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Pineal Germinoma in a Child with Interferon-γ Receptor 1 Deficiency. Case Report and Literature Review

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Abstract

Interferon-γ receptor 1 (IFN-γR1) deficiency is one of the primary immunodeficiencies conferring Mendelian Susceptibility to Mycobacterial Disease (MSMD). Some cases of neoplasms have been recently reported in patients with MSMD, underlying the already known link between immunodeficiency and carcinogenesis. We report the first case of intracranial tumour, i.e. pineal germinoma, in a 11-year-old patient with complete IFN-γR1 deficiency. The first clinical presentation of the genetic immunodeficiency dates back to when the child was aged 2 y and 10 mo, when he presented a multi-focal osteomyelitis caused by Mycobacterium scrofulaceum. The diagnosis of IFN-γR1 deficiency (523delT/523delT in IFNGR1 gene) was subsequently made. The child responded to antibiotic therapy and remained in stable clinical condition until the age of 11 years, when he started complaining of frontal, chronic headache. MRI revealed a solid pineal region mass lesion measuring 20 × 29 × 36 mm. Histological findings revealed a diagnosis of pineal germinoma. The patient received chemotherapy followed by local whole ventricular irradiation with boost on pineal site, experiencing complete remission, and to date he is tumor-free at four years follow-up. Four other cases of tumors have been reported in patients affected by MSMD in our knowledge: a case of Kaposi sarcoma, a case of B-cell lymphoma, a case of cutaneous squamous cell carcinoma and a case of oesophageal squamous cell carcinoma. In conclusion, in patients with MSMD, not only the surveillance of infectious diseases, but also that of tumors is important.

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Acknowledgments

We are grateful to “Fondazione Berlucchi” and “Associazione per la ricerca sui tumori cerebrali del bambino”, which support the assistance to patients with cerebral tumors. We are also grateful to Manuela Rescali for her secretarial assistance.

Conflict of Interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Infectious Disease Department, San Martino Hospital, University of Genova, 16100, Genoa, Italy

    L. Taramasso

  2. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA

    S. Boisson-Dupuis & J. L. Casanova

  3. Istituto Giannina Gaslini, Genoa, Italy

    M. L. Garrè, E. Bondi, A. Cama, P. Nozza & G. Morana

  4. Howard Hughes Medical Institute, Chevy Chase, USA

    J. L. Casanova

  5. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Imagine Institute, Necker Hospital for Sick Children, Paris, France

    J. L. Casanova

  6. Paris Descartes University, Paris, France

    J. L. Casanova

  7. Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, Paris, France

    J. L. Casanova

  8. Scuola di Scienze Mediche e Farmaceutiche, Università degli Studi di Genova, Genoa, Italy

    M. G. Marazzi

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  1. L. Taramasso
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  2. S. Boisson-Dupuis
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  7. G. Morana
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  8. J. L. Casanova
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  9. M. G. Marazzi
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Correspondence to L. Taramasso.

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Taramasso, L., Boisson-Dupuis, S., Garrè, M.L. et al. Pineal Germinoma in a Child with Interferon-γ Receptor 1 Deficiency. Case Report and Literature Review. J Clin Immunol 34, 922–927 (2014). https://doi.org/10.1007/s10875-014-0098-0

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  • DOI: https://doi.org/10.1007/s10875-014-0098-0

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