Jelena Rascon, Lithuania

Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos Center for Pediatric Oncology and Hematology

Presenter of 1 Presentation

Poster Display Malignancy and PID

AN EARLY-ONSET ADAMANTINOMATOUS CRANIOPHARYNGIOMA FOLLOWING SUCCESSFUL HEMATOPOIWTIC STEM CELL TRANSPLANTATION FOR SCID CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN DCLRE1C GENE

Lecture Time
11:18 - 11:19
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
85
Presentation Topic
Malignancy and PID

Abstract

Background and Aims

ARTEMIS plays an important role in somatic recombination of VDJ genes. Mutations in ARTEMIS complex result in hypersensitivity to DNA double strand break-inducing agents. Pediatric craniopharyngioma (CPG) usually presents at the age of 5-10 years.

Methods

We describe a case of CPG diagnosed at the age of 2 years 4 months in a child who underwent a HSCT because of SCID due to the mutation in DLCRE1C gene.

Results

A 10 month old boy from non-consanguineous parents presented with severe skin erythema, respiratory insufficiency caused by Parainfluenza virus 3, failure to thrive. Since 6 months of age he underwent several episodes of respiratory and gastrointenstinal infections. Laboratory evaluation detected low lymphocyte count and immune globulin level. Next-generation sequencing revealed two missense variants (c.103C>G and novel c.53G>T) in DCLRE1C gene. An allogeneic HSCT from MUD was performed at the age of 12 months following preparative regimen containing Fludarabin/Treosulfan/Campath. After the engraftment the patient developed an acute GvHD grade III and disseminated BCG infection. Fifteen months after HSCT at the age of 2 year 3 months the patient was off immune suppression but continuing isoniazid/rifampicin when tumor mass was detected in suprasellar region. The total tumor resection revealed an adamaninomatous CPH.

Conclusions

It is known from other conditions (e.g. Fanconi anemia) that HSCT does not eliminate, or even increase, the risk of cancer in conditions with hereditary DNA repair defects. Our case suggests that presence of mutations in DCLRE1C gene could predispose non-immune cells to clonal evolution even after successful replacement of immune system.

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