Diagnosis of a case of leptomeningeal metastasis from endometrial carcinoma by next-generation sequencing and cerebrospinal fluid cytology / 中华神经科杂志

Endometrial carcinoma is one of common malignant tumors in female reproductive system, but it is extremely rare in leptomeningeal metastasis. The clinical manifestations and signs of meningeal carcinomatosis are complex and not specific. It is difficult to get a precise diagnosis early, and it has high rate of misdiagnosis and missed diagnosis. Accurate diagnosis and treatment of a case of leptomeningeal metastasis from endometrial carcinoma by next-generation sequencing and cerebrospinal fluid cytology are reported. The patient is an elderly female with a history of endometrial cancer. The main manifestations were fever, headache and dizziness; cerebrospinal fluid cytology showed tumor cells; AKT1 gene and TP53 gene were detected in endometrial carcinoma tissue, plasma and cerebrospinal fluid by next-generation sequencing. After treatment with intrathecal chemotherapy, immunotherapy combined with anti angiogenesis, the patient′s condition still progressed gradually and died finally. The purpose of this case report is to raise clinical awareness of recognition and treatment in early meningeal metastasis of endometrial carcinoma.

Advances in Diagnosis and Treatment of Leptomeningeal Metastasis of Lung Cancer / 中国肺癌杂志

Leptomeningeal metastases (LM), a special type of metastasis in advanced lung cancer, is known for its severe clinical symptoms, rapid progression and poor prognosis. LM used to be featured with low clinical diagnosis rate, limited treatment options, poor treatment efficacy, and very short survival if treatment not given. Though cerebrospinal fluid (CSF) cytology remains to be the gold standard for the diagnosis of LM, the positive rate of the first CSF cytology even in patients with suggestive clinical symptoms and positive imaging generally does not exceed 50%, leading to a delay in the diagnosis and treatment of patients with LM. With the progress of targeted therapy for driver gene-positive lung cancer and immunotherapy for driver gene-negative lung cancer, the overall survival of patients with lung cancer has been prolonged, meanwhile incidence of LM has been increasing year by year. Current clinical research in this field center around how to improve diagnosis rate and to find effective treatment approaches. This paper reviews advances in diagnosis and treatment of LM of lung cancer..
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Application of high-fluorescence body fluid cell mode on the platform Sysmex XE-5000 automated blood analyzer in diagnosis of meningeal carcinomatosis / 国际检验医学杂志

Objective To evaluate the performance of high-fluorescence body fluid cell (HF-BF)mode on the platform Sysmex XE-5000 automated blood analyzer,and analyse its clinical application value in diagnosis of meningeal carcinomatosis.Methods E-valuated the performance of HF-BF by using precision test and methodology comparison test.Retrospectively analyzed 295 test re-sults of cerebrospinal fluid in Zhongshan Hospital Affiliated to Xiamen University from June 2010 to September 2012.Results HF-BF on the platform Sysmex XE-5000 automated blood analyzer had high precision,and exhibited a good consistency with cytolgical examination.The percentage of high-fluorescence body fluid cell(HF-BF%)in the meningeal carcinomatosis group was higher than that in other cerebral diseases groups,had statistically significant differences (P < 0.05 ).The cut-off value for HF-BF% was 4.3%,while the area under a receiver operating characteristic (ROC)curve (AUC)was 0.933,the sensitivity was 95.2%,and the specificity was 92.7%.When HF-BF% was over 4.3%,it was more likely to detect tumor cell in cerebrospinal fluid cytology.Con-clusion HF-BF is an effective reference index for the early diagnosis of meningeal carcinomatosis and has significant clinical appli-cation value.

Evaluation for Cytopreservability of Manual Liquid-Based Cytology Liqui-PREP(TM) and its Application to Cerebrospinal Fluid Cytology: Comparative Study with Cytospin / 대한세포병리학회지

Cerebrospinal fluid (CSF) cytology is an effective tool for evaluating diseases involving the central nervous system, but his technique is usually limited by its low cellularity and poor cellular preservation. Here we compared the manual liquid-base Liqui-PREPTM (LP) to the cytospin (CS) with using a mononuclear cell suspension and we applied both methods to the CSFs of pediatric leukemia patients. The cytopresevability, in terms of cell yield and cell size, and the clinical efficacy were evaluated. When 2000 and 4000 mononuclear cells were applied, LP was superior to CS for the cell yield, 16.8% vs 1.7% (P=0.001) and 26.2% vs 3.5% (P=0.002), respectively. The mean size of the smeared cells was 10.60 micrometer in the CS, 5.01 micrometer in the LP and 6.50 micrometer in the direct smear (DS), and the size ratio was 1.7 (CS to DS), 0.8(LP to DS) and 2.1 (CS to LP), respectively. As compared to the cells in the DS, the cells in the CS were significantly enlarged, but those in the LP were slightly shrunken. Upon application to 109 CSF samples, 4 were diagnosed as positive for leukemia (positive), 4 had atypical cells and 101 were negative by CS; 6 were positive, one had atypical cells and 102 were negative by LP. For six cases, in which 4 were positive for leukemia and 2 of 4 had atypical cells by CS, they were positive by LP and they were also confirmed as positive according to the follow-up study. Three cases diagnosed as atypical cells (two by CS and one by LP), were confirmed as negative. In conclusion, these results suggest that LP is superior to CS for the cytopresevability and for rendering a definite diagnosis of cerebrospinal fluid.

Cytologic Analysis of Malignant Tumor Cells in Cerebrospinal Fluid / 대한세포병리학회지

Cytologic evaluation of cerebrospinal fluid(CSF) is an effective tool in diagnosing many disorders involving the central nervous system(CNS). CSF examination has been found to be of particular value in the diagnosis of metastatic carcinoma, lymphomatous or leukemic involvement of CNS and certain primary CNS tumors. As a survey of metastatic tumors to CSF and an evaluation of the preparation techniques increasing cellular yield in our laboratory, 713 CSF specimens examined between July 1995 and April 1997(1 year 10 months), were reviewed. There were 75 positive and 5 suspicious cases, the latter have had no evidence of tumors clinically. Primary tumors of 75 positive cases were classified as follows; 4(5.3%) as primary brain tumors, 40(53.3%) as secondary carcinomas, 13(17.3%) as leukemias, and 18 (24.0%) as lymphomas. The most common primary site of metastatic carcinomas was the lung in 17 cases(42.5%) followed by the stomach in 13(32.5%), breast in 8 (20.0%), and unknown primary in 2(5.0%). Four primary brain tumors were 3 cerebellar medulloblastomas and a supratentorial primitive neuroectodermal tumor (PNET). All 40 metastatic carcinomas were adenocarcinoma presented as single cells or cell clusters. Although signet ring cells were frequent in the cases of gastric primary cancers, no significant cytologic differences according to the primary site were observed. The cytologic features of leukemia and lymphoma were characterized by hypercellular smears presenting as individual atypical cells with increased N/C ratio, presence of nucleoli, and nuclear protrusions. In medulloblastomas and PNET, the principal cytologic findings were small undifferentiated cells arranged singly or in loose clusters with occasional rosettoid features. This study suggests that the CSF cytology is useful in the diagnosis of malignancy, especially metastatic extracranial tumors and the diagnostic accuracy can be improved by increasing cellular yield using cytocentrifuge.