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A 55-year-old woman had remarkably generalized telangiectasia. Large atypical lymphoid cells were found within the lumen of small vessels, and CD20 was positive in her third skin biopsy. She was diagnosed with intravascular large B-cell lymphoma (IVLBCL) and went into remission of the skin manifestations after seven courses of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone) and four courses of intravenous high-dose methotrexate (HD MTX). To our knowledge, this is the first case report of IVLBCL with generalized telangiectasia in China. From a review of the literature, we found that generalized telangiectasia is a remarkable manifestation of intravascular lymphoma, and the differential diagnosis of intravascular lymphoma and panniculitis or vasculitis is very important. When the diagnosis is confusing, multiple skin biopsies are useful. [ABSTRACT FROM AUTHOR]

Background: Intravascular large B‐cell lymphoma (IVLBCL) is a rare extranodal lymphoma that is characterized by the selective growth of neoplastic cells in blood vessels, representing a potentially treatable cause of rapidly progressive dementia (RPD). Given its diverse clinical and instrumental presentation, it is often misdiagnosed with more common RPD causes, for example, Creutzfeldt‐Jakob disease (CJD) or vascular dementia. Methods: This study presents the clinical and histopathological characteristics of four IVLBCL cases that we diagnosed post‐mortem over 20 years among over 600 brain samples received as suspected CJD cases at our prion disease reference center. Results: Our patients exhibited various presenting symptoms, including behavioral disturbances, disorientation, and alertness fluctuations. The diagnostic tests performed at the time, including blood work, cerebrospinal fluid (CSF) analyses, electroencephalography, and neuroimaging, yielded nonspecific and occasionally misleading results. Consequently, the patients were repeatedly diagnosed as variably having CJD, epilepsy, vascular dementia, and encephalitis. The stored CSF samples of two patients tested negative at prion real‐time quaking‐induced conversion (RT‐QuIC), which we performed afterwards for research purposes. Neuropathological analysis revealed a differential involvement of various brain areas, with frontotemporal neocortices being the most affected. Conclusions: Our results confirm the significant clinical and instrumental heterogeneity of IVLBCL. Neuropathological evidence of the preferential involvement of frontotemporal neocortices, potentially conditioning the clinical phenotype, could be relevant to reach an early diagnosis. Finally, given the therapeutic implications of its misdiagnosis with CJD, we emphasize the utility of prion RT‐QuIC as a test for ruling out CJD in these patients. [ABSTRACT FROM AUTHOR]

A 55-year-old woman had remarkably generalized telangiectasia. Large atypical lymphoid cells were found within the lumen of small vessels, and CD20 was positive in her third skin biopsy. She was diagnosed with intravascular large B-cell lymphoma (IVLBCL) and went into remission of the skin manifestations after seven courses of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone) and four courses of intravenous high-dose methotrexate (HD MTX). To our knowledge, this is the first case report of IVLBCL with generalized telangiectasia in China. From a review of the literature, we found that generalized telangiectasia is a remarkable manifestation of intravascular lymphoma, and the differential diagnosis of intravascular lymphoma and panniculitis or vasculitis is very important. When the diagnosis is confusing, multiple skin biopsies are useful.

Intravascular large B-cell lymphoma (IVLBCL) is a rare hematological malignancy where its development in the intravascular environment is the main characteristic. Despite its ability to affect multiple organic systems, there is a tropism for the central nervous system, which may be related to several clinical syndromes, making this condition a great mimic and consequently a diagnostic challenge. Rapidly progressive dementia may be one of the presenting phenotypes of IVLBCL. This case report aims to highlight the main red flags, such as sustained elevation of lactate dehydrogenase, organomegaly and specific lesions with vasculitis-like bleeding, all that can be used as clinical clues to direct the differential diagnosis. In addition, it reinforces the role of early brain biopsy in this context, since IVLBCL is a treatable disease. • IVLBCL should be included in the differential diagnosis of rapidly progressive dementia • Persistent elevation of LDH, although nonspecific, is common in lymphomas and may be a red flag for this diagnosis. • Clinical improvement after high doses of corticosteroids does not necessarily favor the hypothesis of autoimmune vasculitis [ABSTRACT FROM AUTHOR]

The diagnosis of intravascular large B-cell lymphoma (IVLBCL) is often challenging owing to its nonspecific clinical manifestations and imaging findings. Herein, we present a rare case of IVLBCL in which seizure was the initial symptom, and unilateral hemispheric hyperperfusion on arterial spin labeling (ASL) was the only abnormal finding observed on brain magnetic resonance imaging (MRI). A 68-year-old male with a history of hypertension and type 2 diabetes was transferred to the emergency room owing to the sudden onset of altered consciousness and abnormal behavior. Upon arrival, the patient was disoriented and confused, and cerebrospinal fluid analysis revealed pleocytosis and elevated protein level. Even after the administration of acyclovir and antiepileptic drugs, his consciousness remained impaired, with repeated transient right hemiparesis indicating a focal seizure. The initial and follow-up MRI scans showed no obvious abnormalities in diffusion-weighted imaging (DWI), T2-weighted imaging, or susceptibility-weighted imaging (SWI); however, ASL revealed markedly increased blood flow to the left hemisphere. Subsequently, the rapid elevation of serum lactate dehydrogenase (LDH) and soluble interleukin-2 receptor (sIL-2R) levels after admission led to the diagnosis of IVLBCL by random skin biopsy and bone marrow examination. Despite the initiation of chemotherapy, the patient developed tumor lysis syndrome and succumbed to multiple organ failure. This case underscores the importance of considering IVLBCL in adult patients with refractory seizures and highlights the potential utility of ASL on MRI for early diagnosis., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Imamura et al.)

A 59-year-old previously healthy woman presented with a six-month history of fever, nonproductive cough, and weight loss. The cause of these symptoms remained obscure despite a thorough, month-long hospitalization. On presentation, she was normotensive with a pulse of 98 beats/minute, respiratory rate of 20 breaths/minute, and a temperature of 39.4C. She was emaciated. Physical examination was notable for faint bibasilar crackles on lung auscultation. Initial laboratory testing revealed pancytopenia. Peripheral smear demonstrated normocytic, normochromic anemia without immature cells or schistocytes. Other notable laboratory findings included elevated levels of lactate dehydrogenase, elevated ferritin, and elevated levels of fasting serum triglycerides. A comprehensive laboratory evaluation for connective tissue disease was negative. Plain chest radiography was normal while computed tomography (CT) of the chest demonstrated sub-centimeter nodules in a branching centrilobular pattern as well as in a peri-lymphatic distribution without associated lymphadenopathy or organomegaly. The above constellation of laboratory abnormalities raised concern for hemophagocytic lymphohistiocytosis (HLH). Soluble IL-2 (CD25) receptor levels were markedly elevated. Bronchoscopy with transbronchial biopsies of the right lower lobe was performed, revealing intravascular lymphoma associated with HLH. Our case emphasizes the need for clinicians to consider vascular causes of tree - in-bud nodules in addition to the conventional bronchiolar causes. The case also is a reminder of the need to conduct an exhaustive search for malignancy, in patients with HLH. [ABSTRACT FROM AUTHOR]

Intravascular large B-cell lymphoma (IVLBCL) is a rare aggressive extranodal non-Hodgkin lymphoma. The predominant, if not exclusive, growth of neoplastic cells within the lumina of small-sized vessels represents the hallmark of the disease. Diagnosis is challenging due to the absence of marked lymphadenopathy, the highly heterogeneous clinical presentation, and the rarity of the condition. Clinical presentation is characterized by variable combinations of nonspecific signs and symptoms (such as fever and weight loss), organ-specific focal manifestations due to altered perfusion, and hemophagocytic syndrome. The rarity of this entity and the paucity of neoplastic cells in biopsy samples hamper the study of recurrent molecular abnormalities. The purpose of this study was to explore the feasibility of a different approach to recover a sufficient amount of DNA of acceptable quality to perform next-generation sequencing studies. Here, we report the findings of whole-exome next-generation sequencing performed on a fresh-frozen cutaneous sample of IVLBCL, paired with the patient saliva used as germline DNA. To increase the cancer cell fraction, only the subcutaneous tissue was selected. With this approach, we obtained high-quality DNA and were able to identify oncogenic mutations specific for this entity and recapitulating its post-germinal center origin, even if the tumor fraction was low. Molecular studies performed on fresh-frozen cutaneous sample are feasible in IVLBCL, especially when analysis is restricted to the subcutaneous tissue. Wide adoption of this reproducible and cost-effective approach may foster further studies, which may be of help in supporting diagnosis, providing pathogenetic insights, and guiding treatment decisions., (© 2024. The Author(s).)