Baseline dysmegakaryopoiesis in inherited thrombocytopenia/platelet disorder with predisposition to haematological malignancies

Fournier, Élise; Debord, Camille; Soenen, Valérie; Trillot, Nathalie; Gonzales, Fanny; Tintiller, Véronique; Terriou, Louis; Derrieux, Coralie; Chahla, Wadih Abou; Paris, Camille; Berthon, Céline; Boyer, Thomas D.; Lambilliotte, Anne; Boisseau, Pierre; Wuillème, Soraya; Fouassier, Marc; Susen, Sophie; Preudhomme, Claude; Duployez, Nicolas

doi:10.1111/bjh.16543

Cited by 13 publications

(7 citation statements)

References 15 publications

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“…In this context, they reported that only FPD-MM patients with germline RUNX1 variants had small megakaryocytes with separated nuclei. 6 Consistent with these reports, our study demonstrated that the common hematologic morphologic finding in FPD-MM had normal-sized platelets and megakaryocyte dysplasia (Figure 1C-G). Additionally, trilineage dysplasia was observed in one patient with a DN-type RUNX1 variant (UPN-1596), without dysplasia other than the megakaryocytic lineage observed in six patients with LOF-type RUNX1 variants.…”

supporting

confidence: 91%

Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort

et al. 2023

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supporting

confidence: 91%

Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort

et al. 2023

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“…Multiple families with hereditary thrombocytopenia have been identified to have mutations within this same region of the 5′UTR. 7 - 18 Also, DNA sequence analysis of the APC gene demonstrated a variant of undetermined significance, which was a heterozygous sequence change located in the exon 16, c.4918 C>T.…”

Section: Resultsmentioning

confidence: 99%

Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome

Kewan

Noss

Godley

et al. 2020

Journal of Investigative Medicine High Impact Case Reports

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Thrombocytopenia 2 (THC2) is an autosomal dominant disorder characterized by ankyrin repeat domain 26 mutation and moderate thrombocytopenia. THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute myeloid leukemia. Germline evaluation for a genetic disorder should be considered when a patient presents with isolated thrombocytopenia and associated dysmegakaryopoiesis. In this case report, we present a male patient who presented with isolated thrombocytopenia but was ultimately confirmed to have an inherited THC2 thrombocytopenia/myelodysplastic syndrome. Given the rarity of the disease, no clear guidelines on how to follow THC2 patients over the long term have been established. We recommend a monthly complete blood count and clinical visits every 3 months at a minimum.

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“…Carriers usually have moderate thrombocytopenia, normal-sized platelets, and an absent to mild bleeding predisposition with normal platelet aggregation studies. Typical bone marrow morphology demonstrates dysmegakaryopoiesis with hypolobulated megakaryocytes 36–38,43 . Thrombopoietin levels are typically elevated.…”

Section: Myeloid Neoplasms With Germline Predisposition and A Preexis...mentioning

confidence: 99%

Germline Predisposition to Myelodysplastic Syndromes

Gener-Ricos¹,

Gerstein

Hammond³

et al. 2023

Cancer J

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While germline predisposition to myelodysplastic syndromes is well-established, knowledge has advanced rapidly resulting in more cases of inherited hematologic malignancies being identified. Understanding the biological features and main clinical manifestations of hereditary hematologic malignancies is essential to recognizing and referring patients with myelodysplastic syndrome, who may underlie inherited predisposition, for appropriate genetic evaluation. Importance lies in individualized genetic counseling along with informed treatment decisions, especially with regard to hematopoietic stem cell transplant–related donor selection. Future studies will improve comprehension of these disorders, enabling better management of affected patients and their families.

show abstract

Baseline dysmegakaryopoiesis in inherited thrombocytopenia/platelet disorder with predisposition to haematological malignancies

Cited by 13 publications

References 15 publications

Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort

Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort

Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome

Germline Predisposition to Myelodysplastic Syndromes

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