Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency

Chimene Kesserwan, Robert Sokolic, Edward W. Cowen, Elizabeth Garabedian, Kerstin Heselmeyer-Haddad, Chyi Chia Richard Lee, Stefania Pittaluga, Clarymar Ortiz, Kristin Baird, Dolores Lopez-Terrada, Julia Bridge, Alan S. Wayne, Fabio Candotti

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


Background: Dermatofibrosarcoma protuberans (DFSP) is a rare malignant skin tumor associated with a characteristic chromosomal translocation (t[17;22][q22;q13]) resulting in the COL1A1-platelet-derived growth factor β (PDGFB) fusion gene. This malignancy is rarely diagnosed in childhood. Objective: We observed an unexpected high incidence of this DFSP in children affected with adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) and set out to evaluate the association of these 2 clinical entities. Methods: Twelve patients with ADA-SCID were evaluated with a complete dermatologic examination and skin biopsy when indicated. Conventional cytogenetic and molecular analyses (fluorescence in situ hybridization, RT-PCR, or both) were performed when possible. Results: Eight patients were found to have DFSP. Six patients had multicentric involvement (4-15 lesions), primarily of the trunk and extremities. Most lesions presented as 2- to 15-mm, round atrophic plaques. Nodular lesions were present in 3 patients. In all cases CD34 expression was diffusely positive, and diagnosis was confirmed either by means of cytogenetic analysis, molecular testing, or both. The characteristic DFSP-associated translocation, t(17;22)(q22;q13), was identified in 6 patients; results of fluorescence in situ hybridization were positive for fusion of the COL1A1 and PDGFB loci in 7 patients; and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients. Conclusions: We describe a previously unrecognized association between ADA-SCID and DFSP with unique features, such as multicentricity and occurrence in early age. We hypothesize that the t(17;22)(q22;q13) translocation that results in dermal overexpression of PDGFB and favors the development of fibrotic tumors might arise because of the known DNA repair defect in patients with ADA-SCID. Although the natural course of DFSP in the setting of ADA-SCID is unknown, this observation should prompt regular screening for DFSP in patients with ADA-SCID.

Original languageEnglish (US)
Pages (from-to)762-769.e1
JournalJournal of Allergy and Clinical Immunology
Issue number3
StatePublished - Mar 2012


  • Severe combined immunodeficiency
  • adenosine
  • adenosine deaminase
  • dermatofibrosarcoma
  • fibrosis

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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