PHF1 Rearrangements in Ossifying Fibromyxoid Tumors of Soft Parts A Fluorescence In Situ Hybridization Study of 41 Cases With Emphasis on the Malignant Variant
PHF1 Rearrangements in Ossifying Fibromyxoid Tumors of Soft Parts A Fluorescence In Situ Hybridization Study of 41 Cases With Emphasis on the Malignant Variant
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DOI：
10.1097/pas.0b013e31829644b4
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发表时间：
2013-11-01
影响因子：
5.6
通讯作者：
Folpe, Andrew L.
中科院分区：
文献类型：
--
作者：
Graham, Rondell P.;Weiss, Sharon W.;Folpe, Andrew L.
软组织骨化性纤维粘液样肿瘤（OFMT）是一种罕见的软组织肿瘤，分化程度不确定。最近经常性的PHF1基因重排已报告OFMT，包括典型的，非典型的，和恶性变异。我们试图验证和扩展这些发现在一个更大的系列的特点OFMT，特别是恶性变异。从41个OFMT的切片和组织块中检索、复查，并使用先前发表的标准将其分类为典型、非典型和恶性。间期荧光原位杂交（FISH）进行石蜡包埋切片的每种情况下，使用分离探针策略，与直接标记的FISH探针设计的细菌人工染色体。41例肿瘤发生在23名男性和18名女性中，平均年龄为55岁，涉及头颈部、躯干和上下肢。其中典型肿瘤14例，非典型肿瘤6例，恶性肿瘤21例。在41例病例中有20例（49%）检测到PHF1重排，其中43%为典型病例，50%为非典型病例，52%为恶性病例。我们的研究结果证实了以前的发现，PHF1重排存在于近50%的OFMT中，包括典型、非典型和恶性肿瘤的大致相似的百分比。这些结果支持了我们先前的假设，即OFMT可能代表一种易位相关的肿瘤，强调了PHF1重排在这些病变的发病机制中的可能重要性，证实了典型和恶性OFMT之间的关系，并建议PHF1 FISH在形态学上具有挑战性的病例的诊断中的作用。
Ossifying fibromyxoid tumor of soft parts (OFMT) is a rare soft tissue neoplasm of uncertain differentiation. Very recently recurrent rearrangements of the PHF1 gene have been reported in OFMT, including typical, atypical, and malignant variants. We sought to validate and extend these findings in a larger series of well-characterized OFMT, in particular malignant variants. Slides and blocks from 41 OFMT were retrieved, rereviewed, and classified as typical, atypical, and malignant using previously published criteria. Interphase fluorescence in situ hybridization (FISH) was performed on paraffin-embedded sections of each case using a break-apart probe strategy, with direct-labeled FISH probes designed from bacterial artificial chromosomes. The 41 tumors occurred in 23 men and 18 women with a mean age of 55 years and involved the head and neck, trunk, and upper and lower limbs. The tumors were classified as typical (n = 14), atypical (n = 6) and malignant (n = 21). PHF1 rearrangements were detected in 20 of 41 cases (49%) including 43% typical, 50% atypical, and 52% malignant cases. The results of our study confirm previous findings, with PHF1 rearrangements present in nearly 50% of OFMT, including roughly similar percentages of typical, atypical, and malignant tumors. These results support our previous hypothesis that OFMT might represent a translocation-associated tumor, underscore the likely importance of PHF1 rearrangements in the pathogenesis of these lesions, confirm the relationship between typical and malignant OFMT, and suggest a role for PHF1 FISH in the diagnosis of morphologically challenging cases.