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Lipoblastoma presenting as a mesenteric mass in an infant
Y Posey1, E Valdivia, D L Persons
1Department of Pediatrics, University of Kansas Medical Center, Kansas City 66160-7358, USA.
Insights
A rare infant lipoblastoma caused significant abdominal mass and hypertension. Cytogenetic analysis identified a specific translocation on chromosome 8, a potential marker for this benign tumor.
Area of Science:
- Pediatric Oncology
- Medical Genetics
Background:
- Lipoblastoma is a rare, benign tumor of infancy characterized by rapid growth.
- Abdominal lipoblastomas can present as large masses, potentially causing organ compression and secondary medical issues like hypertension.
Observation:
- A 5-month-old infant presented with diarrhea and a large right-sided abdominal mass.
- Imaging revealed a hypodense mass compressing the right kidney, causing hydronephrosis.
- Surgical exploration identified the mass adhered to the transverse colon and mesentery.
Findings:
- Histopathological examination confirmed the mass as an encapsulated lipoblastoma.
- Cytogenetic analysis revealed a 46,XX karyotype with a reciprocal translocation between chromosomes 2 and 8 (t(2;8)(q23;q11.2)).
Implications:
- Lipoblastoma, though benign, can lead to severe complications due to mass effect on adjacent organs.
- The translocation involving chromosome 8 band q11.2 may serve as a specific cytogenetic marker for lipoblastoma, aiding in diagnosis and understanding.
Purpose:
This article describes an infant with a large abdominal mass and hypertension.
Patient And Methods:
A 5-month-old infant girl with diarrhea of 1 week's duration and a large right-sided abdominal mass was brought for treatment. Computed tomography of the abdomen revealed a large, generally homogeneous, hypodense mass, which compressed the right kidney, resulting in dilatation of the right renal collecting system. At surgery, the mass was adherent anteriorly to the transverse colon and attached by a stalk to the mesentery near the origin of the right colic artery.
Results:
Examination of the mass showed an encapsulated lipoblastoma. Cytogenetic analysis revealed a 46,XX karyotype with a reciprocal translocation between chromosome 2 and chromosome 8 with breakpoints at q23 and q11.2, respectively.
Conclusion:
Lipoblastoma is a rapidly growing but benign tumor, which can cause severe medical problems by compressing major organs. Cytogenetic analysis can reveal translocations involving chromosome 8 band q11.2, which appears to be a specific chromosome marker for lipoblastoma.
