DICER1-Associated Central Nervous System Sarcoma with Neural Lineage Differentiation: A Case Report

Abstract Background: DICER1-associated central nervous system sarcoma (DCS) without evidence of other cancer-related syndromes is rare. Though the morphology of DCS was highly variable, the immunophenotype was predominant myogenic phenotype. Other lineage markers were consistently negative. Herein, our objective was to identify the clinical, pathogenesis, treatment and driver mutation of DCS with neurogenic differentiation through whole-exome sequencing (WES) and RNA sequencing (RNA-seq) of both leukocytes and tumor tissues.Case presentation: We describe here the case of a 8-year-old female patient presented with a 8-day history of headache, nausea and vomiting. Magnetic resonance imaging (MRI) revealed a heterogeneous mass in left parietal lobe. The patient underwent the craniotomy via left parietal approach. Histologically, the tumor predominately showed fibrosarcoma-like spindle cells with obvious cytoplasmic eosinophilic globules. Immunohistochemically, the tumor stained positively for NF, Syn, MAP-2, Desmin and DICER1. WES of tumor tissues detected the DICER1 somatic mutation. This case harbored tumor-driving mutations mainly including AR, AXL and ETV5 mutations, proved sarcoma-associated genes in other kind of sarcomas growth, in addition to TP53 and RAF1 mutations which were common found in DCS. All theses findings indicated the diagnosis of DCS with neurogenic differentiation. This neural lineage differentiation was further confirmed by the result of Gene Ontology (GO) analysis. The patient subsequently received high dose radiotherapy (60Gy) and chemotherapy. The MRI showed no evidence of tumor recurrence at the 12 months’ follow-up.Conclusions: This unusual case of DCS with neuronal differentiation is an important addition to the immuno-phenotypic spectrum of DCS. The prognosis is poor for DCS, and total tumor resection and high dose radiotherapy may assist in prolonging survival. Further research is needed to better understand the behavior and treatment of this rare DCS with neuronal differentiation.

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PRIMARY CENTRAL NERVOUS SYSTEM LYMPHOMA (PCNSL), RETROSPECTIVE ANALYSIS OF COMBINED CHEMO-RADIATION USING HIGH DOSE METHOTREXATE, EXPERIENCE FROM A SINGLE INSTITUTE

Research in Oncology ◽

10.21608/resoncol.2009.404 ◽

2009 ◽

Vol 5 (Issue 1-2) ◽

pp. 39-45

Author(s):

Mahmoud Abdelsalam

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Retrospective Analysis ◽

Central Nervous System Lymphoma ◽

High Dose ◽

High Dose Methotrexate ◽

Dose Methotrexate

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Treatment of secondary central nervous system involvement in systemic aggressive B cell lymphoma using R-MIADD chemotherapy: a single-center study

Chinese Neurosurgical Journal ◽

10.1186/s41016-021-00238-0 ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Yuchen Wu ◽

Xuefei Sun ◽

Xueyan Bai ◽

Jun Qian ◽

Hong Zhu ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Central Nervous System Involvement ◽

Central Nervous System Lymphoma ◽

Progression Free Survival ◽

B Cell Lymphoma ◽

High Dose ◽

Cns Involvement ◽

The Central Nervous System ◽

Secondary Central Nervous System

Abstract Background Secondary central nervous system lymphoma (SCNSL) is defined as lymphoma involvement within the central nervous system (CNS) that originated elsewhere, or a CNS relapse of systemic lymphoma. Prognosis of SCNSL is poor and the most appropriate treatment is still undetermined. Methods We conducted a retrospective study to assess the feasibility of an R-MIADD (rituximab, high-dose methotrexate, ifosfamide, cytarabine, liposomal formulation of doxorubicin, and dexamethasone) regimen for SCNSL patients. Results Nineteen patients with newly diagnosed CNS lesions were selected, with a median age of 58 (range 20 to 72) years. Out of 19 patients, 11 (57.9%) achieved complete remission (CR) and 2 (10.5%) achieved partial remission (PR); the overall response rate was 68.4%. The median progression-free survival after CNS involvement was 28.0 months (95% confidence interval 11.0–44.9), and the median overall survival after CNS involvement was 34.5 months. Treatment-related death occurred in one patient (5.3%). Conclusions These single-centered data underscore the feasibility of an R-MIADD regimen as the induction therapy of SCNSL, further investigation is warranted.

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RARE-29. PRIMARY CENTRAL NERVOUS SYSTEM NON-HODGKIN LYMPHOMA IN AN 11-YEAR-OLD BOY: A CASE REPORT

Neuro-Oncology ◽

10.1093/neuonc/noaa222.739 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii448-iii448

Author(s):

Jorge Luis Ramírez-Melo ◽

Regina M Navarro-Martin del Campo ◽

Manuel D Martinez-Albarran ◽

Fernando Sánchez-Zubieta ◽

Ana L Orozco-Alvarado ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Hodgkin Lymphoma ◽

Central Nervous System Lymphoma ◽

Complete Response ◽

High Dose ◽

Illustrative Case ◽

Tumor Biopsy ◽

Non Hodgkin Lymphoma ◽

The Right

Abstract BACKGROUND Primary central nervous system lymphoma (PCNSL) are very rare in children. CLINICAL CASE: An 11-year-old male presented with a 2 months history with myoclonic movements in the upper right limb, and a sudden frontal headache, gait disturbance due to right hemiparesis and an ipsilateral convulsive episode. Upon admission he had critical condition, with hypertensive skull syndrome, Glasgow of 12, Karnofsky 40%, right hemiparesis, swallowing disorder, facial paralysis, and loss of photo motor reflex and unilateral amaurosis. A CT and MRI showed a huge tumor mass in the left tempo-parietal region, infiltrating the white matter and shifting the midline. A Tumor biopsy was done, and reported diffuse small cell non-Hodgkin lymphoma of high-grade, Burkitt type. Systemic lymphoma workup was negative. He received six cycles of chemotherapy based on high dose methotrexate, rituximab and triple intrathecal.After the second cycle an ophthalmologic evaluation was done, and found infiltration to the right retina, for which 6 cycles of intra vitreous chemotherapy with methotrexate were applied, he showed an excellent response, and recovered all his neurological functions except that right hemianopia persist. Control MRI showed partial response at 2nd cycle and complete response after the 4th cycle. No Radiation was performed. CONCLUSION This report highlights the fact that pediatric PCNSL may be effectively treated by a combination of HDMTX and rituximab-based chemoimmunotherapy without irradiation. Lack of awareness of this rare entity may lead to extense resections of brain, and potential permanent secuelae that were avoided in this illustrative case.

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ML-23 The outcome of malignant lymphoma of the central nervous system in a single institution

Neuro-Oncology Advances ◽

10.1093/noajnl/vdaa143.079 ◽

2020 ◽

Vol 2 (Supplement_3) ◽

pp. ii18-ii18

Author(s):

Kiyonori Kuwahara ◽

Shigeo Ohba ◽

Kazuyasu Matsumura ◽

Saeko Higashiguchi ◽

Daijiro Kojima ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Adverse Events ◽

Malignant Lymphoma ◽

Survival Time ◽

Progression Free Survival ◽

Treatment Method ◽

The Other ◽

High Dose ◽

Other Hand

Abstract Background: Although high dose-methotrexate therapy has been performed for primary central nervous system malignant lymphoma (PCNSL), R-MPV (rituximab, methotrexate (MTX), procarbazine and vincristine) therapy is currently the first line therapy for (PCNSL) in our hospital. This study examines the results of R-MPV therapy comparing with past treatment. Method/Subjects: Thirty-seven patients treated at our hospital from 2009 to 2020 were included. Overall survival time, progression free survival time, and toxicities were evaluated. Results: The average age of patients was 65.7 years. Patients included 21 males and 16 females. Thirty-six patients were diagnosed DLBCL by resected brain tumor tissues, and one was diagnosed DLBCL by vitreous biopsy. As initial treatment, rituximab±HD-MTX therapy (R±MTX group) was performed in 20 cases, HD-MTX therapy plus radiation (R±MTX+RT group) was performed in 12 cases, and RMPV therapy was performed in 5 cases (R-MPV group). Median OS of all cases was 69 months and median PFS was 38 months. Median OS was 69 months in R±MTX group and could not be calculated in R±MTX+RT, and R-MPV groups. Median PFS was 16 months and 56 months in R±MTX group and R±MTX+RT, respectively, and could not be calculated in the R-MPV group. Although the R-MPV group had a short follow-up period, the results were considered to be comparable to those of the R±MTX+RT group. On the other hand, grade 3/4 adverse events occurred in 50%, 25%, and 100%, respectively. Conclusion: R-MPV therapy may delay the timing of radiation and reduce the amount of radiation. On the other hand, the frequency of adverse events is high, and more strict management of treatment is required.

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Primary Central Nervous System Lymphoma in Elderly Patients: Management and Perspectives

Cancers ◽

10.3390/cancers13143479 ◽

2021 ◽

Vol 13 (14) ◽

pp. 3479

Author(s):

Andrea Morales-Martinez ◽

Fernando Lozano-Sanchez ◽

Alberto Duran-Peña ◽

Khe Hoang-Xuan ◽

Caroline Houillier

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Elderly Patients ◽

Treatment Strategies ◽

Central Nervous System Lymphoma ◽

High Dose Chemotherapy ◽

Current Treatment ◽

Cns Lymphoma ◽

High Dose ◽

Consolidation Phase

The management of elderly patients suffering from primary central nervous system (CNS) lymphoma, who represent a rapidly growing population, is challenging. Despite the advances made in PCNSL treatment, the prognosis in older patients remains unsatisfactory. The high risk of systemic and CNS toxicity induced by a high-dose chemotherapy regimen and radiation therapy, respectively, limits the use of consolidation phase treatments in elderly patients and contributes to the poor outcome of these patients. Here, we review the current treatment strategies and ongoing trials proposed for elderly PCNSL patients.

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Patients with Primary Central Nervous System Lymphoma Not Eligible for Clinical Trials: Prognostic Factors, Treatment and Outcome

Cancers ◽

10.3390/cancers13122934 ◽

2021 ◽

Vol 13 (12) ◽

pp. 2934

Author(s):

Sabine Seidel ◽

Michelle Margold ◽

Thomas Kowalski ◽

Alexander Baraniskin ◽

Roland Schroers ◽

...

Keyword(s):

Central Nervous System ◽

Clinical Trials ◽

Nervous System ◽

Prognostic Factors ◽

Central Nervous System Lymphoma ◽

Initial Response ◽

Early Response ◽

Multicenter Trial ◽

High Dose ◽

Therapeutic Trials

Patients with primary central nervous system lymphoma (PCNSL) not fulfilling inclusion criteria for clinical trials represent an underreported population. Thirty-four consecutive PCNSL patients seen at our center between 2005 and 2019 with exclusion criteria for therapeutic trials were analyzed (non-study patients) and compared with patients from the G-PCNSL-SG-1 (German PCNSL Study Group 1) study (study patients), the largest prospective multicenter trial on PCNSL, comprising 551 patients. Median follow up was 68 months (range 1–141) in non-study patients and 51 months (1–105) in study patients. Twenty-seven/34 (79.4%) non-study patients received high dose methotrexate (HDMTX), while seven/34 (20.6%) with a glomerular filtration rate (GFR) < 50 mL/min did not. Median overall survival (OS) was six months (95% confidence interval [CI] 0–21 months) in those 34 non-study patients. The 27 non-study patients treated with HDMTX were compared with 526/551 G-PCNSL-SG-1 study patients who had received HDMTX as well. Median OS was 20 months (95% CI 0–45)/21 months (95% CI 18–25) in 27 non-study/526 study patients (p = 0.766). Favorable prognostic factors in non-study patients were young age, application of HDMTX and early response on magnet resonance imaging (MRI). If HDMTX-based chemotherapy can be applied, long-term disease control is possible even in patients not qualifying for clinical trials. Initial response on early MRI might be useful for decision on treatment continuation.

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