Remo Andrea, Grillo Federica, Mastracci Luca, Fassan Matteo, Sina Sokol, Zanella Caterina, Parcesepe Pietro, Damiano Urso Emanuele, Pancione Massimo, Bortuzzo Germana, Scarpa Aldo, Manfrin Erminia
Pathology Unit, Hospital "Mater Salutis" Legnago (VR), Italy.
Department of Surgical and Diagnostic Sciences (DISC), Pathology Unit, University of Genoa and IRCCS AOU San Martino-IST, Genoa, Italy.
Pathol Res Pract. 2017 May;213(5):447-452. doi: 10.1016/j.prp.2017.02.013. Epub 2017 Feb 24.
Primary clear cell colorectal carcinoma (CCC) is a very rare entity accounting for only 35 cases reported in the Literature. CCC is neither classified as a distinct entity nor is it defined as a CRC variant because its ontogeny remains unclear. Most of the reported CCC were found in the distal colon in patients with a mean age of 56 years. Histologically, clear cell change is the main morphologic feature and may present in a "pure" form, composed exclusively of clear cells, or in a "composite" form, admixed with other morphologically different components. It is possible to distinguish two biologically different types of CCC, with different clinical-pathologic features, therapeutic management and diagnostic criteria: a) Intestinal CCC consisting of an aggressive neoplasm, affecting mainly adult men, characterized by an intestinal-type immunoprofile (CK20+, CK7-, CEA+, CDX-2+) and b) Müllerian CCC consisting of an indolent carcinoma of the sigmoid-rectum, affecting young women, characterized by a different (CK7+, CK20-, CEA-, CA125 +) immunoprofile. Considerable diagnostic difficulties can arise in distinguishing CCC and primary or secondary clear cell neoplasms, such as metastases from renal carcinoma, lower urinary tract, female genital tract, adrenal gland, mesothelioma, melanoma and primary intestinal PEComa. In this paper we review the Literature with two additional cases in order to define the diagnostic criteria of CCC.
原发性结直肠癌（CCC）是一种非常罕见的疾病，文献中仅报道了35例。CCC既未被归类为一种独特的疾病实体，也未被定义为结直肠癌的一种变体，因为其起源仍不清楚。大多数报道的CCC病例发现于远端结肠，患者平均年龄为56岁。在组织学上，透明细胞改变是主要的形态学特征，可能以“纯”形式出现，即仅由透明细胞组成，或以“复合”形式出现，与其他形态不同的成分混合。有可能区分出两种生物学上不同类型的CCC，它们具有不同的临床病理特征、治疗管理和诊断标准：a）肠道CCC，由侵袭性肿瘤组成，主要影响成年男性，具有肠道型免疫表型（CK20+、CK7-、CEA+、CDX-2+）；b）苗勒管CCC，由乙状结肠-直肠的惰性癌组成，影响年轻女性，具有不同的免疫表型（CK7+、CK20-、CEA-、CA125+）。在区分CCC与原发性或继发性透明细胞瘤时可能会出现相当大的诊断困难，如肾癌、下尿路、女性生殖道、肾上腺、间皮瘤、黑色素瘤和原发性肠道PEComa的转移瘤。在本文中，我们回顾了文献并增加了两例病例，以确定CCC的诊断标准。
