Cancer in children with primary or secondary immunodeficiencies

Mueller, Brigitta U.; Pizzo, Philip A.

doi:10.1016/s0022-3476(95)70491-4

Cited by 141 publications

(89 citation statements)

References 31 publications

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“…56 The protein product is predicted to conliferative syndrome, and selective IgA deficiency are associated with non-Hodgkin lymphoma. 76 In considering leukemia tain a leucine zipper and nuclear localization signals.…”

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The genetics of familial leukemia

Horwitz

1997

Leukemia

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mechanisms operating in the common, sporadic cases. AnticiKeywords: leukemia; familial; anticipation pation occurs in Huntington disease, myotonic dystrophy, and other inherited neurodegenerative illness where it results from the expansion of unstable trinucleotide repeat sequences. IntroductionSince this remains as the only molecularly defined instrument for anticipation, I weigh the possibility that an analogous situ-A family history of leukemia in a first degree relative increases ation holds for leukemia genes. I also review evidence that the risk for leukemia by approximately three-to five-fold. 1,2anticipation may be present in other types of familial cancer, The magnitude of this risk elevation is equivalent to or even including those in which the gene has been characterized and greater than that exhibited for malignancies well known to does not contain trinucleotide repeat tracts, but is involved have a substantial proportion of cases resulting from autosoin maintaining genome integrity. Here I propose a novel and mal dominant inheritance of a mutant tumor suppressor gene, alternative hypothesis for anticipation in familial cancer based such as breast cancer 3 and colorectal carcinoma. 4 On the on the inheritance of a cascade of de novo mutations in secother hand, familial leukemia is exceptionally rare, and only a ondary tumor suppressor genes resulting from a primary defect few pedigrees obviously transmitting leukemia have ever been in a gene responsible for DNA fidelity. recognized. This paradox and other observations suggest that the fraction of leukemia attributable to heritable factors could be markedly under appreciated. First, acute lymphocytic leuLeukemia as part of a syndrome kemia (ALL) is predominately a disease of childhood. 5 In other childhood malignancy, such as retinoblastoma and Wilm's Several syndromic illnesses have leukemia as a component tumor, a large proportion of cases are the result of germline feature (Table 1) Since M7 AML is relatively rare in the general population, the

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confidence: 99%

“…therapy-and radiotherapy-associated immunodeficiency, and transplant-related immunosuppression. 76 Many of the individuals in these families were reported before the current era of FAB classification and molecular refinement of diagnosis; it is therefore difficult to establish subtype. In those families in which modern criteria have been…”

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confidence: 99%

The genetics of familial leukemia

Horwitz

1997

Leukemia

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“…After infections, malignancies are the second leading cause of death in children and adults with congenital immunodeficiency disorders [4]. The higher incidence of neoplasms observed in patients with primary immunodeficiency diseases is probably a consequence of the increased survival of these patients, because of the standard use of intravenous gamma globulin and a better management of recurrent infections [5].…”

Section: Discussionmentioning

confidence: 99%

“…The higher incidence of neoplasms observed in patients with primary immunodeficiency diseases is probably a consequence of the increased survival of these patients, because of the standard use of intravenous gamma globulin and a better management of recurrent infections [5]. Different reports quotes a 1.5 -2% risk for the development of malignancy among patients with X-LA [3,4,6,7]. It is notable that a relatively limited repertoire of cancers has been observed, mostly non-Hodgkin lymphomas and gastric and colon adenocarcinomas [3 -5, 7, 8].…”

Section: Discussionmentioning

confidence: 99%

X‐linked agammaglobulinaemia and squamous lung cancer

Echave-Sustaeta

Villena²,

Verdugo³

et al. 2001

Eur Respir J

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X-linked agammaglobulinaemia and squamous lung cancer. J.M. Echave-Sustaeta, V. Villena, M. Verdugo, A.López-Encuentra, P.de Agustín, N. Alberti. #ERS Journals Ltd 2001. ABSTRACT: A 32 yr-old nonsmoking male, diagnosed as having X-linked agammaglobulinemia, presented with fever, cough with purulent sputum, a very intense back pain and a mass of 10 centimetres in lower left lobe. Diagnostic evaluation revealed a squamous cell carcinoma with very aggressive metastases at L3. Malignancies are the second leading cause of death in children and adults with congenital immunodeficiency disorders, mostly non-Hodgkin lymphomas and gastric and colon adenocarcinomas, but this is the first report of lung cancer in a patient with X-linked agammaglobulinemia. Lung cancer incidence has been reported to be higher in patients with other diseases of the lung, however, there is no clear evidence of the role of bronchiectasis in developing lung cancer. It is possible that a longer survival for patients with X-LA recently diagnosed, and an association of chronic bronchial infection, could favour the development of pulmonary neoplasm.

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“…Cancer has been identified as the second leading cause of mortality in these patients (Mueller & Pizzo, 1995), and the presence of certain immunodeficiencies rank as among some of the highest reported risk factors for tumor development in humans (Filipovich et al, 1992). These cancers commonly develop in pediatric patients, and thus reflect a nearly 10 000-times higher risk of cancer, as compared to pediatric populations without these immune disorders (Ioachim, 1990;Mueller & Pizzo, 1995;Salavoura et al, 2008).…”

Section: Lymphoma In Patients With Primary Immunodeficienciesmentioning

confidence: 99%