Transformed aggressive γδ-variant T-cell large granular lymphocytic leukemia with acquired copy neutral loss of heterozygosity at 17q11.2q25.3 and additional aberrations.

[monosomy 21]

T -cell large granular lymphocytic leukemia (T -LGLL ) is a rare indolent lymphoproliferative disorder characterized by cytopenias , splenomegaly , and various degrees of T -cell lymphocytosis , due to a clonal expansion of CD 8 -positive cytotoxic T -cells . Phenotypic variants of T -LGLL include CD 4 (+) /CD 8 (-) T -cells , with dual CD 4 (-) /CD 8 (-) /γδ (+) T -cells being even rarer . Cytogenetic abnormalities in T -LGLL have rarely been reported , and there is scientific debate regarding the existence of aggressive or transformed variants of T -LGLL . We report a patient with T -LGLL , γδ variant , with nearly 20 -year -long duration of cytopenias before transformation to an unusual clinical scenario , manifesting with marked lymphocytosis >100 × 10 (9 ) /L and infiltration of lymph nodes , tonsils , and subcutaneous tissue . Single -nucleotide polymorphism assays revealed acquired copy neutral loss of heterozygosity at 17 q and deletion of 3 p 21 .31 , in addition to trisomy 5 , monosomy X , and monosomy 21 . These genetic abnormalities provided a better understanding of the molecular nature and the potentiality of disease transformation .

Diseases
Validation

Diseases presenting "leukemia" symptom

canavan disease

cholangiocarcinoma

cutaneous mastocytosis

erdheim-chester disease

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

hodgkin lymphoma, classical

junctional epidermolysis bullosa

kabuki syndrome

liposarcoma

monosomy 21

neuralgic amyotrophy

papillon-lefèvre syndrome

phenylketonuria

pleomorphic liposarcoma

pyomyositis

severe combined immunodeficiency

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated