Multiple Myelom (MM) Tanısı Alan Olgularda Kromozomal Değişimler

Yıl 2018, Cilt: 10 Sayı: 1, 8 - 19, 01.03.2018

Emine İkbal Atlı , Hakan Gürkan Hilmi Tozkır Elif Gülsüm Ümit Selma Demir Sinem Yalçıntepe Engin Atlı Ahmet Muzaffer Demir

Öz

Multipl
Myelom (plazma hücreli myelom, myelomatozis veya Kahler hastalığı) kemik
iliğinde monoklonal immünglobulin (M protein) yapan plazma hücrelerinin
kontrolsüz, klonal artışı ile karakterize kronik, progresif ve letal bir hastalıktır.
Son 10 yılda özellikle genetikteki teknolojik gelişmeler sonucu, myeloma
biyolojisinin ve tedavisinde dramatik ilerleme sağlanmıştır. Tablonun hücresel
ve moleküler detayının zenginleştirilmesiyle yeni girişim ve prensiplerin
özellikle tedavide belirlenmesinde yol gösterici olmuştur. Hastalık prognozu
hastalığı oluşturan hücrelerin, morfolojisi, biyolojisi, fonksiyonu ve genetik
özellikleri gibi değişkenler tarafından belirlenir. Günümüzde, prognoz
belirlenmesinde ve tedavi seçiminde genetik özellikler de dikkate alınmaktadır.
MM‟nin gelişimi; mutasyonları, kromozomal translokasyonları ve belki de belirli
viral enfeksiyonlar ile tetiklenen çeşitli genetik anormalliklerin etkisini de
içeren çok basamaklı bir olay olarak tanımlanmaktadır. Hastalığın ilerlemesiyle
karmaşık genetik anomalilerin arttığı gözlenmiştir. Genetik değişimlerin
saptanmasının sadece klinik prognoz açısından değil aynı zamanda tedaviye
alınacak cevabı belirleyip tedavi alternatiflerin seçiminde de yardımcı olacağı
belirtilmiştir.

Anahtar Kelimeler

Multipl myelom, genetik, kromozom

Chromosomal Changes in Patients with Multiple Myeloma (MM)

Öz

Multiple
Myeloma (plasma cell myeloma, myelomatosis or Kahler's disease) is a chronic,
progressive, and lethal disease characterized with plasma cells was increased uncontrolled
that produced monoclonal immunoglobulin (M protein) in bone marrow. In the last
10 years, especially in genetics, technological developments have resulted in
dramatic progress in myeloma biology and treatment. Enrichment of cellular and
molecular details for disease has led to new initiatives and principles leading
to choice of treatment. The disease prognosis is determined by variables such
as the morphology, biology, function, and genetic characteristics of the cells
that make up the disease. Nowadays, genetic features are taken into account in
determining prognosis and selection of treatment. Development of MM; is defined
as a multi-step event triggered by mutations, chromosomal translocations,
certain viral infections and possibly the effects of various genetic
abnormalities. It has been observed that complex genetic anomalies increase
with the progression of the disease. Genetic changes will be helpful not only
in terms of clinical prognosis but also in choosing therapeutic alternatives by
anticipating the response to be taken from the treatment.

Anahtar Kelimeler

Multipl myeloma, genetics, chromosomes

Kaynakça

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