Reduced‐intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita

Nishio, Naomichi; Takahashi, Yoshiyuki; Ohashi, Haruhiko; Doisaki, Sayoko; Muramatsu, Hideki; Hama, Asahito; Shimada, Akira; Yagasaki, Hiroshi; Kojima, Seiji

doi:10.1111/j.1399-3046.2010.01431.x

Cited by 39 publications

(37 citation statements)

References 33 publications

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“…Therefore a procedure with reduced immunosuppression is currently proposed for patients with dyskeratosis congenita [29][30][31]. Some reports suggest that mycophenolate mofetil and azathioprine may be safely removed from the drug regimen following lung transplantation [28,32].…”

Section: Discussionmentioning

confidence: 99%

“…None of the treatment was associated with any objective pulmonary improvement assessed either by CT scan or an increase in VC or DLCO by 10% of the predicted value or greater. At the last visit before transplantation, VC and DLCO were 42% [75-22] and 22% [15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] of predicted, respectively.…”

Section: Clinical Characteristics At the Diagnosis Of Pulmonary Fibrosismentioning

confidence: 99%

See 1 more Smart Citation

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

Borie

Kannengiesser

Hirschi

et al. 2015

The Journal of Heart and Lung Transplantation

115

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Section: Discussionmentioning

confidence: 99%

Section: Clinical Characteristics At the Diagnosis Of Pulmonary Fibrosismentioning

confidence: 99%

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

Borie

Kannengiesser

Hirschi

et al. 2015

The Journal of Heart and Lung Transplantation

115

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“…Mismatch related or unrelated donors are still associated with a worse prognosis than HSCT from a sibling donor [62]. Fludarabine-containing non-myeloablative conditioning regimens are now increasingly used and might give better short-term results [63][64][65][66]. The literature is scarce on the subjects to draw strong statements.…”

Section: Dyskeratosis Congenita (Dc)mentioning

confidence: 99%

“…Fludarabine-containing non-myeloablative conditioning regimens are now increasingly used and might give better short-term results [64][65][66]70]. The overall data suggest long-term surveillance is important particularly for cancers and pulmonary complications both of which are likely to be secondary to the genetic defect that is not corrected by HSCT.…”

Section: Dyskeratosis Congenita (Dc)mentioning

confidence: 99%

Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

Dalle

Latour

2016

Int J Hematol

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“…2 Several reports have shown that despite being a bone marrow failure syndrome, the use of reduced intensity conditioning preparative regimens are safer, carries less morbidity and has no increased risk of graft failure or rejection. 1,8,[9][10][11][12][13] In some of these reports, however, the ex vivo T-cell depletion was with ATG and in general, the source of stem cells was nonumbilical cord blood stem cells. In both patients in this report, ATG was replaced with alemtuzumab, which has more in-depth lymphocyte depletion with the hope that this will decrease any chance for rejection.…”

Section: Patientmentioning

confidence: 99%

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

Brown

Myers

Shreve

et al. 2016

Bone Marrow Transplant

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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...

show abstract

Reduced‐intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita

Cited by 39 publications

References 33 publications

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

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

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