[Clinical features and prognostic analysis of checkpoint inhibitor pneumonitis in patients with non-small cell lung cancer].

Objective: To describe the clinical characteristics of patients with non-small cell lung cancer (NSCLC) who developed checkpoint inhibitor pneumonitis (CIP) and to explore potential prognostic factors. Methods: NSCLC patients who were complicated with CIP after immune checkpoint inhibitors (ICIs) therapy in our institute were enrolled in this study from 1 July 2018 to 30 November 2022. Clinical data of NSCLC-CIP patients were collected, including clinical and radiological features and their outcomes. Results: Among the 70 enrolled NSCLC-CIP patients, there were 57 males (81%) and 13 females (19%). The mean age at the diagnosis of CIP was (65.2±6.3) years. There were 46 smokers (66%), 26 patients (37%) with emphysema, 19 patients (27%) with previous interstitial lung disease, and 26 patients (37%) with a history of thoracic radiation. The mean interval from the first application of checkpoint inhibitor to the onset of CIP was (122.7±106.9) days (range: 2-458 days). The main chest CT manifestations were coincided with non-specific interstitial pneumonia (NSIP) pattern and organizing pneumonia (OP) pattern. Most patients had grade 2 (21 cases) or grade 3 (34 cases) CIP. Seventeen patients had been concurrent with other immune-related adverse events such as rash, hepatitis, colitis, and thyroiditis. Half of the enrolled patients (36 patients/51%) had fever, and most patients had elevated C-reactive protein (52 patients/72%) and all patients had elevated erythrocyte sedimentation rate (70 patients/100%). Serum lactate dehydrogenase was elevated in 34 CIP patients. Prednisone≥1 mg·kg-1·d-1 (or equivalent) was the most commonly used initial treatment in CIP patients (50 patients/71.4%). Complications with pulmonary infections (OR=4.44, P=0.03), use of anti-fungal drugs (OR=5.10, P=0.03) or therapeutic dose of sulfamethoxazole (OR=4.86, P=0.04), longer duration of prednisone≥1 mg·kg-1·d-1 (or equivalent) (Z=-2.33, P=0.02) were probable potential risk factors for poor prognosis. Conclusions: Older males with smoking history might be predisposed to develop NSCLC-CIPs after ICIs therapy. NSIP pattern and OP pattern were common chest CT manifestations. Complications with pulmonary infections (especially fungal infection or Pneumocystis jirovecii pneumonia), longer duration, longer duration of high-dose corticosteroids were likely potential risk factors for poor prognosis.

[Retrospective analysis of BI-RADS 4 and 5 lesions additionally detected by breast MRI].

Objectives: To establish a newly-designed scoring system for breast imaging-reporting and data system (BI-RADS) 4 and 5 breast lesions only visible on MRI, and to examine their clinical pathway of biopsy. Methods: The BI-RADS 4 and 5 breast lesions only visible on MRI but not suspected on mammograms or ultrasound between June 2007 and December 2021 at Beijing Hospital were evaluated retrospectively. A total of 209 lesions from 184 patients were finally included. All patients were female, aged (50±11) years (range: 27 to 76 years). All lesions were confirmed by pathology and divided into malignancy and non-malignancy. The lesions were divided into mass and non-mass type using BI-RADS. The receiver operator characteristic (ROC) curve was used to evaluate the diagnostic performance of the new scoring system. Four types of pathology-obtaining pathway were used: biopsy guided by second-look ultrasound, local excision guided by lesion position information on MRI, intraductal lesion excision guided by methylene blue stain and mastectomy. The data between mass and non-mass lesions were compared by Mann-Whitney U test, χ2 test or Fisher exact test,respectively. Results: There were 124 malignant and 85 non-malignant lesions, while 100 mass and 109 non-mass lessions. The sizes between mass and non-mass lesions showed significant difference(M(IQR)) (7.0 (3.0) mm vs. 25.0 (25.0) mm, U=568.000, P<0.01) and their BI-RADS diagnostic accuracy had no significant difference (53.0% (53/100) vs. 65.1% (71/109), χ2=3.184, P=0.074). The areas under ROC curve of the new scoring system for evaluating mass and non-mass were 0.841 and 0.802, respectively. When taking Score 3 as threshold, it can potentially avoid 14.0% (14/100) and 4.6% (5/109) of biopsies in mass and non-mass, respectively. As to pathway of obtaining pathology, second-look ultrasound succeeded more easily in mass than non-mass (41.0% (41/100) vs.26.6% (29/109), χ2=4.851, P=0.028). More MRI-guided local excisions were performed in non-mass than mass (52.3% (57/109) vs. 34.0% (34/100), χ2=7.100, P=0.008). Conclusions: For suspicious breast lesions detected by MRI but not suspected on X-ray or ultrasound, the new scoring system can further increase diagnostic accuracy. The second-look ultrasound plays an important role for obtaining pathology, especially for mass-type lesion.

[A multicenter study on childhood Hodgkin lymphoma treated with HL-2013 regimen in China].

Objective: To evaluate the efficacy of the Hodgkin lymphoma (HL)-2013 regimen in the treatment of children with HL, and to investigate the prognostic factors of childhood HL. Methods: Clinical data of 145 children (aged ≤18 years) with newly diagnosed HL, treated with HL-2013 regimen in 8 tertiary referral centers for childhood cancer from August 2011 to April 2021 were analyzed retrospectively. All the diagnosis were confirmed by histopathological morphology and immunohistochemical examination. The clinical characteristics and treatment outcomes were summarized, and the patients were divided into different groups according to clinical characteristics. Kaplan-Meier method was used for survival analysis, and the comparison of survival rates between groups was performed with Log-rank test. Results: Of the 145 cases, there were 115 males and 30 females, the age at diagnosis was 7.9 (5.8, 10.6) years. Cervical lymph node enlargement (114 cases, 78.6%) was the common symptom of the disease, and 57 patients (39.3%) were accompanied by large masses. The most common pathological classification was mixed cell type (93 cases, 64.1%). According to the Ann Arbor staging system, there were 9 cases of stage Ⅰ, 62 cases of stage Ⅱ, 45 cases of stage Ⅲ, 29 cases of stage Ⅳ. According to the risk stratification: there were 14 cases of low-risk group, 76 cases of medium-risk group and 55 cases of high-risk group. Of all patients, 68 cases (46.9%) achieved an early complete remission (CR) after 2 courses of chemotherapy, and the CR rate was 93.8% (136/145) after first-line treatment. Disease recurrence or progression occurred in 22 cases (15.2%). Of all patients, 125 cases survived, 6 cases died and 14 cases were lost to follow-up. Among the survived cases, 123 cases were continuously at CR state,and the follow-up time was 55 (40, 76) months. The 5-year overall survival (OS) and event free survival (EFS) rates were (95.3±1.9)% and (84.2±3.0)% for the entire group, respectively. 5-year OS and EFS rates for patients with stage Ⅲ-Ⅳ were both lower than those for patients with stage Ⅰ-Ⅱ (χ2=6.28 and 7.58, both P<0.05), the 5-year OS and EFS rates for patients in high-risk group were both lower than those for patients in low-risk and medium-risk group (χ2=10.93, 7.79, both P<0.05). The 5-year OS rates for the patient with early CR and without early CR were 100.0% and (90.9±3.6)% (χ2=5.77, P=0.016). EFS rates for the patient with early CR (68 cases) and without early CR (77 cases) were (93.8±3.0)% and (75.8±5.0)% (χ2=8.78, P=0.003). Conclusions: HL-2013 regimen is significantly effective in the treatment of pediatric HL. However, the patients in high-risk group and those without early CR are prone to disease recurrence or progression. Stage Ⅲ-Ⅳ and without early CR were associated with worse prognosis.

[Diagnostic value of surgical lung biopsies for diffuse parenchymal lung disease: the change of disease spectrum in the past 28 years in a single institution in China].

Objective: To investigate the changes of disease spectrum in diffuse parenchymal lung disease (DPLD) diagnosed by surgical lung biopsy, and to explore the diagnostic value of surgical lung biopsy in DPLD. Methods: Four hundred and fifty-five consecutive DPLD patients, who underwent surgical lung biopsy in Peking Union Medical College Hospital during the past 28 years, were analyzed retrospectively. Results: There were 211 males and 244 females. The average age at biopsy was (45±14) years. Four hundred and eleven cases (90.3%) were diagnosed by pathologic findings. Four hundred and forty-one cases (96.9%) were diagnosed by clinical-radiologic-pathologic multidisciplinary discussion. The 30-day mortality and 90-day mortality were 2.4% and 3.3% respectively. The disease spectrum included interstitial pneumonia in 209 cases (45.9%) (nonspecific interstitial pneumonia in 105 cases, usual interstitial pneumonia in 33 cases), other miscellaneous DPLD in 166 cases (36.5%) (including hypersensitivity pneumonitis in 49 cases), tumor in 39 cases (8.6%), and infectious diseases in 27 cases (5.9%). In the three consecutive periods (1993-2002, 2003-2012 and 2013-2020), the number of biopsies was 76 (16.7%), 297 (65.3%) and 82 (18%) respectively. The disease spectrum changes over time: in the above three periods, the percentage of interstitial pneumonia in DPLD was 68.4%, 45.1% and 28%, other miscellaneous DPLDs were 22.4%, 39.4% and 39.0%, the tumors were 2.6%, 7.4% and 18.3%, the infectious diseases were 5.3%, 5.1% and 9.8%. Conclusions: This study presented the changes of disease spectrum in DPLD diagnosed by surgical lung biopsy through single center real-world data, reflecting the progress of clinicians' understanding of DPLD and interstitial pneumonia. Surgical lung biopsy is still valuable for some difficult and complicated DPLD cases.

[Cystic echinococcosis of the abdominal wall: a case report].

Cystic echinococcosis of the abdominal wall is relatively rare. Here, a 54-year-old patient with cystic echinococcosis of the abdominal wall was reported, who was admitted to hospital due to presence of abdominal mass for one year complicated by skin ulceration of the mass for 5 days. The case was initially diagnosed as cystic echinococcosis of the abdominal wall and given sub-abdominal echinococcosis cystectomy. Post-surgical pathological examinations revealed cystic echinococcosis (type of a single locule and multiple daughter cysts). This case report aimed to provide insights into the clinical diagnosis and treatment of cystic echinococcosis of the abdominal wall.

[Primary liver cancer complicated by hepatic cystic echinococcosis: a case report].

A primary liver cancer patient complicated by hepatic cystic echinococcosis was reported. The case was admitted to the hospital due to intermittent upper abdominal discomfort for more than half a month, and an auxiliary examination revealed primary liver cancer complicated by hepatic cystic echinococcosis. Then, hepatic artery infusion and chemoembolization was performed, and no treatment was given to cystic echinococcosis lesions. Following treatment, the patient had remarkable improvements in the liver functions.

[The incidence and related factors of coronary events among 40-49 years old patients undergoing cardiac thoracotomy without preoperative CAG].

Objective: To investigate the long-term incidence of coronary events and related factors in patients undergoing cardiac thoracotomy without preoperative coronary angiography (CAG). Methods: This was a retrospective study. The clinical data of patients, aged between 40 and 49 years old, who underwent cardiothoracic surgery, including heart valve surgery, congenital heart disease surgery, cardio great vessels surgery and other non-coronary artery disease (CAD) surgery, in Nanjing Drum Tower Hospital from December 2009 to May 2017, were enrolled. Patients with suspected CAD, or patients with coronary CTA defined calcified coronary arteries received CAG examination prior operation, and the rest patients did not receive routine CAG examinations. The patients who did not receive routine CAG examinations were followed up by telephone. The primary endpoints include death related to coronary arteries, coronary artery bypass graft (CABG) or percutaneous coronary intervention (PCI). The secondary endpoints include the new onset angina, clinically diagnosed CAD or receiving the first and second prevention for CAD. The other outcome events included cardiac death and all-cause mortality. The primary and secondary endpoints were all regarded as coronary events. The patients without preoperative CAG were divided into two groups: the positive group and the negative group, according to the incidence of coronary events during follow-up. Clinical data were compared between the two groups. Results: A total of 952 patients were included. The age was (45.2±2.7) years old, 406(42.65%) patients were male. Preoperative CAG was performed in 73 patients, among whom 9 (12.32%) patients underwent simultaneous CABG. Among the 879 cases who did not undergo coronary angiography before the operation, 18(2.05%) died during perioperative period (hospitalization and within 30 days after discharge). The patients were followed up for (61.6±25.8) months, and 28(3.25%) patients were lost to follow up. During long-term follow up, there were no fatal cases due to severe coronary events and no cases of CABG or PCI. Only 4.41% (38/861) patients had the secondary endpoints, namely the occasional onset of atypical angina. The incidence rate of the long-term coronary events, all-cause mortality and cardiac death were 4.41% (38/861), 1.16% (10/861), 0.46% (4/861) during long-term follow-up. The prevalence of hypertension was significantly higher in positive group than negative group (34.21% (13/38) vs. 20.89% (164/785), P=0.045). Conclusions: It is feasible not to perform preoperative CAG examination for non-CAD patients aged 40-49 years who will undergo cardiac thoracotomy. However, we need to be aware the risk of coronary events in the patients complicating with risk factors of CAD, such as hypertension.

Downregulation of lncRNA SNHG7 inhibits proliferation and invasion of nasopharyngeal carcinoma cells through repressing ROCK1.

Since this article has been suspected of research misconduct and the corresponding authors did not respond to our request to prove originality of data and figures, "Downregulation of lncRNA SNHG7 inhibits proliferation and invasion of nasopharyngeal carcinoma cells through repressing ROCK1, by L. Wang, T. Xu, X. Cui, M. Han, L.-H. Zhou, Z.-X. Wei, Z.-J. Xu, Y. Jiang, published in Eur Rev Med Pharmacol Sci 2019; 23 (14): 6186-6193-DOI: 10.26355/eurrev_201907_18432-PMID: 31364118" has been withdrawn. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/18432.

[The clinical features and prognosis of 32 cases of pulmonary actinomycosis].

Objectives: To describe the clinical features and prognosis of pulmonary actinomycosis in a tertiary Chinese hospital. Methods: We conducted a retrospective analysis of 32 patients diagnosed with pulmonary actinomycosis between January 2013 and December 2019. General characteristics, clinical manifestations, lab data, chest CT imaging, treatment and follow-up information were reviewed and analyzed. Results: This study consisted of 19 males and 13 females, with a mean age of (58±12) years, ranging from 16 to 76 years. There were 26 cases with co-morbidities. Among them, there were 16 cases with pulmonary co-morbidity. Sixteen cases had a smoking history. Eight cases, 5 men and 3 women, with a mean age of (48±8) years, ranging from 41 to 58 years, received thoracic surgery for diagnosis. The remaining 24 cases who did not receive thoracic surgery consisted of 14 males and 8 females, with a mean age of (54±14)years, ranging from 16 to 76 years. Cough (25cases), expectoration (21 cases) and fever (16 cases) were the common clinical manifestations. The erythrocyte sedimentation rate (ESR) ranged from 2 to 114 mm/1 h, with a mean value of (28±31) mm/1 h. The ESR was elevated (>20 mm/1 h) in 15 cases. The C-reactive protein (CRP) ranged from 1 to 116 mg/L, with a mean value of (28±45) mg/L. The CRP was elevated (>8 mg/L) in 16 cases. Localized air-space consolidation (18 cases), pulmonary mass or nodules (16 cases) were the common chest CT manifestations. When compared with non-surgical cases, fever was the sole characteristic that was less common in cases with thoracic surgery (1 case in surgical group vs 11 cases in non-surgical group, P<0.05). Actinomyces spp. was found in 7 cases (87.5%) who received thoracic surgery, in 16 (61.5%) specimens collected through bronchoscopy and in 10 (55.6%) sputum samples of good quality. All of our enrolled cases were administrated with oral antibiotics, and 14 cases were prescribed with intravenous antibiotics initially. Among them, 27 cases were administrated with more than one antibiotic. Penicillin, ampicillin and amoxillin were prescribed for 25 cases. Finally, 30 cases showed improvement or cure in our hospital. Conclusions: Pulmonary actinomycosis tended to develop in aged patients with co-morbidities. Cough, expectoration, fever and localized air-space consolidation were the common clinical and radiological manifestations, respectively. Actinomyces spp. could be found more easily in the surgically resected tissues than other specimens. The prognosis of our enrolled cases was good after treatment with combined antibiotics.

[Whole exome sequencing and analysis of a Chinese family with familial pulmonary sarcoidosis].

Objective: To analyze the clinical features and the results of the whole exome sequencing (WES) of a Chinese family containing both pulmonary sarcoidosis patients and healthy members, and to find potent genes and variants that may be involved in the pathogenesis of sarcoidosis. Methods: Three patients with pulmonary sarcoidosis and 1 healthy member was included from a Chinese Han family in the north of China diagnosed in November 2016, which characterized as 2 consecutive generations including 2 males and 1 female, aged from 23 to 69 years old. The proband is Ⅱ-6. Pulmonary sarcoidosis was diagnosed by clinical features, imaging and pathological findings, and clinical data such as family history were collected. Whole blood samples were taken and WES (Illumina NovaSeq S2) was performed. The pathogenicity analysis and gene annotation analysis were performed by ExAC, SIFT, Polyphenv2, Metascape databases. Results: It was found that 27 genes were highly pathogenic in the database filtering result. After gene annotation analysis, we found that ZC3H12A gene can negatively regulate the differentiation of Th17 cells, which may be involved in the onset of pulmonary sarcoidosis. Sanger sequencing confirmed the c.1361 A>G variant in 3 sarcoidosis patients but normal in healthy member. Conclusions: In patients with familial pulmonary sarcoidosis, the genetic background could regulate immune response which is one of the pathogenic mechanisms of sarcoidosis. The whole exome test and gene ontology analysis showed that Ⅱ-2, Ⅱ-6 and Ⅲ-1 pulmonary sarcoidosis patients in this family were all shared the same variant on ZC3H12A gene, which played a pivotal role in differentiation of Th17 cells and is a potent pathogenesis gene in this Chinese pulmonary sarcoidosis family.

MiR-449b-5p inhibits human glioblastoma cell proliferation by inactivating WNT2B/Wnt/ß-catenin signaling pathway.

OBJECTIVE: As the most common primary brain cancer in adults, glioblastoma shows an extremely poor prognosis. Glioblastoma-associated deaths account for approximately 3%-4% of all malignancy-associated deaths. Numerous microRNAs (miRNAs) play important roles in the occurrence and progression of solid tumors. Herein, identifying functional miRNAs and the central molecular mechanisms would provide novel proofs for the development of targeted cancer therapies. In this study, we described the role of miR-449b-5p in restraining ontogenesis and progression of glioblastoma. PATIENTS AND METHODS: Human glioblastoma tissues were provided by our hospital. Human U251 glioblastoma cells were infected with lentivirus induced miR-449b-5p mimics or miR-449b-5p siRNA. Real-time qPCR was carried out to determine miRNA expression. Tumor spheres formation, MTT assay, and BrdU cell proliferation assay were used to evaluate the growth ability of U251 cells. Western blot assay was performed to measure protein expression. ChIP was used to detect the capacity of ß-catenin to recruit its downstream genes. Dual-Luciferase assay was conducted to detect the ability of miR-449b-5p to regulate the 3'UTR (untranslated regions) of WNT2B. TOP/FOP ratio was used to evaluate the activity of Wnt/ß-catenin signaling pathway. RESULTS: Down-regulation of miR-449b-5p expression was found in both human glioblastoma tissues and cell lines, which was negatively associated with the clinical stages. Up-regulation of miR-449b-5p inhibited tumor spheres formation, cell viability and proliferation ability of glioblastoma cells. The expression levels of WNT2B and nuclear ß-catenin were negatively associated with miR-449b-5p levels in glioblastoma cells. MiR-449b-5p inhibited Wnt/ß-catenin signaling by targeting WNT2B. CONCLUSIONS: MiR-449b-5p acts as a tumor suppressor and retards the oncogenesis of glioblastoma, which is achieved via inactivation of Wnt/ß-catenin signaling by directly targeting WNT2B.

[The clinical experience of pirfenidone based on corticosteroids and immunosuppressant treatment for interstitial pneumonia with autoimmune features].

Objective: To explore the effect of pirfenidone in fibrotic interstitial pneumonia with autoimmune features (IPAF) after treatment with corticosteroids and immunosuppressants. Methods: We conducted a retrospective analysis of 2 adult patients with IPAF in the Peking Union Medical College Hospital. As their fibrotic interstitial lung disease failed to improve with further treatment with corticosteroids and immunosuppressants, they were treated with pirfenidone based on corticosteroids and immunosuppressants. Their clinical, chest radiological data and prognosis were collected and relevant literatures were reviewed. Results: One patient was a 43 year old female, the other was a 53 year old male. IPAF was diagnosed with their classic clinical, serological and radiological features. They were partially responded to corticosteroids and immunosuppressants at the initial period. Pirfenidone was suggested for them as their lung fibrosis was not improved further with immunosuppressive therapy. After 4-5 months treatment with pirfenidone, based on corticosteroids and immunosuppressant administration, their clinical and radiological manifestations improved significantly. Conclusions: Pirfenidone might be a good add-on choice for fibrotic IPAF when the disease did not respond well to corticosteroids and immunosuppressants.

Downregulation of lncRNA SNHG7 inhibits proliferation and invasion of nasopharyngeal carcinoma cells through repressing ROCK1.

OBJECTIVE: Recent studies have revealed the important role of long noncoding RNAs (lncRNAs) in the progression of tumorigenesis. This study aimed to identify the biological function of lncRNA small nucleolar RNA host gene 7 (SNHG7) in the progression of nasopharyngeal carcinoma (NPC). PATIENTS AND METHODS: LncRNA SNHG7 expressions in NPC cell lines and 50 paired NPC tissue samples were detected by Real-time quantitative polymerase chain reaction (RT-qPCR). Transwell assay, wound healing assay and proliferation assay were conducted to evaluate the in vitro function of SNHG7 in NPC cells. Xenograft model was established for determining the in vivo effect of SNHG7 on tumor formation and metastasis of NPC. The underlying mechanism of SNHG7 in mediating the progression of NPC was explored by RT-qPCR and Western blot. RESULTS: SNHG7 expression was remarkably downregulated in NPC tissues compared with that in adjacent normal samples. Knockdown of SNHG7 attenuated proliferation, invasion and migration of NPC cells. Moreover, tumor size and the number of metastatic nodules were reduced in mice administrated with NPC cells transfected with sh-SNHG7. Knockdown of SNHG7 downregulated ROCK1 at mRNA and protein level. Besides, the expression of ROCK1 in tumor tissues was positively correlated to SNHG7 expression. CONCLUSIONS: Knockdown of SNHG7 inhibits migration, invasion and proliferation of NPC cells through downregulating ROCK1, which may offer a new therapeutic intervention for NPC patients.

[The role of histone deacetylases in the pathogenesis of idiopathic pulmonary fibrosis and cryptogenic organizing pneumonia].

Objective: To explore the role of histone deacetylases(HDAC) in the pathogenesis of idiopathic pulmonary fibrosis(IPF) and cryptogenic organizing pneumonia(COP). Methods: Fifteen IPF patients [14 males and 1female, age 40-73 years, mean age (59±8) years] and 15 COP patients [5 males and 10 females, age 41-71 years, mean age (59±8) years] from Peking Union Medical College Hospital were recruited from March 2018 to October 2018. Fifteen healthy donors[4 males and 11females, age 43-70 years, mean age (58±6) years] were enrolled as controls. Peripheral blood mononuclear cells (PBMC) were isolated by density gradient centrifugation. The nuclear and cytoplasmic proteins were extracted by Nuclear Extraction Kit. HDAC activity was measured by fluorimetric method. The relations between HDAC activity and clinical parameters were analyzed with SPSS. Results: The HDAC activity of cytoplasmic protein and nuclear protein from patients with IPF were (724±216) nmol/L and (2 309±708) nmol/L, which were higher than that of health controls (409±105) nmol/L and (1 572±611) nmol/L (P<0.01 for both). So as to the HDAC activity of cytoplasmic protein and nuclear protein from patients with COP which were (718±245) nmol/L and (3 310±1 005) nmol/L (P<0.01 for both).The HDAC activity of nuclear protein from COP patients was higher than that from IPF patients (Z=-2.840, P=0.005). The HDAC activity of nuclear protein was negatively correlated with FEV(1) and D(L)CO in IPF patients (r=-0.574, P=0.025; r=-0.583, P=0.029), and negatively correlated with FVC and TLC in COP patients(r=-0.846, P=0.016; r=-0.900, P=0.015). Conclusion: HDAC may be involved in the pathogenesis of COP and IPF.

Screening and analysis on the differentially expression genes between diploid and autotetraploid watermelon by using of digital gene expression profile / Triagem e análise da expressão diferencial dos genes entre melancia diplóide e autotetraplóide através do perfil de expressão gênica digital

Abstract Synthetic polyploids are key breeding materials for watermelon. Compared with diploid watermelon, the tetraploid watermelon often exhibit wide phenotypic differences and differential gene expression. Digital gene expression (DGE) profile technique was performed in this study to present gene expression patterns in an autotetraploid and its progenitor diploid watermelon, and deferentially expressed genes (DEGs) related to the abiotic and biotic stress were also addressed. Altogether, 4,985 DEGs were obtained in the autotetraploid against its progenitor diploid, and 66.02% DEGs is up-regulated. GO analysis shows that these DEGs mainly distributed in 'metabolic process', 'cell' and 'catalytic activity'. KEGG analysis revealed that these DEGs mainly cover 'metabolic pathways', 'secondary metabolites' and 'ribosome'. Moreover, 134 tolerance related DEGs were identified which cover osmotic adjustment substance, protective enzymes/protein, signaling proteins and pathogenesis-related proteins. This study present the differential expression of stress related genes and global gene expression patterns at background level in autotetraploid watermelons. These new evidences could supplement the molecular theoretical basis for the better resistance after the genome doubling in the gourd family.

Resumo Poliploides sintéticos são materias fundamentais para melhoramento genético da melancia. Comparativamente ao seu homólogo diploide, a melancia tetraploide apresenta amplas diferenças genotípica e fenotípica e diferença de expressão gênica. A expressão gênica digital ou DGE (digital gene expression) foi utilizada neste estudo para representar o perfil de expressão gênica da melancia autotetraploide e seu progenitor diploide e a expressão diferencial de genes relacionados ao estresse biótico e abiótico. Os resultados mostraram que 4.985 DEGs foram observados no organismo autotetraploide, sendo que, deste total, 66.02%foram supra-regulados. A análise de ontologia gênica (GO) mostrou que estes DEGs estão relacionados principalmente com processos metabólicas, célula e atividade catalítica, abrangendo de acordo com a análise de genes e genoma (KEGG) rotas metabólicas, metabolismo secundário e ribossomos. Além disso, 134 genes de defesa foram identificados, abrangendo substâncias de ajuste osmótico, enzimas/proteínas de proteção, proteínas sinalizadoras e proteínas relacionadas à patogênese. Este estudo mostrou a expressão diferencial de genes relacionados ao estresse e o perfil global de expressão gênica de melancia autotetraploide, estes resultados podem complementar, a nível molecular, o entendimento do fator resistência após a duplicação do genoma em cucurbitáceas.