Case 699 -- A 28 year old female with fatigue and easy bruising

Contributed by Stephen Hastings, MD


The patient is a 28 year old female who presented to an outside hospital with fatigue and easy bruising. She has a past medical history of cleft palate, type 2 diabetes, irritable bowel syndrome, and depression. She was found to have splenomegaly on physical exam. A complete blood cell count (CBC) was performed, which showed thrombocytopenia, borderline anemia, and neutropenia with a left shift. She was referred to a hematologist and a repeat CBC and bone marrow evaluation were performed:

KARYOTYPE (bone marrow):

45~47,XX,inv(3)(p21q26)add(3)(q26),i(5)(p10), add(7)(q22),del(13)(q13q22),-14,+r,+1~2mar[cp19]/46,XX[2]

Fluorescence in situ hybridization (FISH) was positive for 5q31 deletion in 180 of the 228 interphase cells examined (78.9%), including 160 cells (70.1%) with one signal for EGR1 along with three signals for the control probe at 5p15.2, which corresponds to the i(5)(p10) chromosome detected in the abnormal clone upon classical analysis.

FISH was positive for the 7q31 deletion in 167 of the 202 interphase cells examined, including seven cells (3.3%) with an extra signal for the centromere of chromosome7.

FISH was negative for trisomy 8 (100%), the 20q12 deletion (98.7%) and for the BCR/ABL1 gene rearrangement (100%).


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