Rothmund-Thomson Syndrome, Malignant Diseases, and Treatment Opportunities

Abstract

We read with interest the paper from I. Ilhan and coworkers, recently published in Pediatric Hematology and Oncology, reporting the case of a child with Rothmund-Thomson syndrome (RTS) who presented at the age of 9 years with a malignant fibrous histiocytoma of the femur [ 11. We would like to comment on the issue of the treatment of RTS patients presenting with malignancies, on the basis of a personal experience and the literature data.Rothmund-Thomson syndrome is a rare congenital dermatosis, characterized by multiple extracutaneous abnormalities, that is associated with an increased incidence of cancers, usually involving the bones and skin, which may be secondary to a constitutional DNA-repair defect. Most of the reported cases of RTS presenting with neoplastic diseases are young males, and their outcome is usually poor [2]. The child reported by Ilhan underwent amputation of the leg and intensive antineoplastic treatment but, due to the appearance of lung metastasis, further treatment was not administered. The authors conclude the case report by encouraging the "search for new diagnostic and therapeutic approaches" to be used in further similar cases.We have recently observed a child with RTS who presented at the age of 6 years with myelodysplastic syndrome and underwent successfully allogeneic bone marrow transplantation (BMT) from his genotypically matched sister. The BMT preparation regimen consisted of busulfan and cyclophosphamide at standard doses and was well tolerated; the transplant course was free of unexpected toxicity. At the present time the patient remains alive, in good clinical condition, and in continuous com-

Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype

“…Besides neutropenia, myelodysplasia could be another distinctive feature of PN, as pointed out in previous reports [Pianigiani et al, 2001;Van Hove et al, 2005;Mostefai et al, 2008]. The detection of C16orf57 mutations in the patient described by Pianigiani et al [2001] is consistent with the opinion that a few patients previously reported as RTS [Rizzari and Conter, 1996] who also show myelodysplasia probably belong to this syndromic entity.…”

Rothmund‐Thomson Syndrome (Thomson‐Type) and Myelodysplasia

“…Myelodysplastic syndromes, rarely observed in the pediatric age group, are hematopoietic disorders having inadequate production of one or more cell lines with accompanying morphologic abnormalities and a highly malignant progression (15). Bone marrow transplantation may be required in cases of RTS with myelodysplasia (16). Our patient is classified as Thomson‐type RTS, in view of the lack of juvenile cataracts, consanguinity, and hypogonadism.…”

Rothmund–Thomson Syndrome with Myelodysplasia

“…In that instance the patient was a 6‐year‐old boy with myelodysplasia of the same subgroup as our patient. This child had a successful allogeneic bone marrow transplantation from his sister, and 2 years later remained in remission (9). Normal routine karyotypes have been demonstrated in many patients with RTS (10,11), although mosaicism for chromosome 8 has been reported (12), as has monosomy 7 (13).…”