Carney J A, Stratakis C A
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Semin Diagn Pathol. 1998 Aug;15(3):216-24.
Carney complex, a familial multitumoral syndrome, comprises spotty skin pigmentation (lentigines and blue nevi), myxomas (heart, skin, and breast), endocrine tumors (adrenal cortex, pituitary, testis, and thyroid), and schwannomas. The skin pigmentary abnormality included two unusual conditions, epithelioid blue nevus and psammomatous melanotic schwannoma. The former tumor occurred on the extremities and trunk, less frequently on the head and neck; was multiple; and did not recur or metastasize. Clinically, it was pigmented, domed, and small (< 1 cm). Microscopically, it displayed two types of melanocytes--one intensely pigmented, globular, and fusiform and the other lightly pigmented, polygonal, and spindle. Nuclei of the latter cells were vesicular, with pale chromatin and single prominent nucleolus. None recurred or metastasized. The psammomatous melanotic schwannoma occurred in posterior spinal nerve roots, upper alimentary tract, bone, and skin. Microscopically, it was circumscribed but incompletely encapsulated and contained spindle and epithelioid cells, melanin, psammoma bodies, and fat. The spindle cells were arranged in interlacing fascicles, with whorling and occasional nuclear palisading. Twenty-one patients (68%) were alive without evidence of the neoplasm; two of these each had two local recurrences. Seven patients died, three (10%) as a result of metastasis.
卡尼综合征是一种家族性多肿瘤综合征，包括皮肤斑点状色素沉着（雀斑和蓝色痣）、黏液瘤（心脏、皮肤和乳腺）、内分泌肿瘤（肾上腺皮质、垂体、睾丸和甲状腺）以及神经鞘瘤。皮肤色素异常包括两种不常见的情况，即上皮样蓝色痣和砂粒体性黑素性神经鞘瘤。前者肿瘤发生于四肢和躯干，较少见于头颈部；为多发性；不复发或转移。临床上，其有色素沉着，呈圆顶状，且较小（<1cm）。显微镜下，它显示出两种类型的黑素细胞——一种色素沉着强烈，呈球形和梭形，另一种色素沉着较轻，呈多边形和梭形。后一种细胞的细胞核呈泡状，染色质淡，有单个明显核仁。无一例复发或转移。砂粒体性黑素性神经鞘瘤发生于后脊髓神经根、上消化道、骨骼和皮肤。显微镜下，它边界清楚但包膜不完整，含有梭形细胞和上皮样细胞、黑色素、砂粒体和脂肪。梭形细胞排列成交错的束状，有漩涡状结构，偶尔有核栅栏状排列。21例患者（68%）存活，无肿瘤证据；其中2例各有2次局部复发。7例患者死亡，3例（10%）死于转移。
