Lv Jiao-Jie, Ren Min, Cai Xu, Hu Jue, Kong Jin-Cheng, Kong Yun-Yi
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China.
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
Histopathology. 2022 Jan;80(2):407-419. doi: 10.1111/his.14565. Epub 2021 Nov 11.
This study aimed to investigate the clinical, histological, immunohistochemical and chromosomal features of primary cutaneous adenoid cystic carcinoma (PCACC).
We retrospectively analysed 13 cases identified on their clinicopathological features and performed fluorescence in-situ hybridisation (FISH) on six available cases. Head and neck (46.2%) were most commonly involved. The median age was 53 years, with a male predilection. Histologically, tumours were classified as grades 1 (eight), 2 (four) and 3 with high-grade transformation (HGT) (one). The HGT component was demonstrated as poorly differentiated carcinoma with multifocal necrosis and myoepithelial differentiation. Patients with one of the following factors: longest diameter of the lesion (≥ 1 cm), involvement of subcutaneous fat tissue and widely infiltrative border had a relatively higher rate of local recurrence, distant metastasis and death. Five of six cases were confirmed to have MYB translocation, while nuclear staining for MYB proto-oncogene, transcription factor (MYB) protein was found in four cases. During the follow-up (median = 64 months), two patients experienced local recurrences. One patient, who was classified as grade III PCACC with HGT, developed multiple metastases and died of disease. Another patient was alive with multiple metastases.
This is the largest single-institution study, to our knowledge, of PCACC in an Asian population. We describe the first case of scalp PCACC with HGT, which is the only death case in our series. PCACC tends to recur locally and has metastatic potential. PCACC with HGT has a poor prognosis.
本研究旨在探讨原发性皮肤腺样囊性癌（PCACC）的临床、组织学、免疫组化及染色体特征。
我们回顾性分析了13例根据临床病理特征确诊的病例，并对6例可用病例进行了荧光原位杂交（FISH）检测。头颈部（46.2%）是最常受累部位。中位年龄为53岁，男性居多。组织学上，肿瘤分为1级（8例）、2级（4例）和伴有高级别转化（HGT）的3级（1例）。HGT成分表现为伴有多灶性坏死和肌上皮分化的低分化癌。具有以下因素之一的患者：病变最长径（≥1 cm）、皮下脂肪组织受累及边界广泛浸润，局部复发、远处转移和死亡的发生率相对较高。6例中有5例证实存在MYB易位，4例发现MYB原癌基因、转录因子（MYB）蛋白的核染色。在随访期间（中位时间=64个月），2例患者出现局部复发。1例被分类为伴有HGT的III级PCACC患者发生多处转移并死于疾病。另1例患者虽有多处转移但仍存活。
据我们所知，这是亚洲人群中关于PCACC的最大规模单机构研究。我们描述了首例伴有HGT的头皮PCACC病例，这是我们系列中的唯一死亡病例。PCACC倾向于局部复发并具有转移潜能。伴有HGT的PCACC预后较差。
