Delayed Radiation Myelopathy in a Child With Hodgkin Lymphoma and ARTEMIS Mutation

Kara, Buket; Seher, Nusret; Uçaryılmaz, Hülya; Yavaş, Güler; Paksoy, Yahya; Artaç, Hasibe; Stray-Pedersen, Asbjørg; Köksal, Yavuz

doi:10.1097/mph.0000000000001815

Cited by 4 publications

(4 citation statements)

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“…We reviewed the genetic and clinical features of patients with ARTEMIS deficiency complicated by lymphoma (Table 1). Seven patients, including our patient, have been reported to develop lymphoma, all with hypomorphic DCLRE1C mutations (15)(16)(17)(18). Six patients had EBV-related B-cell lineage lymphoma, and one had Hodgkin lymphoma with EBV reactivation.…”

Section: Discussionmentioning

confidence: 81%

A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review

Zhang,

Jiang,

Jin

et al. 2023

Front. Oncol.

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IntroductionHypomorphic mutations of DCLRE1C cause an atypical severe combined immunodeficiency (SCID), and Epstein-Barr virus (EBV)-related colon lymphoma is a rare complication.Case presentationA teenage boy presented with colon EBV-related colon lymphoma, plantar warts, and a history of recurrent pneumonia. His peripheral blood lymphocyte count and serum level of immunoglobulin (Ig) G were normal, but he exhibited a T+B-NK+ immunophenotype. Genetic analysis by whole exome sequencing revealed compound heterozygous mutations of DCLRE1C (NM_001033855.3), including a novel paternal splicing donor mutation (c.109 + 2T>C) in intron 1, and a maternal c.1147C>T (p.R383X) nonsense mutation in exon 13. Based on his clinical features and genetic results, the diagnosis of atypical SCID with colon lymphoma was established. Our review shows that seven patients, including our patient, have been reported to develop lymphoma, all with hypomorphic DCLRE1C mutations. Among these cases, six had EBV-related B-cell lineage lymphoma, and one had Hodgkin lymphoma with EBV reactivation. Unfortunately, all of the patients died.ConclusionRecognizing the radiosensitivity of the disease is critical for the prognosis. Hematopoietic stem cell transplantation before being infected with EBV is an optimal treatment.

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Section: Discussionmentioning

confidence: 81%

A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review

Zhang,

Jiang,

Jin

et al. 2023

Front. Oncol.

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“…Delayed radiation myelopathy can occur in patients in whom the spinal cord is exposed to radiation during treatment of cancers of the head and neck (cervical cord) or of the lung, mediastinum, or upper abdomen (thoracic cord) ( case 9-2 103 ). Patients typically develop a subacute to chronic progressive transverse myelopathy that may present initially as Brown-Séquard syndrome 104 .…”

Section: Myelopathy Associated With Cancer Treatmentmentioning

confidence: 99%

Section: Myelopathy Associated With Cancer Treatmentmentioning

confidence: 99%

“…A, T2-weighted image shows longitudinally extensive hyperintensity throughout the cervical and thoracic spinal cord. B, Postcontrast T1-weighted image shows T1 hyperintensity in the vertebral bodies and contrast enhancement in the upper cervical and upper thoracic regions of the spinal cord.Reprinted with permission from Kara B, et al, J Pediatr Hematol Oncol 103. © 2020 Wolters Kluwer Health.…”

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confidence: 99%

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Metabolic and Toxic Myelopathies

Holroyd,

Berkowitz

2024

CONTINUUM: Lifelong Learning in Neurology

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OBJECTIVE This article reviews the clinical presentation, diagnostic evaluation, and treatment of metabolic and toxic myelopathies resulting from nutritional deficiencies, environmental and dietary toxins, drugs of abuse, systemic medical illnesses, and oncologic treatments. LATEST DEVELOPMENTS Increased use of bariatric surgery for obesity has led to higher incidences of deficiencies in nutrients such as vitamin B12 and copper, which can cause subacute combined degeneration. Myelopathies secondary to dietary toxins including konzo and lathyrism are likely to become more prevalent in the setting of climate change leading to drought and flooding. Although modern advances in radiation therapy techniques have reduced the incidence of radiation myelopathy, patients with cancer are living longer due to improved treatments and may require reirradiation that can increase the risk of this condition. Immune checkpoint inhibitors are increasingly used for the treatment of cancer and are associated with a wide variety of immune-mediated neurologic syndromes including myelitis. ESSENTIAL POINTS Metabolic and toxic causes should be considered in the diagnosis of myelopathy in patients with particular clinical syndromes, risk factors, and neuroimaging findings. Some of these conditions may be reversible if identified and treated early, requiring careful history, examination, and laboratory and radiologic evaluation for prompt diagnosis.

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Multiple drugs

2021

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Delayed Radiation Myelopathy in a Child With Hodgkin Lymphoma and ARTEMIS Mutation

Abstract: The authors present a case of delayed radiation myelopathy in a 12-year-old girl with Hodgkin lymphoma and Artemis mutation. This is the first of such a case presented in the literature.

Cited by 4 publications

References 14 publications

A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review

A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review

Metabolic and Toxic Myelopathies

Multiple drugs

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