Allogeneic bone marrow transplantation for Pearson's syndrome

Faraci, Maura; Cuzzubbo, Daniela; Micalizzi, Concetta; Lanino, Edoardo; Morreale, Giuseppe; Dallorso, Sandro; Castagnola, Elio; Schiaffino, M. C.; Bruno, Claudio; Rossi, Andrea; Dini, Giorgio; Cappelli, Barbara

doi:10.1038/sj.bmt.1705638

Cited by 20 publications

(27 citation statements)

References 7 publications

(9 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Deletions of chromosome 7 in PD have not yet been reported, except after a double myeloablative therapy with reinfusion of PBSC 5. Our patient had a successful hematopoietic transplant with correction of hematologic and non‐hematologic features.…”

mentioning

confidence: 69%

Cord blood transplantation in a child with Pearson's disease

Hoyoux

Dresse

Robinet

et al. 2008

Pediatric Blood & Cancer

View full text Add to dashboard Cite

mentioning

confidence: 69%

Cord blood transplantation in a child with Pearson's disease

Hoyoux

Dresse

Robinet

et al. 2008

Pediatric Blood & Cancer

View full text Add to dashboard Cite

“…BM aspirate revealed tri‐linear hypoplasia and cytoplasm vacuolization in myeloid precursors. Due the worsening of the hematological involvement, at 7.5 years of age the patient, as earlier reported [Faraci et al, 2007], received unrelated hematopoietic stem cell transplantation (HSCT). After engraftment, mtDNA deletion disappeared in leukocytes thus confirming a complete resolution of the hematological involvement, and no metabolic acidosis was present.…”

Section: Clinical Reportmentioning

confidence: 82%

“…It is well known that congenital BM failure syndromes with alteration of DNA repair are associated with leukemia [Calado, 2009], but it has never been reported whether PS has a potential capability of malignant transformation. We posit that in this patient leukemia was secondarily induced by high dose chemotherapy and prolonged immunosuppressive treatment against GvHD [Faraci et al, 2007].…”

Section: Discussionmentioning

confidence: 99%

“…Two experiences of allogeneic HSCT in patients with PS have been reported in literature. One describes our patient 2 [Faraci et al, 2007] and the other reports the case of a 3‐year‐old PS patient treated with UCBT: 3 years after the procedure the boy was doing well with complete engraftment of all cell lineages; acidosis and lactacidemia, as well as biological and morphological hepatic abnormalities, had resolved too [Hoyoux et al, 2008].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Clinical manifestations and management of four children with Pearson syndrome

Tumino

Meli

Farruggia

et al. 2011

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Pearson marrow‐pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non‐hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease. © 2011 Wiley Periodicals, Inc.

show abstract

“…Bicarbonate supplementation and dichloroacetic acid have also been used to treat persistent metabolic acidosis. Previous studies have reported the case of two patients with PS, who were treated with allogeneic hematopietic stem cell transplantation (HSCT) (21,22). The procedure was shown to correct the hematological and metabolic abnormalities in the two patients; therefore, allogeneic HSCT may be a viable treatment option for patients with PS whose prognosis is uniformly fatal if left untreated.…”

Section: Discussionmentioning

confidence: 99%

Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report

Park

Ryu

Jang

et al. 2014

Molecular Medicine Reports

View full text Add to dashboard Cite

Pearson marrow‑pancreas syndrome (PS) is a progressive multi‑organ disorder caused by deletions and duplications of mitochondrial DNA (mtDNA). PS is often fatal in infancy, and the majority of patients with PS succumb to the disease before reaching three‑years‑of‑age, due to septicemia, metabolic acidosis or hepatocellular insufficiency. The present report describes the case of a four‑month‑old infant with severe normocytic normochromic anemia, vacuolization of hematopoietic precursors and metabolic acidosis. After extensive clinical investigation, the patient was diagnosed with PS, which was confirmed by molecular analysis of mtDNA. The molecular analysis detected a novel large‑scale (5.712 kb) deletion spanning nucleotides 8,011 to 13,722 of mtDNA, which lacked direct repeats at the deletion boundaries. The present report is, to the best of our knowledge, the first case reported in South Korea.

show abstract

Allogeneic bone marrow transplantation for Pearson's syndrome

Cited by 20 publications

References 7 publications

Cord blood transplantation in a child with Pearson's disease

Cord blood transplantation in a child with Pearson's disease

Clinical manifestations and management of four children with Pearson syndrome

Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report

Contact Info

Product

Resources

About