Rare solid tumors in a patient with Wiskott-Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature

Abstract

Background and aims: Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder characterized by severe eczema, recurrent infections, and micro-thrombocytopenia. Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative therapeutic option for patients with classic form. The risk of developing post-transplant tumors appears to be higher in patients with WAS than in other inborn errors of immunity (IEIs), but the actual incidence is not well defined, due to the scarcity of published data.

Methods: Herein, we describe a 10-year-old patient diagnosed with WAS, treated with HSCT in the first year of life, who subsequently developed two rare solid tumors, kaposiform hemangioendothelioma and desmoid tumor. A review of the literature on post-HSCT tumors in WAS patients has been performed.

Results: The patient received diagnosis of classic WAS at the age of 2 months (Zhu score = 3), confirmed by WAS gene sequencing, which detected the nonsense hemizygous c.37C>T (Arg13X) mutation. At 9 months, patient underwent HSCT from a matched unrelated donor with an adequate immune reconstitution, characterized by normal lymphocyte subpopulations and mitogen proliferation tests. Platelet count significantly increased, even though platelet count never reached reference values. A mixed chimerism was also detected, with a residual WASP- population on monocytes (27.3%). The patient developed a kaposiform hemangioendothelioma at the age of 5. A second abdominal tumor was identified, histologically classified as a desmoid tumor when he reached the age of 10 years. Both hematopoietic and solid tumors were identified in long-term WAS survivors after HSCT.

Conclusion: Here, we describe the case of a patient with WAS who developed two rare solid tumors after HSCT. An active surveillance program for the risk of tumors is necessary in the long-term follow-up of post-HSCT WAS patients.

Keywords: Wiskott Aldrich syndrome; case report; hemangioendothelioma kaposiform desmoid tumor; hematopoietic stem cell transplantation; inborn errors of immune system; malignancies.

Figure 1

(A) Kaposiform emangioendothelioma: lobules of tumor cells coalesce and the capillaries form solid sheets with occasional slit-like lumens (H&E, ×100). (B) Kaposiform hemangioendothelioma: in some areas, the endothelial cells have a prominent spindled appearance (H&E, ×200). (C) Kaposiform hemangiothelioma: lumens filled with red blood cells (H&E, ×400). (D) Desmoid fibromatosis: spindled fibroblasts are arranged in bundles (H&E, ×400).

Figure 2

Abdominal CT performed at the diagnosis. The expansive mass is located in the left hypochondrium, inseparable from the contiguous walls of the colon and in close proximity to the lower pole of the spleen (A–F).

Figure 3

Timeline of major clinical events of the patient. HSCT, hematopoietic stem cells transplantation; WAS, Wiskott–Aldrich syndrome; mo, months; yrs, years.