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Constitutional Mismatch Repair Deficiency (CMMRD) is a rare cancer predisposition syndrome, presenting in childhood, in which affected patients develop various malignancies such as hematological, gastrointestinal and central nervous system tumors. Although guidelines are being increasingly developed for surveillance and early detection of cancers in affected families, there are no clear recommendations regarding choice of therapy and very scarce information about tolerance to chemotherapy and radiation in these patients. We report the pedigree of a consanguineous family with four affected children. Although clinical and molecular tests confirm CMMRD, genetic testing revealed heterogeneous mutations. The index case developed severe toxicity from therapy for glioblastoma and T-cell leukemia and died from an infection while in complete remission. His sister developed a malignant brain tumor while undergoing surveillance for a low grade brain lesion and is still undergoing follow-up. This family illustrates the difficulties and opportunities with challenging diagnosis, surveillance and choice of therapy for children with CMMRD and the need for increased awareness and more information about this rare but important syndrome.

We treated 2 patients with progressive, refractory scleroderma with a combined immunotherapy approach using plasmapheresis followed by rituximab and then intravenous umbilical-cord-derived allogeneic mesenchymal stem cells (MSCs). Both patients improved subjectively and objectively for over a year. Upon recurrence of their symptoms, the patients were treated again with allogeneic MSCs alone with a very good response. The combination was well tolerated and effective suggesting a large scale study may be warranted in progressive, refractory Scleroderma.