Table 1 Clinico-histopathologic data on de-/trans-differentiated melanoma patients and their tumors.

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

Individual

Sample ID

Tissue type

Diagnosis

Age/gender

Site

Conventional melanoma

Heterologous component

Breslow thickness (mm)

Clark level

TILs

TMB (mut/Mb)

Driver genes

Treatment

Recurrence/Metastasis

Follow-up (months)

Patient’s status

1

PD42795a/PR42795a

Conventional melanoma

Dedifferentiated melanoma

69/M

Left ear

SSM

Dedifferentiated,

AFX-like

5

V

A

49.73

NF1, TP53, BRAF non-p.V600E, CDKN2A, ARID2

U

U

U

U

PD42795b/PR42795b

Normal tissue

/

/

PD42795c/PR42795c

Dedifferentiated melanoma

81.62

NF1, TP53, CDKN2A, ARID2

2

PD42796a/PR42796a

Conventional melanoma

Heterologous epithelial melanoma

85/M

Scalp

DM

Epithelial

20

V

A

99.44

NF1, TP53, BRAF non-p.V600E

WLE and craniectomy

U

34

ANED

PD42796b/PR42796b

Normal tissue

/

/

PD42796c/PR42796c

Transdifferentiated melanoma

97.16

NF1, TP53, BRAF non-p.V600E

3

PD42797a/PR42797a

Conventional melanoma

Heterologous epithelial melanoma

76/F

Left upper arm

NM

Epithelial

12

V

A

10.7

ARID2, NRAS

U

Widespread metastatic disease

24

DFD

PD42797b/PR42797b

Normal tissue

/

/

PD42797c/PR42797c

Transdifferentiated melanoma

10.66

ARID2, NRAS

4

PD42798c/PR42798c

Dedifferentiated melanoma

Dedifferentiated melanoma

42/F

Back

NM

Dedifferentiated,

AFX-like

19

V

NB

8

TP53, BRAF p.V600E, CDKN2A, GNAQ

Excision of all nodal metastases

Chemotherapy for lung metastasis

Satellite metastasis on the back (diagnosed with the primary melanoma)

Bilateral axillary nodal metastasis (diagnosed with the primary melanoma)

Possible lung metastasis (diagnosed 3 months after the primary melanoma)

Supra-clavicular nodal metastasis (diagnosed 1 year after the primary melanoma)

34

ANED

PD42798b/PR42798b

Normal tissue

/

/

PD42798a/PR42798a

In satellite metastasis (dedifferentiated)

0.62

GNAQ

5

PD42799a/PR42799a

Dedifferentiated melanoma

Dedifferentiated melanoma

82/F

Left-arm

LMM

Dedifferentiated,

AFX-like

4.2

IV

NB

33.88

NF1, BRAF non-p.V600E, RAC1

WLE

U

25

ANED

PD42799b/PR42799b

Normal tissue

/

/

6

PD42800a/PR42800a

Conventional melanoma

Heterologous rhabdomyosarcomatous melanoma

86/F

Right lower chin

DM

Rhabdomyosarcomatous

80

V

NB

197.08

NF1, TP53, ATRX, RASA2

U

No recurrence, no metastasis

36

ANED

PD42800b/PR42800b

Normal tissue

/

/

PD42800c/PR42800c

Normal tissue

/

/

PD42800d/PR42800d

Transdifferentiated melanoma

202.46

NF1, TP53, ATRX, RASA2

7

PD45890a

Conventional melanoma

Heterologous rhabdomyosarcomatous melanoma

68/M

Nose

SSM

Rhabdomyosarcomatous

>4

V

NB

91.76

NF1, TP53, CDKN2A, MAP2K1

WLE

Cervical lymph node metastases (diagnosed with the primary melanoma)

Lung metastasis/es (diagnosed 2 months after the primary melanoma)

Brain metastasis/es (diagnosed 6 months after the primary melanoma)

8

DFD

PD45890b

Normal tissue

/

/

PD45890c

Transdifferentiated melanoma

119.27

NF1, TP53, CDKN2A, RAC1

8

/

Case not sequenced

Dedifferentiated melanoma

81/M

Vertex scalp

DM

Dedifferentiated,

AFX-like

4.7

V

A

/

NS

U

U

0

U

9

/

Case not sequenced

Dedifferentiated melanoma

75/M

Right lateral neck

DM

Dedifferentiated,

AFX-like

7

V

NB

/

NS

U

No recurrence, no metastasis

10

ANED

10

/

Case not sequenced

Dedifferentiated melanoma

85/M

Anterior scalp

Spindle cell melanoma

Dedifferentiated,

AFX-like

6

V

NB

/

NS

U

U

0

U

11

/

Case not sequenced

Dedifferentiated melanoma

84/F

Right arm

SSM

Dedifferentiated,

AFX-like

7.8

IV

B

/

NS

U

U

0

U

  1. Samples with a PD code refer to DNA samples, while PR codes refer to RNA samples.
  2. A absent, ANED alive no evidence of the disease, B brisk, DFD dead from disease, F female, M male, mut/Mb mutations/megabase, NB non-brisk, NS not sequenced, TILs tumor-infiltrating lymphocytes, TMB tumor mutational burden, U unknown, WLE wide local excision.