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CD18 deficiency evolving to megakaryocytic (M7) acute myeloid leukemia: case report
Dewton de Moraes Vasconcelos1, Beatriz Beitler2, Gracia A Martinez2
1Medical Investigation Laboratory Unit 56 (LIM/56), Faculdade de Medicina da Universidade de São Paulo, Brazil; Primary Immunodeficiency Outpatient Unit (ADEE-3003), Faculdade de Medicina da Universidade de São Paulo, Brazil.
Abstract:
Leukocyte adhesion deficiency type 1 (LAD 1 - CD18 deficiency) is a rare disease characterized by disturbance of phagocyte function associated with less severe cellular and humoral dysfunction. The main features are bacterial and fungal infections predominantly in the skin and mucosal surfaces, impaired wound healing and delayed umbilical cord separation. The infections are indolent, necrotic and recurrent. In contrast to the striking difficulties in defense against bacterial and fungal microorganisms, LAD 1 patients do not exhibit susceptibility to viral infections and neoplasias. The severity of clinical manifestations is directly related to the degree of CD18 deficiency. Here, a 20 year-old female presenting a partial CD18 deficiency that developed a megakaryocytic (M7) acute myeloid leukemia is described for the first time. The clinical features of the patient included relapsing oral thrush due to Candida, cutaneous infections and upper and lower respiratory tract infections, followed by a locally severe necrotic genital herpetic lesion. The patient's clinical features improved for a period of approximately two years, followed by severe bacterial infections. At that time, the investigation showed a megakaryocytic acute myeloid leukemia, treated with MEC without clinical improvement. The highly aggressive evolution of the leukemia in this patient suggests that adhesion molecules could be involved in the protection against the spread of neoplastic cells.
Insights
Leukocyte adhesion deficiency type 1 (LAD 1), a rare CD18 deficiency, typically doesn't increase cancer risk. This case report details a patient with LAD 1 who developed acute myeloid leukemia, suggesting a potential link between adhesion molecules and cancer spread.
Area of Science:
- Immunology
- Hematology
- Oncology
Background:
- Leukocyte adhesion deficiency type 1 (LAD 1), characterized by CD18 deficiency, impairs phagocyte function, leading to recurrent bacterial and fungal infections.
- Patients with LAD 1 typically do not exhibit increased susceptibility to viral infections or neoplasias.
Observation:
- A 20-year-old female with partial CD18 deficiency presented with recurrent infections, including oral thrush, cutaneous, and respiratory infections, and a severe necrotic herpetic lesion.
- After a period of improvement, the patient developed severe bacterial infections, followed by the diagnosis of megakaryocytic (M7) acute myeloid leukemia.
Findings:
- This is the first reported case of a patient with LAD 1 developing acute myeloid leukemia.
- The patient's leukemia was highly aggressive and did not respond to MEC treatment.
Implications:
- The aggressive nature of the leukemia in this LAD 1 patient suggests a potential role for adhesion molecules in preventing the dissemination of neoplastic cells.
- This case highlights a potential, albeit rare, association between CD18 deficiency and the development of myeloid leukemia.
