Marji Noor, Dhillon Jasrerman, Lauwers Gregory Y, Feuerlein Sebastian, Nikfar Reza, Chatwal Monica, Vosoughi Aram
Department of Pathology, H Lee Moffitt Cancer Center and Research Institute, 12902 USF Magnolia Drive, Tampa, FL 33612, USA.
Department of Radiology, H Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Case Rep Pathol. 2022 Feb 8;2022:2640456. doi: 10.1155/2022/2640456. eCollection 2022.
Colorectal carcinoma with noncohesive tumor cells has been described in tumors with signet ring cells (mucinous adenocarcinoma and signet ring cell adenocarcinoma) and rhabdoid feature (carcinoma with sarcomatoid component). Cases of carcinoma with plasmacytoid morphology are rare in the gastrointestinal tract, and a single case of plasmacytoid colorectal carcinoma has been reported. We report the case of a 37-year-old woman who presented with urinary symptoms, hematuria, and abdominal pain. Imaging studies showed segmental sigmoid wall thickening with pericolic infiltration and focal bladder wall thickening. The cystoscopy with transurethral resection of bladder tumor revealed muscle invasion, dis-cohesive carcinoma with plasmacytoid morphology, which was initially misdiagnosed as the plasmacytoid urothelial carcinoma. Immunohistochemical stains showed the tumor cells to be positive for CDX2, CK20, and SATB2 and negative for p63, GATA3, CK7, and Uroplakin II, indicating the colorectal origin of the tumor. The subsequent colonic wall biopsy showed the same tumor. Molecular studies identified BRAF V600E, SMAD4, and p53 mutations associated with aggressive colorectal adenocarcinoma with mucinous/signet ring cell features. Further whole-exome sequencing and whole transcriptome analysis confirmed the colorectal origin of the tumor. This rare colorectal adenocarcinoma with the plasmacytoid feature may represent the signet ring cell adenocarcinoma lacking extracellular mucin or intracellular vacuole. Diagnosis of this rare histological subtype of colorectal carcinoma is important, particularly in the unusual presentation of this aggressive tumor.
具有非黏附性肿瘤细胞的结直肠癌已在伴有印戒细胞的肿瘤（黏液腺癌和印戒细胞腺癌）以及横纹肌样特征（伴有肉瘤样成分的癌）中被描述。胃肠道中具有浆细胞样形态的癌病例罕见，仅报道过一例浆细胞样结直肠癌。我们报告了一名37岁女性病例，她出现泌尿系统症状、血尿和腹痛。影像学检查显示乙状结肠节段性肠壁增厚伴结肠周围浸润以及膀胱壁局灶性增厚。膀胱镜检查及经尿道膀胱肿瘤切除术显示肿瘤侵犯肌层，为具有浆细胞样形态的非黏附性癌，最初被误诊为浆细胞样尿路上皮癌。免疫组化染色显示肿瘤细胞CDX2、CK20和SATB2呈阳性，而p63、GATA3、CK7和尿血小板蛋白II呈阴性，表明肿瘤起源于结肠。随后的结肠壁活检显示为相同肿瘤。分子研究鉴定出与具有黏液/印戒细胞特征的侵袭性结直肠癌相关的BRAF V600E、SMAD4和p53突变。进一步的全外显子测序和全转录组分析证实了肿瘤起源于结肠。这种具有浆细胞样特征的罕见结直肠癌可能代表缺乏细胞外黏液或细胞内空泡的印戒细胞腺癌。诊断这种罕见的结直肠癌组织学亚型很重要，尤其是在这种侵袭性肿瘤的不寻常表现中。
