Clinical characteristics.

ANKRD26-related thrombocytopenia (ANKRD26-RT) is characterized by lifelong mild-to-moderate thrombocytopenia with normal platelet size and no syndromic associations. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding. Some individuals may have concomitant erythrocytosis and/or leukocytosis. The risk for myeloid malignancies (including myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelogenous leukemia) is increased in individuals with ANKRD26 pathogenic variants.

Diagnosis/testing.

The diagnosis of ANKRD26-RT is established in a proband by the presence of lifelong thrombocytopenia and a heterozygous pathogenic variant in ANKRD26 identified by molecular genetic testing.

Management.

Treatment of manifestations: Hemostatic agents (e.g., antifibrinolytics, desmopressin) for bleeding or major surgical procedures; platelet transfusions are reserved for severe bleeding or procedures with high bleeding risk. Treatment of myeloid neoplasm per oncologist with careful consideration of stem cell transplant eligibility and pre-transplant therapies at an institution with experience in the management of individuals with germline predisposition syndromes.

Surveillance: Surveillance for early detection of myeloid neoplasms should include annual evaluation by a hematologist with complete blood count including peripheral smear review, and if other cytopenias or abnormalities in mean corpuscular volume, cell morphology, or leukocyte differential are present, then additional bone marrow aspirate and biopsy with cytogenetic analysis and somatic myeloid next-generation sequencing testing.

Agents/circumstances to avoid: Avoiding non-selective nonsteroidal anti-inflammatories and aspirin for pain management is recommended in all individuals with thrombocytopenia and/or increased bleeding risk; if a myeloid neoplasm that requires allogeneic stem cell transplantation develops and a related donor is being considered, a donor who does not have the ANKRD26 pathogenic variant present in the family should be used.

Evaluation of relatives at risk: Offer molecular genetic testing for the familial ANKRD26 pathogenic variant to all older and younger at-risk relatives to identify as early as possible those who would benefit from prompt initiation of clinical surveillance for myeloid malignancy and targeted management of thrombocytopenia.

Pregnancy management: Platelet counts and bleeding complications should be monitored during pregnancy; platelet counts under 70,000/uL can limit the ability to receive epidural analgesia or neuraxial anesthesia. Strategies to increase platelet count (transfusion) or use of thrombopoietin agonists can be considered on an individual basis in consultation with the anesthesiologist, hematologist, and maternal-fetal medicine specialist.

Genetic counseling.

ANKRD26-RT is inherited in an autosomal dominant manner. To date, the great majority of individuals diagnosed with ANKRD26-RT have the disorder as the result of an ANKRD26 pathogenic variant inherited from a parent either known to be heterozygous based on molecular genetic testing or presumed to be heterozygous based on pedigree analysis or reported history of thrombocytopenia. (Note: Because the degree of thrombocytopenia varies within families and transient increase in platelet counts during inflammatory events may occur, molecular genetic testing is more accurate than assessment of thrombocytopenia for diagnosis of affected family members. Similarly, molecular genetic testing is beneficial to distinguish ANKRD26-RT from thrombocytopenia resulting from acquired causes, especially when prior platelet counts are not known.) Each child of an individual with ANKRD26-RT has a 50% chance of inheriting the ANKRD26 pathogenic variant. Once the ANKRD26 pathogenic variant has been identified in an affected family member, predictive testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.

Suggestive Findings

ANKRD26-RT should be suspected in individuals with the following:

• Lifelong mild-to-moderate thrombocytopenia (<150 x 10⁹/L, confirmed with repeat examination)
• Normal platelet size (mean platelet volume [fL] per reference interval of automated instrument or direct measurement of platelet size by light microscopy)
• Absent or minimal bleeding tendency with negative International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (ISTH-BAT)
• Acute myelogenous leukemia or myelodysplastic syndrome diagnosed at younger than age 50 years
• Myeloid malignancy in a proband with a personal or family history of thrombocytopenia
• Previous or suspected diagnosis of immune thrombocytopenia without improvement on immunosuppressive treatment
• Absence of features suggesting an alternative syndromic cause of thrombocytopenia

Family history of thrombocytopenia and/or myeloid neoplasms is consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

The diagnosis of ANKRD26-RT is established in a proband by the presence of lifelong thrombocytopenia and a heterozygous pathogenic variant in ANKRD26 identified by molecular genetic testing (see Table 1).

Molecular genetic testing approaches can include single-gene testing and use of a multigene panel.

• Single-gene testing. Sequence analysis of ANKRD26 should include the 5' untranslated region (5' UTR) to detect known regulatory pathogenic variants.
  Note: (1) Most individuals diagnosed with ANKRD26-RT to date have pathogenic variants that were identified by ANKRD26 sequence analysis, primarily of the 5' UTR; therefore, the utility of ANKRD26 deletion/duplication analysis is unclear. (2) A large structural rearrangement occurring from a paired duplication-inversion event was detected using long-read sequencing in a family with thrombocytopenia affecting multiple generations. The resulting fusion of the promoter and exon 1 of WAC with exons 10-34 of ANKRD26 lead to dysregulated megakaryopoiesis from increased production of truncated ankyrin repeat domain-containing protein 26 (ANKRD26). It is unclear if removing the N-terminal ankyrin repeats while retaining the coiled-coil domain of ANKRD26 shares the same pathophysiology with ANKRD26-RT resulting from variants in the 5' UTR [Wahlster et al 2021].
• A multigene panel that includes ANKRD26 and other genes of interest (see Differential Diagnosis) may be considered. Note: (1) The genes included and the sensitivity of multigene panels vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition while limiting identification of pathogenic variants and variants of unknown significance in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include custom laboratory-designed panels and/or custom phenotype-focused exome analysis. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests (5) The multigene panel should include sequence analysis of the ANKRD26 5' UTR.
  For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

Clinical Description

Individuals with ANKRD26-related thrombocytopenia (ANKRD26-RT) usually present with lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Incidental detection upon routine complete blood count is not uncommon. Some individuals are identified after developing a myeloid neoplasm such as acute myeloid leukemia or myelodysplastic syndrome.

Bleeding history. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding [Gresele et al 2020]. Standardized bleeding assessment with the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (ISTH-BAT) is recommended and expected to be negative (median of 3 in females with a positive cutoff of ≥6; median of 2 in males with a positive cutoff of ≥2). Individuals with a positive ISTH-BAT and platelet counts greater than 50,000/uL may have concomitant acquired or congenital platelet dysfunction, coagulation factor deficiencies, or other unrelated bleeding diathesis; such bleeding should not be attributed to ANKRD26-RT and may warrant further clinical evaluation.

Complete blood counts

• Mild-to-moderate thrombocytopenia (50 to 150 x 10⁹/L) is usually observed. Some individuals can have platelets as low as <10 x 10⁹/L, while others have transient correction of thrombocytopenia to >150 x 10⁹/L during infectious episodes.
• Platelet size is normal by automated method (mean platelet volume) or microscopic analysis.
• Platelets have normal granularity on light microscopy.
• Individuals can have erythrocytosis, with some presenting with hemoglobin as high as 18.5 g/dL.
• Some individuals present with leukocytosis.

Platelet structure and function studies. While abnormal platelet aggregation studies, decreased expression of platelet glycoprotein Ia (GPIa), decreased alpha-granules, and increased canalicular network on platelet transmission electron microscopy have been reported, no consistent or definitive structural or functional alterations have been established.

Bone marrow biopsy. On bone marrow biopsy, megakaryocytes are increased in number but small and hypolobated [Noris et al 2011, Perez Botero et al 2015].

Predisposition to myeloid malignancies. The incidence of myeloid malignancies, including myelodysplastic syndrome (MDS), acute myelogenous leukemia (AML), and chronic myelogenous leukemia, is increased in families with ANKRD26 pathogenic variants, with one series showing an estimated 24-fold increased risk of AML compared to the general population. Prevalence of AML or MDS among individuals with ANKRD26-RT is about 8% [Noris et al 2013].

Genotype-Phenotype Correlations

No consistent clinically relevant genotype-phenotype correlations are known.

Penetrance

Penetrance for thrombocytopenia is complete in individuals with an ANKRD26 pathogenic variant.

Prevalence

The exact prevalence is unknown. The incidence of inherited thrombocytopenia is estimated to be around 2.7 in 100,000 individuals, with ANKRD26-RT accounting for 15% of index cases [Balduini et al 2012]. Many individuals may remain undiagnosed.

Evaluations Following Initial Diagnosis

To establish the extent of disease and management needs in an individual diagnosed with ANKRD26-RT, the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Treatment of Manifestations

Most individuals are asymptomatic and undergo observation and surveillance. Supportive care may be needed to treat potential complications (see Table 4).

Surveillance

Guidelines have not been published on the type of testing or frequency of surveillance. To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 5 are recommended.

Agents/Circumstances to Avoid

Avoiding non-selective nonsteroidal anti-inflammatories and aspirin for pain management is recommended in all individuals with thrombocytopenia and/or increased bleeding risk. Aspirin for primary or secondary prevention of cardiovascular disease and anticoagulation, if clinically indicated, may be used in individuals with platelet counts greater than 50,000/uL. Careful consideration of the risk-benefit ratio is recommended in those with severe thrombocytopenia [Martin & Key 2016].

If a myeloid neoplasm that requires allogeneic stem cell transplantation develops and a related donor is being considered, a donor who does not have the ANKRD26 pathogenic variant present in the family should be used [Godley 2014].

Evaluation of Relatives at Risk

It is appropriate to offer molecular genetic testing for the familial ANKRD26 pathogenic variant to all older and younger at-risk relatives of an affected individual in order to identify as early as possible those who would benefit from prompt initiation of clinical surveillance for myeloid malignancy and targeted management of thrombocytopenia.

Note: The degree of thrombocytopenia varies within families and transient increase in platelet counts during inflammatory events may occur, making molecular genetic testing more accurate than assessment of thrombocytopenia for identification of affected relatives [Noris et al 2011]. Similarly, molecular genetic testing is beneficial to distinguish ANKRD26-RT from thrombocytopenia resulting from acquired (non-inherited) causes such as medications, viral infections, and pregnancy, especially when prior platelet counts are not known [Perez Botero & Di Paola 2021].

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Pregnancy Management

Platelet counts and bleeding complications should be monitored during pregnancy. While the thrombocytopenia itself (particularly if mild) is unlikely to affect the pregnancy, platelet counts under 70,000/uL can limit the ability to receive epidural analgesia or neuraxial anesthesia [Bauer et al 2021]. Strategies to increase platelet count (transfusion) or use of thrombopoietin agonists can be considered on an individual basis in consultation with the anesthesiologist, hematologist, and maternal-fetal medicine specialist.

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Mode of Inheritance

ANKRD26-related thrombocytopenia (ANKRD26-RT) is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

• To date, the great majority of individuals diagnosed with ANKRD26-RT have the disorder as the result of an ANKRD26 pathogenic variant inherited from a parent either known to be heterozygous based on molecular genetic testing or presumed to be heterozygous based on pedigree analysis or reported history of thrombocytopenia.
  Note: The degree of thrombocytopenia varies within families and transient increase in platelet counts during inflammatory events may occur, making molecular genetic testing more accurate than assessment of thrombocytopenia for diagnosis of affected relatives [Noris et al 2011]. Similarly, molecular genetic testing is beneficial to distinguish ANKRD26-RT from thrombocytopenia resulting from acquired (non-inherited) causes such as medications, viral infections, and pregnancy, especially when prior platelet counts are not known.
• An individual with a reportedly de novo pathogenic ANKRD26 variant was reported as part of a case series; however, maternity and paternity were not confirmed [Bastida et al 2023]. The proportion of probands with a de novo ANKRD26 pathogenic variant is unknown.
• If the proband appears to be the only affected family member (i.e., a simplex case), molecular genetic testing is recommended for the parents of the proband to evaluate their genetic status, inform recurrence risk assessment, and assess their need for surveillance for myeloid malignancies.
  Note: A proband may appear to be the only affected family member because of failure to recognize the disorder in family members with very mild thrombocytopenia or transient elevation of platelet counts or early death of the parent before the onset of symptoms. Therefore, de novo occurrence of an ANKRD26 pathogenic variant cannot be confirmed unless molecular genetic testing has demonstrated that neither parent is heterozygous for the pathogenic variant.
• If the pathogenic variant identified in the proband is not identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:
  • The proband has a de novo pathogenic variant.
  • The proband inherited a pathogenic variant from a parent with gonadal (or somatic and gonadal) mosaicism. Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ (gonadal) cells only.

Sibs of a proband. The risk to the sibs of the proband depends on the genetic status of the proband's parents.

• If a parent of the proband is known to have the ANKRD26 pathogenic variant identified in the proband, the risk to the sibs of inheriting the ANKRD26 pathogenic variant is 50%. Although penetrance of thrombocytopenia is complete in heterozygous individuals, intrafamilial variability in the degree of thrombocytopenia is observed and the risk of transformation to a myeloid malignancy is variable [Sullivan et al 2022].
• If the ANKRD26 pathogenic variant identified in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is estimated to be 1% because of the possibility of parental gonadal mosaicism [Zemet et al 2022].
• If the parents have not been tested for the ANKRD26 pathogenic variant but are clinically unaffected with normal platelet counts on multiple occasions, the risk to the sibs of a proband appears to be low. The sibs of a proband with untested parents with unknown platelet counts, including reportedly unaffected parents, are still at increased risk for ANKRD26-RT because of the possibility of an unrecognized diagnosis in a heterozygous parent and the possibility of parental gonadal mosaicism.

Offspring of a proband. Each child of an individual with ANKRD26-RT has a 50% chance of inheriting the ANKRD26 pathogenic variant.

Other family members. The risk to other family members depends on the genetic status of the proband's parents: if a parent has the ANKRD26 pathogenic variant, the parent's family members may be at risk.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Predictive testing (i.e., testing of asymptomatic at-risk individuals)

• Predictive testing for at-risk relatives is possible once the ANKRD26 pathogenic variant has been identified in an affected family member.
• Potential consequences of such testing (including, but not limited to, socioeconomic changes and the need for long-term follow up and evaluation arrangements for individuals with a positive test result) as well as the capabilities and limitations of predictive testing should be discussed in the context of formal genetic counseling prior to testing.

Predictive testing in minors (i.e., testing of asymptomatic at-risk individuals younger than age 18 years) should be discussed in the context of formal genetic counseling. The autonomy of the minor is a primary concern and consideration should be given to delay of predictive genetic testing until the at-risk individual is capable of informed decision making. However, this is complicated by minors being less likely to have had routine complete blood counts (CBCs) (per routine pediatric versus adult primary care practice); thus, minors may have unrecognized thrombocytopenia rather than being truly asymptomatic. Should an undiagnosed minor be incidentally identified with thrombocytopenia with preoperative screening testing, the delayed genetic testing may result in delayed surgical care and/or possible misdiagnosis with immune thrombocytopenia or unnecessary treatments for that presumed diagnosis. Consideration of baseline CBCs in minors could be considered to help guide shared decision making with families regarding timing of genetic testing in minors.

In a family with an established diagnosis of ANKRD26-RT, it is appropriate to consider testing of symptomatic individuals regardless of age.

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.

Prenatal Testing and Preimplantation Genetic Testing

Once the ANKRD26 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Molecular Pathogenesis

ANKRD26 encodes ankyrin repeat domain-containing protein 26 (ANKRD26), a protein that contains N-terminal ankyrin repeat domains and C-terminal spectrin helices, which may serve to mediate protein-protein interactions, including with the cytoskeleton. ANKRD26 is expressed in the brain, gastrointestinal tract, liver, adipose, hematopoietic, and reproductive tissues; however, the exact cellular function of ANKRD26 is unknown.

The great majority of reported pathogenic variants are single-nucleotide substitutions and small deletions located in a 22-nucleotide region within the 5' untranslated region (UTR) that contains transcription factor binding sites. A report with in vivo and in vitro functional studies suggests that the presence of truncating variants outside of the 5' UTR that may lead to predisposition to a myeloid disorder without thrombocytopenia [Marconi et al 2017].

Pathogenic variants in the 5' UTR of ANKRD26 have been shown to disrupt binding of runt-related transcription factor 1 (RUNX1) and friend leukemia integration 1 (FLI1) transcription factors. During normal megakaryopoiesis, RUNX1 and FLI1 downregulate expression of ANKRD26. Loss of RUNX1 and FLI1 transcription factor binding leads to overexpression of the ANKRD26 protein in megakaryocytes and defective pro-platelet formation, resulting in turn in reduced platelet formation. Accumulation of ANKRD26 in megakaryocytes also increases signaling through the TPO/MPL and MAPK/ERK pathways, which could explain the increased risk of myeloid transformation. Further studies are needed to validate this theory [Bluteau et al 2014].

The molecular basis for the predisposition to myeloid malignancies in individuals with ANKRD26-related thrombocytopenia is unknown. The predisposition is suspected to be related to thrombopoietin hypersensitivity leading to increased proliferation in the context of increased ANKRD26 expression [Balduini et al 2018]. Acquisition of somatic pathogenic variants in epigenetic regulators, transcription factors, and cell cycle regulators has been described at the time of myeloid clonal evolution in individuals with different types of syndromes with germline predisposition to malignancy and is linked to the transformation event [Perez Botero et al 2018].

Mechanism of disease causation. Transcriptional gain of function

Author Notes

Juliana Perez Botero is a hematologist and part of a multidisciplinary clinical laboratory genetics team that analyzes and interprets results of molecular testing of individuals with non-malignant hematologic disorders in the context of the clinical phenotype. From a research standpoint, the team focuses on generating data to increase the robustness of genotype-phenotype correlations for specific non-malignant hematologic disorders and generating algorithms for time- and cost-effective molecular diagnosis.
www.mayoclinic.org/biographies/perez-botero-juliana-m-d

Stefanie N Dugan is a genetic counselor and currently the Associate Director of the Rare Disease Treatment Center at Children's Wisconsin, working to expand access to genetic therapies and emerging treatments through development of an integrated cross-specialty approach to care for families of children and young adults seeking to understand and receive treatment for rare diseases and complex conditions. She has been part of multidisciplinary clinical laboratory genetics teams and provided genetic counseling at the Versiti Comprehensive Center for Bleeding Disorders for over a decade.

Juliana Perez Botero (ude.oyam@anailuj.oretobzerep) is actively involved in clinical research regarding individuals with inherited platelet disorders. She would be happy to communicate with persons who have any questions regarding diagnosis of ANKRD26-related thrombocytopenia or other considerations.

Contact Dr Perez Boteroto inquire about review of ANKRD26 variants of uncertain significance.

Revision History

• 15 September 2026 (sw) Comprehensive update posted live
• 21 June 2018 (sw) Review posted live
• 12 January 2018 (jpb) Original submission

Literature Cited

• Al Daama SA, Housawi YH, Dridi W, Sager M, Otieno FG, Hou C, Vasquez L, Kim C, Tian L, Sleiman P, Hakonarson H. A missense mutation in ANKRD26 segregates with thrombocytopenia. Blood. 2013;122:461-2. [PubMed: 23869080]
• Averina M, Jensvoll H, Strand H, Sovershaev M. A novel ANKRD26 gene variant causing inherited thrombocytopenia in a family of Finnish origin: another brick in the wall? Thromb Res. 2017;151:41-3. [PubMed: 28109976]
• Babushok DV, Bessler M, Olson TS. Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. Leuk Lymphoma. 2016;57:520-36. [PMC free article: PMC4798888] [PubMed: 26693794]
• Balduini A, Raslova H, Di Baduo CA, Donada M, Ballmaier M, Germeshausen M, Balduini CL. Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related thrombocytopenia and MYH9-related diseases. Eur J Med Genet. 2018;61:715-22. [PubMed: 29545013]
• Balduini CL, Pecci A, Noris P. Diagnosis and management of inherited thrombocytopenias. Semin Thromb Hemost. 2013a;39:161-71 [PubMed: 23397552]
• Balduini CL, Pecci A, Noris P. Inherited thrombocytopenias: the evolving spectrum. Hamostaseologie. 2012;32:259-70. [PubMed: 22972471]
• Balduini CL, Savoia A, Seri M. Inherited thrombocytopenias frequently diagnosed in adults. J Thromb Haemost. 2013b;11:1006-19. [PubMed: 23510089]
• Bastida JM, Marín-Quílez A, Zamora A, Benito Sanchez MR, Rodriguez Alen A, Sevivas T, Gómez-González PL, Díaz-Ajenjo L, Butta N, Campos RM, Escribano P, Huertas-Aragoneses J, Lopez-Duarte M, León A, Mompel A, De Oña Navarrete R, Peláez-Pleguezuelos I, Ramos-Ortega FJ, Sebastian E, Serrano C, Sierra-Aisa C, Velasco P, Murillo L, Vidal-Laso R, Nomdedeu M, Esteve Reyner J, Hernández-Rivas JM, Rivera Pozo J, Lozano ML. Inherited thrombocytopenias predisposing to hematologic neoplasms. Experience of the Spanish Group for Inherited Platelet Disorders (GEAPC). Blood. 2023;142:1357-.
• Bauer ME, Arendt K, Beilin Y, Gernsheimer T, Perez Botero J, James AH, Yaghmour E, Toledano RD, Turrentine M, Houle T, MacEachern M, Madden H, Rajasekhar A, Segal S, Wu C, Cooper JP, Landau R, Leffert L. The Society for Obstetric Anesthesia and Perinatology interdisciplinary consensus statement on neuraxial procedures in obstetric patients with thrombocytopenia. Anesth Analg. 2021;132:1531-44. [PMC free article: PMC13109829] [PubMed: 33861047]
• Bluteau D, Balduini A, Balayn N, Currao M, Nurden P, Deswarte C, Leverger G, Noris P, Perrotta S, Solary E, Vainchenker W, Debili N, Favier R, Raslova H. Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. J Clin Invest. 2014;124: 580-91. [PMC free article: PMC3904625] [PubMed: 24430186]
• Ferrari S, Lombardi AM, Putti MC, Bertomoro A, Cortella I, Barzon I, Girolami A, Fabris F. Spectrum of 5'UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected. Platelets. 2017;28:621-4. [PubMed: 28277066]
• Fiore M, Saut N, Alessi MC, Viallard JF. Successful use of eltrombopag for surgical preparation in a patient with ANKRD26-related thrombocytopenia. Platelets. 2016;27:828-9. [PubMed: 27276516]
• Godley LA. Inherited predisposition to acute myeloid leukemia. Semin Hematol. 2014;51:306-21. [PubMed: 25311743]
• Gresele P, Orsini S, Noris P, Falcinelli E, Alessi MC, Bury L, Borhany M, Santoro C, Glembotsky AC, Cid AR, Tosetto A, De Candia E, Fontana P, Guglielmini G, Pecci A, investigators B-Vs. Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC. J Thromb Haemost. 2020;18:732-9. [PubMed: 31750621]
• Marconi C, Canobbio I, Bozzi V, Pippucci T, Simonetti G, Melazzini F, Angori S, Martinelli G, Saglio G, Torti M, Pastan I, Seri M, Pecci A. 5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia. J Hematol Oncol. 2017;10:18. [PMC free article: PMC5242010] [PubMed: 28100250]
• Marquez R, Hantel A, Lorenz R, Neistadt B, Wong J, Churpek JE, Mardini NA, Shaukat I, Gurbuxani S, Miller JL, Godley LA. A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies. Leuk Lymphoma. 2014;55:2945-6. [PMC free article: PMC4206674] [PubMed: 24628296]
• Martin K, Key NS. How I treat patients with inherited bleeding disorders who need anticoagulant therapy. Blood. 2016;128:178-84. [PMC free article: PMC4946199] [PubMed: 27106121]
• Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL. ANKRD26-related thrombocytopenia and myeloid malignancies. Blood. 2013;122:1987-9. [PubMed: 24030261]
• Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, Punzo F, Melazzini F, Scianguetta S, Casale M, Marconi C, Pippucci T, Amendola G, Notarangelo LD, Klersy C, Civaschi E, Balduini CL, Savoia A. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood. 2011;117:6673-80. [PubMed: 21467542]
• Ouchi-Uchiyama M, Sasahara Y, Kikuchi A, Goi K, Nakane T, Ikeno M, Noguchi Y, Uike N, Miyajima Y, Matsubara K, Koh K, Sugita K, Imaizumi M, Kure S. Analyses of genetic and clinical parameters for screening patients with inherited thrombocytopenia with small or normal-sized platelets. Pediatr Blood Cancer. 2015;62:2082-8. [PubMed: 26175287]
• Pecci A. Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists. Int J Hematol. 2013;98:34-47. [PubMed: 23636669]
• Perez Botero J, Di Paola J. Diagnostic approach to the patient with a suspected inherited platelet disorder: who and how to test. J Thromb Haemost. 2021;19:2127-36. [PubMed: 34347927]
• Perez Botero J, Ho TP, Hogan WJ, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, Chen D, Viswanatha D, Rodriguez V, Khan SP, Patnaik MM. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol. 2018;182:141-5. [PubMed: 28485484]
• Perez Botero J, Oliveira JL, Chen D, Reichard KK, Viswanatha DS, Nguyen PL, Pruthi RK, Majerus J, Gada P, Gangat N, Tefferi A, Patnaik MM. ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26. Blood Cancer J. 2015;5:e315. [PMC free article: PMC4476020] [PubMed: 26001113]
• Sullivan MJ, Palmer EL, Botero JP. ANKRD26-related thrombocytopenia and predisposition to myeloid neoplasms. Curr Hematol Malig Rep. 2022;17:105-12. [PubMed: 35751752]
• Wahlster L, Verboon JM, Ludwig LS, Black SC, Luo W, Garg K, Voit RA, Collins RL, Garimella K, Costello M, Chao KR, Goodrich JK, DiTroia SP, O'Donnell-Luria A, Talkowski ME, Michelson AD, Cantor AB, Sankaran VG. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med. 2021;218:e20210444. [PMC free article: PMC8056752] [PubMed: 33857290]
• Zaninetti C, Gresele P, Bertomoro A, Klersy C, De Candia E, Veneri D, Barozzi S, Fierro T, Alberelli MA, Musella V, Noris P, Fabris F, Balduini CL, Pecci A. Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial. Haematologica. 2020;105:820-8. [PMC free article: PMC7049343] [PubMed: 31273088]
• Zemet R, Van den Veyver IB, Stankiewicz P. Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges. Prenat Diagn. 2022;42:811-821. [PMC free article: PMC9995893] [PubMed: 35394072]