Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F24%3A10466816" target="_blank" >RIV/00064203:_____/24:10466816 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/24:10466816

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=0pUY.IS43G" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=0pUY.IS43G</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3324/haematol.2023.283591" target="_blank" >10.3324/haematol.2023.283591</a>

Result language

angličtina

Original language name

Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

Original language description

Monosomy 7 is the most common cytogenetic abnormality in pediatric myelodysplastic syndrome (MDS) and associated with a high risk of disease progression. However, in young children, spontaneous loss of monosomy 7 with concomitant hematologic recovery has been described, especially in the presence of germline mutations in SAMD9 and SAMD9L genes. Here, we report on our experience of close surveillance instead of upfront hematopoietic stem cell transplantation (HSCT) in seven patients diagnosed with SAMD9L syndrome and monosomy 7 at a median age of 0.6 years (0.4-2.9). Within 14 months from diagnosis, three children experienced spontaneous hematological remission accompanied by a decrease in monosomy 7 clone size. Subclones with somatic SAMD9L mutations in cis were identified in five patients, three of whom attained hematological remission. Two patients acquired RUNX1 and EZH2 mutations during the observation period, of whom one progressed to MDS with excess of blasts (MDS-EB). Four patients underwent allogeneic HSCT at a median time of 26 months (14-40) from diagnosis for MDS-EB, necrotizing granulomatous lymphadenitis, persistent monosomy 7, and severe neutropenia. At last follow-up, six patients were alive, while one passed away due to transplant-related causes. These data confirm previous observations that monosomy 7 can be transient in young children with SAMD9L syndrome. However, they also indicate that delaying HSCT poses a substantial risk of severe infection and disease progression. Finally, surveillance of patients with SAMD9L syndrome and monosomy 7 is critical to define the evolving genetic landscape and to determine the appropriate timing of HSCT.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30205 - Hematology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Haematologica

ISSN

0390-6078

e-ISSN

1592-8721

Volume of the periodical

109

Issue of the periodical within the volume

2

Country of publishing house

IT - ITALY

Number of pages

9

Pages from-to

422-430

UT code for WoS article

001159263700002

EID of the result in the Scopus database

2-s2.0-85184136559