Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report.

Autor:	Bosch‐Vilaseca, Anna, Monter‐Rovira, Anna, Cisa‐Wieczorek, Sabina, Oñate, Guadalupe, Bussaglia, Elena, Carricondo, Maite, Remacha, Ángel, Martínez, Clara, Pratcorona, Marta, Blanco, María Laura, Nomdedéu, Josep F.
Předmět:	MAST cells LEUKEMIA HUMAN genes CHROMOSOMES ACUTE leukemia
Zdroj:	Clinical Case Reports; Jul2019, Vol. 7 Issue 7, p1395-1398, 4p
Abstrakt:	We report a de novo aleukemic form of MCL with a complex monosomic karyotype with LOH for multiple chromosomes and TP53 mutation. Additionally, whereas D816V KIT was not found, the c‐Kit transmembrane domain p.M541L variant was detected which is the most common SNP of KIT gene in humans with controversial pathogenic role. In these cases, it is crucial to perform a rapid broad molecular study for an accurate diagnosis which could help to initiate targeted therapy. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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