• Je něco špatně v tomto záznamu ?

Cutaneous Hemangioma With Epithelioid Features Harboring TPM3/4::ALK Fusions : A Distinct Entity or a Molecular Variant of Epithelioid Hemangioma

CA. Dehner, G. Jour, M. Gassenmaier, M. Michal, N. de Saint Aubain, DJ. Papke, B. Umphress, A. Li, MM. Tanner, E. Calonje, T. Brenn, CDM. Fletcher, T. Mentzel, K. Busam, K. Linos

. 2025 ; 49 (6) : 610-619. [pub] 20250312

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, kazuistiky

Perzistentní odkaz   https://www.medvik.cz/link/bmc25015537

Vascular neoplasms with epithelioid cytomorphology encompass a wide spectrum of benign and malignant lesions, including epithelioid hemangioma (EH), cutaneous epithelioid angiomatous nodule (CEAN), epithelioid hemangioendothelioma (EHE), and epithelioid angiosarcoma (EAS). Recently, the first case of a cutaneous hemangioma with epithelioid features harboring a TPM3::ALK fusion was reported. Herein, we report 4 additional cases, including 1 case with an alternate TPM4::ALK fusion, and expand on the clinicopathologic and molecular genetic features of these unusual vascular lesions. Including the previously reported case, 5 tumors occurred in 4 male and 1 female patients with a median age of 14 years (range: 2 to 38 y) and involved the shoulder region (2), the lower extremity (1), trunk (1), and head and neck (1). Clinical follow-up (3 patients; 60%) showed no evidence of disease at the last follow-up (median: 5 mo; range: 1 to 16 mo). Histologically, all tumors showed highly similar morphologic features, including an epidermal collarette, well-formed vascular channels composed of epithelioid endothelial cells with intracytoplasmic vacuoles, and admixed inflammatory cells. Immunohistochemically, all tumors were positive for vascular markers such as ERG and CD31, along with strong and diffuse cytoplasmic expression of ALK. RNA sequencing revealed recurrent TPM3 exon 8 :: ALK exon 20 (4) and TPM4 exon 7 :: ALK exon 20 fusions (1). We conclude that cutaneous hemangiomas with epithelioid features harboring TPM3/4::ALK fusions show consistent morphologic, immunophenotypic, and molecular genetic features. It remains to be determined whether this neoplasm represents a distinct entity or a molecular variant of epithelioid hemangioma.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc25015537
003      
CZ-PrNML
005      
20250731091045.0
007      
ta
008      
250708s2025 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1097/PAS.0000000000002380 $2 doi
035    __
$a (PubMed)40070162
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Dehner, Carina A $u Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN $1 https://orcid.org/0000000152144813
245    10
$a Cutaneous Hemangioma With Epithelioid Features Harboring TPM3/4::ALK Fusions : A Distinct Entity or a Molecular Variant of Epithelioid Hemangioma / $c CA. Dehner, G. Jour, M. Gassenmaier, M. Michal, N. de Saint Aubain, DJ. Papke, B. Umphress, A. Li, MM. Tanner, E. Calonje, T. Brenn, CDM. Fletcher, T. Mentzel, K. Busam, K. Linos
520    9_
$a Vascular neoplasms with epithelioid cytomorphology encompass a wide spectrum of benign and malignant lesions, including epithelioid hemangioma (EH), cutaneous epithelioid angiomatous nodule (CEAN), epithelioid hemangioendothelioma (EHE), and epithelioid angiosarcoma (EAS). Recently, the first case of a cutaneous hemangioma with epithelioid features harboring a TPM3::ALK fusion was reported. Herein, we report 4 additional cases, including 1 case with an alternate TPM4::ALK fusion, and expand on the clinicopathologic and molecular genetic features of these unusual vascular lesions. Including the previously reported case, 5 tumors occurred in 4 male and 1 female patients with a median age of 14 years (range: 2 to 38 y) and involved the shoulder region (2), the lower extremity (1), trunk (1), and head and neck (1). Clinical follow-up (3 patients; 60%) showed no evidence of disease at the last follow-up (median: 5 mo; range: 1 to 16 mo). Histologically, all tumors showed highly similar morphologic features, including an epidermal collarette, well-formed vascular channels composed of epithelioid endothelial cells with intracytoplasmic vacuoles, and admixed inflammatory cells. Immunohistochemically, all tumors were positive for vascular markers such as ERG and CD31, along with strong and diffuse cytoplasmic expression of ALK. RNA sequencing revealed recurrent TPM3 exon 8 :: ALK exon 20 (4) and TPM4 exon 7 :: ALK exon 20 fusions (1). We conclude that cutaneous hemangiomas with epithelioid features harboring TPM3/4::ALK fusions show consistent morphologic, immunophenotypic, and molecular genetic features. It remains to be determined whether this neoplasm represents a distinct entity or a molecular variant of epithelioid hemangioma.
650    _2
$a lidé $7 D006801
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a mužské pohlaví $7 D008297
650    12
$a nádory kůže $x genetika $x patologie $7 D012878
650    _2
$a dospělí $7 D000328
650    _2
$a mladiství $7 D000293
650    12
$a tropomyosin $x genetika $7 D014335
650    12
$a nádorové biomarkery $x genetika $x analýza $7 D014408
650    _2
$a mladý dospělý $7 D055815
650    _2
$a dítě $7 D002648
650    12
$a anaplastická lymfomová kináza $x genetika $7 D000077548
650    _2
$a předškolní dítě $7 D002675
650    12
$a hemangiom $x genetika $x patologie $7 D006391
650    12
$a epiteloidní buňky $x patologie $7 D015622
650    _2
$a fúze genů $7 D050939
650    _2
$a fenotyp $7 D010641
655    _2
$a časopisecké články $7 D016428
655    _2
$a kazuistiky $7 D002363
700    1_
$a Jour, George $u Department of Pathology, New York University
700    1_
$a Gassenmaier, Maximilian $u MVZ Dermatopathologie Friedrichshafen/Bodensee PartG
700    1_
$a Michal, Michael $u Biopticka Laboratory, Pilsen, Czech Republic
700    1_
$a de Saint Aubain, Nicolas $u Department of Pathology, Institut Jules, Bordet, Brussels, Belgium
700    1_
$a Papke, David J $u Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, MA
700    1_
$a Umphress, Brandon $u Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN
700    1_
$a Li, Aofei $u Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN
700    1_
$a Tanner, Mark M $u Dermatologie, Noerdlingen, Germany
700    1_
$a Calonje, Eduardo $u Department of Dermatopathology, St. John's Institute of Dermatology, St. Thomas' Hospital, London, UK
700    1_
$a Brenn, Thomas $u Department of Pathology, University of Michigan, Ann Arbor, MI
700    1_
$a Fletcher, Christopher D M $u Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, MA
700    1_
$a Mentzel, Thomas $u MVZ Dermatopathologie Friedrichshafen/Bodensee PartG
700    1_
$a Busam, Klaus $u Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY
700    1_
$a Linos, Konstantinos $u Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY $1 https://orcid.org/000000019462652
773    0_
$w MED00000304 $t The American journal of surgical pathology $x 1532-0979 $g Roč. 49, č. 6 (2025), s. 610-619
856    41
$u https://pubmed.ncbi.nlm.nih.gov/40070162 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y - $z 0
990    __
$a 20250708 $b ABA008
991    __
$a 20250731091040 $b ABA008
999    __
$a ok $b bmc $g 2366403 $s 1252662
BAS    __
$a 3
BAS    __
$a PreBMC-MEDLINE
BMC    __
$a 2025 $b 49 $c 6 $d 610-619 $e 20250312 $i 1532-0979 $m The American journal of surgical pathology $n Am J Surg Pathol $x MED00000304
LZP    __
$a Pubmed-20250708

Najít záznam

Citační ukazatele

Možnosti archivace