A 19-year-old girl presented to our hospital with a history of right lumbar pain and discomfort for 2 months and aggravated for 2 days. The patient felt the right waist pain 2 months ago, which was persistent dull pain, and increased right-sided back pain after running 2 days ago. Abdominal computed tomography (CT) showed right renal hamartoma with hemorrhage in the local hospital. The patient had no significant medical history and was not receiving any medication at the time of referral. Of note in the history was that the patient discovered facial swelling, increased acne on the face and back, and scanty menstruation six months ago. Upon admission, physical examination revealed concentric obesity and positive percussion pain in the right costal horn.
Laboratory Examination
Blood routine (Sep 5): white-cell 17.15 × 10^9/L, neutrophil 16.01 × 10^9/L, neutrophil percentage 93.3%. Renal function (Sep 5): urea nitrogen 4.6 mmol/L, creatinine 52 umol/L. Liver function (Sep 5): total protein 60.5 g/L, albumin 34.5 g/L. Thyroid hormone (Sep 5): triiodothyronine 0.638 nmol/L, thyroxine 64.37 nmol/L, free triiodothyronine 1.62 pmol/L, free thyroxine 10.26 pmol/L, thyroid stimulating hormone 0.847 uIU/mL. Female hormones (Sep 6): dehydroepiandrosterone sulfate > 1000 ug/dL, sex hormone binding globulin 12.6 nmol/L, cortisol > 60 ug/dL. Cortisol rhythm (Sep 6): cortisol 82.255 ug/dL (8: am), cortisol 92.705 ug/dL (4: pm), cortisol 65.859 ug/dL (12: pm). Adrenocorticotrophic hormone (ACTH) rhythm (Sep 6): ACTH 231,756 pg/mL (8: am), ACTH 242.763 pg/mL (4: pm), ACTH 202.883 pg/mL (12: pm). (Table 1)
Table 1
Changes in patients' laboratory examination results.
| Normal Ranges | Sep 5 | Sep 6 | Sep 7 | Sep 8 (8:00 am) | Sep 8 (5:00 pm) | Sep 9 | Sep 10 | Sep 11 | Sep 21 |
Blood routine | | | | | | | | | | |
White-cell (10^9/L) | 3.5–9.5 | 17.15 | 24.1 | | 19.87 | 26.74 | 11.36 | 8.89 | 6.69 | 7.41 |
Red-cell (10^12/L) | 3.8–5.1 | 4.75 | 4.61 | | 4.25 | 3.24 | 2.84 | 2.85 | 2.59 | 3.39 |
Hemoglobin (g/L) | 115–150 | 145 | 143 | | 130 | 98 | 86 | 85 | 78 | 101 |
Platelets (10^9/L) | 125–350 | 197 | 168 | | 106 | 137 | 90 | 67 | 58 | 262 |
Neutrophil count (10^9/L) | 1.8–6.3 | 16.01 | 22.56 | | 19.12 | 25.65 | 10.37 | 7.66 | 5.78 | 5.35 |
Neutrophil percentage (%) | 40–75 | 93.3 | 93.61 | | 96.24 | 95.9 | 91.31 | 86.21 | 86.5 | 72.11 |
Renal function | | | | | | | | | | |
Urea nitrogen (mmol/L) | 2.9–7.2 | 4.6 | 7.6 | 9.9 | | 10.6 | 11.3 | 8.9 | 7.2 | 8.2 |
Creatinine (umol/L) | 53–132 | 52 | 117 | 124 | | 146 | 155 | 137 | 116 | 112 |
Uric acid (umol/L) | 150–360 | 180 | 223 | 239 | | 321 | 378 | 296 | 312 | 393 |
Liver function | | | | | | | | | | |
Total protein (g/L) | 66.0–83.0 | 60.5 | 56.2 | 55.2 | | 36.2 | 42.3 | 45.8 | 50.2 | 73.9 |
Albumin (g/L) | 40.0–55.0 | 34.5 | 36.8 | 33.8 | | 24.3 | 30.3 | 33 | 34.4 | 47.1 |
Globulin (g/L) | 20.0–40.0 | 26 | 19.4 | 21.4 | | 11.9 | 12 | 22.8 | 15.8 | 26.8 |
Thyroid Hormone | | | | | | | | | | |
Triiodothyronine (nmol/L) | 1.23–3.08 | 0.638 | | | | | | | 0.582 | 1.365 |
Thyroxine (nmol/L) | 65.64-181.47 | 64.37 | | | | | | | 78.99 | 94.287 |
Free triiodothyronine (pmol/L) | 2.77–7.08 | 1.62 | | | | | | | 1.86 | 4.35 |
Free thyroxine (pmol/L) | 11.97–21.88 | 10.26 | | | | | | | 14.84 | 18.14 |
Thyroid stimulating hormone (uIU/mL) | 0.27–4.2 | 0.847 | | | | | | | 3.9 | 2.26 |
Female hormones | | | | | | | | | | |
Follicle stimulating hormone (mIU/mL) | 4.6–8.6 | | 4.77 | | | | | | | 6.96 |
Luteinizing hormone (IU/L) | 1.5-7.0 | | 3.75 | | | | | | | 7.64 |
Estradiol (pg/mL) | 18–63 | | 47 | | | | | | | 34 |
Testosterone (ng/mL) | 0.15–0.51 | | 2.13 | | | | | | | 0.24 |
Prolactin (ng/mL) | 3.5–24.2 | | 15.72 | | | | | | | 16.69 |
Dehydroepiandrosterone sulfate (ug/dL) | 51–321 | | > 1000 | | | | | | | 167.2 |
Sex hormone binding globulin (nmol/L) | | | 12.6 | | | | | | | 49.2 |
Cortisol (ug/dL) | 8.7–22.4 | | > 60 | | | | | | | 12.44 |
Cortisol rhythm | | | | | | | | | | |
Cortisol (8:am) (ug/dL) | 4.26–24.85 | | 82.255 | | | | | 11.495 | | 17.762 |
Cortisol (4:pm) (ug/dL) | 1.9–17.3 | | 92.705 | | | | | 5.847 | | 6.107 |
Cortisol (12:pm) (ug/dL) | | | 65.859 | | | | | 6.088 | | 2.921 |
ACTH rhythm | | | | | | | | | | |
ACTH (8:am) (pg/mL) | 7.2–63.3 | | 231.756 | | | | | 36.489 | | 34.742 |
ACTH (4:pm) (pg/mL) | 3.6–31.7 | | 242.763 | | | | | 30.08 | | 25.388 |
ACTH (12:pm) (pg/mL) | | | 202.883 | | | | | 22.947 | | 35.454 |
Imaging Examinations
Abdominal imaging with contrast-enhanced computed tomography and computed tomography angiography (Sep 5) showed right suprarenal pole occupancy (size 9.4cm*9.9 cm) with subepithelial hemorrhage, right renal artery branch supplied blood, and the right portal lymph node enlargement (Fig. 1).
Treatment
Re-examination of the patient’s blood routine, renal function and protein level showed that the infection index further increased, and the renal function and protein level decreased. The patient received double J tube implantation under left ureteroscope plus right radical nephrectomy plus clearance of right perirenal hematoma plus lysis of right perirenal adhesion on Sep 8. The patients were transferred to ICU monitoring and treatment after surgery.
Pathology
The maximum diameter of the tumor was 8 cm. The tumor involved renal parenchyma, perirenal adipose tissue and adrenal gland, and a carcinoma thrombus was seen in the vasculature. Under light microscope, the tumor cells were lamellar, composed of a large number of small round cells with relatively uniform morphology and little cytoplasm (Fig. 2). The immunohistochemical results were positive for CD99 and Ki67 (about 10%), while Vim, Syn, FSH and ACTH were negative (Fig. 3). EWSRI gene fusion was detected by fluorescence in situ hybridization (FISH) (Fig. 4). According to the results of postoperative pathology and molecular pathological examination, the finally diagnosed was renal small round blue cell tumor (consistent with primitive neuroectodermal tumor (PNET)).
Follow-up
The blood routine, renal function and protein levels of the patients showed a trend of improvement for three consecutive days after surgery, ACTH and plasma total cortisol (PTC) decreased to normal, and thyroid hormones tended to normal (Table 1). The patient’s facial swelling was reduced and the acne on her face and back subsided. However, three weeks after surgery, the patient died while preparing for further chemotherapy.