Clinicopathologic characterization of malignant chondroblastoma: a neoplasm with locally aggressive behavior and metastatic potential that closely mimics chondroblastoma-like osteosarcoma.
Clinicopathologic characterization of malignant chondroblastoma: a neoplasm with locally aggressive behavior and metastatic potential that closely mimics chondroblastoma-like osteosarcoma.
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DOI：
10.1038/s41379-020-0604-2
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发表时间：
2020-11
期刊：
影响因子：
--
通讯作者：
Hornick JL
中科院分区：
文献类型：
--
作者：
Papke DJ;Hung YP;Schaefer IM;Bredella MA;Charville GW;Reith JD;Fletcher CDM;Nielsen GP;Hornick JL
软骨母细胞瘤目前被归类为良性肿瘤；然而，软骨母细胞瘤和软骨母细胞瘤样骨肉瘤在形态上存在重叠，这增加了一些被诊断为软骨母细胞瘤样骨肉瘤的肿瘤实际上可能是恶性软骨母细胞瘤的可能性。H3F3B K36M点突变在骨肉瘤中未见报道，在95%的软骨母细胞瘤中被发现，并可通过免疫组织化学(IHC)可靠地检测到。我们回顾了11个被诊断为不典型软骨母细胞瘤、恶性软骨母细胞瘤或软骨母细胞瘤样骨肉瘤的肿瘤(中位随访：8.8年；范围：4个月-26.4年)。7例软骨母细胞瘤细胞学不典型，呈渗透性生长，经IHC确诊为“恶性软骨母细胞瘤”，6例H3K36M阳性。相对于传统的软骨母细胞瘤，恶性软骨母细胞瘤发生在老年人(中位数：52岁；范围：29-57岁)，并发生在罕见的部位。有长期随访的四个肿瘤中有三个复发，一名患者死于广泛转移。其中1例除H3F3B K36M外，还存在染色体拷贝数改变和SETD2突变。剩下的四个肿瘤被归类为软骨母细胞瘤样骨肉瘤。软骨母细胞瘤样骨肉瘤发生在比恶性软骨母细胞瘤更年轻的患者(中位数：21岁；范围：19-40岁)。与恶性软骨母细胞瘤不同的是，它们都有形成骨的恶性细胞区域。有长期随访的三名患者中有两人复发，两人死于疾病，一人有广泛转移。Sanger测序未检测到H3F3A/H3F3B突变。虽然恶性软骨母细胞瘤和软骨母细胞瘤样骨肉瘤在形态上有显著的重叠，但它们有不同的临床表现和遗传学表现。当考虑到这一具有挑战性的鉴别诊断时，使用组蛋白H3突变特异性抗体的IHC是一个关键的诊断辅助工具。
Chondroblastoma is currently classified as a benign neoplasm; however, chondroblastoma and chondroblastoma-like osteosarcoma have morphologic overlap, raising the possibility that some tumors diagnosed as chondroblastoma-like osteosarcoma might actually represent malignant chondroblastoma. The H3F3B K36M point mutation, which has not been reported in osteosarcoma, is identified in 95% of chondroblastomas and is reliably detectable by immunohistochemistry (IHC). We reviewed 11 tumors diagnosed as atypical chondroblastoma, malignant chondroblastoma, or chondroblastoma-like osteosarcoma (median follow-up: 8.8 years; range: 4 months–26.4 years). Seven chondroblastomas with cytologic atypia and permeative growth were designated “malignant chondroblastoma”; six were H3K36M-positive by IHC. Relative to conventional chondroblastoma, malignant chondroblastoma occurred in older individuals (median: 52 years; range: 29–57 years) and arose at unusual sites. Three of four tumors with long-term follow-up recurred, and one patient died of widespread metastases. One was found to have chromosomal copy number alter4ations and a SETD2 mutation in addition to H3F3B K36M. The four remaining tumors were classified as chondroblastoma-like osteosarcoma. Chondroblastoma-like osteosarcoma occurred in younger patients (median: 21 years; range: 19–40 years) than malignant chondroblastoma. In contrast to malignant chondroblastoma, all had regions of malignant cells forming bone. Two of three patients with long-term follow-up developed recurrences, and two died of disease, one with widespread metastases. No mutations in H3F3A/H3F3B were detected by Sanger sequencing. While malignant chondroblastoma and chondroblastoma-like osteosarcoma show significant morphologic overlap, they have distinct clinical presentations and genetic findings. When considering this challenging differential diagnosis, IHC using histone H3 mutation-specific antibodies is a critical diagnostic adjunct.
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DOI：
10.1126/science.aac7272
发表时间：
2016-05-13
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Lu C;Jain SU;Hoelper D;Bechet D;Molden RC;Ran L;Murphy D;Venneti S;Hameed M;Pawel BR;Wunder JS;Dickson BC;Lundgren SM;Jani KS;De Jay N;Papillon-Cavanagh S;Andrulis IL;Sawyer SL;Grynspan D;Turcotte RE;Nadaf J;Fahiminiyah S;Muir TW;Majewski J;Thompson CB;Chi P;Garcia BA;Allis CD;Jabado N;Lewis PW
通讯作者：
Lewis PW
影响因子：
3.7
作者：
Saba, Karim H.;Cornmark, Louise;Nord, Karolin H.
通讯作者：
Nord, Karolin H.
影响因子：
3.4
作者：
Schaefer IM;Fletcher JA;Nielsen GP;Shih AR;Ferrone ML;Hornick JL;Qian X
通讯作者：
Qian X
影响因子：
6.4
作者：
Lu, Chuanyong;Ramirez, Daniel;Hameed, Meera
通讯作者：
Hameed, Meera
影响因子：
30.8
作者：
Behjati, Sam;Tarpey, Patrick S.;Presneau, Nadege;Scheipl, Susanne;Pillay, Nischalan;Van Loo, Peter;Wedge, David C.;Cooke, Susanna L.;Gundem, Gunes;Davies, Helen;Nik-Zainal, Serena;Martin, Sancha;McLaren, Stuart;Goodie, Victoria;Robinson, Ben;Butler, Adam;Teague, Jon W.;Halai, Dina;Khatri, Bhavisha;Myklebost, Ola;Baumhoer, Daniel;Jundt, Gernot;Hamoudi, Rifat;Tirabosco, Roberto;Amary, M. Fernanda;Futreal, P. Andrew;Stratton, Michael R.;Campbell, Peter J.;Flanagan, Adrienne M.
通讯作者：
Flanagan, Adrienne M.