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Case #2

Test2

40s, Male

Patient Characteristics

40sCTNNB1IHCMSI-HStage IV (cT3N1M1)TP53adrenaldMMRhigh-grade adrenocortical carcinomaliverlungtissue NGS

Summary

A male in their 40s presented with new-onset hypertension, hyperglycemia, weight gain, fatigue, and right flank pain, leading to the discovery of a large right adrenal mass. Biopsy confirmed high-grade adrenocortical carcinoma (ACC) with TP53 and CTNNB1 mutations, and MSI-H/dMMR, staged as metastatic (cT3N1M1) with liver and suspected lung involvement. Initial systemic therapy with EDP plus mitotane resulted in stable disease, followed by progression in the liver, which was subsequently managed with local SBRT. The patient then received pembrolizumab based on MSI-H/dMMR status, achieving a partial response with improved hormonal symptoms, and continues on this therapy.

Full notes

키/체중: 173cm / 76kg ECOG PS: 1 (일상생활 가능, 피로감으로 격한 활동 제한) Relevant comorbidities / prior malignancy 고혈압(3년), 제2형 당뇨(2년, 경구약), 지방간 과거 악성종양 병력 없음 Symptom burden (baseline) 3개월 전부터: 체중 증가(복부 중심), 근력저하, 불면/불안, 멍이 잘 듦 최근 4주: 혈압 조절 악화(160–180/95–110), 혈당 상승, 얼굴 부종 통증: 우측 옆구리 둔통 NRS 3–4 Key baseline labs (2025-02) CBC: Hb 14.1 g/dL, WBC 8.9k, Plt 265k CMP: AST 42, ALT 58, Cr 0.9 K 3.1 mmol/L(저칼륨), Na 143 Fasting glucose 178 mg/dL, HbA1c 8.2% 호르몬: AM cortisol 28 µg/dL(상승), ACTH 억제, 24h urine free cortisol 상승, DHEA-S 경도 상승 종양표지자: CEA/CA19-9 정상 범위(비특이) Key baseline imaging (2025-02) CT: 우측 부신 11.2cm 종괴(불균질 조영, 중심 괴사), 주변 지방 침윤 + 후복막 림프절 비대 간 S6 1.8cm 결절 2개(전이 의심), 양측 폐 미만성 소결절 3–5mm 일부