Bilateral testicular infiltration as the initial presentation of NRAS-mutant juvenile myelomonocytic leukemia: rapid molecular remission following azacitidine and haploidentical stem cell transplantation

IF 0.8 Q4 HEMATOLOGY

Leukemia Research Reports Pub Date : 2026-01-01 Epub Date: 2026-07-23 DOI:10.1016/j.lrr.2026.100601

Yousef VatanParast

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Abstract

Background

Juvenile myelomonocytic leukemia (JMML) rarely manifests with extramedullary involvement beyond spleen, liver, or skin; testicular infiltration at diagnosis is unreported. We describe a Novel Case of bilateral testicular leukemic infiltration as the initial presentation of NRAS-mutant JMML in a toddler, with rapid remission following azacitidine bridging and haploidentical HSCT.

Case presentation

A 2-year-old boy presented with pallor, abdominal distension, and bilateral scrotal swelling. Labs: leukocytosis (58 × 10⁹/L, monocytes 12.8 × 10⁹/L), anemia (Hb 8.2 g/dL), HbF 22%. BM confirmed JMML with NRAS p.G12D (VAF 42%). No pathogenic variants were detected in KRAS, PTPN11, CBL, or NF1. Conventional cytogenetic analysis demonstrated a normal male karyotype (46,XY). US: testes enlarged (18.8/18.2 mL) with hypoechoic infiltration. Azacitidine (75 mg/m²/d × 5, 2 cycles) reduced counts and size. Paternal haplo-HSCT (Flu-Treo-TT conditioning, PTCy) engrafted D + 18; testes normal at 6 weeks, molecular remission (NRAS-) at 3 months.

Conclusions

This novel case underscores the efficacy of azacitidine and haploidentical HSCT for NRAS-mutant JMML with testicular involvement. Routine genital examination and ultrasound are recommended for male patients.

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双侧睾丸浸润作为nras突变的幼年髓单核细胞白血病的初始表现：阿扎胞苷和单倍体干细胞移植后的快速分子缓解

背景：青少年髓单细胞白血病（JMML）很少表现为髓外累及脾、肝或皮肤；诊断时睾丸浸润未见报道。我们描述了一个新病例的双侧睾丸白血病浸润作为nras突变JMML的初始表现，在阿扎胞苷桥接和单倍体相同的HSCT后迅速缓解。病例表现：一名2岁男孩，表现为苍白、腹胀和双侧阴囊肿胀。实验室：白细胞增多（58 × 10⁹/L，单核细胞12.8 × 10⁹/L），贫血（Hb 8.2 g/dL）， HbF 22%。BM证实jmm伴NRAS p.G12D （VAF 42%）。在KRAS、PTPN11、CBL或NF1中未检测到致病性变异。常规细胞遗传学分析显示为正常男性核型（46，XY）。超声：睾丸增大（18.8/18.2 mL）伴低回声浸润。阿扎胞苷（75 mg/m²/d × 5, 2个循环）减少计数和体积。父本单倍hsct （Flu-Treo-TT conditioning, PTCy）移植D + 18；6周睾丸正常，3个月分子缓解（NRAS-）。结论这一新病例强调了阿扎胞苷和单倍体HSCT治疗nras突变型JMML累及睾丸的疗效。男性患者建议常规生殖器检查和超声检查。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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