Evidence map›Paper›PMID 32367453›Full record

ArticleInternational journal of hematology2020

Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood.

Hiroshi Yoshino, Yohei Nishiyama, Hiroshi Kamma, Tomohiro Chiba, Masachika Fujiwara, Takehiro Karaho, Yasunao Kogashiwa, Tomohiro Morio, Kunimasa Yan, Fumio Bessho and 1 more

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In one paragraph

Article in International journal of hematology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 47% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 1 country.

Hiroshi YoshinoDepartment of Pediatrics, Kyorin University, 181-8611 Shinkawa 6-20-2, Mitaka-Shi, Tokyo, Japan.
Yohei NishiyamaDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), 113-8519 Yushima 1-5-45, Bukyo-ku, Tokyo, Japan.
Hiroshi KammaDepartment of Pathology, Kyorin University School of Medicine, 181-8611 Shinkawa 6-20-2, Mitaka-Shi, Tokyo, Japan.
Tomohiro ChibaDepartment of Pathology, Kyorin University School of Medicine, 181-8611 Shinkawa 6-20-2, Mitaka-Shi, Tokyo, Japan.
Masachika FujiwaraDepartment of Pathology, Kyorin University School of Medicine, 181-8611 Shinkawa 6-20-2, Mitaka-Shi, Tokyo, Japan.
Takehiro KarahoDepartment of Otolaryngology Head and Neck Surgery, Kyorin University School of Medicine, 181-8611 Shinkawa 6-20-2, Mitaka-Shi, Tokyo, Japan.
Yasunao KogashiwaDepartment of Head and Neck Surgery, Saitama Medical University International Medical Center, 350-1298 Yamane 397-1, Hidaka-City, Saitama, Japan.
Tomohiro MorioDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), 113-8519 Yushima 1-5-45, Bukyo-ku, Tokyo, Japan.
Kunimasa YanDepartment of Pediatrics, Kyorin University, 181-8611 Shinkawa 6-20-2, Mitaka-Shi, Tokyo, Japan.
Fumio BesshoDepartment of Pediatrics, Kyorin University, 181-8611 Shinkawa 6-20-2, Mitaka-Shi, Tokyo, Japan.
Masatoshi TakagiDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), 113-8519 Yushima 1-5-45, Bukyo-ku, Tokyo, Japan. m.takagi.ped@tmd.ac.jp.ORCID http://orcid.org/0000-0002-7580-9184
Kyorin University · JPTokyo Medical and Dental University · JPSaitama Medical University · JP

Funding

Ministry of Education, Culture, Sports, Science and Technology (JP) JP19H03614
6 · The paper itself

Abstract

Germline pathogenic ETV6 variants have been discovered in families with inherited thrombocytopenia and predisposition to hematological and solid malignancies. We present a patient with short stature who was initially diagnosed with chronic immune thrombocytopenia. Subsequently, the patient developed acute lymphoblastic leukemia, followed by mammary analog secretory carcinoma. Sequencing analysis identified an ETV6 c.641C > T (p.Pro214Leu) germline variant. The variant protein exhibited attenuated nuclear localization, increased protein degradation, and reduced transcription repression function. Our findings suggest that the ETV6 gene should be sequenced in patients with inherited thrombocytopenia and malignancy, and emphasize the importance of careful follow-up to identify secondary cancer in patients with pathogenic ETV6 variants.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGerm-Line MutationCarcinomaCell LineChronic DiseaseETS Translocation Variant 6 ProteinFemaleHEK293 CellsHumansInfantPrecursor Cell Lymphoblastic Leukemia-LymphomaProto-Oncogene Proteins c-etsPurpura, Thrombocytopenic, IdiopathicRepressor ProteinsSalivary Gland NeoplasmsETS Translocation Variant 6 ProteinProto-Oncogene Proteins c-etsRepressor ProteinsAcute lymphoblastic leukemiaETV6GermlineMammary analog secretory carcinomaShort stature

Identifiers

PMID32367453
OpenAlexW3021799841

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.