Aickara Divya J, McBride Jeffrey, Morrison Brian, Romanelli Paolo
Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, Leonard M. Miller School of Medicine, University of Miami, Coral Gables, Florida.
J Cutan Pathol. 2020 Apr;47(4):398-401. doi: 10.1111/cup.13611. Epub 2019 Nov 25.
Gastrointestinal stromal tumors (GISTs) are mesenchymal neoplasms which account for less than 1% of all gastrointestinal malignancies. Of all the extra-abdominal metastases of GIST, superficial soft tissue metastases are the rarest. Previous reports have found success with sunitinib in imatinib-resistant GIST, but we report a certain wild-type KIT mutation GIST with cutaneous and subcutaneous metastasis that was unresponsive to multiple tyrosine kinase inhibitor (TKI) treatments. This case illustrates that knowing the specific type of KIT mutations may uncover resistance of certain GIST's to TKIs, necessitating more targeted and alternative therapy.
胃肠道间质瘤（GISTs）是间叶性肿瘤，占所有胃肠道恶性肿瘤的比例不到1%。在GIST的所有腹外转移中，浅表软组织转移最为罕见。既往报道显示，舒尼替尼对伊马替尼耐药的GIST有效，但我们报告了1例具有皮肤和皮下转移的特定野生型KIT突变GIST，该病例对多种酪氨酸激酶抑制剂（TKI）治疗均无反应。该病例表明，了解KIT突变的具体类型可能会发现某些GIST对TKIs耐药，因此需要更有针对性的替代疗法。
