molecular

摘要： In the era of personalized medicine,information on molecular change at the gene level is important for patient care.Such information has been used for disease classification,diagnosis,prognosis,risk stratification,and treatment,which is especially important in cancer patient care.Many molecular tests exist and can be used to detect the molecular changes at gene level.These tests include,but are not limited to,karyotyping,endpoint polymerase chain reaction(PCR),real-time PCR,Sanger sequencing,pyrosequencing,nextgeneration sequencing,and so forth.How to use the right tests for the right patients at the right time is essential for optimal patient outcome.This review puts together some information on molecular testing for acute myeloid leukemia.

摘要： BACKGROUND In the molecular era,the Laurén system is still a cost-effective and widely implemented classification for gastric cancer(GC)and it has been recently associated with clinical,histological and molecular features of these tumors.Despite recent advances in the understanding of the molecular biology of GC,there is a need to develop new prognostic tools for patient stratification in clinical practice.Thus,the identification of easily available prognostic factors in patients with intestinal and diffuse-type tumors can significantly improve risk assessment and patient stratification in GC.AIM To identify clinicopathological differences,risk factors,and to develop costeffective prognostic scores for patients with intestinal and diffuse-type GC.METHODS Retrospective study of all patients undergoing surgery for GC at a tertiary referral center from 2001 to 2019.286 cases met inclusion criteria(intestinal:190,diffuse:96).Clinical data and gross findings were collected.All specimens were reviewed by two independent pathologists and a detailed protocol for histologic evaluation was followed.Five tissue microarrays(TMAs)were constructed and sections of the TMA block were immunostained for HERCEPTEST,MSH2,MSH6,MLH1 and PMS2.Statistical analyses were performed and prognostic scores were developed based on hazard ratios.RESULTS Intestinal and diffuse-type GC showed different epidemiological,clinicopathological and prognostic features.Diffuse tumors were significantly associated with younger age,less symptomatology,flat morphology,deeper invasion,perineural infiltration,advanced stage at diagnosis,administration of adjuvant therapy and poorer prognosis.Intestinal lesions were fungoid or polypoid,showed necrosis,desmoplasia,microsatellite instability and HERCEPTEST positivity and were diagnosed at earlier stages.Tumor depth,desmoplasia,macroscopic type and lymph node involvement were independently related to the Laurén subtype.Furthermore,intestinal and diffuse GC were associated with different risk factors for progression and death.Vascular invasion,perineural infiltration and growth pattern were important prognostic factors in intestinal-type GC.On the contrary,tumor size and necrosis were significant prognosticators in diffuse-type GC.Our recurrence and cancer-specific death scores for patients with intestinal and diffuse-type GC showed an excellent patient stratification into three(diffuse GC)or four(intestinal)prognostic groups.CONCLUSION Our findings support that Laurén subtypes represent different clinicopathological and biological entities.The development of specific prognostic scores is a useful and cost-effective strategy to improve risk assessment in GC.

摘要： Chromophobe renal cell carcinoma(ChRCC)is the third most common renal cell carcinoma(RCC)subtype,which predominantly occurs in sporadic setting.ChRCCs are considered to originate from the intercalated cell of distal tubules with two main morphological variants,classic and eosinophilic.Most ChRCCs carry a favorable clinical outcome.Histology alone is limited in predicting the behavior of ChRCCs that do not have overtly aggressive morphologic findings such as necrosis and sarcomatoid features.Along with positive CD117 expression,classic ChRCCs generally express diffuse and uniform CK7,while eosinophilic variant demonstrates more heterogeneous CK7 expression(rare or patchy).Multiple losses of chromosomes 1,2,6,10,13,17,and 21 are considered to be the genetic hallmarks of classic and eosinophilic ChRCCs,while chromosomal gains are known to be associated with sarcomatoid ChRCCs.TP53 and PTEN are the two most frequently mutated genes in ChRCCs.The major challenge in the differential diagnosis of ChRCCs includes considerations around the eosinophilic variant(of ChRCCs),where it may share overlapping features with oncocytoma or other recent emergent oncocytic tumors.Most eosinophilic ChRCCs share expression of the recently described biomarkers,LINC01187 and FOXI1,with classic ChRCCs,however,a subset of eosinophilic-like ChRCCs with lower biomarker expression have been demonstrated to harbor MTOR gene mutations.Overall,the morphologic features of ChRCCs and genetic profile with combinations of chromosomal losses and gains suggest this tumor entity to represent a distinct,yet heterogeneous group of renal neoplasms.

摘要： Aloe vera (L.) Burm.f. is one of the important medicinal plants, has been commercially cultivated in the Northern part of Bangladesh. An experiment was conducted to detect A. vera leaf disease collected from Natore district, Bangladesh. Fungal leaf spot disease caused by Pseudopestalotiopsis theae (Sawada) Maharachch., K.D. Hyde & Crous was identified through morphological features and sequencing of internal transcribed spacer region of ribosomal DNA. After submitting nucleotide sequences to NCBI, we received an accession number MH333081.1: Pseudopestalotiopsis theae. The growth pattern of the isolated fungal pathogen was evaluated on different solid culture media, at different temperature and light conditions. The results showed the maximum mycelial growth of the fungus on the Richard Agar medium under the complete dark condition at 25°C. We evaluated fungal antagonists against the isolated pathogenic fungus, in which Trichoderma asperellum showed optimistic results. Synthetic fungicides—Tilt 250EC and Ridomil Gold completely inhibited the studied fungus’s vegetative growth. Pseudopestalotiopsis theae causing A. vera leaf spot disease in Bangladesh is a new record to the best of our knowledge.

摘要： Immature dentate granule cells(imGCs)arising from adult hippocampal neurogenesis contribute to plasticity and unique brain functions in rodents1,2 and are dysregulated in multiple human neurological disorders3-5.Little is known about the molecular characteristics of adult human hippocampal imGCs,and even their existence is under debate1,6-8.

摘要： Congenital anomalies of the hand are malformations occurring during the development of the human limb,and present as isolated disorders or as a part of a syndrome.During the last years,molecular analysis techniques have offered increasing knowledge about the molecular basis of hand malformations.Disturbances in the signaling pathways during the development of the upper limb result in malformations of the upper extremity.At present,several genes have been identified as responsible for hand anomalies and other have been recognized as suspect genes related to them.Different and new high throughput methods have been introduced for the identification of the gene mutations.In the current editorial,we summarize concisely the current molecular status of isolated hand genetic disorders and the recent progress in molecular genetics,including the genes related to the disorder.This progress improves the knowledge of these disorders and has implications on genetic counselling and prenatal diagnosis.

摘要： BACKGROUND Burkitt-like lymphoma with 11q aberration(BLL-11q)is a rare provisional lymphoma,and the majority of cases are usually diagnosed by excisional lymph node biopsy.Here we report a case of BLL-11q diagnosed by needle biopsy of the liver in order to improve further understanding of the disease,reduce misdiagnosis,and identify treatment regimens.CASE SUMMARY The patient was a 67-year-old male.He complained of increased frequency of stools for more than one year,periumbilical pain and discomfort exceeding 3 mo.A computed tomography scan suggested an appendiceal malignant tumor with multiple metastases of the peritoneum,omentum,and liver.Needle biopsy of liver nodules showed that the tumor cells were of median size,the shape was consistent,a small number of tumor cells were large,the“starry sky”pattern was evident,and some tissue cells showed multiple apoptotic debris with coarse particles.Immunohistochemistry was positive for CD20,CD10,BCL6,and MYC.The Ki-67 proliferation index was more than 95%.Molecular biological detection indicated a lack of MYC,BCL2 and BCL6 gene rearrangement with 11q aberration.Therefore,the diagnosis was BLL-11q of the liver.After eight courses of chemotherapy,the abdominal and pelvic peritoneal masses and liver nodules had almost disappeared.The patient recovered well after a follow-up period of more than 13 mo.CONCLUSION BLL-11q is rare,but patients treated with standard chemotherapy for Burkitt lymphoma can have a good prognosis.Reducing the dose of chemotherapy or developing specific therapies to prevent overtreatment may be considered,but more case studies are needed.

摘要： CH_(4) storage associated with adsorbed natural gas(ANG)technology is an issue attracting great concern.Following the Advanced Research Project Agency-Energy(ARPA-E)targeted deliverable capacity of 315 cm^(3)·cm^(-3)(STP),hundreds of thousands of materials have been experimentally or theoretically evaluated,while the best results still show a 35% gap from the target.Moreover,recent theoretical research reveals that the target is beyond the possibility that real materials can be designed.To get rid of the awkward situation,we make attempts on investigating the CH_(4) delivery performance under other operation conditions.Methods of raising the discharge temperature(to infinite high)or elevating the storage pressure(to 25 MPa)have been proved to show limited effectiveness.In this work,it is found that the ARPA-E target can be achieved by using a decreasing storage temperature strategy.By taking 280 CoRE(computation-ready,experimental)COFs(covalent organic frameworks)as ANG materials,when reduce the storage temperature to 190.6 K,the highest deliverable capacity can reach 392 cm^(3)·cm^(-3)(STP),and 16.1% CoRE COFs can surpass the target.The target is also achievable when storage at 220 K.Structure performance relationships study shows strong correlation between deliverable capacity and void fraction.Hence,120 hypothetical COFs are generated to ascertain the optimum void fraction.In addition,the performance of 2D-COFs can be greatly enhanced by increasing the interlayer spacings,e.g.CH_(4) deliverable capacity(storage at 190.6 K)of ATFG-COF can be improved from 239 to 411 cm^(3)·cm^(-3)(STP)when interlayer spacing is enlarged to 1.65 nm.

摘要： Several benign conditions such as chronic pancreatitis, autoimmune pancreatitis,and paraduodenal pancreatitis can present as mass lesions and may mimicpancreatic ductal adenocarcinoma (PDAC) clinically and radiologically. Thoroughhistologic examination with attention to certain morphologic features can assist indeciphering neoplastic from reactive, however small biopsies often remain achallenge. Variable histologic patterns in conventional PDAC may also confoundthe diagnosis of PDAC. Uncommon subtypes of pancreatic carcinoma such asadenosquamous and squamous cell carcinoma, colloid carcinoma, medullarycarcinoma, hepatoid carcinoma and signet ring cell carcinoma necessitateexcluding metastasis from other sites prior to rendering the diagnosis ofpancreatic carcinoma. The use of immunohistochemical staining and molecularmarkers can aid in separating benign from malignant and PDAC from metastasis.PDAC expresses a few non-specific epithelial and mucin immunomarkers such asCK7, CK19, MUC1, MUC4 and MUC5AC. However, the only immunohistochemicalmarker that is specific for PDAC in the right clinical context is SMAD4.Loss of SMAD4 within atypical glands and ducts supports the diagnosis of PDACin a limited sample. Unfortunately, this finding is seen only in 50% of PDACcases. The identification of certain mutations can help support a diagnosis ofPDAC when benign conditions are in the differential. At the molecular level,KRAS oncogene mutations are seen in approximately 93% of PDACs. Subsequentneoplastic progression is driven by additional mutations of tumor suppressorgenes, such as CDKN2A, TP53, and SMAD4. Molecular markers can also providean insight to the prognosis. For instance, the loss of SMAD4 is associated with apoor outcome whereas mutations in MLL, MLL2, MLL3, and ARID1A are associatedwith improved survival.

摘要： A counterbalance between immune cells and tumour cells is key to fighting tumours,and immune escape is an important mechanism for the survival of tumour cells in the body.Tumor cells and their cytokines impair the activity of T cells,NK cells,macrophages and other immune cells through various ways,and change the expression of their own surface antigens so as to avoid the clearance of the immune system.Changes in major histocompatibility complex molecules,high expression of programmed death-ligand 1,and the presence of immunosuppressive cells in the tumor microenvironment(TME)are main means by which tumors impair the function of immune cells.During the development of tumours of the digestive system,different mechanisms acting on tumour cells,the TME,and immune cells lead to immune escape and promote tumour progression.In this paper,the mechanisms of immune escape in tumour cells of the digestive system are reviewed to provide a theoretical basis for the immunotherapy of gastrointestinal tumours.