期刊
BLOOD ADVANCES
卷 5, 期 3, 页码 649-661出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/bloodadvances.2020002469
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资金
- Foglia Family Foundation
- National Institutes of Health (NIH), National Cancer Institute [K23CA184279]
- American Society of Hematology/Amos Medical Faculty Development Program
- NIH, National Cancer Institute [K08-CA191019-01A1]
- National Center for Advancing Translational Sciences (NCATS) [UL1TR001422]
- Damon Runyon Cancer Research Foundation [DRCRF CI-84-16]
- Doris Duke Charitable Foundation [DDCF 2016095]
- Dermatology Foundation Medical Dermatology Career Development Award
- Cutaneous Lymphoma Foundation Catalyst Research grant
- Northwestern University Clinical and Translational Sciences Institute (NUCATS)
- NIH, NCATS [KL2TR00142405A1]
- NIH, National Library of Medicine [T15-LM011271]
PCFCL is a unique entity with distinct biological features, usually restricted to the skin and different from usual systemic FL and SCFL.
Primary cutaneous follicle center lymphomas (PCFCLs) are indolent B-cell lymphomas that predominantly remain skin restricted and manageable with skin-directed therapy. Conversely, secondary cutaneous involvement by usual systemic follicular lymphoma (secondary cutaneous follicular lymphoma [SCFLJ) has a worse prognosis and often necessitates systemic therapy. Unfortunately, no histopathologic or genetic features reliably differentiate PCFCL from SCFL at diagnosis. Imaging may miss low-burden internal disease in some cases of SCFLs, leading to misclassification as PCFCL. Whereas usual systemic FL is well characterized genetically, the genomic landscapes of PCFCL and SCFL are unknown. Herein, we analyzed clinicopathologic and immunophenotypic data from 30 cases of PCFCL and 10 of SCFL and performed whole-exome sequencing on 18 specimens of PCFCL and 6 of SCFL. During a median follow-up of 7 years, 26 (87%) of the PCFCLs remained skin restricted. In the remaining 4 cases, systemic disease developed within 3 years of diagnosis. Although the SCFLs universally expressed BCL2 and had BCL2 rearrangements, 73% of the PCFCLs lacked BCL2 expression, and only 8% of skin-restricted PCFCLs had BCL2 rearrangements. SCFLs showed low proliferation fractions, whereas 75% of PCFCLs had proliferation fractions >30%. Of the SCFLs, 67% had characteristic loss-of-function CREBBP or KMT2D mutations vs none in skin-restricted PCFCL. Both SCFL and skin-restricted PCFCL showed frequent TNFRSF14 loss-of-function mutations and copy number loss at chromosome 1p36. These data together establish PCFCL as a unique entity with biological features distinct from usual systemic FL and SCFL. We propose 3 criteria based on BCL2 rearrangement, chromatin-modifying gene mutations (CREBBP, KMT2D, EZH2, and EPSOM, and proliferation index to classify cutaneous FL specimens based on the likelihood of concurrent or future systemic spread.
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