journals Pancreatic Solid Pseudopapillary Neoplasm: Key Pathologic and Genetic Features

2020 ◽  
Vol 144 (7) ◽  
pp. 829-837 ◽  
Author(s):  
Stefano La Rosa ◽  
Massimo Bongiovanni
Keyword(s):  
Good Prognosis ◽  
Low Grade ◽  
Solid Pseudopapillary Neoplasm ◽  
Prognostic Features ◽  
Molecular Alterations ◽  
Immunohistochemical Markers ◽  
Molecular Features ◽  
Pubmed Database ◽  
Genetic Features ◽  
Solid Pseudopapillary Neoplasms

Context.— Solid pseudopapillary neoplasm of the pancreas is a low-grade malignant tumor generally associated with a good prognosis. Solid pseudopapillary neoplasms show peculiar morphologic features, but sometimes the differential diagnosis with other pancreatic neoplasms (ie, pancreatic neuroendocrine tumors) can be a challenging task, especially in cytologic or biopsy specimens. In these cases immunohistochemistry is a useful tool, but the diagnostic utility of several proposed immunohistochemical markers is questionable. In recent years, despite several attempts to characterize the pathogenetic, molecular, and prognostic features of solid pseudopapillary neoplasms, they still remain unclear. Objective.— To give the reader a comprehensive update on this entity. Data Sources.— The PubMed database (US National Library of Medicine) was searched using the following string: pseudopapillary tumor [AND/OR] neoplasm [AND/OR] pancreas. All articles written in English were included. In addition, because a heterogeneous terminology has been used in the past to define solid pseudopapillary neoplasms, the reference lists of each paper selected in the PubMed database were also reviewed. Conclusions.— This review gives a comprehensive update on the pathologic, clinical, and molecular features of solid pseudopapillary neoplasms, particularly addressing issues and challenges related to diagnosis. In addition, we have tried to correlate the molecular alterations with the morphologic and clinical features.

scholarly journals Transcriptional Characterization of Stage I Epithelial Ovarian Cancer: A Multicentric Study

Cells ◽  
2019 ◽  
Vol 8 (12) ◽  
pp. 1554
Author(s):  
Enrica Calura ◽  
Matteo Ciciani ◽  
Andrea Sambugaro ◽  
Lara Paracchini ◽  
Giuseppe Benvenuto ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Epithelial Ovarian Cancer ◽  
Stage I ◽  
Molecular Heterogeneity ◽  
Low Grade ◽  
Multicentric Study ◽  
Molecular Alterations ◽  
Molecular Features ◽  
Signaling Axis ◽  
Tumor Biopsies

Stage I epithelial ovarian cancer (EOC) represents about 10% of all EOCs. It is characterized by a complex histopathological and molecular heterogeneity, and it is composed of five main histological subtypes (mucinous, endometrioid, clear cell and high, and low grade serous), which have peculiar genetic, molecular, and clinical characteristics. As it occurs less frequently than advanced-stage EOC, its molecular features have not been thoroughly investigated. In this study, using in silico approaches and gene expression data, on a multicentric cohort composed of 208 snap-frozen tumor biopsies, we explored the subtype-specific molecular alterations that regulate tumor aggressiveness in stage I EOC. We found that single genes rather than pathways are responsible for histotype specificities and that a cAMP-PKA-CREB1 signaling axis seems to play a central role in histotype differentiation. Moreover, our results indicate that immune response seems to be, at least in part, involved in histotype differences, as a higher immune-reactive behavior of serous and mucinous samples was observed with respect to other histotypes.

Solid-Pseudopapillary Neoplasm: A Pancreatic Enigma

2009 ◽  
Vol 133 (12) ◽  
pp. 1989-1993 ◽  
Author(s):  
Zaher I. Chakhachiro ◽  
Ghazi Zaatari
Keyword(s):  
Surgical Excision ◽  
Needle Aspiration ◽  
Low Grade ◽  
Cell Of Origin ◽  
Solid Pseudopapillary Neoplasm ◽  
Molecular Features ◽  
Complete Surgical Excision ◽  
Histopathologic Evaluation ◽  
Almost All

Abstract Solid-pseudopapillary neoplasm of the pancreas is a relatively uncommon tumor. It typically affects young women, has nonspecific clinical and radiologic manifestations, and can be readily diagnosed by ultrasound-guided fine-needle aspiration and histopathologic evaluation. Histologic features characteristically show loosely cohesive, relatively uniform polygonal cells surrounding delicate capillary-sized blood vessels. Other features include cytoplasmic vacuolization, finely stippled chromatin, nuclear grooving, eosinophilic hyaline globules, and degenerative changes. Almost all solid-pseudopapillary neoplasms harbor mutations in the β-catenin gene. They stain with β-catenin, CD10, and focally with neuroendocrine markers. Although previously considered benign, this tumor is currently considered a low-grade malignant epithelial neoplasm with low metastatic rate and high overall survival. Most patients are cured by complete surgical excision. Despite the characterization of the morphologic and molecular features of this enigmatic neoplasm, more work is needed to uncover its cell of origin and true histogenesis.

Mucinous Adenomyomatous Pulmonary Hamartoma: Clinicopathologic, Immunohistochemical, and Molecular Features of 6 Cases

2020 ◽  
pp. 106689692094501
Author(s):  
Giulio Rossi ◽  
Alberto Cavazza ◽  
Camilla Comin ◽  
Genny Jocollé ◽  
Agita Jukna ◽  
...  
Keyword(s):  
Smooth Muscle ◽  
Frozen Section ◽  
Gene Mutations ◽  
Low Grade ◽  
Basal Cells ◽  
Molecular Alterations ◽  
Molecular Features ◽  
Small Series ◽  
Asymptomatic Patients ◽  
Pulmonary Hamartoma

Pulmonary hamartoma (PH) may show various combinations of mesenchymal tissues with entrapment of respiratory epithelium. An uncommon variant of PH prevalently consisting of smooth muscle with mucinous proliferation has been reported in literature under several definitions as sporadic reports. We collected a series of 6 leiomyomatous PH associated with mucinous growth from consultation files (3 cases) and multicentric revision of archival files among 128 consecutive surgically resected PH. The lesions have a prevalence for male gender (5:1) and lower lobes (5:1), with a mean age at diagnosis of 61 years. All cases were incidentally disclosed in asymptomatic patients and had an indolent behavior. At histology, 2 cases consisted uniquely of smooth muscle and 4 also showed mature adipose tissue. The mucinous proliferation consisted of a monotonous growth of columnar cells lacking p63-positive basal cells and expressing pan-CKs, MUC5A, and CK7, but negative with TTF-1, napsin, MUC1, MUC2, MUC6, CK20, and CDX2. Smooth muscle was negative with hormonal receptors. Molecular analysis using a multiplex gene panel did not reveal gene mutations, while ALK, BRAF, and ROS1 were negative. In conclusion, we describe a small series of uncommon PH with prevalent leiomyomatous mesenchymal component associated with a mucinous growth (mucinous adenomyomatous hamartoma). Despite the lack of basal cells coating mucinous proliferation and irregular architecture, the favorable outcome and lack of molecular alterations most likely lay for a benign/low-grade tumor. Pathologists should be aware of this unusual occurrence to prevent a diagnosis of overt malignancy, particularly in frozen section, small biopsy, and cytology.

scholarly journals Clinicopathological and immunohistochemical study of 29 cases of solid-pseudopapillary neoplasms of the pancreas in patients under 20 years of age along with detailed review of literature

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Nasir Ud Din ◽  
Shabina Rahim ◽  
Jamshid Abdul-Ghafar ◽  
Arsalan Ahmed ◽  
Zubair Ahmad
Keyword(s):  
Progesterone Receptor ◽  
Malignant Tumors ◽  
Age Groups ◽  
Low Grade ◽  
Beta Catenin ◽  
Review Of Literature ◽  
Detailed Review ◽  
Prognostic Features ◽  
Solid Pseudopapillary Neoplasms

Abstract Background Pancreatic Solid Pseudopapillary Neoplasms (SPNs) are rare low-grade malignant tumors with a marked preponderance for young females. Objective was to describe the morphology, differential diagnosis, and prognosis of SPNs in patients under 20 years of age and present a detailed review of literature. Methods A total of 29 cases in patients under 20 years of age reported as SPN during the period January 2014 to December 2019, were included in the study. These included 19 resection specimens, 4 incision biopsies and 6 cases received as blocks for second opinion. Hematoxylin and eosin (H&E) slides as well as immunohistochemistry (IHC) slides of all cases were retrieved and reviewed by the authors. TFE3 and Progesterone Receptor were performed retrospectively. Results Twenty-eight of the 29 patients were females. Ages of patients ranged from 12 to 19 years. Nineteen cases were resections. Tail was the commonest location. Mean tumor size was 9.5 cm. In 89.5% cases, tumor was confined to the pancreas. In 2 cases, distant metastasis was present. In 2 cases, extension beyond pancreas was seen. Solid and pseudopapillary areas were seen in all cases while other features were variable. Beta catenin and Cyclin D1 were positive in most cases while TFE3 was positive in 57% cases. Progesterone Receptor (PR) was positive in all 13 cases in which it was performed. Follow up was available in 14 patients. Follow up period ranged from 3 to 70 months. Twelve were alive and well without recurrence or metastasis while 2 were alive with recurrence and metastasis to liver and omentum respectively. Conclusions Although many studies on SPNs have been published, surgeons, oncologists and even pathologists in this part of the world are often not aware of these rare tumors leading to inaccuracies and delays in diagnosis. In addition, this paper focusses on the interesting observation that the majority of SPNs diagnosed in our department during study period occurred in patients under 20 years of age (29 versus 21 in patients over 20). However, clinico-epidemiological, morphologic and prognostic features were similar in both age groups. Possibility of SPNs should always be considered in case of pancreatic neoplasms occurring in patients under 20 years of age as well. We believe that this is a very interesting and helpful study for the clinicians as well as the pathologists.

scholarly journals The clinicopathological and molecular features of sporadic gastric foveolar type neoplasia

2020 ◽  
Vol 477 (6) ◽  
pp. 835-844 ◽  
Author(s):  
Tamotsu Sugai ◽  
Noriyuki Uesugi ◽  
Wataru Habano ◽  
Ryo Sugimoto ◽  
Makoto Eizuka ◽  
...  
Keyword(s):  
Methylation Status ◽  
Clinicopathological Characteristics ◽  
Intestinal Type ◽  
Low Grade ◽  
P53 Overexpression ◽  
Mucin Phenotype ◽  
Molecular Alterations ◽  
Molecular Features ◽  
Cdx2 Expression ◽  
Independent Entity

AbstractGastric intraepithelial foveolar type neoplasia (IEFN) is not well defined. In addition, atrophic mucosa (AM) is an important issue to consider when evaluating gastric tumorigenesis. Here, we assessed the clinicopathological characteristics and molecular alterations contributing to the development of IEFN compared with intestinal type neoplasia. We examined the clinicopathological and molecular features of 42 cases of IEFN with low-grade dysplasia (LGD) and those of 77 cases of intraepithelial intestinal type neoplasia (IEIN) with LGD. The clinicopathological and molecular features examined included the AM status, mucin phenotype expression, CDX2 expression, p53 overexpression, β-catenin intranuclear accumulation, microsatellite instability (MSI), DNA methylation status (low methylation epigenotype [LME], intermediate ME, or high ME), allelic imbalances (AIs), and APC promoter 1B mutations. There were no differences in the frequencies of AM and rates of CDX2 expression between IEFN and IEIN cases. Although no differences in the frequencies of p53 overexpression and MSI were observed between the two histological types, intranuclear expression of β-catenin was significantly higher in IEIN than in IEFN. In addition, although the rate of LME was significantly higher in IEFN cases than in IEIN cases, IEFN was characterized by AIs at multiple foci. Finally, mutation of the APC promoter 1B, which is a characteristic of gastric adenocarcinoma and proximal polyposis of the stomach (potentially resembling IEFN), was detected in only one IEFN case. These findings suggested that IEFN may be an independent entity in terms of molecular alterations including the presence of multiple AIs and LME.

scholarly journals Clinical and Molecular Features of Disseminated Pediatric Low Grade Glioma - A Systematic Review of Literature

2021 ◽  
Author(s):  
Joseline Haizel-Cobbina ◽  
Rut Thakkar ◽  
Kelsey Richard ◽  
Adrian Levine ◽  
Julie Bennett ◽  
...  
Keyword(s):  
Systematic Review ◽  
Disease Surveillance ◽  
Tumor Location ◽  
Genetic Alterations ◽  
Risk Of Bias ◽  
Low Grade ◽  
Molecular Alterations ◽  
Molecular Features ◽  
1P Deletion ◽  
Csf Diversion

Abstract INTRODUCTIONGliomas account for approximately 46% of all pediatric CNS tumors. There is growing awareness of pediatric low-grade gliomas (PLGG) that disseminate to distant parenchymal or leptomeningeal locations either at the time of initial diagnosis or upon disease surveillance. Disseminated PLGGs (dPLGGs) are associated with a poorer prognosis than non-disseminated PLGGs. To date there is no comprehensive report characterizing the genome profile of dPLGGs and their associated management. This systematic review aims to identify the pattern of genetic alterations and treatment outcomes described for dPLGG.METHODSA systematic review of the literature was performed to identify relevant articles. A quality and risk of bias assessment of articles was done using the GRADE framework and ROBINS-I tool, respectively.RESULTSFifty-two studies published from 1994 to 2020 were included in this review with 368 cases reported. There was sporadic reporting of genetic alterations. The most common genetic alteration observed among study subjects was 1p deletion (76%) and BRAF-KIAA1549 fusion (55%). BRAF p.V600E mutation was found in 7% of subjects. A higher proportion of cases demonstrated primary dissemination compared to secondary dissemination (65% vs 25%). First-line chemotherapy consisted primarily of an alkylation-based regimen and vinca alkaloids. Surgical intervention ranged from biopsy alone to surgical resection and CSF diversion, and depended largely upon tumor location and timing of dissemination. Overall, 73% of cases were alive at last follow-up (median, 40.2 months). All studies reviewed either ranked low or moderate for both quality and risk of bias assessments. CONCLUSIONWhile 1p deletion and BRAF-KIAA1549 fusion are the most commonly described molecular alterations in dPLGG, these tumors appear to express heterogeneous molecular and biological characteristics distinct from non-disseminated PLGGs. Additional studies on the molecular and biological features of these tumors are needed to better understand the pathogenesis of dPLGG and to inform the development of additional targeted regimens.

scholarly journals Hypoplastic Myelodysplastic Syndromes: Just an Overlap Syndrome?

Cancers ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 132
Author(s):  
Bruno Fattizzo ◽  
Fabio Serpenti ◽  
Wilma Barcellini ◽  
Chiara Caprioli
Keyword(s):  
Bone Marrow ◽  
Aplastic Anemia ◽  
Clonal Selection ◽  
Cytotoxic T Cells ◽  
Immunosuppressive Treatment ◽  
Young Patients ◽  
Suppressor Cells ◽  
Molecular Alterations ◽  
Molecular Features ◽  
Increased Risk

Myelodysplasias with hypocellular bone marrow (hMDS) represent about 10–15% of MDS and are defined by reduced bone marrow cellularity (i.e., <25% or an inappropriately reduced cellularity for their age in young patients). Their diagnosis is still an object of debate and has not been clearly established in the recent WHO classification. Clinical and morphological overlaps with both normo/hypercellular MDS and aplastic anemia include cytopenias, the presence of marrow hypocellularity and dysplasia, and cytogenetic and molecular alterations. Activation of the immune system against the hematopoietic precursors, typical of aplastic anemia, is reckoned even in hMDS and may account for the response to immunosuppressive treatment. Finally, the hMDS outcome seems more favorable than that of normo/hypercellular MDS patients. In this review, we analyze the available literature on hMDS, focusing on clinical, immunological, and molecular features. We show that hMDS pathogenesis and clinical presentation are peculiar, albeit in-between aplastic anemia (AA) and normo/hypercellular MDS. Two different hMDS phenotypes may be encountered: one featured by inflammation and immune activation, with increased cytotoxic T cells, increased T and B regulatory cells, and better response to immunosuppression; and the other, resembling MDS, where T and B regulatory/suppressor cells prevail, leading to genetic clonal selection and an increased risk of leukemic evolution. The identification of the prevailing hMDS phenotype might assist treatment choice, inform prognosis, and suggest personalized monitoring.

scholarly journals Low-grade serous epithelial ovarian cancer: a comprehensive review and update for radiologists

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Sofia Amante ◽  
Filipa Santos ◽  
Teresa Margarida Cunha
Keyword(s):  
Ovarian Cancer ◽  
Serous Carcinoma ◽  
Low Grade ◽  
Resonance Imaging ◽  
Clinicopathologic Characteristics ◽  
Borderline Tumour ◽  
Molecular Features ◽  
Serous Epithelial Ovarian Cancer ◽  
The Difference

AbstractLow-grade serous carcinoma (LGSC) is an infrequent subtype of ovarian cancer, corresponding to 5% of epithelial neoplasms. This subtype of ovarian carcinoma characteristically has molecular features, pathogenesis, clinical behaviour, sensitivity to chemotherapy, and prognosis distinct to high-grade serous carcinoma (HGSC). Knowing the difference between LGSC and other ovarian serous tumours is vital to guide clinical management, which currently is only possible histologically. However, imaging can provide several clues that allow differentiating LGSC from other tumours and enable precise staging and follow-up of ovarian cancer treatment. Characteristically, LGSC appears as mixed lesions with variable papillary projections and solid components, usually in different proportions from those detected in serous borderline tumour and HGSC. Calcified extracellular bodies, known as psammoma bodies, are also a common feature of LGSC, frequently detectable within lymphadenopathies and metastases associated with this type of tumour. In addition, the characterisation of magnetic resonance imaging enhancement also plays an essential role in calculating the probability of malignancy of these lesions. As such, in this review, we discuss and update the distinct radiological modalities features and the clinicopathologic characteristics of LGSC to allow radiologists to be familiarised with them and to narrow the differential diagnosis when facing this type of tumour.

scholarly journals O39: THE HISTOPATHOLOGICAL AND MOLECULAR FEATURES OF BREAST CARCINOMA WITH HIGH-GRADE TUMOUR BUDDING

2021 ◽  
Vol 108 (Supplement_1) ◽  
Author(s):  
A Lloyd ◽  
E Ryan ◽  
M Boland ◽  
S Medani ◽  
Abd Elwahab ◽  
...  
Keyword(s):  
Breast Carcinoma ◽  
Epithelial To Mesenchymal Transition ◽  
Lymph Node Involvement ◽  
Low Grade ◽  
High Grade ◽  
Prognostic Variables ◽  
Mesenchymal Transition ◽  
Molecular Features ◽  
Newcastle Ottawa Scale ◽  
Tumour Budding

Abstract Background Tumour budding (TB) is an adverse histological feature in many cancers. It is thought to represent epithelial-to-mesenchymal transition, a key step in the metastatic process. The role of TB in breast carcinoma (BC) remains unclear. Aim To investigate the relationship between TB and other histological and molecular features of BC. Method A systematic search was performed to identify studies that compared features of BC based on the presence or absence of high-grade TB. Dichotomous variables were pooled as odds ratios (OR) using the Cochran–Mantel–Haenszel method. Quality assessment of the included studies was performed using the Newcastle-Ottawa scale (NOS). Result Seven studies with a total of 1040 patients (high grade TB n=519, 49.9%; low grade TB n=521, 50.1%) were included. A moderate- to high-risk of bias was noted. The median NOS was 7 (range 6-8). High-grade TB was significantly associated with lymph node involvement (OR 2.28, 95% c.i. 1.74 to 2.98, P&lt;0.001) and lymphovascular invasion (OR 3.08, 95% c.i. 2.13 to 4.47, P&lt;0.001). Regarding molecular subtypes, there was an increased likelihood of high-grade TB in oestrogen- (OR 1.66, 95% c.i. 1.21 to 2.29, P=0.002) and progesterone-receptor positive (OR 1.68, 95% c.i. 1.10 to 2.59, P=0.02) tumours. In contrast triple negative breast cancer had a reduced incidence of high-grade TB (OR 0.46, 95% c.i. 0.30 to 0.72, P=0.0006). Conclusion High-grade TB is enriched in hormone-positive BC and is associated with known adverse prognostic variables. TB may offer new insights into the metastatic processes of luminal BC. Take-home message High-grade TB is enriched in hormone-positive BC and is associated with known adverse prognostic variables. TB may offer new insights into the metastatic processes of luminal BC.

scholarly journals HGG-02. ADOLESCENT AND YOUNG ADULT (AYA) GLIOMA WITH BRAF V600E-MUTANTATION

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii344-iii344
Author(s):  
Yui Kimura ◽  
Yukitomo Ishi ◽  
Yuko Watanabe ◽  
Yoshiko Nakano ◽  
Shigeru Yamaguchi ◽  
...  
Keyword(s):  
Braf Inhibitor ◽  
Clinical Information ◽  
Early Recurrence ◽  
Pleomorphic Xanthoastrocytoma ◽  
Adolescent And Young Adult ◽  
Braf V600e ◽  
Low Grade ◽  
Diffuse Astrocytoma ◽  
Genetic Features ◽  
Epithelioid Glioblastoma

Abstract BACKGROUND Biological features of pediatric glioma differ significantly from those of adult glioma, and limited data are available on those of AYA patients. Here, we focused on AYA patients with glioma, especially those harboring BRAF V600E mutation, and investigated their clinical and genetic features. METHOD: We retrospectively analyzed AYA patients with brain tumors harboring BRAF V600E, who were treated in two hospitals in Japan. RESULTS Clinical information was available for 14 patients. The median age at diagnosis was 25 years (range: 15–38). Five patients were diagnosed with glioblastoma (GBM), including one epithelioid type. These patients were over 25. Although one patient with GBM died of the disease 6.9 years after initial diagnosis, the remaining patients were alive. Two patients were alive without recurrence at 38 and 51 months after the treatment. The patient with epithelioid glioblastoma experienced early recurrence. The remaining nine patients (64%) were diagnosed with low-grade glioma, including ganglioglioma, pilocytic astrocytoma, diffuse astrocytoma, oligodendroglioma, pleomorphic xanthoastrocytoma, and polymorphous low-grade neuroepithelial tumor of the young. No patients died of the disease, and four patients are alive without recurrence after initial operation without adjuvant treatment. Two patients are (epithelioid glioblastoma and ganglioglioma) currently undergoing treatment with a BRAF inhibitor for recurrent tumors. DISCUSSION Although the number of this study is limited, our study suggested that the prognosis of AYA patients with BRAF-V600E positive GBM may not be as dismal as that of children or adults.

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