HIF2A germline–mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma

Figures & data

Figure 1. Characterization of the patient. (A) Computed tomography (CT) scan. Renal tumor is indicated by red arrow. (B) Hematoxylin and eosin staining (HE) and immunohistochemical staining of HIF1α, HIF2α, EPO, and VEGF in the tumor tissue. Magnification, 400 ×. (C) Sequence of HIF2α exon 12 in DNA purified from blood of patient (upper) and his daughter (lower). The heterozygous G>A substitution is indicated by a red arrow. (D) Patient family pedigree. □/○, normal male/female; ▪/•: male/female carrying the mutation. Patient and daughter are represented by a filled square (arrow) and filled circle, respectively.

Table 1. Patient clinical course.

	11/25/2015	12/3/2015	10/20/2016	4/5/2017
Red cell mass	6.83 × 10^12	5.07 × 10^12	7.35 × 10^12	7.35 × 10^12
Hemoglobin (g/L)	227	167	215	235
HCT	64.7	48.7	64.8	71.9
MCV	94.7	96.1	88.2	97.8
Leukocytes	1.37 × 10^9	0.81 × 10^9	1.28 × 10^9	1.53 × 10^9
Platelets	50 × 10^9	82 × 10^9	46 × 10^9	64 × 10^9
EPO (mIU/mL)	NA	232.63	NA	14.46

HCT: hematocrit; MCV: mean corpuscular volume; EPO: erythropoietin; NA: not applicable.