Hodgkin lymphoma in a young child contributing to a diagnosis of ataxia telangiectasia

Review of the literature

Jennifer M. Hummel, Erik C Thorland, Megan S. Lim

Research output: Contribution to journalArticle

Abstract

Ataxia telangiectasia (A-T) is a rare genetic disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, chromosomal instability, and radiation sensitivity (Peterson et al. Lancet 283:1189-1193, 1964; Boder and Sedgwick Pediatrics 21:526-554, 1958; Taylor et al. Nature 258:427-429, 1975). Compared to the general population, patients with primary immunodeficiencies such as A-T have an increased rate of malignancy and an earlier age at presentation (Loeb et al. J Pediatr Hematol/Oncol 22:464-467, 2000; Taylor et al. Blood 87:423-438, 1996). We report the clinical, histopathologic, and molecular features of a 6-year-old child who presented with EBV-positive Hodgkin lymphoma (HL), which led to the diagnosis of ataxia telangiectasia. The diagnosis of HL at this unusually young age prompted further clinical, immunologic and cytogenetic evaluations, all of which supported a diagnosis of A-T. Because A-T patients are exquisitely sensitive to radiation, the patient was put on a modified chemotherapeutic regimen; however, 14 months later, he experienced a relapse and passed away by age 9. Classical HL is relatively rare among A-T patients, and this is the first documented case of an EBER-1 positive Hodgkin lymphoma in an ataxia telangiectasia patient. A review of the literature examining cases of HL in A-T is provided.

Original languageEnglish (US)
Pages (from-to)69-76
Number of pages8
JournalJournal of Hematopathology
Volume3
Issue number2
DOIs
StatePublished - 2010

Fingerprint

Ataxia Telangiectasia
Hodgkin Disease
Cerebellar Ataxia
Chromosomal Instability
Inborn Genetic Diseases
Radiation Tolerance
Human Herpesvirus 4
Cytogenetics
Radiation
Pediatrics
Recurrence

Keywords

  • Ataxia telangiectasia
  • Diagnosis
  • Hodgkin lymphoma

ASJC Scopus subject areas

  • Hematology
  • Pathology and Forensic Medicine
  • Histology

Cite this

Hodgkin lymphoma in a young child contributing to a diagnosis of ataxia telangiectasia : Review of the literature. / Hummel, Jennifer M.; Thorland, Erik C; Lim, Megan S.

In: Journal of Hematopathology, Vol. 3, No. 2, 2010, p. 69-76.

Research output: Contribution to journalArticle

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