Intravascular lymphoma associated with hemophagocytic syndrome: a rare but aggressive clinical entity

Bhagwati, Niyati; Oiseth, Stanley J.; Abebe, Lool; Wiernik, Peter H.

doi:10.1007/s00277-003-0757-3

Cited by 35 publications

(21 citation statements)

References 13 publications

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“…Hemophagocytosis is observed in a proportion of cases. [9][10][11][12] The concept of immune-surveillance against cancer was proposed in 1970 by Burnet, who predicted that immune-deficient individuals, or those being treated with immunosuppressive drugs, would have an increased incidence of cancer, and that differences in immunologic host defense among healthy individuals might influence the occurrence of cancer. 13 Furthermore, natural cytotoxic activity of peripheral-blood mononuclear cells was assessed in 3625 adult Japanese individuals, between 1986 and 1990.…”

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confidence: 99%

Monoallelic Mutations of the Perforin Gene may Represent a Predisposing Factor to Childhood Anaplastic Large Cell Lymphoma

Ciambotti

Mussolin

d'Amore

et al. 2014

Journal of Pediatric Hematology/Oncology

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Anaplastic large cell lymphoma (ALCL) accounts for approximately 15% of all pediatric non-Hodgkin lymphomas. It has distinct clinical features, including frequent involvement of extranodal sites and rare localization to the central nervous system. As some presenting features of ALCL are in common with the hemophagocytic syndrome, we previously analyzed a small series of patients with ALCL for PRF1 mutations and found that 27% of them carried mutations. We now expanded our preliminary study by increasing the cohort of ALCL patients to a total of 84 consecutive cases, in whom we extended mutation analysis to the genes SH2D1A, PRF1 e UNC13D, all related to familial HLH. Furthermore, perforin expression in tumor cells was investigated on paraffin-embedded tissues by immunohistochemical analysis. Mutations were observed in 23/84 patients (27.4%). Twenty-one patients (25%) carried a total of 10 different mutations of PRF1; they were monoallelic in 20 patients, biallelic in 1. No mutations were found in the gene SH2D1A. Two additional patients had missense mutations of the UNC13D gene. These data show that monoallelic germline mutations of PRF1 are frequent in patients with childhood ALCL, suggesting that partially impaired cytotoxic machinery may represent a predisposing factor for ALCL. Involvement is less frequent for UNC13D and absent for SH2D1A.

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confidence: 99%

Monoallelic Mutations of the Perforin Gene may Represent a Predisposing Factor to Childhood Anaplastic Large Cell Lymphoma

Ciambotti

Mussolin

d'Amore

et al. 2014

Journal of Pediatric Hematology/Oncology

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“…CNS and skin involvement are more often seen in the Western population, whereas patients from Asian countries preferentially show hemophagocytic syndrome, bone marrow involvement, fever, hepatosplenomegaly, and thrombocytopenia. 4 Lymphadenopathy is usually absent in IVBCL in both varieties. Sinusoidal involvement can be seen in the liver, spleen, and bone marrow.…”

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confidence: 97%

Intravascular B-Cell Lymphoma: An Elusive Diagnosis

Raza

Qayyum

Raza

et al. 2012

JCO

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Intravascular B-cell lymphoma (IVBCL) is a rare and aggressive subtype of extranodal diffuse large B-cell lymphomas. First described by Pflegrand and Tappeiner 1 in 1959 as "angioendotheliomatosis proliferans systemisata," it is characterized by preferential growth of neoplastic lymphoma cells within the lumina of small blood vessels, particularly capillaries. Despite the 50 years that have passed since the first description of this syndrome, our understanding about its pathophysiology is still limited, and the syndrome continues to be a diagnostic and therapeutic challenge for practicing hematologists and oncologists. In this article, we describe an unusual case of IVBCL in a patient who presented with neurologic symptoms, hemolytic anemia, and synchronous carcinoma. Case ReportA previously healthy 47-year-old African American male presented with slurred speech, left-sided facial droop, and upperextremity jerky movements. A neurologic examination showed left, upper motor neuron facial nerve palsy. The laboratory workup was significant for mild leucocytosis with a WBC count of 15 ϫ 10 9 /L with a normal hemoglobin and platelet count. Magnetic resonance imaging (MRI) of the brain showed multiple small bright lesions mainly in the right cerebral hemisphere associated with vasogenic edema. An embolic or vascular phenomenon was favored in the differential diagnosis. Spinal fluid analysis did not reveal neoplastic cells. Computed tomography (CT) of the chest, abdomen and pelvis showed bilateral adrenal lesions, and positron emission tomography/CT showed hypermetabolic disease only in bilateral adrenal glands. A core-needle biopsy of the left adrenal lesion revealed a poorly differentiated epithelial neoplasm. Cytokeratin was the only stain that was positive of the multiple stains tested on the specimen. Because of continued confusion regarding the etiology of brain lesions (metastatic disease v ischemia), a brain biopsy was recommended, which the patient declined. While in the hospital, the patient had an acute decline in hemoglobin to 6.5 g/dL. The anemia workup revealed Coombs-positive hemolytic anemia. An esophagogastroduodenoscopy and colonoscopy were negative for malignant lesions. Prednisone 1 mg/kg was started, and a rapid improvement in hemoglobin was seen in the next several days. The patient left the hospital against medical advice and was seen in a clinic with a lag period of 2 months. The patient was completely asymptomatic at that point, and steroids were tapered off. Restaging CT scans of the chest, abdomen, and pelvis showed interval improvement in the size of adrenal lesions. MRI of the brain revealed old ischemic changes but no evidence of a discrete metastatic lesion.The patient remained asymptomatic for the next few months until he started having vague abdominal discomfort. Repeat-staging studies showed an interval increase in the size of adrenal lesions. While D I A G N O S I S I N O N C O L O G Y V O L U M E 3 0 ⅐ N U M B E R 1 5 ⅐ M A Y 2 0 2 0 1 2 e144

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“…Asian and non-Asian patients may have different presentations of IVL. In IVL patients of Asian origin (the Asian-variant IVL), hemophagocytic syndrome is the most relevant clinical manifestation [9,10]. …”

Section: Discussionmentioning

confidence: 99%

Intravascular Large B Cell Lymphoma Presenting as Fever of Unknown Origin and Diagnosed by Random Skin Biopsies: A Case Report and Literature Review

et al. 2017

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Patient: Female, 66Final Diagnosis: Intravascular B-cell lymphomaSymptoms: Fever of unknown originMedication: —Clinical Procedure: —Specialty: HematologyObjective:Rare diseaseBackground:Intravascular lymphoma (IVL) is a rare lymphoproliferative disorder characterized by the proliferation of large B lymphoma cells within the lumen of small-caliber blood vessels. Clinical features are nonspecific, presenting as a systemic disease with fever and may be life-threatening. Antemortem diagnosis is difficult but may be made with biopsies of affected tissues or with random skin biopsies.Case Report:We report the case of a 66-year-old white woman presenting with fever of unknown origin (FUO) who developed neurologic, pulmonary, and hematologic manifestations. The diagnosis of intravascular large B cell lymphoma (IVLBCL) was made by random skin biopsies. She received treatment with steroids, rituximab, cyclophosphamide, vincristine, and doxorubicin (R-CHOP). Her disease evolution was unfavorable and she died after her first cycle of chemotherapy.Conclusions:Our case illustrates that IVL can present as FUO and should be considered in the differential diagnosis of this syndrome, especially in patients with neurologic compromise and persistently elevated serum lactate dehydrogenase. In this case, the diagnosis was made with cutaneous biopsies of visibly unaffected skin. As in our patient, the course of IVL is usually fatal within a few months.

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Intravascular lymphoma associated with hemophagocytic syndrome: a rare but aggressive clinical entity

Cited by 35 publications

References 13 publications

Monoallelic Mutations of the Perforin Gene may Represent a Predisposing Factor to Childhood Anaplastic Large Cell Lymphoma

Monoallelic Mutations of the Perforin Gene may Represent a Predisposing Factor to Childhood Anaplastic Large Cell Lymphoma

Intravascular B-Cell Lymphoma: An Elusive Diagnosis

Intravascular Large B Cell Lymphoma Presenting as Fever of Unknown Origin and Diagnosed by Random Skin Biopsies: A Case Report and Literature Review

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