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Journals / Turkish Journal of Hematology / 2015 / Cilt: 32 - Sayı: 2

c-MPL Genindeki Yanlış Anlamlı Mutasyona Bağlı Konjenital Amegakaryositik Trombositopenili Bir Hastada Ağır Klinik Seyir

Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene

İkbal BOZKAYA OK
HÜSNİYE NEŞE YARALI
Pamir IŞIK
Rukiye SAÇ ÜNSAL
Betül TAVİL
Bahattin TUNÇ
Pages
172–174
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here we present a girl with severe clinical course of CAMT II having a missense mutation in exon 4 of the c-MPL gene who was admitted to our hospital with intracranial hemorrhage during the newborn period.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Congenital amegakaryocytic thrombocytopenia (CAMT) generally begins at birth with severe thrombocytopenia and progresses to pancytopenia.
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Key Findings & Data:It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene (c-MPL).
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Conclusion & Impact:Here we present a girl with severe clinical course of CAMT II having a missense mutation in exon 4 of the c-MPL gene who was admitted to our hospital with intracranial hemorrhage during the newborn period.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Congenital amegakaryocytic thrombocytopenia (CAMT) generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene (c-MPL). The association between CAMT and c-MPL mutation type has been reported in the literature. Patients with CAMT have been categorized according to their clinical symptoms caused by different mutations. Missense mutations of c-MPL have been classified as type II and these patients have delayed onset of bone marrow failure compared to type I patients. Here we present a girl with severe clinical course of CAMT II having a missense mutation in exon 4 of the c-MPL gene who was admitted to our hospital with intracranial hemorrhage during the newborn period.

Özet

Konjenital amegakaryositik trombositopeni (KAMT) genellikle, doğumda ağır trombositopeni ile başlar ve pansitopeniye ilerler. Hastalığın nedeni trombopoetin reseptör geni olan myeloproliferatif lösemi virüs onkogenindeki (c-MPL) mutasyon olup, literatürde KAMT kliniği ile c-MPL mutasyon tipleri arasında ilişki bildirilmiş, hastalar farklı mutasyonların neden olduğu klinik belirtilere göre sınıflandırılmışlardır. c-MPLnin yanlış anlamlı mutasyonları tip 2 olarak sınıflanmıştır. Bu hastalar tip 1 hastalar ile karşılaştırıldığında kemik iliği yetmezliğinin daha geç başladığı bildirilmiştir. Burada, yenidoğan döneminde intrakranial kanama ile hastanemize başvuran c-MPL geninde ekzon 4de yanlış anlamlı mutasyonu olan KAMTII tanılı ağır klinik seyirli bir kız sunulmuştur.

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Cite This Article

OK, İ. B., YARALI, H. N., IŞIK, P., ÜNSAL, R. S., TAVİL, B., TUNÇ, B. (2015). c-MPL Genindeki Yanlış Anlamlı Mutasyona Bağlı Konjenital Amegakaryositik Trombositopenili Bir Hastada Ağır Klinik Seyir. Turkish Journal of Hematology, Cilt: 32 - Sayı: 2, 172–174. https://ajindex.com/articles/412511

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