High-Grade Mucoepidermoid Carcinoma Ex-Pleomorphic Adenoma of the Parotid Gland: Case Report and Review of Literature

Background: Mucoepidermoid carcinoma ex-pleomorphic adenoma (MECxPA) is an extremely rare salivary gland malignancy. With only nine prior reported cases, this entity represents a challenging histopathological diagnosis. Methods: We present a case of a 71-year-old male with an enlarging left neck mass over several months. CT showed both a parapharyngeal space mass and a separate level II neck mass. Results: The patient underwent resection of the left parapharyngeal mass and ipsilateral selective level II-IV lymphadenectomy. The final pathologic diagnosis was metastatic high-grade mucoepidermoid carcinoma ex-pleomorphic adenoma. Conclusions: We describe a novel presentation of high-grade mucoepidermoid carcinoma ex-pleomorphic adenoma as a metastatic parapharyngeal mass.

Preliminary proteomic analysis of human tears in lacrimal adenoid cystic carcinoma and pleomorphic adenoma

·AIM: To detect proteomic differences in tears between adenoid cystic carcinoma(ACC) and pleomorphic adenoma(PA).·METHODS: Tear samples were collected from 4 patients with ACC, 5 with PA, and 4 control cases. Label-free analysis and parallel reaction monitoring(PRM) were used to screen and validate the tear proteome. Gene Ontology(GO) annotation and Kyoto Encyclopedia of Genes and Genomes(KEGG) were conducted for bioinformatics analysis.·RESULTS: In total, 1059 proteins in tear samples were identified by label-free analysis. Between ACC and PA, 415 differentially expressed proteins were detected. Based on the GO annotation, enzyme regulator activity and serinetype endopeptidase inhibitor activity in the molecular function category, blood microparticle and extracellular matrix in the cellular component category, and response to nutrient levels in the biological process category were most predominant. By KEGG pathway annotation, the different proteins between ACC and PA mainly par ticipated in complement and coagulation cascades, amoebiasis, African trypanosomiasis and cholesterol metabolism. Eight proteins with mostly significant differences were verified by PRM, and five proteins with more than 10-fold increases in ACC compared with PA, including integrin β, α-2-macroglobulin, epididymal secretory sperm binding protein Li 78p, RAB5C, and complement C5, were identified.·CONCLUSION: The combined tools of label-free analysis and PRM are very effective and efficient, especially for samples such as tears. Some proteomic dif ferences in tears between ACC and PA are identified and these protein candidates may be specific biomarkers for future exploration.

Endoscopic diagnosis of sessile serrated adenoma/polyp with and without dysplasia/carcinoma

Sessile serrated adenoma/polyps(SSA/Ps) are early precursor lesions in the serrated neoplasia pathway, which results in colorectal carcinomas with BRAF mutations, methylation for DNA repair genes, a Cp G island methylator phenotype, and high levels of microsatellite instability. Some of these lesions can rapidly become dysplastic or invasive carcinomas that exhibit high lymphatic invasion and lymph node metastasis potentials. Detecting serrated lesions, including SSA/Ps with and without dysplasia/carcinoma, is critical, but SSA/Ps can be difficult to detect, are inconsistently identified by endoscopists and pathologists, and are often incompletely resected. Therefore, SSA/Ps are considered to be major contributors to "interval cancers". If colonoscopists can identify the specific endoscopic characteristics of SSA/Ps, their detection and the effectiveness of colonoscopy may improve. Here, the endoscopic features of SSA/Ps with and without dysplasia/carcinoma, including the characteristics determined using magnifying endoscopy, are reviewed in the context of previous reports. Endoscopically, these subtle polyps are like hyperplastic polyps, because they are slightly elevated and pale. Unlike hyperplastic polyps, SSA/Ps are usually larger than 5 mm, frequently covered by a thin layer called the ‘‘mucus cap'', and are more commonly located in the proximal colon. Magnifying narrow-band imaging findings, which include dark spots inside the crypts and varicose microvascular vessels, in addition to the type II-open pit patterns detected using magnifying chromoendoscopy, effectively differentiate SSA/Ps from hyperplastic polyps. The lesions' endoscopic characteristics, which include their(semi)pedunculated morphologies, double elevations, central depressions, and reddishness, and the use of magnifying endoscopy, might help to detect dysplasia/carcinoma within SSA/Ps. Greater awareness may promote further research into improving the detection, identification, and complete resection rates of SSA/Ps with and without dysplasia/carcinoma and reduce the interval cancer rates.

Disparities of conjugating protective enzyme activities in the colon of patients with adenomas and carcinomas

AIM:To investigate the metabolic enzymatic capacity of the colon mucosa to detoxify noxious carcinogenic compounds.METHODS:We investigated the activity of 2 conjugating enzymes-the microsomal uridine glucuronosyltransferase(UGT)and the cytosomal glutathione S-transferase(GST)in the uninvolved mucosa of the colon transversum and sigmoideum in patients with adenomatous polyps and colorectal cancer.Biopsies were taken from the mucosa during colonoscopies which were done for clinical(diagnostic)reasons.After storage,the biopsy material was homogenized and after differential centrifugation the enzyme assays were performed with 4-nitrophenol(UGT)and 1-chloro 2,4-dinitrobenzene(GST)as substrates.RESULTS:About 48 patients were included of which28 had adenomas and 20 had colorectal carcinomas confirmed by histopathology.Enzyme activities were expressed as nmol/mg per minute protein for the GST and as pmol/mg per minute protein for the UGT.Analysis of variance(F-test)indicated that both enzymes were more widely distributed in adenoma than in cancer patients.The means±SD were smaller for cancer patients:GST for adenomas 268±152 vs 241±69 for carcinomas and UGT for adenomas 197±200 vs 150±86 for carcinomas.CONCLUSION:Compared to patients with adenomatous colon polyps those with colorectal carcinoma exhibited a lower capacity of detoxifying enzyme metabolism and their activities clustered over a smaller range.

Coexistence of small cell neuroendocrine carcinoma and villous adenoma in the ampulla of Vater

Small cell neuroendocrine carcinoma of the ampulla of Vater is extremely rare and different from the common ampullary adenocarcinoma. The ampullary adenoma is also a rare neoplasm and has the potential to develop an adenocarcinoma. Their coexistence has been rarely reported in the literature. We herein describe an unusual case of a small cell neuroendocrine carcinoma associated with a villous adenoma in the ampulla of Vater with emphasis on computed tomography (CT) and histopathological findings. We also discuss their clinical, histopathological and radiological features as well as possible histogenesis.

Coexisting tubular adenoma with a neuroendocrine carcinoma of colon allowing early surgical intervention and implicating a shared stem cell origin

High-grade colonic neuroendocrine carcinomas (NECs) are uncommon but extremely aggressive. Their co-existence with tubular adenoma (TA) has rarely been reported. We present a 68-year-old man who was found on routine colonoscopy to have multiple colorectal TAs and an ulcerated lesion in the ascending colon. Microscopically, a poorly-differentiated invasive carcinoma juxtaposed with a TA was identified. Differential diagnosis included a poorly-differentiated adenocarcinoma, medullary carcinoma, high-grade NEC and lymphoma. The immunohistochemical profile showed positive staining for keratins, synaptophysin and chromogranin but negative for LCA, CDX2, CK7, CK20, TTF-1 and PSA, supporting the NEC diagnosis. Upon subsequent laparoscopic right hemicolectomy, the tumor was identified as a 3.0 cm umbilicated and ulcerated mass with an adjacent TA. Both TA and NEC showed positive staining for β-catenin indicating a shared colonic origin. The mitotic counts (77/10 high power fields) and a high proliferation rate (75% by Ki-67) corroborated a high-grade stratification. Mutational analysis indicated a wild-type BRAF and KRAS with mismatch repair proficiency. The AJCC (7th edition) pathologic stage is pT3, pN0, pMx. The patient received adjuvant chemotherapy with cisplatin/etoposides for three cycles and will be followed up for a year to detect recurrence. In conclusion, the co-existence of TA with high grade-NEC in our case allowed early identification and intervention of the otherwise asymptomatic but aggressive tumor. In addition, the finding of a high-grade NEC within a large TA in this case suggests a link between the two lesions and could represent a shared stem cell origin.

ELEVATED SOLUBLE EPIDERMAL GROWTH FACTOR RECEPTOR LEVEL IN PITUITARY ADENOMA AND CARCINOMA

To investigate effect of the soluble epidermal growth factor receptor (sEGFR/sErbB1) level in the periph-eral blood in development, invasiveness, apoplexy of each type of pituitary tumor. Methods The sEGFR level was determined in peripheral serum from 190 patients with pituitary diseases by enzyme linked immunosobent assay. The sEGFR levels were measured in 10 pituitary Rathke’s pouch, 18 pituitary hyperplasia, 161 pituitary adenomas including 30 microadenomas, 83 large adenomas, 48 giant adenomas, 1 pituitary carcinoma, and 28 hea-lthy controls. Results In the patients with pituitary hyperplasia, microadenoma, large adenoma, giant adenoma, and pituitary carci-noma, the sEGFR level was 188.92 ± 32.62, 209.83 ± 19.01, 333.20 ± 69.33, 405.85 ± 37.38, and 617.45 fmol/mL indepen-dently. They were all significantly higher than patients with pituitary Rathke’s pouch (156.78 ± 18.24 fmol/mL, P < 0.001) and healthy control group (159.11 ± 40.50 fmol/mL, P < 0.05). The sEGFR level in pituitary carcinoma was higher than pi-tuitary adenoma. In patients with pituitary adenoma, the sEGFR level was positive correlated to the size of pituitary adeno-mas (r = 0.998), the significant difference was observed for the sEGFR level in each group of the patients with pituitary adenomas (P < 0.001). Furthermore, in patients with pituitary ACTH-secreting microadenomas, the serum sEGFR levels in invasiveness (295.00 ± 77.80 fmol/mL) was higher than that in non-invasiveness (210.60 ± 16.4 fmol/mL, P < 0.05). In pati-ents with pituitary ACTH-secreting, PRL-secreting, GH-secreting, and non-functioning large adenomas, the serum sEGFR levels in invasiveness (407.86 ± 28.50, 399.25 ± 30.10, 386.00 ± 13.08, and 369.25 ± 36.70 fmol/mL) was higher than that in non-invasiveness (335.25 ± 63.49, 300.64 ± 47.57, 297.00 ± 61.93, and 269.30 ± 25.68 fmol/mL) respectively (P < 0.05). In patients with invasive pituitary PRL-secreting, GH-secreting, and non-functioning giant adenomas, the serum sEGFR levels not significantly different in between invasiveness (417.50 ± 35.94, 409.50 ± 69.14, and 417.50 ± 44.13 fmol/mL) and non-invasiveness (386.00 ± 49.64, 417.50 ± 44.03, and 409.51 ± 35.17 fmol/mL) (P > 0.05). In patients with pituitary large adeno-mas, the sEGFR levels in pituitary apoplexy (377.48 ± 39.18 fmol/mL) was higher than that in non-pituitary apoplexy (343.18 ± 68.17 fmol/mL, P > 0.05). Conclusions The increased level of peripheral serum sEGFR is concomitant with development, proliferous size of the adenomas in patients with pituitary adenomas. In addition, the elevated levels of serum sEGFR occur in pituitary apoplexy as clinical active tumors, and the non-invasive ACTH secreting adenomas. The sEGFR levels could be differen-tiated helpfully between pituitary adenomas and non-pituitary adenomas. These data suggest that serum sEGFR could be as a referable marker of the size and activation of proliferation in pituitary adenoma.

Evidence for colorectal sarcomatoid carcinoma arising from tubulovillous adenoma

Sarcomatoid carcinomas of the colorectum are rare tu- mors that display both malignant epithelial and stromal components. Clinically, they are aggressive tumors with early metastasis. Due to their infrequent occurrence, the pathogenesis is poorly understood. We report a case of a 52-year-old woman who presented with a rectal mass and intermittent hematochezia. Superficial biopsies during colonoscopy revealed a tubulovillous adenoma with high-grade dysplasia. Endoscopic ultra- sonography confirmed an invasive nature of the mass, and deeper biopsies revealed the presence of neoplasm with mixed histological components. The surgically- excised specimen demonstrated the presence of poorly differentiated spindle cells underneath the tubulovillous adenoma and an intermediate stage of invasive adeno- carcinoma. Based on the histological appearance and immunohistochemical studies, a diagnosis of sarcoma- toid carcinoma was made. Only nine cases of sarcoma- toid carcinomas of the colorectum have been reported to date. As a result, the terminology and pathogenesis of sarcomatoid carcinoma remain speculative. To the best of our knowledge, this is the first report of co- existence of sarcomatoid carcinoma and invasive ad- enocarcinoma with tubulovillous adenoma; all stages represented within the same tumor. This observation supports the "monoclonal theory" of pathogenesis with an adenoma-sarcoma progression with or without an intermediate stage of carcinoma.

Immunohistochemical features of carcinoma ex pleomorphic adenoma and pleomorphic adenoma in the lacrimal gland

AIM: To investigate C-myc, Ki-67, pan-cytokeratin, and vimentin immunohistochemical features of carcinoma ex pleomorphic adenoma(Ca-ex-PA) and pleomorphic adenoma(PA) in the lacrimal gland in order to find some clues in the differential diagnosis between them.METHODS: We reviewed microscopic slides and clinical records of 64 cases of PA and 15 cases of Ca-ex-PA in the lacrimal gland. Immunohistochemical antibodies for C-myc, Ki-67, pan-cytokeratin, and vimentin were employed.RESULTS: Median age of PA was 43.2 y(from 21 to 75). The 35 patients(54.7%) were male and 29 patients(45.3%) were female. For the PAs, the average positivity of C-myc was 4.6%;the average proliferation index of Ki-67 was 3.2%;pan-cytokeratin was positive in ductal cells, and vimentin was positive in myoepithelial cells. Median age of Ca-ex-PA was 54.3 y(from 26 to 76). There were 7 male patients(46.7%) and 8 female patients(53.3%). Among 15 Ca-ex-PAs, there were 6 myoepithelial carcinomas, 4 adenocarcinomas, 3 epithelial-myoepithelial carcinomas, and 2 squamous cell carcinomas. For the Ca-ex-PAs, the average positivity of C-myc was 36.4%;the average proliferation index of Ki-67 was 29.2%;pan-cytokeratin was positive in all cases, and vimentin was positive in myoepithelial carcinomas.CONCLUSION: PA has a lower positivity of C-myc and Ki-67, while Ca-ex-PA had a higher positivity of these two biomarkers. These four biomarkers as a set could provide valuable clues in the differential diagnosis between Ca-exPA and PA. Our results indicate that the activation of C-myc could play an important role in the pathogenesis of Ca-exPA and PA.

Carcinoma ex pleomorphic adenoma of the trachea: A case report

BACKGROUND Carcinoma ex pleomorphic adenoma (CXPA) is defined as a malignant salivary gland tumor arising from a primary or recurrent pleomorphic adenoma.Only three cases of CXPA of the trachea have been reported in the literature.CASE SUMMARY We report a case of tracheal CXPA in a 55-year-old woman,who presented with a more than 3-mo history of progressive dyspnea.Computed tomography of the neck and thorax revealed an inhomogeneous,broad-based lesion arising from the tracheal wall on the right side.Endoscopy revealed a subglottic neoplasm causing up to 90% luminal stenosis.The tumor was resected using a highfrequency electrosurgical snare combined with argon plasma coagulation.Histopathology and immunohistochemistry revealed that the tumor was a CXPA of the trachea.CONCLUSION We report the fourth case of tracheal CXPA,and present the first instance of resection of CXPA using high-frequency electrosurgical snare and laser ablation.We also discuss the pathogenesis,diagnosis,histopathology,and systemic therapy of this rare disease.

Carcinoma ex pleomorphic adenoma of the sublingual gland:a case report

We report a case of carcinoma ex pleomorphic adenoma of a sublingual gland in a 70-year-old man.Under a clinical diagnosis of benign salivary gland tumor,excision of the mass with the sublingual salivary gland in an en bloc fashion via an intraoral approach was performed.Histopathologically,there was a rupture of the fibrous capsule and diffuse cell-rich sheets composed of myoepithelial cells with round nuclei were also seen.Immunohistochemically,the cells that composed of cell rich sheets were positive to smooth muscle actin.Final diagnosis of myoepithelial carcinoma ex pleomorphic adenoma was made.

Pleomorphic adenoma of the left lacrimal gland recurred and transformed into myoepithelial carcinoma after multiple operations:A case report

BACKGROUND Myoepithelial carcinoma(MC)is a clinically rare malignancy,there is controversy regarding its etiology and its biological behavior is not fully elucidated.Extensive surgical resection is the main treatment method.We describe a case of pleomorphic adenoma(PA)with multiple postoperative recurrences after malignant transformation,and the history of the disease in this patient was more than 20 years.Complete resection during the first surgery of PA and long-term postoperative follow-up is necessary.CASE SUMMARY A 34-year-old male with PA and a history of 5 postoperative recurrences over 21 years,each surgically removed,presented 15 d ago with headache,nasal congestion,protrusion of the right eyeball and loss of vision in the right eye,with progressively worsening symptoms.The patient underwent surgery,and MC was confirmed by pathology examination.A small PA component was locally visible under light microscope.The patient had a recurrence of the tumor 2 mo after surgery and underwent surgical resection.CONCLUSION During the first operation for PA,care should be taken not to rupture the envelope to prevent tumor cell implantation,and when complete resection is not possible due to the anatomical site,postoperative radiotherapy is necessary to control the lesion and prevent infiltration and malignant transformation of the tumor to MC.Computed tomography and magnetic resonance imaging is important for establishing diagnosis and developing a treatment plan.

Pleomorphic Adenoma with Exuberant Squamous Metaplasia and Keratin Cysts Mimicking Squamous Cell Carcinoma in Minor Salivary Gland

Salivary gland tumors, the second most common neoplasm of the mouth after squamous cell carcinoma, account for a significant proportion of tumors of the oral and perioral regions. An unusual case of adenoma presented as a solitary intraoral palatine mass in a 32-year-old woman is reported here. The tumor was interpreted as an unusual pleomorphic adenoma because of the presence of exuberant squamous metaplasia, clinically mimicking squamous cell carcinoma. Moreover, the presence of cystic structures filled with keratinized material was also salient feature. Pleomorphic adenomas may occasionally display focal squamous metaplastic changes;when extensive, it presents the potential for misinterpretation of the histology as indicative of well-differentiated squamous cell carcinoma.

Effective chemotherapy for submandibular gland carcinoma ex pleomorphic adenoma with lung metastasis after radiotherapy: A case report

BACKGROUND Only a few cases of carcinoma ex pleomorphic adenoma arising in the submandibular gland have ever been reported,all with a poor prognosis. The standard treatment for salivary gland carcinoma ex pleomorphic adenoma is surgical resection combined with postoperative radiotherapy,but the necessity of chemotherapy as well as the most appropriate treatment regimen for patients with distant metastasis after radiotherapy remains controversial.CASE SUMMARY This report presents the case of a 73-year-old woman who suffered submandibular gland carcinoma ex pleomorphic adenoma. She accepted surgery to remove the mass; she was found to have lung metastasis after radiotherapy.Her condition was controlled by chemotherapy with liposomal doxorubicin plus cisplatin.CONCLUSION The positive clinical outcome in the patient reveals that this chemotherapy regimen may be an alternative treatment for such a condition.

Synchronous parathyroid adenoma, papillary thyroid carcinoma and thyroid adenoma in pregnancy: A case report

BACKGROUND There is a common pathologic relationship between parathyroid adenoma and thyroid cancer,but this relationship is infrequent in pregnant patients with primary hyperparathyroidism(PHPT).CASE SUMMARY A 27-year-old gravida 1 woman was transferred to our hospital at 16 wk of pregnancy.She was diagnosed with parathyroidoma,papillary carcinoma of the thyroid and thyroid adenoma and was managed surgically.Both the mother and the newborn were stable after a right inferior parathyroidectomy and total thyroidectomy.The healthy infant was delivered at the 40th week of pregnancy.The mother had no evidence of recurrence over three years of follow-up.CONCLUSION Awareness of concomitant PHPT and thyroid diseases may help in managing patients with a history of hypercalcemia.

Role of positron emission tomography in primary carcinoma ex pleomorphic adenoma of the bronchus: A case report

BACKGROUND Primary carcinoma ex pleomorphic adenoma arising from the tracheobronchial system is rarely reported.CASE SUMMARY We present a patient with primary carcinoma ex pleomorphic adenoma of the bronchus and review the associated literature for further comparison,including age,clinical manifestations,and diagnostic process.This patient had no history of neoplasms of the salivary gland.CONCLUSION Positron emission tomography played an important role in the staging work-up of primary carcinoma of ex pleomorphic adenoma.Long-term follow-up was necessary for further prognosis analysis.

Gonadotrophin-releasing hormone agonist-induced pituitary adenoma apoplexy and casual finding of a parathyroid carcinoma:A case report and review of literature

BACKGROUND Pituitary apoplexy represents one of the most serious,life threatening endocrine emergencies that requires immediate management.Gonadotropin-releasing hormone agonist(GnRHa)can induce pituitary apoplexy in those patients who have insidious pituitary adenoma coincidentally.CASE SUMMARY A 46-year-old woman,with a history of hypertension and menorrhagia was transferred to our hospital from a secondary care hospital after complaints of headache and vomiting,with loss of consciousness 5 min after an injection of GnRHa.The drug was prescribed by her gynecologist due to the presence of uterine myomas.The clinical neurological examination revealed right cranial nerve III palsy,ptosis and movement limitation of the right eye.Our first clinical consideration was a pituitary apoplexy.Blood hormonal analysis revealed mild hyperprolactinemia and high follicle stimulating hormone level;PTH and calcium was high with glomerular filtration rate mildly to moderately decrease.A computed tomography scan,revealed an enlarged pituitary gland(3.5 cm)impinging upon the optic chiasm with bone involvement of the sella.Following contrast media administration,the lesion showed homogeneous enhancement with high-density focus that suggests hemorrhagic infarction of the tumor.Transsphenoidal endoscopic surgery was perfomed and adenomatous tissue was removed.Immunohistochemistry was positive for luteinizing hormone(LH)and follicular-stimulating hormone(FSH).A solid hypoechoic nodule(14 mm x 13 mm x 16 mm)was found in the caudal portion of the right thyroid lobe after a parathyroid ultrasound.A genetic test of Multiple Endocrine Neoplasia type 1(MEN1)was negative.A right lower parathyroidectomy was performed and the pathologic study showed the presence of an encapsulated parathyroid carcinoma of 1.5 cm.A MEN type 4 genetic test was performed result was negative.CONCLUSION This case demonstrates an uncommon complication of GnRH agonist therapy in the setting of a pituitary macroadenoma and the casual finding of parathyroid carcinoma.It also highlights the importance of suspecting the presence of a multiple endocrine neoplasia syndrome and to carry out relevant genetic studies.

Parathyroid carcinoma:Three case reports

BACKGROUND Parathyroid carcinoma(PC)is a rare,slow-growing malignant tumor and a rare cause of primary hyperfunctioning of the parathyroid,with a highly variable clinical course,depending on the aggressiveness of the individual tumor and the degree of hypercalcemia.CASE SUMMARY The aim of this report is to summarize the diagnosis and treatment of three cases of PC and to review and conclude aspects regarding the three collected cases with reference to other relevant cases to explore the value of ultrasound in the diagnosis of PC.All three patients had hypercalcemia,consisting of a high serum calcium level and a high level of parathyroid hormone that was>2-fold(even>30-fold)of the normal upper limit.The ultrasonographic findings of the parathyroid gland showed that the glands were all>30 mm,and the internal echo was uneven.All patients underwent surgery.PC in three cases was confirmed by routine histopathology and immunohistochemistry.CONCLUSION As clinical signs and laboratory results are nonspecific,it is difficult to diagnose PC preoperatively,so imaging examinations are often needed.

甲状旁腺癌与甲状旁腺腺瘤的超声鉴别诊断

目的:分析超声鉴别甲状旁腺癌和甲状旁腺腺瘤的价值。方法:回顾性分析2016年1月至2021年12月于郑州大学第一附属医院经手术切除明确诊断的甲状旁腺肿瘤患者的临床资料,其中甲状旁腺癌21例,腺瘤27例。比较两组的超声征象。结果:甲状旁腺癌组男性患者比例高于腺瘤组,右下病变占比低于腺瘤组,超声回声为囊实性、血流为3级、有钙化的患者比例高于腺瘤组(P<0.05)。超声对甲状旁腺癌和腺瘤鉴别诊断的敏感度为85.71%,特异度为74.07%,约登指数为0.60。结论:超声检查对甲状旁腺癌及腺瘤具有一定的鉴别诊断价值。

高通量RNA测序技术分析结肠腺瘤转变为结肠癌的关键基因

目的:通过RNA测序技术分析比较正常结肠组织、结肠腺瘤及癌组织中基因表达谱的差异,识别从结肠腺瘤发展为结肠癌过程中的关键基因,并探究其潜在机制。方法:对同一患者的正常结肠组织、腺瘤及癌组织进行RNA测序分析,识别在结肠癌中显著表达、腺瘤组织中不显著表达的差异基因并进行GO和KEGG功能富集分析。结果:在结肠癌中显著表达、腺瘤组织中不显著表达的差异基因有4307个,其中5个差异最大的基因是EPYC、LINC01614、MCEMP1、NOX4、CLEC5A。对这些基因进行GO和KEGG功能富集分析发现,主要富集于生物过程调节、细胞过程调节、蛋白质结合等生物学过程和癌症通路、PI3K-Akt信号通路、MAPK信号通路等。结论:EPYC、LINC01614、MCEMP1、NOX4、CLEC5A等多个基因参与结肠腺瘤到结肠癌发展的过程,这些基因有望成为结直肠癌的治疗靶点。