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Primary Cutaneous CD30-Positive Lymphoproliferative Disorder With Gamma-Delta T-Cells: A Molecular-Annotated Case
David Weiner1, Joi B Carter2, Frederick Lansigan3
1Department of Dermatology, Johns Hopkins Hospital, Baltimore, Maryland, USA.
Insights
This study details a rare case of CD30-positive lymphoproliferative disorder (CD30+LPD) in gamma-delta T-cells, presenting as indolent primary cutaneous anaplastic large cell lymphoma (pcALCL) and lymphomatoid papulosis (LyP). Molecular analysis revealed specific mutations and aneuploidy, aiding in understanding this rare T-cell lymphoma.
Area of Science:
- Hematology
- Oncology
- Dermatology
Background:
- CD30-positive lymphoproliferative disorders (CD30+LPD) are a group of skin conditions.
- Gamma-delta T-cell lymphomas are rare subtypes of cutaneous lymphomas.
Purpose of the Study:
- To present a rare case of CD30+LPD composed of gamma-delta T-cells.
- To analyze the clinical, histopathologic, and molecular features of this indolent T-cell lymphoma.
- To review the literature on similar rare cases.
Main Methods:
- Clinical follow-up and multiple biopsies over 4 years.
- Histopathologic examination to determine lymphoma type.
- Whole-exome sequencing to identify mutations.
- Copy-number profiling to detect aneuploidy.
Main Results:
- The patient was diagnosed with primary cutaneous anaplastic large cell lymphoma (pcALCL) and lymphomatoid papulosis (LyP).
- Sequencing identified missense mutations in ADGRA2, EPHA7, ERBB2, LRP1B, NOD1, RAF1, RICTOR, and WDR90.
- Aneuploidy, including gain of 1q and loss of 16q and 19p13.3, was observed.
- No gene fusions were detected.
Conclusions:
- The findings suggest a complex genetic landscape in indolent CD30+LPD with gamma-delta T-cells.
- While specific mutations and aneuploidy were identified, they were insufficient for a definitive pcGDTCL diagnosis.
- This case contributes to understanding rare T-cell lymphomas and their molecular underpinnings.
Abstract:
We report a case of a patient with a CD30-positive lymphoproliferative disorder (CD30+LPD) comprised of gamma-delta T-cells. After 4 years of clinical follow-up with conservative management and multiple biopsies, the indolent course and histopathologic findings best support a diagnosis of primary cutaneous anaplastic large cell lymphoma (pcALCL) with concomitant lymphomatoid papulosis (LyP)-type lesions. Sequencing revealed missense mutations involving ADGRA2, EPHA7, ERBB2, LRP1B, NOD1, RAF1, RICTOR, and WDR90. No fusions were identified. Review of the copy-number profile revealed aneuploidy, which included gain of 1q, loss of 16q, and loss of 19p13.3. Altogether, these findings were insufficient to establish a diagnosis of pcGDTCL. We review the clinical, histopathologic, and molecular sequencing data pertaining to our rare patient as well as the recent literature on indolent CD30+LPD with gamma-delta T-cells.
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