Esophageal Carcinosarcoma Research Articles

Genomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report

BackgroundEsophageal carcinosarcoma (ECS) is a relatively rare malignancy, accounting for < 1% of all esophageal cancers. Its etiopathogenesis remains unknown. This study analyzed the genomic abnormalities in sarcomatous tumors from two patients undergoing subtotal esophagectomy using whole genome sequencing to elucidate the key characteristics of ECS.Case presentationWe identified TP53 driver mutations, copy number gains in 11q13 (including CCND1), and Apolipoprotein B mRNA editing enzyme catalytic polypeptide (APOBEC) signature enrichment in both ECS patients. Along with common genetic abnormalities, we identified CDKN2A driver mutations in case 1 and RAC1, NOTCH1, and TTC28 as novel fusion gene partners of MECOM in case 2. Notably, we detected germline pathogenic variant in Fanconi anemia (FA) complementation group I (FANCI) and group G (FANCG), which are involved in repairing DNA double-strand breaks by homologous recombination, for the first time, in ECS blood samples. These germline variants were truncating-type, Lys1221fs of FANCI (rs1567179036) for case 1 and Gln365Ter of FANCG (rs121434426) for case 2. We also identified somatic changes in cancer-associated pathways, such as PI3K/Akt/mTOR, cell cycle, and NOTCH signaling pathways, and structural chromosomal defects such as chromosome doubling.ConclusionsOur findings indicate that therapeutic drugs targeting the activation signal or FA pathway might be effective in treating ECS, however, their therapeutic significance should be elucidated in future studies.

A case of esophageal carcinosarcoma treated with prophylactic thoracic endovascular aortic repair

A case of esophageal carcinosarcoma treated with prophylactic thoracic endovascular aortic repair

Clinicopathologic features and surgical treatment prognosis of esophageal carcinosarcoma.

Carcinosarcoma is a rare esophageal tumor, accounting for approximately 0.27-2.8% of malignant esophageal tumors. This study aims to investigate the clinical pathological characteristics, surgical treatment outcomes, and analysis of prognostic factors in esophageal carcinosarcoma (ECS). Clinical data from sixteen patients diagnosed with esophageal sarcomatoid carcinoma who underwent surgical interventions were retrospectively analyzed. Clinical and pathological features, treatment modalities, and postoperative outcomes were systematically examined. Out of the 1261 patients who underwent surgical treatment for esophageal cancer, 16 cases were pathologically confirmed as carcinosarcoma. Among them, two underwent neoadjuvant chemotherapy, six received postoperative chemotherapy. Carcinosarcomas predominantly occurred in the middle (43.75%) and lower (50%) segments of the esophagus. Among the 16 cases, 10 presented as polypoid, 4 as ulcerative, and 2 as medullary types. Microscopic examination revealed coexistence and transitional transitions between sarcomatous and carcinoma components. Pathological staging showed 5 cases in stage T1, 2 in stage T2, and 9 in stage T3, with lymph node metastasis observed in 8 cases (50%). TNM staging revealed 2 cases in stage I, 9 in stage II, and 5 in stage III. The overall 1, 3, and 5-year survival rates were 86.67%, 62.5%, and 57.14%, respectively. Univariate analysis indicated that pathological N staging influenced survival rates, while multivariate analysis demonstrated that pathological N staging was an independent prognostic factor. Carcinosarcoma is a rare esophageal tumor, accounting for approximately 0.27-2.8% of malignant esophageal tumors. Histologically, the biphasic pattern is a crucial diagnostic feature, although the carcinomatous component may not always be evident, especially in limited biopsies, leading to potential misclassification as pure sarcoma or squamous cell carcinoma. Despite its large volume and cellular atypia, carcinosarcoma carries a favorable prognosis. Complete surgical resection of the tumor and regional lymph node dissection is the preferred treatment approach for esophageal carcinosarcoma.

S2408 A Case of Advanced Esophageal Carcinosarcoma

Introduction: The majority of esophageal cancers are classified histologically as squamous cell carcinomas or adenocarcinomas. We present a case of a 69-year-old man, presented with progressive dysphagia, found to have an esophageal carcinosarcoma, a rare etiology of esophageal cancer. Case Description/Methods: A 69-year-old man, an everyday smoker with a history of ongoing alcohol use, presented for the evaluation of unintentional weight loss and progressive dysphagia of 2 months duration. Upper endoscopy revealed a large, 6 cm in diameter, partially obstructing ulcerating mass in the mid esophagus. PET/CT revealed intense FDG uptake in the esophageal mass, mediastinal lymph nodes, T6 and T10 ribs suggestive of metastatic disease. Surgical pathology of the tumor was consistent with a high grade squamous cell carcinoma mixed with a high grade spindle cell sarcoma (carcinosarcoma). The patient was started on chemoradiation including Paclitaxel, Carboplatin. Improvement of symptoms and CT findings was documented with treatment (Figure). Discussion: Esophageal cancer ranks seventh in incidence and sixth in cancer-related mortality. The majority of esophageal cancers are classified histologically as squamous cell carcinomas or adenocarcinomas. When 2 distinct malignant components, both carcinomatous and sarcomatous are present histologically, the tumor is classified as esophageal carcinosarcoma (ECS). The pathogenesis is debatable, with some arguing that it is an initial carcinoma, facilitating a simultaneous secondary development of sarcoma, while others hypothesize a single cell origin. Carcinosarcomas were documented in tumors of the uterus, breast, thyroid, lung and gastrointestinal tract. ECSs have a rare incidence, accounting for approximately 1.5% of all esophageal tumors. It has been noted that ECS tumors have different clinical behaviors when compared to squamous cell carcinomas or adenocarcinomas. ECS tumors were noted to have a calculated doubling time of 2.2 months, with predominantly exogenous polypoid growth, perhaps explaining the earlier symptom of dysphagia, earlier diagnosis and more favorable 5 year survival rate. Given their rarity, no standard protocol has been developed to treat ECS tumors. Resection, regional lymph node dissection, radiotherapy and chemotherapy have all been utilized. Our case presentation further enriches the literature regarding rare, advanced esophageal adenocarcinoma tumors responding to systemic therapy.Figure 1.: A, B - Endoscopic findings. A large protruding, 6 cm in diameter partially obstructing ulcerating mass in the mid esophagus. C - Intense FDG uptake by the esophageal tumor in the esophagus (green arrow) and intense FDG uptake in the posterior/lateral aspect of the right T6 rib (yellow circle). D - Intensely avid subcarinal lymph node (yellow circle).

Esophageal carcinosarcoma comprising undifferentiated pleomorphic sarcoma and squamous cell carcinoma: a case report

BackgroundEsophageal carcinosarcoma (ECS) is a rare malignant tumor that often presents as an intraluminal polypoid lesion in the esophageal lumen. The pathogenesis of esophageal carcinosarcoma is not clear and its etiology is still being discussed.Case presentationWe report the case of a 68-year-old male who had dysphagia for approximately three months. Contrast-enhanced computed tomography showed an irregular enhancing mass in the lower esophagus. Endoscopy showed a gray-white mass with a smooth surface that almost filled the esophageal lumen at a location 28 cm from the incisor tooth. Considering the location of the tumor, we opted for Ivor-Lewis esophagectomy with intrathoracic anastomosis through a 5-port laparoscope and uniport video-assisted thoracic surgery (VATS). Pathological analysis showed that the mass comprised carcinoma in situ and pleomorphic sarcoma, without lymphatic metastasis. The postoperative pathological stage was T1bN0M0, stage I (Japanese Classification of Esophageal Cancer 11th Edition). The latest follow-up of the patient was 14 months after the surgery, and no signs of recurrence or metastasis were found.ConclusionThis case demonstrates a rare esophageal malignancy with a peculiar histological composition. Successful VATS esophagectomy with intrathoracic anastomosis was conducted without recurrence or metastasis at the 14-month follow-up.

Rapidly growing carcinosarcoma of the esophagus following definitive chemoradiotherapy: A case report and the literature review.

IntroductionEsophageal carcinosarcoma is a rare malignancy composed of both carcinoma and sarcoma-like spindle cells. This tumor is usually diagnosed before treatment due to its unique macroscopic appearance but accurate diagnose is difficult even via biopsy if the sarcomatous component is small. Herein, we report a rare case of esophageal carcinosarcoma showing rapid growth after definitive chemoradiotherapy.Presentation of caseA 65-year-old man was diagnosed with locally advanced esophageal squamous cell carcinoma with lymph node metastasis. Following definitive chemoradiotherapy, the primary tumor and metastatic lymph nodes were markedly reduced. However, at 14 weeks after treatment, an ulcerative lesion appeared at the site of the primary tumor and was clinically interpreted as residual cancer. The tumor rapidly grew in a short period of time and new metastatic lesions were clinically detected in the supraclavicular lymph nodes. Salvage esophagectomy was immediately performed and histopathological examination of the resected specimen revealed that the tumor was largely composed of sarcomatous spindle cells harboring the histological transition from squamous cell carcinoma. The final diagnosis was esophageal carcinosarcoma.DiscussionDue to its characteristics, esophageal carcinosarcoma may occasionally get diagnosed as squamous cell carcinoma by endoscopic biopsy and chemoradiotherapy be performed for latent sarcomatous components unintentionally. There are only a few reports of esophageal carcinosarcoma treated with chemoradiotherapy, with its safety and efficacy not fully verified.ConclusionIn cases of rapidly growing tumors following chemoradiotherapy, carcinosarcoma should be considered as one of the differential diagnoses, warranting prompt surgical procedures.

PD-L1 Expression and Intra-Tumoral CD8+ T Lymphocytes in Esophageal Carcinosarcoma

We detected PD-L1 and intra-tumoral CD8+ T lymphocytes (CD8+ TIL) in 19 patients with esophageal carcinosarcoma (ECS). The median follow-up period of these patients was 43 months, and the three- and five-year survival rates were 78.9 and 63.2%, respectively. No statistically significant correlation was observed between PD-L1 and CD8+ TIL in sarcomatous components(SC) (r = −0.262, p = 0.279) and epithelial carcinomatous (EC) (r = 0.055, p = 0.824). This study examined the immunological markers in ECS for the first time. PD-L1 is highly expressed in the SC and is associated with a poorer prognosis.

Two-stage Operation Performed for a Patient with Synchronous Triple Primary Cancer Comprising Esophageal Carcinosarcoma, Gastric Cancer, and Colonic Cancer

症例は67歳，男性．Body mass index （BMI）:12kg/m2の低体重があり，既往歴に糖尿病を認めた．2019年11月，つかえ感と体重減少を主訴に受診し，上部消化管内視鏡検査で胸部中部から下部食道にかけて約8cm大の巨大腫瘤性病変を認めた．同時に早期胃癌と進行S状結腸癌を認め，3重複癌と診断し，手術侵襲を分散する目的で二期分割手術の方針とした．一期目に胸腔鏡下食道亜全摘，腹腔鏡下S状結腸切除，腹腔鏡下胃全摘，頸部食道瘻造設術，腸瘻造設を施行した．35日後に胸骨後経路回結腸再建を施行し，術後経過良好で20日後に退院した．病理組織学的診断は，食道癌肉腫pT3N0M0 pStage II，胃癌pT1aN0M0 pStage Ia，S状結腸癌pT3N1bM0 pStage IIIbであった．まれな3重複癌に対し，鏡視下手術と二期分割手術を選択することで手術侵襲を軽減し，安全に根治切除が可能であった症例を経験した．鏡視下手術，二期分割手術はハイリスク症例に対して有用な治療選択と考えられた．

Long-term survival case of esophageal carcinosarcoma coexisting with alcoholic liver cirrhosis successfully treated by staged operation: A case report.

IntroductionPatients with esophageal cancers including carcinosarcoma sometimes have underlying liver cirrhosis because of a history of heavy drinking. It is definitely required to determine the appropriate surgical strategy and to manage the patients promptly when performing esophagectomy for the esophageal carcinosarcoma coexisting with alcoholic liver cirrhosis.Presentation of caseA 56-year-old male patient with a history of chest pain and difficulty swallowing was admitted to our hospital. He had a history of drinking 250 g of alcohol per day. Endoscopy revealed an irregular protruding tumor on the left wall of the lower-third thoracic esophagus. Computed tomography showed a tumor lesion in the lower-third thoracic esophagus; the images also showed irregularities on the surface of the liver, suggestive of coexisting alcoholic liver cirrhosis. The preoperative diagnosis was T3N2M0, Stage III esophageal leiomyosarcoma. In consideration of the underlying alcoholic liver cirrhosis, a staged operation was planned for this patient as a curative treatment. The patient had an uneventful postoperative clinical course and was discharged on the 47th day after the first surgery. Final histopathological diagnosis was T2N0M0, Stage II esophageal carcinosarcoma. The patient is alive without recurrence three years after surgery.DiscussionThis is the first report of long-term survival case of esophageal carcinosarcoma with alcoholic liver cirrhosis that was treated successfully by staged operation.ConclusionsDespite coexisting with alcoholic liver cirrhosis, staged operation could reduce the surgical invasiveness, so that very good short-term outcome and long-term survival was obtained in the patient with esophageal carcinosarcoma.

Esophageal Carcinosarcoma: Analysis of Clinical Features and Prognosis of 24 Cases and a Literature Review.

Objective:Esophageal carcinosarcoma (ECS) is a rare malignant tumor that accounts for only 0.5%-2.8% of all esophageal malignancies. As most current studies are case reports, the relationship between clinical features and prognosis remains controversial.Methods:We investigated the clinical features and prognosis of 24 patients with ECS in a single center from 2006 to 2018. There were 18 male and 6 female patients aged 52-82 years with a median age of 62.5 years. In addition, we included 9 studies on ECS from PubMed and a literature review.Results:The median follow-up time of the 24 patients was 70.5 (range, 10-156)months. The 3-year and 5-year survival rates were 83.3% and 70.8%, respectively. Among the 24 patients, none of the 10 (41.7%) stage T1 cancer patients had lymph node metastasis; however, lymph node metastasis was noted in 8 (57.1%) stage T2-4 cancer patients. The literature review revealed that 211 patients had a 5-year survival rate of 11.8%-68.2%, and 54.5%-95.8% study participants had early stage ECS. Although the information provided in the literature review is limited, it appears to be a characteristic of the early stage of the disease and predicts better prognosis when ECS is diagnosed, which is similar to the result of the current study.Conclusion:Our results indicate that ECS has a favorable prognosis, even among patients with early stage ECS who undergo radical esophagectomy with lymph node dissection. Because of the low incidence of ECS, further studies with more cases need to investigate this rare malignancy.

Esophageal Carcinosarcoma in a Patient with Corrosive Esophagitis

Esophageal carcinosarcoma is a rare type of esophageal cancer characterized by both carcinomatous and sarcomatous components. Its endophytic growth tendency into the esophageal lumen leads to a higher curative resection rate. However, lymph node metastases in esophageal carcinosarcoma occur at a relatively early stage. We report a case of esophageal carcinosarcoma in a 52-year-old man who had dysphagia for 2 months and a history of ingestion of glacial acetic acid in adolescence. His endoscopy and chest CT results showed an 8.5-cm-sized ulcerative polypoid mass with multiple lymph node metastases in the mid-esophagus. Biopsy revealed an interweaving spindle cell proliferation with squamous dysplasia. Immunohistochemical staining showed positive expressions of vimentin and cytokeratin. Even though the patient received concomitant chemoradiotherapy with a stent insertion, he died 7 months after diagnosis. We herein present a case of corrosive esophagitis followed by esophageal carcinosarcoma that suggested the possibility of an association between the two diseases.

Molecular and clinicopathological analyses of esophageal carcinosarcoma with special reference to morphological change.

The molecular pathogenesis of esophageal carcinosarcoma (ECS) has not been fully investigated. This study includes 16 consequent cases of surgically resected ECS. Genetic alterations were independently examined for carcinoma in situ, carcinomatous, and sarcomatous areas. Six cases were analyzed by next-generation sequencing, and the remaining cases were analyzed by Sanger sequencing for TP53, PTEN, and INI1. Sarcomatous components in 3 cases showed histologically heterogenous feature of osteosarcoma. Lymph node metastasis was found in 12 out of 16 cases. Survival analysis revealed 5-year overall survival rate of 59.9%, and the median survival time was 5.37years. TP53 was the most frequently mutated gene, being identified in 11 of 16 patients (68.8%), 7 of whom (63.6%) had the same mutations in both carcinomatous and sarcomatous areas. Almost complete concordance was found between p53 immunohistochemistry and TP53 missense mutations. Five-year overall survival tended to be worse for patients with p53 overexpression, although the data was not significant (p = 0.186). Nine of 16 patients (56.3%) showed loss of heterozygosity (LOH) at the INI1 locus, and this LOH status was consistent with both components. However, interestingly, INI1 expression was preserved in all cases. In addition, copy number variation analysis revealed gene amplification in several tyrosine kinase receptors. Accumulation of mutations in tumor suppressor genes such as TP53 and INI1 seemed to occur during ECS development.

Cervical Esophageal Carcinosarcoma with Superficial Hypopharyngeal Invasion Dissected Using the Larynx Rotating Method to Preserve the Larynx

Cervical Esophageal Carcinosarcoma with Superficial Hypopharyngeal Invasion Dissected Using the Larynx Rotating Method to Preserve the Larynx

Carcinosarcoma of the esophagus: A report of 6 cases associated with zinc finger E-box-binding homeobox 1 expression.

Esophageal carcinosarcoma (ECS) has been suggested to result from an epithelial mesenchymal transition (EMT) phenomenon. However, knowledge on its underlying molecular features is limited. The clinical and pathological features, and the prognosis of ECS require further investigation. In the present study, a total of 325 patients with esophageal tumors were observed between January 2004 and December 2014, of which 6 patients were diagnosed pathologically with ECS. The clinicopathological features were compared with those of corresponding cases with the identical pathological T stage (pT) of esophageal squamous cell carcinoma (ESCC). In terms of the clinical T stage (cT), the 6 cases were composed of cT1, cT2, cT3 and cT4 in 1, 1, 3 and 1 case, respectively. Nevertheless, pT was eventually diagnosed as pT1 in all cases. There was a large discrepancy between clinically diagnosed depth of tumor invasion prior to surgery and depth of tumor invasion following surgery. Zinc finger E-box-binding homeobox 1 (ZEB1), an EMT-associated transcription factor, was expressed only in the sarcoma component in all 6 cases of ECS. The ECS cases had a significantly poorer prognosis compared with the 115 pT1 ESCC cases. The present study suggests that the depth of invasion of ECS lesions does not correspond with their respective size, and the EMT of the carcinoma component may affect the prognosis by overexpression of the ZEB1 gene.

A unique case of esophageal carcinosarcoma with histopathological diversities

We report a 57-year-old Japanese male with esophageal carcinosarcoma with histopathological diversities. The patient complained of dysphagia. Endoscopy of the upper gastrointestinal tract revealed a mass in the lower esophagus just above the esophagogastric junction. Pathological diagnosis of the biopsy was poorly differentiated squamous cell carcinoma/undifferentiated carcinoma. Preoperative chemotherapy was performed with poor response. Post-operative analyses revealed that the chest CT showed the appearance of mineralization after neoadjuvant chemotherapy. Surgery revealed a mass in the lower esophagus invading the esophagogastric junction from above. The mass was macroscopically polypoid with an infiltrative ulcer. The pathological diagnosis of the surgical specimen was carcinosarcoma of the lower esophagus, composed of sarcomatoid components (undifferentiated pleomorphic sarcoma-like, osteosarcomatous and chondrosarcomatous), invasive adenocarcinoma with ductal and glandular differentiation, several foci of non-invasive squamous cell carcinoma and invasive conventional and basaloid squamous cell carcinoma (ypT3N0M0, stage II). One year after the operation, the left hilar lymph node enlarged. A biopsy of the lymph node showed adenocarcinoma, consistent with metastatic esophageal cancer. Additional chemotherapy was given. Two years and four months after the operation, the patient died of multiple metastases, these included the brain.

Esophageal carcinosarcoma comprised of minimally invasive squamous cell carcinoma and undifferentiated pleomorphic sarcoma: A collision cancer?

Esophageal carcinosarcoma is a rare neoplasm with components of squamous cell carcinoma and sarcomatous spindle cell stroma. The latter may show overt mesenchymal differentiation but is thought to be derived from carcinoma cells in most cases. Here, we report a case of esophageal carcinosarcoma that appeared to be comprised of different origins of epithelial and mesenchymal tumor cells. The sarcomatous component formed an intralumial pedunculated large mass lesion that consisted of pleomorphic atypical histiocyte-like cells. The squamous epithelium exhibited features of mostly dysplasia with minor foci of microinvasive squamous cell carcinoma. The invasive carcinoma was apart from the sarcoma, and no transitions were observed between the epithelial and sarcomatous cells. Immunohistochemistry showed that the sarcoma cells did not express any lineage-specific markers, including those for epithelial cells and histiocytes, which lead to the diagnosis of undifferentiated pleomorphic sarcoma. Although cyclin D1 was overexpressed in the carcinoma cells, it was nearly negative in the sarcoma cells. These findings indicate that the tumor may be a collision carcinosarcoma. It is highly likely that the patient's history of heavy smoking and alcohol consumption were relevant to the pathogenesis, at least for the epithelial component, of the tumor.

Preoperative chemotherapy with docetaxel, cisplatin, and 5-fluorouracil for locally advanced esophageal carcinosarcoma: a case report and review of the literature

BackgroundEsophageal carcinosarcoma is a relatively rare malignant neoplasm composed of both epithelial carcinomatous and mesenchymal sarcomatous elements. There is no recommended clinical treatment for esophageal carcinosarcoma because of the rarity of the disease. This report describes a case of esophageal carcinosarcoma that was effectively treated with docetaxel, cisplatin, and 5-fluorouracil as preoperative chemotherapy.Case presentationA 73-year-old man had a chief complaint of dysphagia with epigastric pain. Esophagogastroduodenoscopy (EGD) revealed a polypoid neoplasm combined with an infiltrative ulcer that exhibited a mixture of squamous cell carcinoma and spindle cell sarcoma histologically. Computed tomography findings showed swollen lymph nodes in the mediastinum and around the cardia. We diagnosed esophageal carcinosarcoma cT3N1M0 cStage III. After preoperative chemotherapy with docetaxel, cisplatin, and 5-fluorouracil, the patient underwent thoracoscopic esophagectomy with three-field lymph node dissection. Histological findings revealed that the sarcomatous component had completely disappeared and the carcinomatous component was only confined by the basement membrane with scar formation of the muscularis propria. Mural fibrotic lesions were observed in several resected regional lymph nodes. Hence, immediately after preoperative therapy, the esophageal carcinosarcoma was diagnosed as ypTisN0M0 fStage I. The patient remained alive without tumor recurrence at 12 months after the operation.ConclusionsA review of the literature revealed that there is still no established therapeutic strategy for locally advanced esophageal carcinosarcoma, especially against the sarcomatous component. We herein provide the first report in which the sarcomatous component showed a complete response to preoperative chemotherapy with docetaxel, cisplatin, and 5-fluorouracil. Preoperative chemotherapy with docetaxel, cisplatin, and 5-fluorouracil followed by esophagectomy with extended lymphadenectomy may achieve definitive treatment for locally advanced esophageal carcinosarcoma.

Clinicopathological features and pathological evaluation of preoperative treatment of patients with resectable esophageal carcinosarcoma

Because esophageal carcinosarcoma (ECS) is rare, a treatment strategy similar to that employed in esophageal cancer is usually applied. However, the clinicopathological features and the treatment effects of preoperative chemotherapy or chemoradiotherapy (CT/CRT) are not well known. We retrospectively evaluated clinical and pathological characteristics of consecutive patients with pathologically confirmed ECS who underwent esophagectomy from 1996 to 2011 in our institution, and assessed their pathological response to preoperative CT/CRT in surgically resected specimens. We identified 19 patients with a final diagnosis of ECS who had then undergone curative surgery. In 6 of these, the preoperative pathological diagnosis by biopsy had been squamous cell carcinoma. In 7 of 13 patients treated by surgery alone, clinical T factors were overdiagnosed compared with pathological findings. Of patients who received preoperative CT (5-fluorouracil plus cisplatin) with (n = 2) and without (n = 4) concurrent RT (41.4–50.4 Gy), two had a partial response, in three, the disease remained stable, and one patient had progressive disease. Histopathological evaluation showed a limited pathological response in the sarcomatous component. Median overall survival of patients with and without preoperative treatment was 28.0 and 47.2 months, respectively [HR = 1.55 (95% CI 0.36–6.56)], and median relapse free survival was 13.4 months versus not achieved [HR = 2.06 (95% CI 0.54–7.76)]. The problems associated with clinical T stage diagnosis as well as the lack of evidence for an effect of preoperative treatment, especially on the sarcomatous component, mean that treatment strategies for ECS should be considered with care.

Next-generation sequencing of esophageal carcinosarcoma to reveal high frequency of actionable PIK3CA gene mutations.

e15503 Background: Esophageal carcinosarcoma (ESC) is a rare malignant esophageal neoplasm consisting of both carcinomatous and sarcomatous components. Drive genes mutations may potentially serve as novel biomarkers to targeted therapy in ESC, and they also may explain the mechanisms of the unique dual-differentiation pattern. Actionable gene alterations with any significant frequency in ESC were unknown due to specimen numbers and limited studies. A comprehensive study of clinical characteristic and molecular alterations in ESC is needed to better understand biology and guide therapy. Methods: Fifteen cases of ESCs which received surgical resection were retrospectively collected from the Zhejiang Cancer Hospital in China between 2009 and 2016, next generation sequencing was performed to identify genotypic changes, and clinical characteristic of these patients was also collected and analyzed. Results: ESC patients are easily occurred in male, heavy smokers, and old patients. The mainly gross types were medullary and fungating type. Mutation of phosphatase and tensin homologue ( PTEN), MAP2K1(MEK1), anaplastic lymphoma kinase ( ALK), RET, and NF1 were detected in one patient respectively. Mutation of ERBB2(HER2), MET and single copy loss of Rb1 were detected in two patients respectively. Mutation of ROS1 and phosphoinositide-3-kinase catalytic alpha ( PIK3CA) were detected in three patients respectively. Conclusions:PIK/AKT pathway may be important in pathogenesis of ESCs, and it may be an ideal therapeutic target.

術前DCF療法が奏効した食道癌肉腫の1例

術前DCF療法が奏効した食道癌肉腫の1例