Fluid Cytology Research Articles

Pleural effusion secondary to endometriosis: A systematic review

BackgroundEndometriosis-associated pleural effusion is a rare occurrence with poorly defined clinical characteristics. MethodsA systematic review was performed to examine all articles on endometriosis-associated pleural effusion extracted from 4 databases (PubMed, Embase, Web of Science and Scopus) from inception until November 2022. ResultsA total of 142 articles (isolated cases and small retrospective series) involving 176 patients (median age 33 years) with endometriosis-associated pleural effusion were included. The most frequent symptoms were dyspnea (67%), chest pain (55%) and abdominal pain (40%). Pleural effusion was predominantly unilateral (89%), right-sided (88.5%) and massive (56%). Ascites was evident in 42% of the cases. Pleural fluid had a bloody appearance in 99% of cases and always met the exudate criteria. Pleural fluid cytology identified only 9% of the patients, with pleural biopsy being the most common diagnostic procedure (74%). Most patients were treated with hormones (76%), thoracic surgery (60%) and abdominal surgery (27%). Effusion recurrence was observed in 26% of cases after a median follow-up of 1 year. ConclusionsThe presence of right-sided hemorrhagic pleural effusion in a young woman warrants an assessment for the possibility of endometriosis. Despite conventional treatment, effusion recurs in approximately a quarter of patients.

SDPS-43 OUTCOMES OF SUPRATENTORIAL FOCAL ENHANCING LESIONS CONCERNING FOR LEPTOMENINGEAL METASTASES

Abstract Leptomeningeal metastasis (LM) is an aggressive cancer complication with poor prognosis. Prompt diagnosis based on clinical findings, neuroaxis imaging, and cerebrospinal fluid (CSF) cytology- critical for appropriate, timely management. However, diagnosis is often challenging- as imaging lacks specificity and CSF cytology lacks sensitivity. Classic LM imaging findings include cerebellar folia, cranial nerve, and cauda equina enhancement. Of 103 patients with solid tumor brain metastasis referred to Neuro-Oncology at MD Anderson Cancer Center from 2016-2022 for evaluation of suspected LM on stereotactic radiosurgery (SRS) planning MRI, 15 had limited (≤5) nodular or linear focal enhancement in supratentorial sulci, without classic LM imaging. Upon initial workup, none had symptoms, neurologic deficits, or spine imaging consistent with LM; 10 underwent ≥1 lumbar puncture (median 1; range, 0-4) of which 2 (13%) had CSF cytology-confirmed disseminated LM. Majority were female (n=10); median age 60 years (range, 29-87). Most had lung (n=6) or breast (n=5) cancer. Five (33%) had history of craniotomy and resection of metastasis, with 1 resection cavity near supratentorial findings subsequently confirmed as LM. Both patients with confirmed LM received whole-brain radiation (WBRT)- instead of planned SRS- and intrathecal chemotherapy. One died 10.5m following diagnosis; the other continues therapy 11.6m later. In the remaining 13, the suspicious LM findings were determined to represent parenchymal/dural metastasis, treatment effect, or vascularity. Six were dispositioned to SRS, 3 to WBRT. One was ultimately diagnosed with LM (cytology-confirmed) 10m following WBRT. Nine subsequently received systemic therapy for intracranial and/or systemic disease. Median OS was 11 months (range, 4-37) from LM suspicion; 6 remain alive. In this small series, a minority of patients with supratentorial focal enhancing lesions without classic imaging findings were diagnosed with disseminated LM. Further study is needed to better stratify patients by LM risk and thus appropriateness of workup and intervention.

Coryza Gangrenosa Bovum’un Baş-Göz Formu Belirlenen Sığırlarda Kan ve Beyin Omurilik Sıvısı Biyokimyası, Sitolojisi ve Hematolojik Parametrelerin Değerlendirilmesi

In this study, it was aimed to examine the biochemical changes, hematological changes and cerebrospinal fluid (CSF) cytology and blood serum of cattle with head-eye form of Malignant Catarrhal Fever (MCF). For this pur- pose, 22 cattle diagnosed with "head-eye form" of MCF and clinically healthy 10 cattle were evaluated. Blood and cere- brospinal fluid (CSF) were collected from all cattle. In sera, AST, urea, glucose, CK (P<0.05), LDH levels (P<0.01) were found be high, ALT, ALP, cholesterol (P<0.05), Ca, total protein (P<0.01) and Mg, albumine and Fe levels (P<0.001) were found to be low in MCF group when compared to the control group. In CSF, Ca (P<0.01) and total protein levels (P<0.001) were found high glucose level (P<0.05) was found low in MCF group when compared to the control group. In haematology, some parameters were determined to be different between the groups. In cytological results of CSF in MCF group, polymorphonuclear leucocytes, lymphocytes, erytrocytes, macrophages and plasma cells were determined. In conclusion, since there were a limited number of studies examining biochemical, cytologic and hematological results of MCF especially in CSF, the results from our study were thought to be important for future stud- ies in which viral diseases affects the nervous system of cattles.

Airway Hyperresponsiveness, but Not Bronchoalveolar Inflammatory Cytokines Profiles, Is Modified at the Subclinical Onset of Severe Equine Asthma.

Airway hyperresponsiveness (AHR) and inflammation are both observed in human and equine asthma. The aim of this study was to assess the timeline and relationship of both features at the subclinical onset of severe equine asthma (SEA). First, the repeatability of the pulmonary function test (PFT) using impulse oscillometry system, and the methacholine bronchoprovocation test (BPT) were assessed at a 1-day interval on six SEA horses in clinical remission and six control horses. Then, clinical and ancillary tests were performed before and after a 1-week low-dust environmental challenge, including weighted clinical score, respiratory endoscopy, bronchoalveolar fluid cytology, PFT, and BPT. Both PFT and BPT showed acceptable repeatability. No test allowed SEA horses in clinical remission to be distinguished from control, unlike in human patients. Because of the low-dust environment, no significant difference was observed in the results of clinical and conventional ancillary examinations after the challenge. However, SEA horses showed increased AHR after the environmental challenge. At that stage, no signs of inflammation or changes in pro-inflammatory cytokines profiles (quantification and gene expression) were observed, suggesting AHR is present at an earlier stage of equine asthma than airway inflammation. This feature indicates SEA could present in a different disease pathway than neutrophilic human asthma.

Performances of Pre-Trained Models in Classification of Body Cavity Fluid Cytology Images

Using deep learning architectures, disease detection from medical images such as brain images, chest X-rays, and cytology images is used in many areas. With the use of deep learning architectures in the faster detection of diseases, the possibility of starting treatment early increases. Benign and malignant cell clusters are formed from body cavity effusions. Diagnosis is made by visual inspection of images of centrifuged body fluid effusions deposits. Bad cells are usually abundant in body cavity fluids. Here, separating malignant cells from the proliferation of mesothelial cells or inflammatory cells is the problematic part. In this case, a classifier can be used to distinguish benign mesothelial or inflammatory cells from malignant carcinoma cells. In this study, using Convolutional Neural Network (CNN) based models, the detection of benign and malignant cells from cytology images consisting of fluids in the body cavity will be an aid to pathologists by detecting early and accurately. The dataset contains 693 images with two classes of 256x192 benign and malignant cells. These images are trained using AlexNet, ResNet50, DarkNet53, GoogleNet, MobileNetv2, and EfficientNetb0 architectures. As a result of the test phase, the highest classification accuracy was obtained in the DarkNet53 architecture with 98.56%.

Efficacy of intrathecal methotrexate in children with high-risk medulloblastoma over three years: a retrospective study from a single center

PurposeChemotherapy is commonly used for treatment in children over three years old with high-risk medulloblastoma(MB). However, little is currently known about the therapeutic benefits and side effects of intrathecal methotrexate(MTX), warranting further research.MethodsIn this retrospective study, patients who received intrathecal MTX during chemotherapy were included in the MTX group (n = 32), and patients that only underwent cerebrospinal fluid (CSF) cytology analysis were assigned to the control group (n = 14).ResultsIn the MTX group, 27(84.38%) patients had metastatic disease, 3(9.38%) had diffuse anaplasia, and 3(9.38%) had residual disease greater than 1.5 cm2. Molecular subgroup classification was available for 28(87.5%) patients. In the control group, 8(57.14%) patients had metastatic disease, 3(27.27%) had diffuse anaplasia, and 6(42.86%) had residual disease greater than 1.5 cm2. Molecular subgroup classification was available for 6(42.86%) patients. The 5-year progression-free survival was 70.99% and the 5-year overall survival was 72.99% for the MTX group, and the corresponding values were 41.67% and 50% for the control group, respectively. 6 (18.75%) patients in the MTX group with group 4 disease developed MTX-related acute leukoencephalopathy and one of them died.ConclusionsOur findings support the addition of intrathecal MTX during chemotherapy as the optimal management for children with group 3 and SHH high-risk MB. However, it is not recommended for group 4 MB patients, especially in resource-limited regions.Trial registration number: Retrospective registered No.(2020 − 117).

Candidal peritonitis associated with perforation –An interesting case of ascitic fluid cytology

Candidal peritonitis associated with perforation –An interesting case of ascitic fluid cytology

Reliable Cerebrospinal Fluid Cytology and Immunocytochemistry Reporting over an Extended Period by the Addition of Aldehyde and Osmolyte-Based Preservative Solution

Introduction: The cytological examination of cerebrospinal fluid (CSF) is an important investigation in the workup of various inflammatory, malignant, or traumatic disorders of the central nervous system. The cells in the CSF lyse and degenerate at a very fast rate owing to its low tonicity, buffering capacity, redox potential, and pH, making it crucial to examine it within 2 h of sampling. We have hereby designed an aliphatic aldehyde, osmolyte, metal halide, and a buffer-based solution which will preserve the cellular components of CSF for 48 h. Methods: Thirty-nine CSF specimens were examined within 2 h of collection, and this reading was recorded as time zero reading. The CSF specimens were then divided into two tubes with (i) pre‐servative:CSF ratio of 1:5; and (ii) no preservative. Total and differential leukocyte counts and immunocytochemistry were performed on the paired specimens at 24 h and 48 h and were compared with the readings at zero hours. Results: The preservative-containing CSF showed significantly higher cellularity than the undiluted samples at 24 h and 48 h (p < 0.001). Median cell counts observed in the preservative-containing CSF were 5 times and 12 times higher than in the undiluted CSF. Neutrophils, lymphocytes, and RBCs showed immunopositivity for MPO, CD45, and GLUT-1 at both time intervals. Conclusion: Adding the prepared preservative solution to CSF in the ratio of 1:5 can optimally preserve the CSF cells for absolute and differential quantitation, morphological assessment, and immunological testing at a later date.

Comparison of liquid-based cytology and conventional preparations in nongynecological cytology

Abstract Introduction: The liquid-based cytology (LBC) has shown significant advantages over conventional preparation in cervical cytology. The use of LBC in aspiration and exfoliative nongynecologic cytology has been on the rise since the last few years with relatively few studies being available depicting its role in fine-needle aspiration cytology (FNAC) from other sites. The study aimed to determine the diagnostic efficacy of LBC in nongynecological exfoliative as well as FNAC samples and compare the conventional and LBC methods for cytomorphological differences. Materials and Methods: This is a cross-sectional, analytical study that included the samples collected from two tertiary care centers over 8 months (January 2022 to August 2022). A total of 168 consecutive samples of aspiration and exfoliative nongynecological cytology were included. In each case, two passes were carried out one for a conventional smear (CS) and the other for LBC by Eziprep/Thin Prep (TP) method followed by smear staining with H and E stain and Leishman’s stain. The slides were studied by two observers for cellularity, background (blood and necrotic cell debris), informative background (such as colloid, stromal fragments, etc.), presence of monolayer cells, and cell architecture with nuclear and cytoplasmic details by a semiquantitative scoring system. Statistical analysis was performed using Wilcoxon signed-rank test on the SPSS program and histopathology correlation was attempted wherever available by using OpenEpi software version 3. Results: The mean age was 40 years, with the majority being females (70%). The TP smears were qualitatively superior to CS with statistical differences observed in fluid cytology. There was no statistical difference observed at other sites; except TP being superior to CS with regard to the background in breast cytology. The arithmetic mean in TP was higher than CS in all the parameters. Conclusions: The cytology smears of TP were qualitatively superior to CS in aspiration and nongynecological cytology. Overall diagnostic accuracy was comparable in both techniques. The core competencies addressed in this article are: Medical knowledge, Procedural skills, Practice-based learning and improvement, and Professionalism.

Pleural effusion as the presenting feature in chronic myeloid leukemia

ABSTRACT Pleural effusion is rarely associated with chronic myeloid leukemia (CML). CML is asymptomatic and incidentally detected in majority of the patients. Few present with symptoms related to splenomegaly. Pleural effusion as the presenting symptom in CML has rarely been reported in the literature. We report the case of 58-year-old woman who presented with pleural effusion. Working diagnosis was lung malignancy or lymphoma. However, investigations and examination revealed CML in blast crisis. The patient was then treated with dasatinib, and she responded well. The exact mechanism for pleural effusion in CML is not known. It could be due to leukemia infiltration, extramedullary hematopoiesis, capillary obstruction, infections, or drug induced. Our case showed features compatible with extramedullary hematopoiesis. CML can rarely present with pleural effusion. Simple tests such as blood smear examination and pleural fluid cytology will aid in the diagnosis. The physicians and pathologists should be aware of this association.

The Role of Novel Tiered Reporting System in Serous Fluid Cytology and Risk of Malignancy Assessment: A Retrospective Study in a Tertiary Care Center.

Serous effusion cytology (SEC) reporting is important for the management of the cancer patient. The International System for Reporting Serous Fluid Cytology (ISRSFC) provides tiered reporting terminology to standardize practice, looking into the risk of malignancy (MAL) for each category. In this study, we have assessed the utility of the ISRSFC and reported our experience at a tertiary cancer center. Serous fluid cytology reported from January 2019 to December 2020 was categorized according to ISRSFC diagnostic categories: nondiagnostic (ND), negative for MAL (NFM), atypia of undetermined significance (AUS), suspicious for MAL (SFM), and MAL. The risk of MAL (ROM) and performance parameters were calculated. A total of 2150 serous effusions including 1160 pleural, 929 peritoneal, and 61 pericardial effusions from 2071 patients were reported. There were 742 males and 1329 females. The patient's age ranged from less than 1 yr to 95 years. The volume of the sample ranged from 0.5 ml to 2000 ml. There were 114 ND (5.32%), 1068 NFM (49.67%), 144 AUS (6.69%), 82 SFM (3.81%), and 742 MAL (34.51%) cases. Adenocarcinoma was the most common MAL involving serous fluids (91.50%). The calculated ROM was 15.38% for ND, 24.26% for NFM, 62.96% for AUS, 79.16% for SFM, and 100% for MAL. Sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy were, respectively, 68.04%, 96.96%, 96.35%, 72.07%, and 81.33%. ISRSFC provides consistent reporting terminology and the ROM for each category aids in clinical correlation and management.

Standardized cytopathology reporting of fluids using newly proposed international system for reporting serous fluid cytology - A single institutional experience

Background: Serous fluids are commonly produced in many disease conditions and it is relatively easy to collect it. Subjecting it to analysis will help identify the etiology of the disease process and thereby help the clinicians to plan the treatment strategy appropriately. The application of the international system for reporting serous fluid cytology will further make it easy for the clinicians with its simpler terminologies and clear categorization of entities. Materials and method: All effusion samples that were received from 2020 to 2022 were examined and categorized according to international system for reporting serous fluid cytology. Risk of malignancy (ROM) was also calculated. Results: Among 400 cases, 140 (35%) were pleural fluid, 260 (65%) were ascitic fluid. Among 140 pleural fluid, 8 (5.7%) were ND, 121 (86.4%) were NFM, 2 (1.4%) were AUS, 5(3.6%) were SFM and 4 (2.9%) were MAL. Among the 260 peritoneal fluid, 13 (5%), 226 (86.9%), 9 (3.5%), 9 (3.5%), and 3 (1.1%) were reported as ND, NFM, AUS, SFM and MAL respectively. Risk of Malignancy (ROM) calculated for the cases collected in this study were 0% for ND, 0.9% for NFM, 45.5% for AUS, 71.4% for SFM and 100% for MAL. Conclusion: The international system (TIS) for reporting serous fluid cytopathology is very easy to employ and gives high accuracy with clear diagnostic criteria for each category, hence makes it easy to communicate with the clinicians by employing simple terminologies.

Diagnostic Accuracy and Safety of Ultrasound Guided Omental Biopsy: Single Center Experience

Aim: Omental biopsy has conventionally been performed using a surgical approach. The thickened omentum can serve as a useful target for ultrasonography guided percutaneous biopsy, in clinical practice. The objective of our study was to determine the diagnostic value and safety of ultrasound guided percutaneous biopsy of omental thickening. Additionally, we aim to investigate the correlation of biopsy results with the paracentesis fluid cytology.&#x0D; Methods: This retrospective study included 49 patients (33 women and 16 men; mean age, 64 ± 13.9 [SD] years) who underwent ultrasound guided omental biopsy between 2014 and 2022 at a single institution at which US served as the first-line modality for omental biopsy guidance. Post-biopsy clinical follow-up were reviewed for each patient. We compare the outcomes of biopsy and paracentesis fluid cytology results. &#x0D; Results: Total 49 patients were included in our study. US-guided biopsy was diagnostic in 46/49 (93.8%) of patients. There were total 36 (73.4%) malignant cases, 5 (10.2%) chronic inflammation suggestive of tuberculosis, while 2 (4.1%) were chronic peritoneal infection. In 3 patients, the result of core biopsy was benign and reported as Ig4-related inflammatory pseudotumor, desmoid fibromatosis and fat necrosis-foreign body reaction. Out of 36 malignant cases, majority 17 (47.2%) had ovarian cancer. There were no major complications. In 21 of 25 patients (%84) who underwent paracentesis fluid sampling, cytology results (malign or bening cytology) were found to be consistent with omental biopsy results. The ascitic cytological evaluation was favourable for malignancy in 16/25 (64%) patients.&#x0D; &#x0D; Conclusions: Ultrasound-guided percutaneous biopsy of omentum is less expensive, safe and effective method with a high diagnostic accuracy. Paracentesis fluid cytology results are highly sensitive in patients with omental thickening.

Leptomeningeal metastasis in primary uterine cervical cancer: a rare case and review of the literature

Objectives. Leptomeningeal metastasis (LM) of primary uterine cervical cancer is rare and treatment options are limited. In this case report and literature review, we aimed to present a patient with cervical cancer with LM and discuss previously reported cases in the literature. Case presentation. Our case was a 58-year-old patient who was initially diagnosed with metastatic primary uterine cervical cancer and treated with chemotherapy and chemoradiotherapy. During follow-up, she developed neurological symptoms, and LM was detected in the craniospinal regions. Cerebrospinal fluid cytology examination has confirmed metastatic disease. The patient was treated with concurrent intrathecal methotrexate and whole-brain radiotherapy (WBRT). A good clinical and cytological response was obtained. However, while intrathecal methotrexate was being continued after WBRT, she succumbed to hematological toxicity before the radiological response could be evaluated. Conclusions. LM is an extremely rare and catastrophic distant spread pattern in patients with cervical cancer. In the literature, a total of 26 patients were reported up to date. Median survival after detection of LM was nine weeks, including our case. Multimodal treatment combinations such as systemic and intrathecal chemotherapy and radiotherapy (RT) were used. However, most of these reports did not have detailed information about toxicity. Despite the combined use of aggressive treatment modalities, patients have limited survival and very high risks of hematologic toxicity. Concurrent use of intrathecal chemotherapy and radiotherapy should be avoided due to increased risk of morbidity.

Pleural effusion-related Nocardia otitidiscaviarum, Anaplasma platys and Ehrlichia canis coinfection in a dog.

The coinfections by some microorganisms have been related to severe diseases in humans and animals, where immunosuppressive agents favor opportunistic behavior of other pathogens. A 4-month-old, female mixed-breed dog with a two-week history of inappetence, prostration, emaciation, and respiratory distress was admitted at a veterinary hospital in Brazil. Tachycardia, pale mucous membranes, severe respiratory distress, and a large number of ticks (Rhipicephalus sanguineus s.l.) in different body regions were observed at clinical examination. Hematological examination of dog showed leukocytosis, neutrophilia, mild anemia, and thrombocytopenia, whereas unremarkable values in biochemical tests. Thoracic radiography revealed a pleural effusion image. Blood and the pleural fluid (purulent aspect) samples were subjected to qPCR (16S rRNA and dsb genes) and sequencing, which identified Ehrlichia canis and Anaplasma platys coinfection. An aggregate of coccoid-to-branching or long filamentous microorganisms, surrounded by pyogranulomatous inflammatory reaction was seen at the cytology of the pleural fluid. Bacteriological culture of pleural effusion showed colonies compatible with the genus Nocardia, which revealed gram-positive filamentous organisms with a tendency of fragmentation and were identified as Nocardia otitidiscaviarum in mass spectrometry (MALDI-TOF MS). Therapy of N. otitidiscaviarum isolate using levofloxacin (supported by a previous in vitro susceptibility testing) and doxycycline for E. canis and A. platys resulted in complete resolution of the clinical picture. Here, we report for the first time a triple coinfection by Nocardia otitidiscaviarum, A. platys, and E. canis in a dog with pleural effusion, where debilitating or immunosuppressive conditions induced by A. platys and E. canis coinfection probably contributed to the opportunistic behavior of N. otitidiscaviarum.

A rare case of malignancy-associated ascites with no identifiable cause in a 29-year-old female with BRCA1 mutation

Introduction: We present a challenging case of a 29-year-old female with a detected Breast Cancer gene 1 (BRCA1) gene mutation who presented to us with an ascites the cause of which remained undiscovered even after appropriate testing. Case Report: A 29-year-old female presented with a five-month history of worsening intermittent abdominal pain which recently became constant and worsened in intensity without any identifiable trigger. She also had complaints of constipation for the past 2–3 days. Her past medical history was positive for (BRCA1) mutation which was tested after her mother’s diagnosis of breast cancer. Further evaluation revealed our patient had ascites, which was drained to collect 12 liters of fluid. The cytology and culture of ascitic fluid were negative, but total protein concentration or Serum to ascites albumin gradient (SAAG) ratio were concerning for a malignant cause of her ascites. She underwent multiple imaging and biopsies and the cause remain unidentified. Conclusion: By this report we want to shed light on the diagnostic challenges of malignancy-associated ascites in patients without peritoneal carcinomatosis. The high false-negative of ascitic fluid cytology in such cases makes it an unreliable test for evaluation. We performed fresh ovarian biopsies which were benign and highlight the need for further research to assess the false negative rates in frozen versus fresh biopsies while evaluating malignancy-associated ascites in patients with an unknown primary cause.

Diagnostic Utility of Claudin4 and Comparison with BerEp4 as a Marker for Metastatic Adenocarcinoma in Serous Effusions

Introduction: Fluid cytology for malignant cells is important for diagnosis and staging of malignancies. Morphological overlap between reactive mesothelial cells and adenocarcinoma poses challenges, for which many immunohistochemical markers like BerEp4 and MOC-31 have been used extensively. Claudin4 is a new marker with promising results; however, further studies are required to establish its role as a pan-carcinoma marker in serous effusions. This study aimed to determine the utility of Claudin4 in diagnosing metastatic adenocarcinoma in effusions and comparing its performance with BerEp4. Methods: Claudin4 immunohistochemistry (IHC) was performed on effusion cell blocks (n = 60) reported as positive or suspicious for metastatic adenocarcinoma on cytology over a 1-year period and was scored for intensity (0–3) and percentage of positive cells (0–4). The results were compared with BerEp4 IHC and correlated with follow-up. Ten benign effusions were included as negative controls. Results: Claudin4 IHC was positive in all 60 (100%) cases, irrespective of the primary site. BerEp4 IHC was positive in 58 (96.7%) fluids and negative in 2 (3.3%) cases. All 10 benign effusions were negative for Claudin4 and BerEp4. Claudin4 showed higher intensity and proportion scores as compared to BerEp4 in cases where tumor cells were predominantly singly scattered and was comparable to BerEp4 where tumor cells were arranged in groups. Sensitivity, specificity, PPV, and NPV of Claudin4 in our study was 100%. Sensitivity, specificity, PPV, and NPV of BerEP4 was 96.7%, 100%, 100%, and 83.3%, respectively. Conclusion: Claudin4 IHC staining results were comparable to BerEp4, irrespective of the primary site, and it performed better in cases where tumor cells were predominantly scattered singly.

Tamponnade cardiaque : première manifestation du myélome multiple : à propos d'un cas et revue de la littérature

Multiple myeloma is a hematologic malignancy characterized by clonal proliferation of plasma cells, mainly in bone marrow. Extramedullary disease is reported in many cases and may occur at diagnosis, at progression, or during relapse phase. Pericardial involvement is a rare condition that usually occurs with advanced-stage disease.We report a rare case of 76-year-old women with plasma cell-based pericardial effusion with cardiac tamponade as a form of presentation of multiple myeloma and discuss it in the light of literature.Diagnosis was established by pericardial fluid cytology. The patient received systemic chemotherapy, according to MPT protocol.

METB-12. CLINICAL MONITORING OF MEASURABLE RESIDUAL DISEASE BY CELL-FREE DNA IN PEDIATRIC BRAIN TUMORS

Abstract Conventional response monitoring relies on imperfect tools like MRI and cerebrospinal fluid (CSF) cytology to detect measurable residual disease (MRD) in children with brain tumors. “Liquid biopsy” techniques provide a minimally-invasive method for MRD detection by identifying fragments of cell-free DNA (cfDNA) shed from tumor cells following cell death. Early detection of MRD has been proposed as a clinically actionable biomarker that may allow clinicians to reliably detect tumor versus treatment effect, intensify therapy prior to relapse, and minimize toxicity. Our center is currently evaluating low-pass whole genome sequencing (LP-WGS) in children with brain tumors receiving standard of care therapy for real-time MRD assessment. Following informed consent, patients are enrolled on the Seattle Children’s Hospital Tissue Banking and Biology Protocol, and CSF samples are collected prospectively by lumbar puncture during routine clinical care. LP-WGS is performed in a CAP/CLIA certified environment with return of results to the referring clinician. In addition to feasibility as a prognostic and predictive biomarker, correlative studies will investigate if neuroinflammatory and immunologic profiles change with the presence of MRD using CNS cytokine signatures, including CXCL-12, CCL-2, MMPs, CD163, and GFAP. Preliminary cfDNA studies of children with embryonal tumors suggest LP-WGS is both a sensitive and clinically valuable test to detect tumor-associated copy number variants (CNVs). Thirty of thirty-one (97%) of CSF samples from 17 patients demonstrated adequate cfDNA for LP-WGS testing. Key CNVs detected included monosomy 6, isodicentric chromosome 17, and amplifications of MYCN and TTYH1. Among 8 samples obtained at initial tumor staging, LP-WGS detected tumor in 7/8 (1 negative ATRT without CNVs), whereas only 2/8 were positive by cytology. Two samples acquired additional chromosomal alterations at progression beyond those observed in the original tumor. Future prospective clinical trials are warranted to determine how MRD will transform clinical care and patient outcomes.

Intrathecal anti-PD-1 treatment in patients with metastatic melanoma (MM) with leptomeningeal disease (LMD): Real-world data and evidence.

e21516 Background: LMD is one of the most severe complications of melanoma and has an extremely poor prognosis. Over the past decade, the incidence of LMD is increasing with improved treatment strategies and prolonged survival. This real-world study aims to evaluate the safety and efficacy of intrathecal anti-PD-1 treatment in MM patients with LMD. Methods: MM patients with LMD diagnosed by MRI and/or cerebrospinal fluid (CSF) cytology were assigned to intrathecal nivolumab infusion 20mg once every 2 weeks (n = 4) or pembrolizumab 20mg once every 3 weeks (n = 3). The patients received a median of 4 cycles of treatment (range 2–7 cycles). Efficacy and safety analyses were performed on all the treated patients. Results: Between June 2022 and December 2022, 7 patients were treated, including 3 cutaneous, 2 acral and 2 primary leptomeningeal melanoma. All patients presented linear or small nodular enhancement of leptomeningeal on MRI. Four patients had concurrent parenchymal brain metastases. The tumor cells were found in 5 patients by CSF cytology, and pathologic diagnosis was obtained by leptomeningeal biopsy in 2 patients. According to RANO-LM criteria, 4 patients responded to treatment with symptom improvement and reduction or disappearance of linear enhancement on MRI, while 3 patients developed progressive disease. The median overall survival (OS) was 39.7 months after initial diagnosis and 24 weeks after LMD. With a median follow-up of 13.3 weeks (range 9.4–20.3 weeks), the median intracranial progression-free survival (IPFS) and median OS for intrathecal anti-PD-1 were 16.1 and 20.3 weeks, respectively. All treatment-related adverse events were grade 1-2, including headache (grade 1, n = 1; grade 2, n = 2) and low back pain (grade 1, n = 1). Conclusions: In this real-world study, intrathecal anti-PD-1 treatment was found to be well tolerated and effective in metastatic melanoma patients with LMD.