XLP is an erythroid porphyria that results in variable cutaneous photosensitivity due to accumulation of protoporphyrin. The genetic defect in XLP is mutation of the gene ALAS2, resulting in gain of function for the erythroid enzyme 5-aminolevulinate synthase 2. Previous reports have shown that protoporphyrin-induced liver disease may also occur in XLP, occasionally severe enough to warrant liver transplantation; however, transplantation may be followed by injury to the graft due to continued presence of the underlying metabolic disorder in the bone marrow. We present a case of XLP with severe liver disease successfully treated with HPCT to avoid liver transplantation. The case also demonstrates the feasibility of reduced intensity transplant to provide engraftment sufficient for correction of porphyria and tolerability of reduced intensity conditioning containing TLI in the face of severe liver injury.

Reduced intensity conditioning regimen with fludarabine, cyclophosphamide, low dose TBI and alemtuzumab leading to successful unrelated umbilical cord stem cell engraftment and survival in two children with dyskeratosis congenita Bone Marrow Transplantation (2016) 51, 744-746; doi:10.1038/ bmt.2015; published online 25 January 2016 Dyskeratosis congenita (DC) is a rare genetic disorder characterized by a classic triad of physical findings consisting of nail dystrophy of the hands and/or feet, mucosal leukoplakia and reticular pigmentation of the skin, most commonly on the head, neck and trunk. 1 Bone marrow failure along with pulmonary complications and malignancies are all common causes of premature death in patients with DC as well as a myriad of other abnormalities. 2,3 Hematopoietic stem cell transplantation (HSCT) with fully myeloablative regimens has historically been the only curative treatment. 2,3 Attempts at reducing morbidity and mortality post HSCT with reduced intensity conditioning regimens instead of myeloablative regimens have been reported, and over the past decade, experience treating DC associated marrow failure with reduced intensity HSCT has increased. 4 Here we report the HSCT course of two patients with successful restoration of hematopoiesis following reduced intensity conditioning and unrelated cord blood transplant (see Table 1 for patient descriptions).Patient 1 Patient 1 is a 9-year-old white male with a history of macrocephaly. He was diagnosed with severe aplastic anemia at the age of 5 years. Approximately 1.5 years before this diagnosis, he had an event where the tip of his tongue became white, jagged and painful. He presented to his primary care physician where it was treated as a viral infection. Concomitantly, circular flat scalp lesions appeared on his head followed by hair loss and crusted patches. He also had a history of easy bruising for 18 months and dysplastic nails. He was hospitalized multiple times for immunosuppressant therapy with cyclosporine and antithymocyte globulin (ATG) over the previous year. A bone marrow biopsy was obtained and showed markedly hypocellular marrow with cellularity o10% on average and tri-lineage hypoplasia with no evidence of malignancy. Telomere length testing was done and shown to be less than the first percentile in all lymphocyte subset and granulocytes, supporting a diagnosis of DC. Genetic testing revealed heterozygosity for R282H mutation in the TINF2 gene. He was referred for allogeneic stem cell transplantation. He did not have a fully matched sibling and an extensive unrelated donor search did not reveal a fully matched unrelated donor nor a good size, well matched umbilical cord. He received 2 partially matched unrelated umbilical cords; 4/6 with a total neutrophil count (TNC) 9.2 x 10 7 and 5/6 with a TNC of 2.2 x 10 7 /kg. The preparative regimen consisted of cyclophosphamide 50 mg/kg x 1, fludarabine 40 mg/m 2 x 5, low dose TBI at 200cGy, and alemtuzumab 0.2 mg/kg x 5. GvHD prophylaxis consisted of tacrolimus and mycophenolate...

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Background: Stem cell transplantation is a potential curative procedure for many patients with hematologic malignancies. These patients because of age, co-morbid medical conditions and prior therapies can present in various physical conditions from good performance status to poor or frail. This may affect transplant outcome in terms of survival and relapse free survival. A component of our transplant program is a pre-transplant evaluation with cancer rehab specialists. Standard measures are obtained including the visual analog scales for pain and fatigue, timed up and go, and distress thermometer. An exercise program is prescribed for the patient prior to admission as well as during hospitalization and discharge. At day 60 after transplant these standard measures are reassessed. Our study aims to assess the relationship of measurable physical conditioning metrics and outcomes in survival, progression free survival, relapse rate and transplant related mortality. Methods: We conducted a retrospective review of 134 patients who have undergone hematopoietic stem cell transplantation with at least 60 days of follow-up. We collected the data from their pre-transplant cancer rehab evaluation and their 60 day post transplant evaluation including their Karnofsky Performance Status (KPS) score, timed up and go, fatigue and distress measurements. Using their KPS score patients were categorized as high performers (KPS >80) and low performers (KPS <70). Results: Our data showed there was increased survival of high performers compared to low performers (p=0.0270). Patients experienced significant decreases in pain scores, fatigue, and distress after transplant. There were no significant differences in progression free survival, relapse rate, or transplant related mortality between high performers and low performers. Conclusions: Physical conditioning can lead to better outcomes in terms of survival and symptoms; fatigue, pain, and distress. Future studies of rehab interventions are needed to better understand our observed survival and symptom benefit.