A patient with severe combined immunodeficiency (SCID) may develop dermatofibrosarcoma protuberans, which is a low-grade sarcoma.
Chromosome aberration in DMSF: t[17;22][q22;q13]
Fusion gene: COL1A1-platelet-derived growth factor beta (PDGFB)
Type of SCID: adenosine deaminase deficiency (with mutations in ADA)
Clinical findings:
(1) The patient may develop medallion-like dermal dendrocytic hamartomas (MDDH).
(2) The DFSPs may be multicentric.
Laboratory findings:
(1) lymphopenia with marked reduction in T, B and NK cells
Pathologic findings:
(1) The DFSP may lack the classic storiform histology.
(2) The spindle cells should be CD34 positive (spindle cells in MDDH also CD34+)..
A patient with ADA-deficiency type SCID should have lifelong surveillance for DFSP.
