The clinicopathologic spectrum and genomic landscape of de-/trans-differentiated melanoma

Ferreira, Ingrid; Droop, Alastair P.; Edwards, Olivia; Wong, Kim; Harle, Victoria; Habeeb, Omar; Gharpuray-Pandit, Deepa; Houghton, Joseph; Wiedemeyer, Katharina; Mentzel, Thomas; Billings, Steven D.; Ko, Jennifer S.; Füzesi, L.; Mulholland, Kathleen M.; Prusac, Ivana Kuzmić; Liegl‐Atzwanger, Bernadette; Aubain, Nicolas De Saint; Caldwell, Helen; Riva, Laura; Weyden, Louise van der; Arends, Mark J.; Brenn, Thomas; Adams, David J.

doi:10.1038/s41379-021-00857-z

Cited by 19 publications

(58 citation statements)

References 72 publications

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“…In general, tumor cells change their identity along the path of differentiation, backward or forward. Differentiated tumor cells de-differentiating to an earlier stage, or even progenitor phenotype, is commonly seen in soft tissue sarcoma ( 23 – 25 ). Sometimes small B-cell lymphomas, such as marginal zone B-cell lymphoma, demonstrate differentiation toward terminally differentiated plasma cells, or even overwhelmed by plasma cells, particularly after therapy ( 26 , 27 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Phenotypic Switch in High-Grade B-Cell Lymphoma With MYC and BCL6 Rearrangements: A Potential Mechanism of Therapeutic Resistance in Lymphoma?

et al. 2021

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Lineage switch between myeloid and lymphoid in acute leukemia is well established as a mechanism for leukemic cells to escape chemotherapy. Cross-lineage transformation is also recognized in some solid tumors on targeted therapy, such as adenocarcinomas of the lung and prostate that transforms to neuroendocrine carcinoma on targeted therapy. Now lineage plasticity is increasingly recognized in mature lymphomas, such as small B-cell lymphomas transforming to histiocytic/dendritic cell sarcoma. However, there is no report of aggressive mature B-cell lymphoma switching from one histologic category to another upon targeted therapy. We report here a case of high-grade B-cell lymphoma with MYC and BCL6 rearrangements relapsing as a high-grade plasmablastic neoplasm with MYC and BCL6 rearrangements after R-CHOP and R-EPOCH therapy. Being aware of this rare scenario will help improve our understanding of the underlying mechanisms of therapeutic resistance and progression of lymphoma.

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Section: Discussionmentioning

confidence: 99%

Case Report: Phenotypic Switch in High-Grade B-Cell Lymphoma With MYC and BCL6 Rearrangements: A Potential Mechanism of Therapeutic Resistance in Lymphoma?

et al. 2021

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“…In addition, lymphovascular (31%) and perineural (19%) invasion may be present (Table 2). 7,9,11,13 De-/trans-differentiated melanomas are characterised by a biphasic growth pattern with a background of a conventional melanoma in addition to the de-/transdifferentiated component, while undifferentiated melanoma lacks the conventional melanoma component (Figure 2B). The conventional melanoma may be entirely in situ or invasive and spans the spectrum of melanoma subtypes, including superficial spreading, nodular, lentigo maligna, desmoplastic, acral lentiginous, mucosal and spindle cell melanoma (Figure 3A-F).…”

Section: H I S T O L O G I C a L F I N D I N G Smentioning

confidence: 99%

“…Many de-/trans-differentiated melanomas (22%) have been reported in association with desmoplastic melanoma (Figure 4A-F). 4,8,13 The de-/trans-differentiated component typically accounts for more than 50% of the tumour and its transition from the conventional component is abrupt, rather than gradual. The most commonly observed finding is de-differentiation followed by rhabdomyosarcomatous trans-differentiation.…”

Section: H I S T O L O G I C a L F I N D I N G Smentioning

confidence: 99%

“…3,4 In contrast, this manuscript mainly focuses upon de-/trans-differentiation in primary melanoma, which appears to be a particularly rare phenomenon, with only 27 cases reported in the literature to date (Table 2). 3,4,[6][7][8][9][10][11][12][13] Primary de-/transdifferentiated melanomas mainly affect the skin, but rare examples have also been reported on noncutaneous mucosal sites. 4,9 Clinical presentation Primary de-/trans-differentiated melanomas present as large and frequently ulcerated nodules and plaques, often measuring multiple centimetres in diameter.…”

Section: Introductionmentioning

confidence: 99%

“…4,9 Clinical presentation Primary de-/trans-differentiated melanomas present as large and frequently ulcerated nodules and plaques, often measuring multiple centimetres in diameter. [6][7][8]12,13 They affect a wide range of anatomical sites, but appear to be most common on sundamaged skin of the head and neck with a predilection for elderly men with a median age of 75 years (mean = 73 years; range = 42-90) and a male to female ratio of 1.7:1. 3,4,[6][7][8][9][10][11][12][13] The disease rarely affects mucosal sites, including the respiratory, gastrointestinal and gynaecological tracts.…”

Section: Introductionmentioning

confidence: 99%

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Primary de‐differentiated, trans‐differentiated and undifferentiated melanomas: overview of the clinicopathological, immunohistochemical and molecular spectrum

et al. 2021

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Primary cutaneous and mucosal melanoma shows a wide histological spectrum. The correct diagnosis depends upon the demonstration of melanocytic differentiation by recognition of an associated in‐situ component or immunohistochemical evidence of a melanocytic phenotype using conventional melanocytic markers, such as S‐100, SOX10, Melan‐A and HMB‐45. Exceptionally, melanomas lose their melanocytic phenotype, at least focally, and show differentiation towards other lineages. Review of the literature shows that de‐ and trans‐differentiation in melanoma is rare but probably under‐recognised and under‐reported. These often large and frequently ulcerated tumours affect adults and show a wide anatomical distribution, including mucosal sites, although there is a predilection for sun‐damaged skin of the head and neck. Histologically, the tumours are biphasic and contain a pre‐existing conventional melanoma. The de‐differentiated component closely resembles atypical fibroxanthoma, both morphologically and immunohistochemically. Trans‐differentiated melanoma may show rhabdomyosarcomatous or spindle cell carcinomatous features. Undifferentiated melanomas are similar tumours in which the conventional melanoma component is absent. Their diagnosis depends entirely upon the clinical context and identification of a classical melanoma driver gene mutation, i.e. BRAF V600E. The diagnosis of these rare and unusual tumours is challenging, and requires thorough tumour sampling and recognition of the background of a pre‐existing but often focal conventional melanoma together with molecular analysis.

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The practical utility of AI-assisted molecular profiling in the diagnosis and management of cancer of unknown primary: an updated review

Lorkowski,

Dermawan,

Rubin

2023

Virchows Arch

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The clinicopathologic spectrum and genomic landscape of de-/trans-differentiated melanoma

Cited by 19 publications

References 72 publications

Case Report: Phenotypic Switch in High-Grade B-Cell Lymphoma With MYC and BCL6 Rearrangements: A Potential Mechanism of Therapeutic Resistance in Lymphoma?

Case Report: Phenotypic Switch in High-Grade B-Cell Lymphoma With MYC and BCL6 Rearrangements: A Potential Mechanism of Therapeutic Resistance in Lymphoma?

Primary de‐differentiated, trans‐differentiated and undifferentiated melanomas: overview of the clinicopathological, immunohistochemical and molecular spectrum

The practical utility of AI-assisted molecular profiling in the diagnosis and management of cancer of unknown primary: an updated review

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