Pathology of Nerve Biopsy and Diagnostic Yield of PCR-Based Clonality Testing in Neurolymphomatosis

Duchesne, Mathilde; Roussellet, Olivier; Maisonobe, Thierry; Gachard, Nathalie; Rizzo, David M.; Armand, Marine; Richard, Laurence; Delage-Corre, Manuela; Jaccard, Arnaud; Corcia, Philippe; Vallat, Jean‐Michel; Magy, Laurent

doi:10.1093/jnen/nly055

Cited by 25 publications

(27 citation statements)

References 39 publications

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“…Nerve biopsy allows for histologic confirmation of NL, with a reported diagnostic yield of 80% from cranial nerve, root, or peripheral nerve biopsy 1,23 . This study only included biopsy defined patients, so cannot compare results.…”

Section: Discussionmentioning

confidence: 99%

Peripheral nerve neurolymphomatosis: Clinical features, treatment, and outcomes

et al. 2020

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This series characterises nine patients with neurohistopathologically proven peripheral nerve neurolymphomatosis. A search of the hospital neuropathology database from 2002 to 2019 identified biopsy proven cases. Clinical data, investigation modalities, treatments, and outcomes were collated. Median age at neuropathy onset was 47 y, the neuropathy commonly as the initial lymphoma disease manifestation. Most (8/9) presented with painful asymmetrical sensory disturbance, with additional cranial nerve involvement in three. Neurophysiology typically demonstrated multiple axonal mononeuropathies. Cerebrospinal fluid protein was often raised (6/8). Magnetic resonance imaging suggested peripheral nerve infiltration in 6/9 and positron emission tomography CT in 4/9. Bone marrow biopsy was abnormal in 6/8. Treatment involved systemic or intrathecal chemotherapy and radiotherapy. Median survival was 23 mo. Neurolymphomatosis is a rare but important cause of neuropathy, particularly in those lacking systemic evidence of lymphoma as correct aggressive treatment can prolong survival. Nerve biopsy is essential to classify lymphoma type and rule out alternatives.

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Section: Discussionmentioning

confidence: 99%

Peripheral nerve neurolymphomatosis: Clinical features, treatment, and outcomes

et al. 2020

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“…In some patients with hematological malignancies that are latent or in remission, nerve biopsy may be the only way to link the malignancy with the neuropathy 40 . Polymerase chain reaction (PCR) of the lymphoid infiltrate in nerve biopsies can prove monoclonality and help to distinguish between malignant and inflammatory infiltrates 41 …”

Section: Methodsmentioning

confidence: 99%

Nerve biopsy: Current indications and decision tools

et al. 2021

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After initial investigation of patients presenting with symptoms suggestive of neuropathy, a clinical decision is made for a minority of patients to undergo further assessment with nerve biopsy. Many nerve biopsies do not demonstrate a definitive pathological diagnosis and there is considerable cost and morbidity associated with the procedure. This highlights the need for appropriate selection of patients, nerves and neuropathology techniques. Additionally, concomitant muscle and skin biopsies may improve the diagnostic yield in some cases. Several advances have been made in diagnostics in recent years, particularly in genomics. The indications for nerve biopsy have consequently changed over time. This review explores the current indications for nerve biopsies and some of the issues surrounding its use. Also included are comments on alternative diagnostic modalities that may help to supplant or reduce the use of nerve biopsy as a diagnostic test. These primarily include extraneural biopsy and neuroimaging techniques such as magnetic resonance neurography and nerve ultrasound. Finally, we propose an algorithm to assist in deciding when to perform nerve biopsies.

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“…This can help prompt review of the diagnosis if clonality is detected. Duchesne et al tested IgH/TCR multiplex PCR assays on 15 nerve biopsies against standard histopathology in pNL 7. Of four biopsies showing ‘polyclonal infiltrates’ without clear histopathological evidence of malignant cells and not highly suspicious histologically, clonality studies led to the final diagnosis in three.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic delay in a case of T-cell neurolymphomatosis

Jaunmuktane

Cwynarski

et al. 2019

BMJ Case Rep

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A 69-year-old woman presented with severe subacute painful meningoradiculoneuritis. Neurophysiology showed a patchy, proximal axonal process with widespread denervation. Cerebrospinal fluid (CSF) was lymphocytic (normal T-cell predominant) with negative cytology. MRI revealed multiple sites of enhancement, but fluorodeoxyglucose positron emission tomography was negative. Bone marrow aspirate and trephine (BMAT) showed no evidence of a lymphoproliferative condition. Right brachial plexus biopsy demonstrated mixed T-cell/B-cell endoneurial inflammation not fulfilling criteria for vasculitis. She was stabilised with high-dose steroids and cyclophosphamide, followed by mycophenolate for inflammatory myeloradiculoneuritis. However, symptoms recurred when prednisolone was weaned. Although T-cell receptor gene analysis from the initial CSF demonstrated clonal rearrangements, it was only when the same clones were identified on two repeat BMATs and CSF that T-cell neurolymphomatosis, an exceedingly rare condition, was diagnosed. This case highlights the diagnostic challenge in peripheral neurolymphomatosis related to patchy disease, variable sensitivity and specificity of investigative tools, and the influence of therapies on traditional cytological definitions of lymphoma. The clinical picture, exhaustive exclusion of alternative causes and the persistence of an abnormal T-cell clone ultimately lead to a diagnostic consensus between specialist neurology and haematology clinicians.

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Pathology of Nerve Biopsy and Diagnostic Yield of PCR-Based Clonality Testing in Neurolymphomatosis

Cited by 25 publications

References 39 publications

Peripheral nerve neurolymphomatosis: Clinical features, treatment, and outcomes

Peripheral nerve neurolymphomatosis: Clinical features, treatment, and outcomes

Nerve biopsy: Current indications and decision tools

Diagnostic delay in a case of T-cell neurolymphomatosis

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