ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms

Sullivan, Mia J.; Palmer, Elizabeth L; Botero, Juliana Perez

doi:10.1007/s11899-022-00666-4

Cited by 14 publications

(16 citation statements)

References 39 publications

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“…Out of range 11,12 Its mRNA expression is rich in tissues such as the brain, pituitary gland, and lymphocytes. 13 Mutations in the 5 0 -UTR are typically associated with thrombocytopenia and can be referred to as ANKRD26related thrombocytopenia (ANKRD26-RT) with normal platelet size, absent to mild bleeding, and an increased risk for developing myeloid malignancies.…”

Section: Lab Resultsmentioning

confidence: 99%

“…13 Mutations in the 5 0 -UTR are typically associated with thrombocytopenia and can be referred to as ANKRD26related thrombocytopenia (ANKRD26-RT) with normal platelet size, absent to mild bleeding, and an increased risk for developing myeloid malignancies. 12,13 Although few dermatological cases associated with ANKRD26 mutations have been reported, a case of epidermodysplasia verruciformis in a pediatric female has been associated with the mutation. 13 It remains unknown whether further dermatological diseases are associated with ANKRD26 mutations.…”

Section: Lab Resultsmentioning

confidence: 99%

“…This case represents a gene mutation in JXG that has not been previously reported in the literature to be associated with NLCH in pediatric or adult cases, nor cutaneous or systemic involvement (Table 2). ANKRD26 is a gene located on chromosome 10p12.1 that is associated with megakaryocyte differentiation 11,12 . Its mRNA expression is rich in tissues such as the brain, pituitary gland, and lymphocytes 13 .…”

Section: Discussionmentioning

confidence: 99%

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Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non‐Langerhans cell histiocytosis: Case report and literature review

et al. 2023

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Cutaneous non‐Langerhans cell histiocytosis (NLCH) is a rare and biologically benign entity that can be broadly classified into two categories: xanthogranuloma and non‐xanthogranuloma. The xanthogranuloma family is characterized by a proliferation of histiocytes with both macrophage and dendritic cell differentiation, negative BRAF mutation, and rare Touton‐type giant cells. Molecular studies have reported that mutations involved in the MAPK signaling pathways are implicated in the pathophysiology of histiocytoses. While LCH is associated with the somatic mutation of BRAF v600e, however, mutations and gene fusions in NLCH cases are undefined. We hereby present a 19‐month‐old female with recalcitrant nodular rashes diagnosed as NLCH with associated novel genetic mutation involving ANKRD26 and PDGFRB genes, as well as PDGFRB::CD74 fusion mRNA. Immunohistochemical staining showed strong and diffuse CD68 and CD163 positivity, and negative CD1a, CD207, ALK D5F3, S100 protein, and BRAF V600E (VE1). Albeit unknown significance, this case of an ANKRD26 and PDGFRB gene mutation in cutaneous NLCH has not been reported prior in the literature. Our case highlights the advantage of pathology and genetic studies in cutaneous NLCH to increase the understanding of this heterogeneous enigmatic disorder and identify further options in management.

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Section: Lab Resultsmentioning

confidence: 99%

Section: Lab Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non‐Langerhans cell histiocytosis: Case report and literature review

et al. 2023

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“…[13] Currently, vast majority of the causative variants were detected in a 19-nucleotide region of the 5ʹuntranslated region (UTR)(c.-116 through c.-134). [13,14] Besides, the penetrance of the thrombocytopenic trait in patients with ANKRD26-RT is complete and degree of thrombocytopenia variable, but typically it is mild to moderate. [14] This case had no thrombocytopenia during his childhood and his mother has a normal platelet count.…”

Section: Discussionmentioning

confidence: 99%

Autoimmune hemolytic anemia and thrombocytopenia in a Chinese patient with heterozygous NBAS mutations: Case report

Yang,

Fei,

Lei

et al. 2024

Medicine

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Rationale: Neuroblastoma amplified sequence (NBAS)-associated disease is an autosomal recessive disorder and a broad spectrum of clinical symptoms has been reported. However, autoimmune mediated hemolytic anemia (AIHA) is rarely reported in NBAS disease. Patient concerns: A now 21-year-old male harbors heterozygous variants of c.6840G>A and c.335 + 1G>A and was found had retarded growth, hypogammaglobulinemia, B lymphopenia, optic atrophy, horizontal nystagmus, slight splenomegaly and hepatomegaly since childhood. This case had normal hemoglobin level and platelet count in his childhood. He developed AIHA first in his adulthood and then thrombocytopenia during the treatment of AIHA. The mechanism underlying a case with pronounced hypogammaglobulinemia and B lymphopenia is elusive. In addition to biallelic NBAS mutations, a germline mutation in the ANKRD26 (c.2356C>T) gene was also detected. So either autoimmune or ANKRD26 mutation-mediated thrombocytopenia is possible in this case. Intervention and outcome: He was initially managed with steroid and intermittent intravenous immunoglobulin supplement. After treatment, he responded well with a normalization of hemoglobin and serum bilirubin. But the patient subsequently experienced severe thrombocytopenia in addition to AIHA. He was then given daily avatrombopag in addition to steroid escalation. He responded again to new treatment, with the hemoglobin levels and platelet counts went back to the normal ranges. Now he was on de-escalated weekly avatrombopag and low-dose steroids maintenance. Conclusion: The phenotype of this case indicates that c.335 + 1G>A NBAS variant is probably a pathogenic one and c.2356C>T ANKRD26 variant is improbably a pathogenic one. AIHA may respond well to steroid even when happened in patients with NBAS disease.

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“…For some genes, the coverage is still low; this needs to be specified and documented on the final report and, ideally, Sanger sequencing of these gene regions has to be performed to exclude that disease-causing variants remain undetected. Finally, it has to be specified which genes are analyzed: (1) unrelated oncogenic or preleukemic genes are not to be analyzed; (2) certain disease-relevant genes like RUNX1 , 26 ETV6 , 34 or ANKRD26 28 harbor an increased risk to develop leukemia. Patients (or parents) need to actively specify whether they want these genes to be looked at and whether they want to have this information revealed; (3) identified variants might not explain the underlying disease of the patient, but could have information on a carrier status that could become clinically relevant: heterozygous mutations in F8 might not explain a platelet-based bleeding phenotype, but could become relevant when a (future) son inherited the affected gene and developed hemophilia.…”

Section: From Candidate Screening To Whole Genome Sequencingmentioning

confidence: 99%

State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders

Gebetsberger,

Mott,

Bernar

et al. 2023

Hamostaseologie

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Inherited platelet disorders (IPDs) are a heterogeneous group of rare entities caused by molecular divergence in genes relevant for platelet formation and function. A rational diagnostic approach is necessary to counsel and treat patients with IPDs. With the introduction of high-throughput sequencing at the beginning of this millennium, a more accurate diagnosis of IPDs has become available. We discuss advantages and limitations of genetic testing, technical issues, and ethical aspects. Additionally, we provide information on the clinical significance of different classes of variants and how they are correctly reported.

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ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms

Cited by 14 publications

References 39 publications

Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non‐Langerhans cell histiocytosis: Case report and literature review

Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non‐Langerhans cell histiocytosis: Case report and literature review

Autoimmune hemolytic anemia and thrombocytopenia in a Chinese patient with heterozygous NBAS mutations: Case report

State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders

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