An Unusual Case of Desmoplastic Melanoma With Monster Cells Imitating an Atypical Fibroxanthoma

2021 ◽  
pp. 106689692110447
Author(s):  
Juan J. Ríos-Martín ◽  
Manuel Pérez-Pérez ◽  
Sebastián Umbría-Jiménez ◽  
David Moreno-Ramírez ◽  
Ana Vallejo-Benítez
Keyword(s):  
Cyclin D1 ◽  
Copy Number ◽  
Poor Prognosis ◽  
Unusual Case ◽  
Prognostic Significance ◽  
Mutation Status ◽  
Atypical Fibroxanthoma ◽  
Desmoplastic Melanoma ◽  
Aggressive Tumor

Numerous cells with very large and irregular nuclei (“monster” cells) have not hitherto been reported in desmoplastic melanoma (DM). Their prognostic significance in melanomas is a matter of debate, although some authors have associated them with more aggressive tumor behavior. We report a mixed DM on the scalp of an 88-year-old woman imitating an atypical fibroxanthoma. Tumor cells stained positive for SOX10, S100, and cyclin D1; BRAF mutation status was negative, and fluorescence in situ hybridization analysis showed copy number gains in 11q13 (cyclin D1) and 6p25 (RREB1), and loss in 6q23 (MYB). Cyclin D1 amplification is associated with poor prognosis in melanoma.

Copy number analysis to identify tumor suppressor genes associated with enzalutamide (Enza) resistance and poor prognosis in metastatic castration-resistant prostate cancer (mCRPC) patients.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 5011-5011
Author(s):  
Xiangnan Guan ◽  
Duan-Chen Sun ◽  
Eric Lu ◽  
Joshua A. Urrutia ◽  
Robert Evan Reiter ◽  
...  
Keyword(s):  
Overall Survival ◽  
Tumor Suppressor ◽  
Tumor Suppressor Genes ◽  
Copy Number ◽  
Poor Prognosis ◽  
Molecular Mechanisms ◽  
Prognostic Significance ◽  
Copy Number Loss ◽  
Castration Resistant Prostate Cancer ◽  
Suppressor Genes

5011 Background: Although enza prolongs life in mCRPC pts, the development of drug resistance and subsequent disease progression is nearly universal. Seeking to clarify molecular mechanisms that underlie enza resistance, we analyzed whole genome sequencing (WGS) and RNA sequencing (seq) of tumors obtained from patients with enza-naive or -resistant mCRPC. Methods: One hundred and one men with mCRPC who underwent image-guided biopsy and subsequent WGS were included (n = 64 with enza-naive and n = 37 with enza-resistant mCRPC). The differential copy number alteration (CNA) events enriched in enza-resistant vs. naïve samples were determined, and the prognostic significance of differential CNAs was assessed. RNA-seq data were evaluated to confirm that CNAs correlated with changes in gene expression of relevant loci and to identify potentially druggable targets selectively activated in tumors with specific CNAs. Results: Copy number loss was more common than gain in enza-resistant tumors. Specifically, we identified 123 protein-coding genes that were more commonly lost in enza-resistant samples—eight of which were previously described tumor suppressor genes. There was a strong concordance of copy number loss and reduced mRNA expression of these genes. We identified one gene from this list of eight genes whose copy number loss was associated with poor overall survival (median overall survival from date of CRPC was 19.1 months in tumors with gene loss vs. 42.0 months in intact tumors, hazard ratio 3.8 [1.46–9.8], log-rank p = 0.003). Finally, Master Regulator analysis determined that tumors with copy number loss of this poor prognosis gene had activation of several potentially targetable factors, including the kinases Akt and PLK1. Conclusions: Copy number loss of specific tumor suppressor genes is associated with enza resistance in mCRPC patients. Previously unappreciated molecular subsets of enza-resistant CRPC were identified, including one subset associated with poor clinical outcome.

Rearrangement of MYC Is Associated With Poor Prognosis in Patients With Diffuse Large B-Cell Lymphoma Treated in the Era of Rituximab

2010 ◽  
Vol 28 (20) ◽  
pp. 3360-3365 ◽  
Author(s):  
Sharon Barrans ◽  
Simon Crouch ◽  
Alex Smith ◽  
Kathryn Turner ◽  
Roger Owen ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
B Cell ◽  
Poor Prognosis ◽  
International Prognostic Index ◽  
Prognostic Significance ◽  
Prognostic Index ◽  
B Cell Lymphoma ◽  
Prognostic Impact ◽  
Large B Cell

Purpose Rearrangement of MYC occurs in a proportion of diffuse large B-cell lymphomas (DLBCL), where they may be associated with an adverse clinical outcome. The aim of this study was to determine the frequency of MYC translocations in DLBCL and their prognostic impact in the era of cyclophosphamide, doxorubicin, vincristine, and prednisone plus rituximab (CHOP-R) therapy. Patients and Methods Three hundred three patients with previously untreated DLBCL, with no evidence of underlying follicular lymphoma, were investigated using immunohistochemistry and interphase fluorescent in situ hybridization for MYC, BCL6, and t(14;18)/BCL2 rearrangements. All patients (median age, 71.1 years; range, 23 to 96 years) were treated when CHOP-R was standard therapy for DLBCL and observed for a maximum of 4 years. Overall survival (OS) at 3 years was 49% (95% CI, 42% to 56%). Results MYC rearrangements were demonstrated in 35 (14%) of 245 biopsies with data available. Of these, 26 (74%) also had a t(14;18), 10 (26%) were BCL6 and MYC rearranged, and seven had all three abnormalities. Only age, International Prognostic Index, and MYC rearrangement retained prognostic significance in the final model. OS was significantly worse for patients with rearrangement of MYC (survival probability at 2 years = 0.35 in v 0.61 in the nonrearranged group). Conclusion The presence of a MYC rearrangement is a strongly adverse prognostic factor in CHOP-R–treated patients and can be used in combination with patients' age and IPI to accurately predict clinical outcome. In DLBCL, rearrangement of MYC is rarely found as the sole genetic abnormality and the poor prognosis of these patients is likely to reflect a synergistic effect alongside deregulation of BCL6 or BCL2.

Prognostic significance of cathepsin V (CTSV/CTSL2) in breast ductal carcinoma in situ

2019 ◽  
Vol 73 (2) ◽  
pp. 76-82 ◽  
Author(s):  
Michael Toss ◽  
Islam Miligy ◽  
Kylie Gorringe ◽  
Karuna Mittal ◽  
Ritu Aneja ◽  
...  
Keyword(s):  
Ductal Carcinoma In Situ ◽  
Carcinoma In Situ ◽  
Poor Prognosis ◽  
Ductal Carcinoma ◽  
Prognostic Significance ◽  
Tumour Cells ◽  
High Expression ◽  
Epithelial Tumour ◽  
Cathepsin V

AimsCathepsin V (CTSV/CTSL2) is a lysosomal cysteine proteinase and plays a role in extracellular matrix degradation. It is associated with poor prognosis in invasive breast cancer (IBC), but its role in breast ductal carcinoma in situ (DCIS) remains unclear. In this study, we aimed to evaluate the prognostic significance of CTSV in DCIS.MethodsCTSV protein expression was immunohistochemically assessed in a well-characterised and annotated cohort of DCIS comprising pure DCIS (n=776) and DCIS coexisting with IBC (n=239). CTSV expression was analysed in tumour cells and surrounding stroma, including its association with clinicopathological parameters and outcome.ResultsIn pure DCIS, high CTSV expression was observed in 29% of epithelial tumour cells and 20% of surrounding stroma. High expression in both components was associated with features of poor prognosis including higher nuclear grade, hormone receptor negativity and HER2 positivity. In addition, stromal CTSV expression was associated with larger DCIS size, comedo-type necrosis and high proliferation index. DCIS associated with IBC showed higher CTSV expression than pure DCIS either within the epithelial tumour cells or surrounding stroma (p<0.0001 and p=0.001, respectively). In DCIS/IBC, CTSV expression was higher in the invasive component than DCIS component either in tumour cells or surrounding stroma (both p<0.0001). CTSV stromal expression was associated with invasive recurrence independent of other prognostic factors in patients treated with breast conserving surgery (HR=3.0, p=0.005).ConclusionHigh expression of CTSV is associated with poor outcome in DCIS and is a potential marker to predict DCIS progression to invasive disease.

A new case of myelodysplastic syndrome associated with t(3;3)(q21;q26) and inv(11)(p15q22)

2020 ◽  
Vol 106 (6) ◽  
pp. NP18-NP22
Author(s):  
Valentina Monti ◽  
Filippo Bagnoli ◽  
Niccolo’ Bolli ◽  
Laura Vittoria ◽  
Sabine Stioui ◽  
...  
Keyword(s):  
High Risk ◽  
Poor Prognosis ◽  
Fluorescent In Situ Hybridization ◽  
Prognostic Significance ◽  
Case Description ◽  
Myeloid Malignancies ◽  
Myeloid Neoplasm ◽  
First Case ◽  
Proliferative Advantage

Introduction: Myeloid malignancies are associated with a number of recurrent and sporadic rearrangements that may be oncogenic by ensuring growth advantage and/or increased survival. t(3;3)(q21;q26) has been recognized as a recurrent abnormality in myelodysplastic syndromes (MDS) with poor prognostic significance. Inversion of chr(11) engendering NUP98-DDX10 chimeric product is sporadic and usually associated with diseases with poor prognosis (therapy-related myeloid neoplasm). To date, these cytogenetic abnormalities have been described as isolated events. Case description: We report the first case of an 80-year-old man with high-risk MDS harboring a translocation t(3,3)(q21q26) jointly with an inv(11)(p15q22) detected by fluorescent in situ hybridization analysis and conventional cytogenetic techniques. Conclusion: A similar pattern of acquisition was never described before in MDS. The coexistence of two independent, high-risk oncogenic, rare events in the same clone suggests that there may be a functional constraint for synergy between the two events, leading to a proliferative advantage and suggests the utility of extended genotyping in myeloid malignancies.

scholarly journals Prognostic significance of bone marrow FDG uptake in patients with gynecological cancer

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Kotaro Shimura ◽  
Seiji Mabuchi ◽  
Naoko Komura ◽  
Eriko Yokoi ◽  
Katsumi Kozasa ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Bone Marrow ◽  
Poor Prognosis ◽  
Gynecological Cancer ◽  
Prognostic Significance ◽  
Standardized Uptake Value ◽  
Suppressor Cells ◽  
Underlying Mechanism ◽  
Fdg Uptake

AbstractWe investigated the prognostic significance and the underlying mechanism of increased bone marrow (BM) 2-(18F) fluoro-2-deoxy-D-glucose as a tracer (FDG)-uptake in patients with gynecological cancer. A list of patients diagnosed with cervical, endometrial, and ovarian cancer from January 2008 to December 2014 were identified. Then, through chart reviews, 559 patients who underwent staging by FDG-positron emission tomography (PET)/computed tomography (CT) and subsequent surgical resection were identified, and their clinical data were reviewed retrospectively. BM FDG-uptake was evaluated using maximum standardized uptake value (SUVmax) and BM-to-aorta uptake ratio (BAR). As a result, we have found that increased BAR was observed in 20 (8.7%), 21 (13.0%), 21 (12.6%) of cervical, endometrial, and ovarian cancer, respectively, and was associated with significantly shorter survival. Increased BAR was also closely associated with increased granulopoiesis. In vitro and in vivo experiments revealed that tumor-derived granulocyte colony-stimulating factor (G-CSF) was involved in the underlying causative mechanism of increased BM FDG-uptake, and that immune suppression mediated by G-CSF-induced myeloid-derived suppressor cells (MDSCs) is responsible for the poor prognosis of this type of cancer. In conclusion, increased BM FDG-uptake, as represented by increased BAR, is an indicator of poor prognosis in patients with gynecological cancer.

scholarly journals Evolution of superficial spreading melanoma to resemble desmoplastic melanoma: case report

2021 ◽  
Author(s):  
Martin G. Cook ◽  
Barry W. E. M. Powell ◽  
Megan E. Grant ◽  
Adele C. Green
Keyword(s):  
Case Report ◽  
Clinical Management ◽  
Unusual Case ◽  
Primary Site ◽  
Mixed Tumor ◽  
Superficial Spreading ◽  
Superficial Spreading Melanoma ◽  
Desmoplastic Melanoma ◽  
Mixed Features ◽  
Melanoma Case

AbstractDesmoplastic melanoma commonly occurs on the head and neck in a pure form, but occasionally, it occurs in a mixed tumor with another type, usually superficial spreading melanoma (SSM), and rarely as a metastasis from a primary SSM. We report here a primary SSM on the leg of a 32-year-old male which metastasised to lymph nodes, and 10 years later recurred at the primary site initially with mixed features but evolving to resemble a uniformly desmoplastic, deeply invasive melanoma. This unusual case has implications for clinical management and is additionally notable for its reversal in behavior, from metastatic to local infiltrative type, correlating with the change in morphology.

scholarly journals Diffuse PRAME Expression Is Highly Specific for Thin Melanomas in the Distinction from Severely Dysplastic Nevi but Does Not Distinguish Metastasizing from Non-Metastasizing Thin Melanomas

Cancers ◽  
2021 ◽  
Vol 13 (15) ◽  
pp. 3864
Author(s):  
Maximilian Gassenmaier ◽  
Matthias Hahn ◽  
Gisela Metzler ◽  
Jürgen Bauer ◽  
Amir Sadegh Yazdi ◽  
...  
Keyword(s):  
Prognostic Significance ◽  
Diagnostic Interpretation ◽  
Dysplastic Nevi ◽  
Melanocytic Tumors ◽  
Invasive Component ◽  
Uncertain Significance ◽  
Long Term Follow Up

Background: PReferentially expressed Antigen in MElanoma (PRAME) immunohistochemistry is increasingly used as diagnostic adjunct in the evaluation of melanocytic tumors. The expression and prognostic significance of PRAME in melanomas ≤1.0 mm and its diagnostic utility in the distinction from severely dysplastic compound nevi (SDN) have not been studied. Methods: We investigated and compared the immunohistochemical PRAME expression in 70 matched thin metastasizing and non-metastasizing melanomas and 45 nevi from patients with long-term follow-up (35 SDN and 10 unequivocally benign compound nevi). Results: Diffuse PRAME staining in >75% of lesional epidermal and dermal melanocytes identified 58.6% of thin melanomas but did not distinguish metastasizing from non-metastasizing melanomas (p = 0.81). A superficial atypical melanocytic proliferation of uncertain significance, in which the final diagnostic interpretation favored a SDN was the only nevus with diffuse PRAME expression (1/45). Melanomas and SDN with PRAME immunoreactivity exhibited different staining patterns. Most melanomas (67.6%) showed uniform PRAME expression in the in situ and invasive component, whereas most SDN (81.0%) showed a decreasing gradient with depth. Conclusion: Diffuse intraepidermal and dermal PRAME staining is highly specific for melanomas in the distinction from SDN. PRAME expression is not a prognostic biomarker in melanomas ≤1.0 mm.

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