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Objective: To investigate the clinical and pathologic features and diagnosis of follicular lymphoma (FL) with a predominantly diffuse growth pattern (DFL) with 1p36 deletion. Methods: Eight cases of DFL with 1p36 deletion diagnosed at Department of Pathology, Beijing Friendship Hospital, Capital Medical University (n=5) and the Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital (n=3) from January 2017 to January 2023 were included. Their clinicopathologic features and follow-up data were analyzed. Immunohistochemistry and fluorescence in situ hybridization (FISH) were performed. Results: There were five males and three females, with a median age of 67 years, and inguinal lymphadenopathy was found as the main symptom. Histologically, similar morphologic features were sheared among all cases, with effaced nodal structure and characterized by proliferation of centrocytes in a diffuse pattern, with or without follicular components. The germinal center-related markers such as CD10 and/or bcl-6 were expressed in the tumor cells, and 1p36 deletion but not bcl-2 translocation was appreciable in these cases. Conclusions: DFL with 1p36 deletion is a rare subtype of FL, with some overlaps with other types of FL or indolent B-cell lymphomas in their pathologic features. An accurate diagnosis requires comprehensive considerations based on their clinical, pathologic, immunohistochemical, and molecular features.
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Linfoma de Células B , Linfoma Folicular , Masculino , Femenino , Humanos , Anciano , Linfoma Folicular/patología , Hibridación Fluorescente in Situ , Linfoma de Células B/patología , Deleción Cromosómica , Proliferación CelularRESUMEN
Objective: To investigate the clinicopathological features and molecular genetic characteristics of gastric SWI/SNF complex deletion-associated undifferentiated carcinoma with rhabdoid phenotype. Methods: Six cases of gastric SWI/SNF complex deletion-associated undifferentiated carcinoma with rhabdoid phenotype diagnosed at the Henan Cancer Hospital, Zhengzhou, China from January 2019 to December 2021 were collected. Histological observation, immunohistochemical staining, next-generation sequencing, and detection of mismatch repair (MMR), EBER, and HER2 were performed. The clinicopathological and molecular characteristics were summarized and relevant literatures were reviewed. Results: The 6 patients were all male, aged 48-75 years. Their initial symptoms mainly included abdominal pain, melena, and dysphagia. Endoscopic examinations showed gastric ulcer type masses, and the morphology of H&E were similar: the tumor cells showed diffuse infiltrating growth, no specific structural characteristics, obvious cell atypia, obvious mitoses, and rhabdomyoid cells with unequal proportions of eosinophilic cytoplasm. The immunohistochemistry for CKpan was negative in 3 of the 6 cases, while focal expression of other epithelial markers was found, including EMA (6/6), CK8/18 (4/6), and CK7 (1/6). P53 was diffusely strong positive in 4 cases (4/6), and negative in 1 case (1/6). Ki-67 was highly expressed (positive rate range, 60%-90%). Other related markers such as mesenchymal tumors, lymphoma, melanoma and germ cell tumors were all negative. Detection of the SWI/SNF complex subunit, namely INI1 (SMARCB1), BRG1 (SMARCA4), ARID1A protein detection, was detected in 5 cases with no SMARCA4 expression (5/6), 1 case with no ARID1A expression (1/6), and all cases with SMARCB1 expression (6/6). MMR proteins were examined, and dMMR was found in 1 of the 6 cases. HER2 expression was 0 in 3 cases, 1+ in 1 case, and 2+ in 2 cases, while no amplifications of HER2 gene were detected using FISH. EBER was negative in all 6 cases. Among the 4 cases of surgical radical treatment that were subject to next-generation sequencing, 3 cases showed TP53 mutations; 1 case showed ARID1A gene frame shift mutation, and there were also mutations of ATM, PTEN and other genes. There was 1 case with detected SMARCA4 gene copy number variant, and other gene mutations such as ALK, BRAF, CDKN1B, BRCA2, etc. Conclusions: Gastric SWI/SNF complex deletion-associated undifferentiated carcinoma with rhabdoid phenotype is a poorly differentiated and rare tumor. Detection of SWI/SNF complex related proteins is helpful for its diagnosis. Moreover, gene mutations associated with SWI/SNF complex will become a new indicator for its diagnosis and prognostication, and a potential new target for molecular therapy, which deserves more attention and warrants more research.
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Carcinoma , Humanos , Masculino , Carcinoma/genética , China , ADN Helicasas/genética , Proteínas Nucleares/genética , Factores de Transcripción/genética , Fenotipo , Persona de Mediana Edad , AncianoRESUMEN
Objective: To investigate the clinicopathological and molecular characteristics of pulmonary enteric adenocarcinoma (PEAC). Methods: The clinical and pathological data of 19 cases of PEAC in the Affiliated Cancer Hospital of Zhengzhou University were retrospectively collected from 2015 to 2019. Immunohistochemistry (IHC) was used to detect the relevant immunophenotypes, amplification refractory mutation system (ARMS) and fluorescence in situ hybridization (FISH) were used to detect the expression of EGFR, KRAS and ALK genes. The patients were followed up, and the relevant literature was reviewed and analyzed. Results: There were 19 cases, including 10 males and 9 females, with a mean age of 58 years (range 33-71 years). Microscopically, the tumors showed moderately to highly differentiated adenoid and/or papillary growth patterns. The tumor cells were highly columnar and sometimes showed pseudostratification. Inflammatory necrosis and scattered nuclear fragmentation were seen in some glandular lumens. IHC showed variable expression of CK7 (19/19), TTF1 (8/19), Napsin A (6/19), villin (17/19), CK20 (16/19) and CDX2 (10/19). Molecular testing showed KRAS mutation in nine cases (9/19), EGFR mutation in one case (1/19), and positive ALK split signal in one case (1/19). In the literature, the reported mutation rate of KRAS in PEAC was much higher than that of EGFR and ALK. All 19 cases underwent surgical resection and 11 cases were subjected to chemotherapy or radiotherapy. Conclusions: PEAC is a rare variant of invasive pulmonary adenocarcinoma, and has similar histological and cytological features to that of colorectal adenocarcinoma. However, detailed medical history, histologic heterogeneity, an IHC combination of CK7(+)/villin(+) and high KRAS mutation rate are the key points of diagnosis. The prognosis needs long-term follow-up and big data statistics.
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Adenocarcinoma del Pulmón , Neoplasias Pulmonares , Adulto , Anciano , Biomarcadores de Tumor , Femenino , Humanos , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Mutación , Estudios RetrospectivosRESUMEN
OBJECTIVE: To find out the prevalence of lower urinary tract symptoms (LUTS) and analyze the characteristics of the urodynamics diagnosis in female outpatients. To study the natural history of detrusor underactive (DU) by the followed up. METHODS: A retrospective study of the female LUTS outpatients in Peking University People's Hospital from Jan. 2005 to Dec. 2015 was performed. The basic information and the urodynamic results of a total of 656 female outpatients were collected. The distribution of storage symptoms, voiding symptoms, complications and urodynamic diagnosis were analyzed. The symptoms and urodynamic results were compared among the groups, which were divided according to age, urodynamic diagnosis and diabetes mellitus. A follow-up of 163 female DU outpatients was performed, including the treatments and the American Urological Association symptoms scores (AUAss). RESULTS: Frequency (25.03%) is the most common symptom in female outpatients, followed by stress urinary incontinence (20.04%), urgency (19.97%), and difficulty of voiding (17.32%). Stress urinary incontinence (SUI) accounted for the first (36.04%) of the whole outpatients, followed by the DU (24.08%), and bladder outlet obstruction (17.58%). The patients aged 51-60 years occupied the peak of almost all the diagnosis. There was a higher proportion of the young female patients than that of the middle and old patients diagnosed with no abnormal after the urodynamic study. The first, strong, urge and maximum bladder capacity were significantly larger in DU patients with diabetes than without diabetes. Follow-up results of the DU patients showed there was no significantly difference of the AUAss scores in both the two groups before and after the follow-up, but the quality of life decreased significantly. CONCLUSION: Female LUTS outpatients showed a main complaint of storage symptoms. SUI ranked the first in female patients with LUTS. With the increase of age, bladder sensation and detrusor function decrease. In elderly patients, DU became the first ranked disease instead of SUI. Diabetes can affect the sensory function of bladder in patients with DU, and then increase the difficulty of voiding. The patients with DU, absent from treatment, experienced a lower quality of life.
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Síntomas del Sistema Urinario Inferior , Urodinámica , Anciano , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Pacientes Ambulatorios , Calidad de Vida , Estudios RetrospectivosRESUMEN
Objective: To understand the consistency of ALK Ventana-D5F3 immunohistochemistry (IHC) interpretation in Chinese lung adenocarcinoma among histopathologists from different hospitals, and to recommend solution for the problems found during the interpretation of ALK IHC in real world, with the aim of the precise selection of patients who can benefit from ALK targeted therapy. Methods: This was a multicenter and retrospective study. A total of 109 lung adenocarcinoma cases with ALK Ventana-D5F3 IHC staining were collected from 31 lung cancer centers in RATICAL research group from January to June in 2018. All cases were scanned into digital imaging with Ventana iSCANcoreo Digital Slide Scanning System and scored by 31 histopathologists from different centers according to ALK binary (positive or negative) interpretation based on its manufacturer's protocol. The cases with high inconsistency rate were further analyzed using FISH/RT-PCR/NGS. Results: There were 49 ALK positive cases and 60 ALK negative cases, confirmed by re-evaluation by the specialist panel. Two cases (No. 2302 and No.2701) scored as positive by local hospitals were rescored as negative, and were confirmed to be negative by RT-PCR/FISH/NGS. The false interpretation rate of these two cases was 58.1% (18/31) and 48.4% (15/31), respectively. Six out of 31 (19.4%) pathologists got 100% accuracy. The minimum consistency between every two pathologists was 75.8%.At least one pathologist gave negative judgement (false negative) or positive judgement (false positive) in the 49 positive or 60 negative cases, accounted for 26.5% (13/49), 41.7% (25/60), respectively, with at least one uncertainty interpretation accounted for 31.2% (34/109). Conclusion: There are certain heterogeneities and misclassifications in the real world interpretation of ALK-D5F3 IHC test, which need to be guided by the oncoming expert consensus based on the real world data.
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Adenocarcinoma del Pulmón/diagnóstico , Quinasa de Linfoma Anaplásico/genética , Inmunohistoquímica , Neoplasias Pulmonares/diagnóstico , Humanos , Hibridación Fluorescente in Situ , Variaciones Dependientes del Observador , Patólogos , Estudios RetrospectivosRESUMEN
Objective: To compare the consistency of lymphoma multigene detection panels based on next-generation sequencing (NGS) with FISH detection of B-cell lymphoma gene rearrangement. Methods: From January 2019 to May 2023, fusion genes detected by lymphoma-related 413 genes that targeted capture sequencing of 489 B-cell lymphoma tissues embedded in paraffin were collected from Henan Cancer Hospital, and the results were compared with simultaneous FISH detection of four break/fusion genes: BCL2, BCL6, MYC, and CCND1. Consistency was defined as both methods yielding positive or negative results for the same sample. The relationship between fusion mutation abundance in NGS and the positivity rate of cells in FISH was also analyzed. Results: Kappa consistency analysis revealed high consistency between NGS and FISH in detecting the four B-cell lymphoma-related gene rearrangement (P<0.001 for all) ; however, the detection rates of positive individuals differed for the four genes. Compared with FISH, NGS demonstrated a higher detection rate for BCL2 rearrangement, a lower detection rate for BCL6 and MYC rearrangement, and a similar detection rate for CCND1 rearrangement. No correlation was found between fusion mutation abundance in NGS and the positivity rate of cells in FISH. Conclusions: NGS and FISH detection of B-cell lymphoma gene rearrangement demonstrate overall good consistency. NGS is superior to FISH in detecting BCL2 rearrangement, inferior in detecting MYC rearrangement, and comparable in detecting CCND1 rearrangement.
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Reordenamiento Génico , Secuenciación de Nucleótidos de Alto Rendimiento , Hibridación Fluorescente in Situ , Linfoma de Células B , Humanos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Linfoma de Células B/genética , Linfoma de Células B/diagnóstico , Hibridación Fluorescente in Situ/métodos , Proteínas Proto-Oncogénicas c-bcl-2/genética , Ciclina D1/genética , Proteínas Proto-Oncogénicas c-bcl-6/genética , Mutación , Proteínas Proto-Oncogénicas c-myc/genéticaRESUMEN
This study investigated the frequency of aspiration pneumonia in conscious stroke patients fed by a family member and examined the effect of introducing training in swallowing techniques by nurses. A total of 96 consecutive patients presenting with dysphagia due to acute stroke were included in the study. Patients presenting between January 2000 and July 2003 (n = 48) were fed orally by a family member given general nursing information (group A), whereas those presenting between August 2003 and March 2005 (n = 48) were fed orally by an experienced nurse trained in specific swallowing techniques (group B). All patients were examined daily for the presence of aspiration pneumonia. The incidence of aspiration pneumonia was 33.3% in group A and 6.3% in group B (P < 0.05). The incidence of aspiration pneumonia in dysphagic stroke patients who are orally fed is still high. Training in swallowing during oral feeding offers clear protection against pneumonia in conscious stroke patients.