Sensitivity and specificity of incisional random skin biopsy for diagnosis of intravascular large B-cell lymphoma.
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ABSTRACT:
SUBMITTER: Matsue K
PROVIDER: S-EPMC6450056 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
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Sensitivity and specificity of incisional random skin biopsy for diagnosis of intravascular large B-cell lymphoma.
Matsue Kosei K Abe Yoshiaki Y Kitadate Akihiro A Miura Daisuke D Narita Kentaro K Kobayashi Hiroki H Takeuchi Masami M Enzan Naoko N Tanaka Atsushi A Takeuchi Kengo K
Blood 20190115 11
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Project description:Intravascular B-Cell Lymphoma (IVBCL) is a rare type of extranodal large B-cell lymphoma where clonal B-cells selectively home to and replicate in the lumen of small vessels. Random skin biopsy (RSB) of uninvolved skin is a reputable tool to diagnose this protean entity and thus dermatologists are involved in its diagnosis. A literature review was completed to derive an approach to RSB in these patients to maximize diagnostic yield of IVBCL and minimize morbidity. Based on this review, data from 27 patients where clinical signs and symptoms and results of investigations were able to be linked to a positive diagnosis of IVBCL from RSB from 11 papers from 2003 to 2021 were analyzed. Following this analysis, RSB should be considered when there are no clinical skin findings and there is an elevated lactate dehydrogenase in the absence of lymphadenopathy and presence of fever of unknown origin, thrombocytopenia, anemia, and ferritinemia. Three to four RSBs from the thigh, abdomen and/or posterior upper arm should be performed via either incisional or telescoping punch biopsies and should include senile/cherry angioma(s) if present. If RSB results in a diagnosis of IVBCL, hematology should be consulted for further management. Consideration of a false negative biopsy or alternative diagnoses should be explored if RSB is negative for IVBCL. Following a standard approach for RSB in these patients will increase diagnostic yield of IVBCL while decreasing the risk of harm to the patient.
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Project description:We retrospectively analyzed bone marrow (BM) infiltration pattern in consecutive 30 intravascular large B-cell lymphoma (IVLBCL) patients diagnosed by random skin biopsy (RSB). BM infiltration of lymphoma was observed in 18 patients (60.0%), including five patients with the intrasinusoidal pattern with minimal extravasation, eight patients with the mixed of intrasinusoidal and scattered/interstitial or nodular infiltration, and five patients with the nodular/diffuse pattern. Twelve patients were negative for lymphoma infiltration. BM histology of patients with IVLBCL were diverse and frequently discordant with those of other site of IVLBCL lesions. BM biopsy had a poorer diagnostic performance for detecting intravascular features.
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Project description:Intravascular large B-cell lymphoma (IVLBCL) is a rare subtype of large B-cell lymphoma characterized by the exclusive growth of lymphoma cells within blood vessels. Due to the lack of lymphadenopathy and mass formation, the diagnosis of IVLBCL is frequently delayed. Random biopsies of normal-appearing skin are recommended to diagnose patients suspected of having IVLBCL. Although their usefulness is well recognized, the limitations and diagnostic utility of random skin biopsies for IVLBCL involving cherry angiomas have been reported in a limited number of cases. The current study presents the 21st reported case of IVLBCL with a cherry angioma, focusing on the strategies for diagnosing this malignant lymphoma. An 82-year-old Japanese man presented to Osaka Medical and Pharmaceutical University with a fever of unknown origin and general malaise. Laboratory tests revealed elevated levels of soluble interleukin-2 receptor and lactate dehydrogenase. No lymphadenopathies or masses were observed. Based on the results and presentation IVLBCL was clinically suspected, and a skin biopsy was performed at the site of the cherry angioma. The histopathological examination of the biopsy specimen demonstrated a collection of dilated capillary vessels in the upper dermis, filled with large lymphoid cells with irregularly shaped nuclei and nucleoli. Immunohistochemically, these lymphoid cells expressed cluster of differentiation (CD) 20, CD79a, multiple myeloma oncogene 1 and B-cell lymphoma 6. The patient was, therefore, diagnosed with IVLBCL within a cherry angioma. Although a limited number of cases of IVLBCL involving cherry angiomas have been reported, skin biopsies from cherry angiomas and random skin biopsies may be recommended for patients suspected of having IVLBCL, as they may be reliable detectors of lymphoma cells.
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Project description:Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous group of lymphomas which require multiagent therapy for remission induction and are associated with relapse in more than 40% of patients. Spontaneous remission of diffuse large B-cell lymphoma (DLBCL) is a rare occurrence.
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Project description: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.
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Project description:IntroductionRenal intravascular large B-cell lymphoma (IVLBCL) is a rare, aggressive B-cell lymphoma with neoplastic cells occupying the vascular lumina with only 53 patients reported to date. Here, we present the largest case series to characterize this rare disease.MethodsWe performed a multi-institutional, retrospective review of kidney biopsies and autopsies with a diagnosis of kidney IVLBCL and report our findings.ResultsWe identified 20 patients with an average age of 65.7 ± 7.8 years (55% males) with IVLBCL on kidney biopsy. The most common clinical presentation was fever and anemia. Acute kidney injury (AKI) was noted in 70% to 90%, proteinuria in 70% to 84.1%, hematuria in 45%, and nephrotic-range proteinuria in 10% to 26.1% of cases. The median (interquartile range) of serum creatinine was 1.75 (1.14, 3.3) mg/dl. Neoplastic lymphoid cells were present in glomeruli, peritubular capillaries, and arteries or veins. Of the patients, 44.3% showed extrarenal infiltration into bone marrow, liver, spleen, central vervous system, lung and skin. Neoplastic cells express CD20, CD79a, PAX-5, and MUM1+, and were CD10-negative. Available follow-up data showed a median survival of 21 months after diagnosis. Extrarenal involvement is a significant and independent predictor of mortality with a hazard ratio of 4.975 (95% confidence interval:1.38, 17.88) after controlling for age and gender. Serum creatinine, age, sex, and infiltration of intrarenal arteries or veins did not affect survival.ConclusionKidney IVLBCL is a rare disease that is unexpectedly diagnosed by kidney biopsy, presenting with fever, anemia, mild AKI, and proteinuria. Median survival is 21 months and extrarenal involvement is associated with worse outcome.
| S-EPMC10014346 | biostudies-literature
Project description:Purpose of reviewIntravascular large B-cell lymphoma is a rare subtype of large B-cell lymphoma that affects various organs including the nervous system. The diagnosis is challenging and frequently made at autopsy.Recent findingsWe report 5 cases with an array of neurologic manifestations. All patients were initially evaluated for alternative diagnoses. Three patients were diagnosed at autopsy, one with brain biopsy, and another with muscle biopsy. Muscle was involved in all 3 patients who had muscle tissue available for analysis.SummaryOur observations suggest that random open muscle biopsy may present a high-yield, less invasive option for the diagnosis of this disorder.
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Project description:IVLBCL is a rare distinct disease entity of extranodal large B-cell lymphoma . The disease is characterized by selective growth of tumor cells in the lumina of small vessels and by the absence of remarkable lymphadenopathy. We have developed patient derived xenograft IVLBCL mouse models from primary patient bone marrow samples. This dataset includes the array CGH analysis of IVLBCL tumor cells from the mouse xenograft models.
2016-08-13 | GSE72027 | GEO
Project description:IVLBCL is a rare distinct disease entity of extranodal large B-cell lymphoma. The disease is characterized by selective growth of tumor cells in the lumina of small vessels and by the absence of remarkable lymphoadenopathy. We have developed patient derived xenograft IVLBCL mouse models from primary bone marrow samples. This dataset includes the gene expression profiling of IVLBCL tumor cells from the mouse xenograft models.
2016-08-13 | GSE72026 | GEO