Alveolar Soft Part Sarcoma,ASPS
赵明 刘正智
更新时间:2020-08-31 09:40:00
发病部位:四肢和躯干、头颈部,女性生殖道、乳腺、肺、胃、纵隔、腹膜后和骨
诊断要点:
2. 大体检查肿块通常界限较清楚,直径2-14cm不等,呈圆形、椭圆形或结节状,少数有包膜,质实而软,体积较大者可伴有出血、坏死或囊性变;
3. 低倍镜下见肿瘤细胞呈“器官样"或“腺泡状”排列,腺泡之间为裂隙状或血窦样毛细血管网;
4. 瘤细胞体积较大,圆形或多边形,边界清楚,胞质丰富,含嗜伊红色颗粒;核大,染色质细致或呈空泡状.可见明显的核仁,核分裂像较少;
5. 大多数病例胞质内可见PAS阳性的针状或棒状结晶物,耐淀粉酶消化;
6. 部分病例瘤细胞胞质透亮或空泡状,易被误诊为转移性肾透明细胞癌;
7. 肿瘤的周边常可见扩张的静脉,常见瘤栓;
8. 个别病例瘤细胞有明显的异型性,并可见活跃的核分裂像;
9. 婴幼儿和儿童病例,瘤细胞多呈小的多边形常呈实性的片状排列,腺泡状结构较少。
免疫组织化学染色:
TFE3弥漫强阳性(核表达),部分病例还可表达desmin、MSA和MyoD1(胞质染色),不表达myogenin、AE1/AE3、EMA、CgA、SYN和NF,HMB45,MELAN-A,S100等。
瘤细胞胞浆内可见PAS阳性且耐淀粉酶消化的棒状结晶,电子显微镜下表现为高尔基区附近的棒状致密电子结晶沉积,无横纹和骨骼肌分化证据,
分子标记:
鉴别诊断:
腺泡状横纹肌肉瘤:desmin、MSA、mvogenin和MvoD1常阳性.TFE3阴性。
转移性肾细胞癌:PAX8, CK阳性;
PEComa: HMB45,MELAN-A阳性,部分可TFE3阳性。
预后:
治疗:
参考文献:
Casanova M, Ferrari A, Bisogno G, Cecchetto G, Basso E, De Bernardi B, Indolfi P, Fossati Bellani F, Carli M: Alveolar soft part sarcoma in children and adolescents: A report from the Soft-Tissue Sarcoma Italian Cooperative Group. Ann Oncol. 2000, 11 (11): 1445-1449.
Portera CA, Ho V, Patel SR, Hunt KK, Feig BW, Respondek PM, Yasko AW, Benjamin RS, Pollock RE, Pisters PW: Alveolar soft part sarcoma: clinical course and patterns of metastasis in 70 patients treated at a single institution. Cancer. 2001, 91 (3): 585-591.
Folpe AL, Deyrup AT: Alveolar soft-part sarcoma: a review and update. J Clin Pathol. 2006, 59 (11): 1127-1132.
Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Cin PD, Bridge J: The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene. 2001, 20 (1): 48-57.