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Acute lymphoid leukemia associated with Maffucci's syndrome
J T Rector1, C L Gray, R W Sharpe
1Department of Laboratory Medicine, Naval Hospital, San Diego, California 92134-5000.
The American Journal of Pediatric Hematology/Oncology
|November 1, 1993
Summary
Maffucci's syndrome, a rare disorder, is linked to enchondromas and hemangiomas. This case highlights an extremely rare occurrence of acute lymphoid leukemia in a patient with Maffucci's syndrome, emphasizing the need for vigilant monitoring.
Area of Science:
- Rare congenital disorders
- Oncology
- Hematology
Background:
- Maffucci's syndrome is a rare, nonhereditary congenital disorder characterized by multiple enchondromas and soft tissue hemangiomas or lymphangiomas.
- It is associated with a significantly increased risk of malignant neoplasms, primarily sarcomatous transformation of enchondromas.
- Hematopoietic malignancies are exceptionally rare complications of Maffucci's syndrome.
Observation:
- A 14-year-old female patient with Maffucci's syndrome presented with symptoms including fatigue, epistaxis, ecchymosis, and weight loss.
- Peripheral blood examination revealed circulating leukemic blasts.
- Bone marrow biopsy confirmed acute lymphoblastic leukemia with myeloid antigen expression.
Findings:
- The patient was diagnosed with Maffucci's syndrome at age 10, following an initial presentation of enchondromatosis at 18 months.
- The development of acute lymphoblastic leukemia (ALL) in this patient is an exceedingly rare event.
- Immunohistochemical and flow cytometry analyses confirmed the ALL diagnosis.
Implications:
- The occurrence of acute leukemia in Maffucci's syndrome may indicate a predisposition to multiple malignancies.
- This case suggests a potential generalized mesodermal dysplasia in affected individuals.
- It underscores the critical importance of aggressive surveillance for malignancies in patients diagnosed with Maffucci's syndrome.