Malignancy and lymphoid proliferation in primary immune deficiencies; hard to define, hard to treat

Pediatr Blood Cancer. 2020 Feb;67(2):e28091. doi: 10.1002/pbc.28091. Epub 2019 Nov 17.

Abstract

Background: Regarding the difficulties in recognition and management of the malignancies in primary immune deficiencies (PIDs), we aimed to present the types, risk factors, treatment options, and prognosis of the cancers in this specific group.

Methods: Seventeen patients with PID who developed malignancies or malignant-like diseases were evaluated for demographics, clinical features, treatment, toxicity, and prognosis.

Results: The median age of malignancy was 12.2 years (range, 2.2-26). Lymphoma was the most frequent malignancy (n = 7), followed by adenocarcinoma (n = 3), squamous cell carcinoma (n = 2), cholangiocarcinoma (n = 1), Wilms tumor (n = 1), and acute myeloid leukemia (n = 1). Nonneoplastic lymphoproliferation mimicking lymphoma was observed in five patients. The total overall survival (OS) was 62.5% ± 12.1%. The OS for lymphoma was 62.2% ± 17.1% and found to be inferior to non-PID patients with lymphoma (P = 0.001).

Conclusion: In patients with PIDs, malignancy may occur and negatively affect the OS. The diagnosis can be challenging in the presence of nonneoplastic lymphoproliferative disease or bone marrow abnormalities. Awareness of susceptibility to malignant transformation and early diagnosis with multidisciplinary approach can save the patients' lives.

Keywords: cancer; lymphoid proliferation; lymphoma; malignancy; primary immune deficiency; prognosis.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Lymphoid Tissue / pathology*
  • Lymphoma / classification*
  • Lymphoma / diagnosis*
  • Lymphoma / etiology
  • Lymphoma / therapy
  • Male
  • Primary Immunodeficiency Diseases / complications*
  • Primary Immunodeficiency Diseases / pathology
  • Prognosis
  • Survival Rate
  • Young Adult