scholarly journals Next generation sequencing of Cytokeratin 20-negative Merkel cell carcinoma reveals ultraviolet-signature mutations and recurrent TP53 and RB1 inactivation

2016 ◽  
Vol 29 (3) ◽  
pp. 240-248 ◽  
Author(s):  
Paul W Harms ◽  
Angela M B Collie ◽  
Daniel H Hovelson ◽  
Andi K Cani ◽  
Monique E Verhaegen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Cell Carcinoma ◽  
Merkel Cell Carcinoma ◽  
Cytokeratin 20 ◽  
Merkel Cell ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Somatic Mutations in CDH1 and Other Clinically Actionable Mutations Imply Early Use of Targeted Agents

2021 ◽  
Vol 28 (1) ◽  
pp. 918-927
Author(s):  
Lei-Chi Wang ◽  
Tai-Chi Lin ◽  
Yi-Chen Yeh ◽  
Hsiang-Ling Ho ◽  
Chieh-Chih Tsai ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Cell Carcinoma ◽  
Tumor Tissue ◽  
Signet Ring Cell Carcinoma ◽  
Signet Ring Cell ◽  
Next Generation ◽  
Signet Ring ◽  
Ring Cell ◽  
Generation Sequencing ◽  
E Cadherin

Primary signet ring cell/histiocytoid carcinoma of the eyelid is a rare ocular malignancy and its diagnosis is often delayed. This neoplasm presents as an insidious, diffusely infiltrative mass in the periocular area that later infiltrates the orbit. An exenteration is usually indicated; however, nearly one-third of patients develop local recurrence or metastasis. Morphologically, it resembles signet ring cell carcinoma of the stomach and breast, raising the possibility of mutations in CDH1, the gene encoding E-cadherin. To determine whether primary signet ring cell/histiocytoid carcinoma harbors the CDH1 mutation or other actionable mutations, we analyzed the tumor tissue via next-generation sequencing. We identified only one case of primary signet ring cell carcinoma of the eyelid with adequate DNA quality for sequencing from the pathological archive during the period 2000 to 2020. A comprehensive evaluation including histopathology, immunohistochemistry, and next-generation sequencing assay was performed on tumor tissue. Immunohistochemically, the tumor exhibited E-cadherin membranous staining with the aberrant cytoplasmic staining of β-catenin. Using next-generation sequencing, we demonstrated the mutation in the CDH1 gene. In addition, other clinically actionable mutations including ERBB2 and PIK3CA were also detected. The alterations in other actionable genes indicate a need for larger studies to evaluate the pathogenesis and potential therapies for primary signet ring cell/histiocytoid carcinoma of the eyelid.

Acinic Cell Carcinoma of the Breast: Report of a Case With Immunohistochemical and Next-Generation Sequencing Studies

2021 ◽  
pp. 106689692110085
Author(s):  
Kaitlin D. Weaver ◽  
James Isom ◽  
Ashwini Esnakula ◽  
Karen Daily ◽  
Jaya R. Asirvatham
Keyword(s):  
Next Generation Sequencing ◽  
Cell Carcinoma ◽  
Triple Negative ◽  
Ductal Carcinoma ◽  
Left Breast ◽  
Acinic Cell Carcinoma ◽  
Next Generation ◽  
Carcinoma Of The Breast ◽  
Acinic Cell ◽  
Generation Sequencing

Acinic cell carcinoma of the breast is a rare subtype of triple-negative breast cancer that recapitulates the appearance of tumors seen in salivary glands. We present the case of a 42-year-old woman with an irregular, nontender mass above the left nipple during routine obstetric appointment at 24 weeks gestation. She was subsequently diagnosed with triple-negative invasive ductal carcinoma of the left breast, Nottingham grade 3, via core needle biopsy. She was treated with neoadjuvant therapy (doxorubucin and cyclophosphamide) antenatally and paclitaxel in the postpartum period followed by left mastectomy with sentinel node biopsy. The carcinoma in the mastectomy specimen showed a spectrum of morphologic patterns with immunohistochemistry revealing strong positivity for alpha-1-antichymotrypsin, epithelial membrane antigen (EMA), lysozyme, and S100. The histomorphology paired with the immunoprofile led us to the diagnosis of acinic cell carcinoma. We retrospectively performed immunostains in the core biopsy specimen, which demonstrated GATA-3 and DOG-1 positivity. Next-generation sequencing of the postneoadjuvant specimen using a 70-gene panel revealed 2 single-nucleotide variant (SNV) mutations: tumor protein 53 (TP53) (c.747G>T) SNV mutation and rearranged during transfection (RET) (c.2899G>A) SNV mutation.

scholarly journals Merkel Cell Carcinoma: Recent Progress and Current Priorities on Etiology, Pathogenesis, and Clinical Management

2009 ◽  
Vol 27 (24) ◽  
pp. 4021-4026 ◽  
Author(s):  
Keyword(s):  
Cell Carcinoma ◽  
Merkel Cell Carcinoma ◽  
Clinical Management ◽  
Expression Profiles ◽  
T Antigen ◽  
Neuroendocrine Cells ◽  
Human Polyomavirus ◽  
Adjuvant Radiation ◽  
Cytokeratin 20 ◽  
Merkel Cell

Purpose To expedite improved understanding, diagnosis, treatment, and prevention of Merkel cell carcinoma (MCC), a rare malignancy of cutaneous neuroendocrine cells that has a 28% 2-year mortality rate. Methods This article summarizes a workshop that discussed the state-of-the-art research and priorities for research on MCC and on a new human polyomavirus (ie, MCPyV) recently discovered in 80% of MCC tumors. Results Normal Merkel cells are widely distributed in the epidermis near the end of nerve axons and may function as mechanoreceptors or chemoreceptors. Malignant MCC cells typically stain for cytokeratin 20 as well as for other epithelial and neuroendocrine markers. MCC subtypes, which are based on histology, on cell line growth properties, and on gene expression profiles, have been reported but have not been linked to prognosis. Clinical management has been empiric. MCPyV is clonally integrated at various sites in the human genome of MCC tumors, with truncating mutations in the viral, large T antigen gene that interrupt viral replication. MCPyV seroprevalence may be high, as with previously known human polyomaviruses. MCC risk is increased 11-fold with AIDS and with other cell-mediated immune deficiencies, B-cell neoplasms, and ultraviolet radiation exposure. Conclusion Development and validation of a range quantitative polymerase chain reaction and serologic assays for detection of MCPyV, as well as an infectious clone of the virus, would clarify the fundamental biology, natural history, and epidemiology of the virus, of MCC, and of other diseases. Contingent on standardized histologic diagnosis and staging of MCC, consortia are needed to clarify the risks and benefits of sentinel lymph node biopsy, adjuvant radiation therapy, and salvage therapies; consortia are needed also for epidemiologic studies of MCC etiology.

Immunostaining for Thyroid Transcription Factor 1 and Cytokeratin 20 Aids the Distinction of Small Cell Carcinoma From Merkel Cell Carcinoma, But Not Pulmonary From Extrapulmonary Small Cell Carcinomas

2001 ◽  
Vol 125 (2) ◽  
pp. 228-231 ◽  
Author(s):  
W. Cheuk ◽  
M. Y. Kwan ◽  
Saul Suster ◽  
John K. C. Chan
Keyword(s):  
Transcription Factor ◽  
Cell Carcinoma ◽  
Small Cell Carcinoma ◽  
Merkel Cell Carcinoma ◽  
Small Cell ◽  
Cytokeratin 20 ◽  
Merkel Cell ◽  
Thyroid Transcription Factor 1 ◽  
Thyroid Transcription Factor ◽  
Transcription Factor 1

Abstract Objective.—To study the expression of thyroid transcription factor 1 (TTF-1) and cytokeratin 20 (CK20) in pulmonary small cell carcinomas, extrapulmonary small cell carcinomas, and Merkel cell carcinomas, and thereby determine whether these markers are helpful in distinguishing these 3 groups of small cell neuroendocrine carcinomas. Materials and Methods.—Immunostaining for TTF-1 and CK20 was performed in 102 cases of small cell carcinoma (pulmonary, 52; extrapulmonary, 50) and 23 cases of Merkel cell carcinoma. The results for the 3 groups were compared. Results.—Thyroid transcription factor 1 was expressed in 82.7% of pulmonary small cell carcinomas, 42.0% of extrapulmonary small cell carcinomas (range, 33.3–53.3% for the various sites), and 0% of Merkel cell carcinomas. Cytokeratin 20 staining was consistently negative in pulmonary small cell carcinomas, and positive in 4.0% of extrapulmonary small cell carcinomas and 100% of Merkel cell carcinomas. Conclusions.—Immunostaining for TTF-1, especially when combined with immunostaining for CK20, can aid in the distinction between Merkel cell carcinoma and small cell carcinoma (both pulmonary and extrapulmonary). However, in individual cases, these markers cannot be used to distinguish between pulmonary and extrapulmonary small cell carcinomas due to the extensive overlap in immunophenotypes.

scholarly journals Next-Generation Sequencing to Detect Deletion of RB1 and ERBB4 Genes in Chromophobe Renal Cell Carcinoma

2018 ◽  
Vol 188 (4) ◽  
pp. 846-852 ◽  
Author(s):  
Qingqing Liu ◽  
Kristine M. Cornejo ◽  
Liang Cheng ◽  
Lloyd Hutchinson ◽  
Mingsheng Wang ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Next Generation Sequencing ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Chromophobe Renal Cell Carcinoma ◽  
Next Generation ◽  
Generation Sequencing
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