Objective To investigate the role of polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) in diagnosis and differential diagnosis of primary lymphoma and lymphoma-like lesion of the uterine cervix. Methods Three cases of primary cervical diffuse large B-cell lymphoma (DLBCL) and two cases of cervical lymphoma-like lesion were retrospectively studied by detecting their PCRIgH rearrangement and chromosomal break of IgH, bcl-6, bcl-2 and mye genes with FISH. Results PCRIgH gene rearrangement analysis demonstrated that the monoclonal rearrangement of IgH gene was occurred in 3 cases of cervical lymphoma and 1 case of lymphoma-like lesion, Interphase FISH analysis detected IgH gene break and bcl-6 gene break in all the three cases of cervical lymphoma, while no specific chromosomal break of IgH, and bel-6, bcl-2 and myc genes was detected in two cases of cervical lymphoma-like lesion.Conclusion PCR-IgH gene rearrangement is not specific to cervical B-cell lymphoma. Analysis of IgH gene break and bcl-6 gene break with interphase FISH is helpful to differential diagnosis between B-cell lymphoma and lymphoma-like lesion of the uterine cervix.

Objective:To report the clinical, pathological, electrophysiological and genic characteristics of a patient with familial amyloidosis Finnish type.Methods:The clinical characteristic of a 60-year-old female who admitted to Beijing Tiantan Hospital, Capital Medical University in June 2020 was analyzed. Meanwhile, the patient underwent electrophysiological examination, biopsy of labial gland, rectum and skin and gene sequencing analysis.Results:The patient presented left facial paralysis at the age of 50, right facial paralysis and thickening of lips at the age of 55, dysarthria and dysphagia at the age of 56. Physical examination of the patient showed signs of cranial nerves involvement and skin thinning and smoothness. Slit lamp showed corneal lattice dystrophy. Electrophysiological findings of the patient suggested bilateral carpal tunnel syndrome. Latencies were prolonged in bilateral visual evoked potential P100. The deep sensory conduction pathways in bilateral C 7 to biparietal and T 12 to biparietal cortex were abnormal. Pathology of the three biopsies of the patient showed the presence of amyloid deposition in the basement membrane around the glands. The heterozygous mutation of c.654 G>T in exon 4 of gelsolin (GSN) gene in the patient resulted in Asp187 Tyr mutation (p.D187Y). Conclusions:The patient with familial amyloidosis Finnish type was characterized by slowly progressive multiple group cranial neuropathy accompanied by corneal lattice dystrophy and skin changes. Optic nerve and spinal cord posterior funiculus sensory conduction pathway and D187Y mutation of GSN gene were involved.

ObjectiveTo explore the characteristics and rehabilitation of dysarthria patients who speak mandarin. Methods18 patients were rehabilitated with physiologic approach for 40 d. Before and after rehabilitation, maximum phonation time (MPT), frequency, tone and expiratory rate were tested with phonolaryngeal graph, while forced vital capacity (FVC), forced expiratory volume in one second (FEV1), maximum midexpiratory flow (MMF), peak expiratory flow rate (PEFR) were tested with Microspiro; Articulation and intelligibility were tested with mandarin words table and rate of sentence and paragraph. ResultsCompared with that before intervention, MPT of the patients were longer after intervention (P<0.05). The FVC was lower than normal rate before intervention and it was remarkable higher after intervention(P<0.01).Correct rate of sentence and paragraph was remarkable higher(P<0.01). ConclusionTests of Phono-laryngograph, Microspiro and correct rate of sentence are good comprehensive evaluation methods to speech and phonation of dysarthria. Physiologic approach to rehabilitation can remarkably improve patient's communication ability.

Objective To investigate the genetic aberrations in extranodal marginal zone lymphoma of mueosa-associated lymphoid tissue (MALT) lymphomas from different sites of the body in Chinese patients. Methods Two hundred and seventeen paraffin-embedded MALT lymphoma specimens from 11 major sites were studied with interphase fluorescence in situ hybridization (FISH) to detect t(11; 18) (q21;q21)/API2-MALT1, t(1; 14) (p22; q32)/IGH-BCL10, (14; 18) (q32; q21)/IGH-MALT1 and BCL6 gene involved chromosome translocations. Results These translocations were mutually exclusive and detected in 21% (46/217) of the cases, including t(11;18) (q21;q21) API2-MALT1 13% (29/217), t (1;14)(p22 ;q32) IGH-BCLIO in 1% (3/217), t(14;18) (q32;q21) IGH-MALT1 1% (2/217), BCL6 involved translocation in 2% (4/217) and IGH-unknown translocation partner in 4% (8/217). t(11; 18) (q21;q21)API2-MALT1 was found with the highest frequency in MALT lymphoma from lungs (47% , 8/17) and small intestine (29%, 4/14), followed by salivary gland (17%, 1/6), stomach (14%, 12/84) and ocular adnexae (6% , 4/68). t(1 ;14) (p22;q32) was only detected in lungs (12%, 2/17) and stomach (1%, 1/84). t(14;18) (q32;q21) was mainly detected in lungs (6%, 1/17) and ocular adnexae (2%, 1/68). BCL6 gene involved translocation was detected in salivary gland (17% , 1/6) and stomach (4%, 3/84). Conclusions It is demonstrated that the four translocatidns occur with markedly variable frequencies in MALT lymphoma of different sites in Chinese patients. The distributions of these chromosome translocations in Chinese patients are slightly different from those reported in western patients.

Objective To investigate the clinical and pathological features of the sporadic Burkitt's lymphoma(BL),as well as its immunohistochemical and molecular characteristics.Methods 20 cases of sporadic BL were retrospectively studied by analyzing their light microscopy features,immunohistochemical expression,EBV infection detected by in stiu hybridization,chromosomal breakage of c-myc and/or lgH genes by interphase fluorescence in stiu hybridization (FISH),and their clinical manifestation.Results All the 20 cases of sporadic BL occurred in children(3-14 y)including 16 males and 4 females.Microscopically,the medium-sized tumor cells were monomorphic and proliferated in a diffuse pattern showingstarry-skywith numerous karyorrhectic debris.Mitotic figures were frequently seen.Immunohistochemically,the tumor cells were positive for CD20 and CD10,over 95%positive for Ki-67 and negative for TdT,CD99,MPO. No EBV infection wag found by in situ hybridization in 18 cases.Interphase FISH analysis detected c-myc gene breakage or amplification and/or IgH/c-myc gene breakage in all detected 15 cases.Conclusion Sporadic BL is a high-grade malignant B cell lymphoma.The tumor cell proliferation index is very high.Molecular and immunohistochemical analysis could reduce the incidence of misdiagnosis and thus phys a vital role on its correct diagnosis and appropriate therapy.

Objective To study the expressions of anaplastic lymphoma kinase (ALK-1) and cytotoxic proteins in primary systemic anaplastic large cell lymphoma (S-ALCL) and their relationship with clinical outcome. Methods 51 S-ALCL cases were collected from Lymphoma Lab of Peking University Health Science Centre & Peking Children's Hospital. The morphologic characteristics were studied under routine microscope, and essential immunohistochemical stainings were performed and reviewed to confirm the diagnosis of S-ALCL. Immunohistochemical stainings for ALK-1 and cytotoxic proteins (TIA-1 & granzyme B) were performed using standard SP method. Patients related clinical data including follow-up materials were collected. Results Survival time of 44 cases with completely clinical follow up materials ranged from 0.5～66months. 36 out of 51 cases(37 %) was positive for ALK-1 protein. While 20 cases out of 47 S-ALCL cases ( 42.55 % ) positive for granzyme B and 22 out of 28 cases (81.48 %) were positive for TIA-1. The prognosis of patients with ALK-1 protein positive and granzyme B negative expression was better, but TIA-1 expression might have nothing to do with clinical outcome (P＞0.05). In addition, multivariate analysis confirmed that ALK-1 protein expression, granzyme B protein expression and Ann-Arbor stage system were possible for prognosis(P＜0.05), Conclusion Expression of ALK-1 and granzyme B protein expression may serve as two independent prognostic predictors in S-ALCL patients.

Objective:To investigate the clinicopathological characteristics, diagnosis and differential diagnosis of liposarcoma of the extremities.Methods:Fourteen patients with atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL), dedifferentiated liposarcoma (DDL) and myxoid liposarcoma (ML) in Beijing Tiantan Hospital of Capital Medical University from March 2002 to December 2019 were collected. Fluorescence in situ hybridization (FISH) and immunohistochemical staining were used to detect the MDM2 gene amplification and expressions of S-100, CDK4 and MDM2 proteins in tumor tissues. The characteristics of different types of liposarcoma were comprehensively analyzed combined with clinical data and histopathological characteristics.Results:The age of 14 patients was (55.6±16.7) years old, with 10 males and 4 females. There were 2 cases of ALT/WDL, 6 cases of DDL, and 6 cases of ML. Immunohistochemistry showed that S-100 was positive in all patients and the patterns were scattered, partial and extensive. CDK4 and MDM2 were positive in both ALT/WDL and DDL, and weakly expressed in ML (4 cases). Vimentin was positive in all patients. MDM2 gene amplification was detected in 2 cases of ALT/WDL and 6 cases of DDL.Conclusion:Liposarcoma has a high incidence and obvious morphological diversity, accurate diagnosis is critical to the prognosis and treatment of the tumor.

Objective To explore the CT and MRI imaging and clinicopathological features of extranodal NK/T cell lymphoma (NK/TCL). Methods Sixty-six patients with NK/TCL diagnosed from 2002 June to 2016 April in Beijing Tongren Hospital with intact CT and/or MRI imaging results were enrolled in this study. All the patients had tailed clinical information and follow-up. The imaging and clinicopathological features were analyzed retrospectively and their prognostic value on overall survival was analyzed. Results There were 49 males and 17 females with median age of 42 years. The median follow-up time was 18 months. The cases showed surrounding invasions including 10 cases (15.2 %) in soft palate, 5 cases (7.6 %) in hard palate, 2 cases(3.0 %) in tonsil, 8 cases(12.1 %) in upper lip, 13 cases(19.7 %) in maxillofacial soft tissue, 9 cases (13.6 %) in eyelid, 10 cases (15.2 %) in orbital, 3 cases (4.5 %) in maxilla, 6 cases (9.1 %) in pterygopalatine fossa,6 cases(9.1 %)in infratemporal fossa,3 cases(4.5 %)in skull base, 3 cases(4.5 %) in eyeball and 2 cases (3.0 %) in brain tissue. Kaplan-Meier survival analysis found that the 2-year overall survival rates of the patients with the involvement of hard palate, upper lip, maxillofacial soft tissue, eyelid, orbital, maxillary, eyeball and brain organizer were lower than those of the patients without the involvement of these sites(χ2values were 4.470,4.041,4.456,13.933,8.986,4.000,44.121,6.527,16.822,respectively, all P< 0.05). Further multivariate Cox regression analysis showed that maxilla and brain involvement were independent adverse factors (RR=34.717, 95 % CI 3.404-354.035, P=0.003; RR=37.545, 95 % CI 3.188-442.187, P= 0.004). Conclusions MRI and CT examinations are of great value in diagnosis and prognostic assessment of NK/TCL. Clinicians can make correct and timely diagnosis by comprehensive clinical, radiological and pathological features and can make a detailed clinical assessment to give patients appropriate treatment,thus improving the outcome of the NK/TCL patients.

【Objective】 To explore the diagnostic value of urinary liquid-based cytology (LBC) targeted fluorescence in situ hybridization (FISH) for urothelial carcinoma of the bladder. 【Methods】 Nuclear matrix protein 22 (NMP22) detection, urinary LBC and FISH were performed in 128 patients.The sensitivity and specificity of the three kinds of tests were analyzed with postoperative pathological results as the gold standard. 【Results】 The sensitivity of NMP22, urinary LBC and FISH was 61.11%, 79.17% and 82.46%, the specificity was 57.14%, 73.21% and 86.67%, respectively.The sensitivity of NMP22 and urinary LBC in detecting high BUC was better than that of low BUC, and the difference was statistically significant (P=0.01, P=0.03).There was no significant difference in the sensitivity of the three tests for the diagnosis of muscle-invasive bladder cancer and non muscle-invasive bladder cancer (P≥0.05). 【Conclusion】 Urinary LBC targeted FISH has high sensitivity and specificity in the diagnosis of urothelial carcinoma of the bladder and low-grade urothelial carcinoma.It can be an important method for the early screening and diagnosis of bladder cancer.