scholarly journals Antiangiogenesis Combined with Immunotherapy to Treat Advanced Small-Cell Carcinoma of the Esophagus Resistant to Chemotherapy: According to the Guidance of Next-Generation Sequencing

2021 ◽  
Vol Volume 14 ◽  
pp. 1613-1621
Author(s):  
Man Jiang ◽  
Xiaochun Zhang
Keyword(s):  
Next Generation Sequencing ◽  
Cell Carcinoma ◽  
Small Cell Carcinoma ◽  
Small Cell ◽  
Next Generation ◽  
Carcinoma Of The Esophagus ◽  
Generation Sequencing

Primary Esophageal Mixed Sarcomatoid and Small Cell Neuroendocrine Carcinoma With Brain Metastasis: A Challenging Diagnosis on Biopsy

2018 ◽  
Vol 27 (1) ◽  
pp. 84-88 ◽  
Author(s):  
Christopher J. Schwartz ◽  
Richard Hickman ◽  
Xuchen Zhang ◽  
Antonio Galvao Neto ◽  
Esther Adler
Keyword(s):  
Next Generation Sequencing ◽  
Brain Metastasis ◽  
Cell Carcinoma ◽  
Small Cell ◽  
Cell Component ◽  
Diagnostic Challenge ◽  
Small Cell Neuroendocrine Carcinoma ◽  
Carcinoma Of The Esophagus ◽  
Repeat Sampling ◽  
Generation Sequencing

Mixed carcinomas in the esophagus are highly uncommon neoplasms that represent a diagnostic challenge on small tissue biopsies. We present a case of a primary mixed sarcomatoid–small cell carcinoma of the esophagus that was diagnosed after repeat sampling of the lesion. The components were morphologically distinct and could be further classified by immunohistochemistry. Next-generation sequencing identified mutations in PIK3CA and CDKN2A. The small cell component morphology was also identified in brain metastasis.

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 MET-04 A case of Brain Metastases with repeated bleeding from Esophageal carcinoma

2020 ◽  
Vol 2 (Supplement_3) ◽  
pp. ii19-ii19
Author(s):  
Masataka Mikai ◽  
Mitsuyoshi Abe ◽  
Yo watanabe ◽  
Chie Nakada ◽  
Yutaka Huchinoue ◽  
...  
Keyword(s):  
Brain Tumor ◽  
Brain Metastases ◽  
Esophageal Carcinoma ◽  
Cell Carcinoma ◽  
Small Cell Carcinoma ◽  
Cerebral Hemorrhage ◽  
Small Cell ◽  
The Body ◽  
Metastatic Brain Tumor ◽  
Carcinoma Of The Esophagus

Abstract Brain metastases from esophageal cancer is rare and the incidence has been reported at approximately 5%. We report a case of brain metastases with repeated bleeding from Esophageal carcinoma. The case is a 76-year-old man. Three years ago he was diagnosed with small cell carcinoma of the esophagus by endoscopic biopsy. Metastasis was found only in the cervical lymph node, but the condition was stable by chemoradiotherapy and no metastases were found throughout the body before 1 month. He was admitted to the hospital because of a sudden convulsion, and CT scan revealed cerebral hemorrhage in the right frontal lobe. We performed conservative treatment, but rebleeding was observed from the same site repeatedly after 1 month and 2 months. Due to the influence of bleeding, it was difficult to distinguish cerebral hemorrhage from brain tumor by contrast MRI. After surgery, the cause of bleeding was diagnosed as metastatic brain tumor of esophageal small cell carcinoma. Postoperative radiation therapy was performed in another hospital, but rebleeding was observed 3 months after the operation. A reoperation was performed at another hospital, and a recurrence of metastatic brain tumor was diagnosed. In the case of highly malignant metastatic brain tumors, it was considered necessary to frequently follow the images.

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