Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Somatic Mutations in CDH1 and Other Clinically Actionable Mutations Imply Early Use of Targeted Agents
| العنوان: | Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Somatic Mutations in CDH1 and Other Clinically Actionable Mutations Imply Early Use of Targeted Agents |
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| المؤلفون: | Teh-Ying Chou, Yi-Chen Yeh, Lei-Chi Wang, Hsiang-Ling Ho, Chieh-Chih Tsai, Tai-Chi Lin |
| المصدر: | Current Oncology Current Oncology, Vol 28, Iss 90, Pp 918-927 (2021) |
| بيانات النشر: | MDPI AG, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Pathology, medicine.medical_specialty, Case Report, Malignancy, CDH1, Metastasis, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, eyelid carcinoma, Signet ring cell carcinoma, Carcinoma, medicine, Eyelid Carcinoma, RC254-282, biology, Signet ring cell, business.industry, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, biology.protein, signet ring cells, next-generation sequencing, Eyelid, business, CDH1 gene |
| الوصف: | 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. |
| تدمد: | 1718-7729 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::786f82d700e0fe99cecb196d4f45ab6dTest https://doi.org/10.3390/curroncol28010090Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....786f82d700e0fe99cecb196d4f45ab6d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17187729 |
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