Lymphoid malignancy as a presenting sign of ataxia-telangiectasia

David M. Loeb, Howard M. Lederman, Jerry A. Winkelstein

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Ataxia-telangiectasia (AT) is an uncommon genetic disorder characterized by cerebellar ataxia, oculocutaneous telangiectasias, progressive immunodeficiency, and a predisposition to lymphoid malignancy. The genetic defect in AT predisposes not only to malignancy but also to severe toxicity from anti-neoplastic therapies. It is important to consider the diagnosis of AT in any child with a lymphoid malignancy at a younger than expected age, or who has a pre-existing ataxia, to anticipate unusually severe toxicities from the antineoplastic therapy, to avoid confusing the development of ataxia with toxicity from therapy, and to provide appropriate genetic counseling. We describe two children at a young age with a lymphoid malignancy diagnosed before the diagnosis of AT. One patient had severe toxicity from his chemotherapy, requiring truncation of the planned course of treatment. The other child was able to tolerate his entire planned course of therapy, but ataxia that was initially interpreted as toxicity from chemotherapy rather than as a sign of his AT developed. Lymphoid malignancy may be the presenting sign of AT. Making this diagnosis may influence therapy of the malignancy. The neurologic manifestations of the disease can be misinterpreted as toxicities of the chemotherapy, and diagnosis of AT allows appropriate genetic counseling for the family.

Original languageEnglish (US)
Pages (from-to)464-467
Number of pages4
JournalAmerican Journal of Pediatric Hematology/Oncology
Volume22
Issue number5
StatePublished - Jan 1 2000
Externally publishedYes

Fingerprint

Ataxia Telangiectasia
Neoplasms
Ataxia
Genetic Counseling
Drug Therapy
Therapeutics
Cerebellar Ataxia
Inborn Genetic Diseases
Neurologic Manifestations
Nervous System Diseases
Antineoplastic Agents

Keywords

  • Ataxia-telangiectasia
  • Chemotherapy
  • Leukemia
  • Lymphoid malignancy
  • Lymphoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

Lymphoid malignancy as a presenting sign of ataxia-telangiectasia. / Loeb, David M.; Lederman, Howard M.; Winkelstein, Jerry A.

In: American Journal of Pediatric Hematology/Oncology, Vol. 22, No. 5, 01.01.2000, p. 464-467.

Research output: Contribution to journalArticle

Loeb, David M. ; Lederman, Howard M. ; Winkelstein, Jerry A. / Lymphoid malignancy as a presenting sign of ataxia-telangiectasia. In: American Journal of Pediatric Hematology/Oncology. 2000 ; Vol. 22, No. 5. pp. 464-467.
@article{3e4707fd497644c9b114bf6bd2263043,
title = "Lymphoid malignancy as a presenting sign of ataxia-telangiectasia",
abstract = "Ataxia-telangiectasia (AT) is an uncommon genetic disorder characterized by cerebellar ataxia, oculocutaneous telangiectasias, progressive immunodeficiency, and a predisposition to lymphoid malignancy. The genetic defect in AT predisposes not only to malignancy but also to severe toxicity from anti-neoplastic therapies. It is important to consider the diagnosis of AT in any child with a lymphoid malignancy at a younger than expected age, or who has a pre-existing ataxia, to anticipate unusually severe toxicities from the antineoplastic therapy, to avoid confusing the development of ataxia with toxicity from therapy, and to provide appropriate genetic counseling. We describe two children at a young age with a lymphoid malignancy diagnosed before the diagnosis of AT. One patient had severe toxicity from his chemotherapy, requiring truncation of the planned course of treatment. The other child was able to tolerate his entire planned course of therapy, but ataxia that was initially interpreted as toxicity from chemotherapy rather than as a sign of his AT developed. Lymphoid malignancy may be the presenting sign of AT. Making this diagnosis may influence therapy of the malignancy. The neurologic manifestations of the disease can be misinterpreted as toxicities of the chemotherapy, and diagnosis of AT allows appropriate genetic counseling for the family.",
keywords = "Ataxia-telangiectasia, Chemotherapy, Leukemia, Lymphoid malignancy, Lymphoma",
author = "Loeb, {David M.} and Lederman, {Howard M.} and Winkelstein, {Jerry A.}",
year = "2000",
month = "1",
day = "1",
language = "English (US)",
volume = "22",
pages = "464--467",
journal = "Journal of Pediatric Hematology/Oncology",
issn = "1077-4114",
publisher = "Lippincott Williams and Wilkins",
number = "5",

}

TY - JOUR

T1 - Lymphoid malignancy as a presenting sign of ataxia-telangiectasia

AU - Loeb, David M.

AU - Lederman, Howard M.

AU - Winkelstein, Jerry A.

PY - 2000/1/1

Y1 - 2000/1/1

N2 - Ataxia-telangiectasia (AT) is an uncommon genetic disorder characterized by cerebellar ataxia, oculocutaneous telangiectasias, progressive immunodeficiency, and a predisposition to lymphoid malignancy. The genetic defect in AT predisposes not only to malignancy but also to severe toxicity from anti-neoplastic therapies. It is important to consider the diagnosis of AT in any child with a lymphoid malignancy at a younger than expected age, or who has a pre-existing ataxia, to anticipate unusually severe toxicities from the antineoplastic therapy, to avoid confusing the development of ataxia with toxicity from therapy, and to provide appropriate genetic counseling. We describe two children at a young age with a lymphoid malignancy diagnosed before the diagnosis of AT. One patient had severe toxicity from his chemotherapy, requiring truncation of the planned course of treatment. The other child was able to tolerate his entire planned course of therapy, but ataxia that was initially interpreted as toxicity from chemotherapy rather than as a sign of his AT developed. Lymphoid malignancy may be the presenting sign of AT. Making this diagnosis may influence therapy of the malignancy. The neurologic manifestations of the disease can be misinterpreted as toxicities of the chemotherapy, and diagnosis of AT allows appropriate genetic counseling for the family.

AB - Ataxia-telangiectasia (AT) is an uncommon genetic disorder characterized by cerebellar ataxia, oculocutaneous telangiectasias, progressive immunodeficiency, and a predisposition to lymphoid malignancy. The genetic defect in AT predisposes not only to malignancy but also to severe toxicity from anti-neoplastic therapies. It is important to consider the diagnosis of AT in any child with a lymphoid malignancy at a younger than expected age, or who has a pre-existing ataxia, to anticipate unusually severe toxicities from the antineoplastic therapy, to avoid confusing the development of ataxia with toxicity from therapy, and to provide appropriate genetic counseling. We describe two children at a young age with a lymphoid malignancy diagnosed before the diagnosis of AT. One patient had severe toxicity from his chemotherapy, requiring truncation of the planned course of treatment. The other child was able to tolerate his entire planned course of therapy, but ataxia that was initially interpreted as toxicity from chemotherapy rather than as a sign of his AT developed. Lymphoid malignancy may be the presenting sign of AT. Making this diagnosis may influence therapy of the malignancy. The neurologic manifestations of the disease can be misinterpreted as toxicities of the chemotherapy, and diagnosis of AT allows appropriate genetic counseling for the family.

KW - Ataxia-telangiectasia

KW - Chemotherapy

KW - Leukemia

KW - Lymphoid malignancy

KW - Lymphoma

UR - http://www.scopus.com/inward/record.url?scp=0034265278&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034265278&partnerID=8YFLogxK

M3 - Article

C2 - 11037863

AN - SCOPUS:0034265278

VL - 22

SP - 464

EP - 467

JO - Journal of Pediatric Hematology/Oncology

JF - Journal of Pediatric Hematology/Oncology

SN - 1077-4114

IS - 5

ER -