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

Abstract

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.

Aleukemic Variant of Mast Cell Leukemia with del (7)(q31): Rare Case Report of an Elderly Chinese Man

“…Cytogenetic abnormalities occur in fewer than half of all MCL patients [ 1 ]. Del(5q), del(12p), t(10;16), t(8;21), t(9;22), t(1;9), t(4;5), and complex karyotypes with ≥3 aberrations were previously reported in MCL patients [ 2 , 3 , 4 , 5 , 6 , 7 ]. MCL has poor prognosis and median survival is 6 months [ 1 ].…”

“…MCL has poor prognosis and median survival is 6 months [ 1 ]. One patient with aleukemic MCL and a complex monosomic karyotype died 1 month after diagnosis [ 6 ]. Our patient was treated for symptoms and died 6 months later.…”