The HTN3-MSANTD3 Fusion Gene Defines a Subset of Acinic Cell Carcinoma of the Salivary Gland
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The HTN3-MSANTD3 Fusion Gene Defines a Subset of Acinic Cell Carcinoma of the Salivary Gland. / Andreasen, Simon; Varma, Sushama; Barasch, Nicholas; Thompson, Lester D R; Miettinen, Markku; Rooper, Lisa; Stelow, Edward B; Agander, Tina K; Seethala, Raja R; Chiosea, Simion I; Homøe, Preben; Wessel, Irene; Larsen, Stine R; Erentaite, Daiva; Bishop, Justin A; Ulhøi, Benedicte P; Kiss, Katalin; Melchior, Linea C; Pollack, Jonathan R; West, Robert B.
In: American Journal of Surgical Pathology, Vol. 43, No. 4, 2019, p. 489–496.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - The HTN3-MSANTD3 Fusion Gene Defines a Subset of Acinic Cell Carcinoma of the Salivary Gland
AU - Andreasen, Simon
AU - Varma, Sushama
AU - Barasch, Nicholas
AU - Thompson, Lester D R
AU - Miettinen, Markku
AU - Rooper, Lisa
AU - Stelow, Edward B
AU - Agander, Tina K
AU - Seethala, Raja R
AU - Chiosea, Simion I
AU - Homøe, Preben
AU - Wessel, Irene
AU - Larsen, Stine R
AU - Erentaite, Daiva
AU - Bishop, Justin A
AU - Ulhøi, Benedicte P
AU - Kiss, Katalin
AU - Melchior, Linea C
AU - Pollack, Jonathan R
AU - West, Robert B
PY - 2019
Y1 - 2019
N2 - The spectrum of tumors arising in the salivary glands is wide and has recently been shown to harbor a network of tumor-specific fusion genes. Acinic cell carcinoma (AciCC) is one of the more frequently encountered types of salivary gland carcinoma, but it has remained a genetic orphan until recently when a fusion between the HTN3 and MSANTD3 genes was described in one case. Neither of these 2 genes is known to be implicated in any other malignancy. This study was undertaken to investigate whether the HTN3-MSANTD3 fusion is a recurrent genetic event in AciCC and whether it is a characteristic of one of its histological variants. Of the 273 AciCCs screened, 9 cases showed rearrangement of MSANTD3 by break-apart fluorescence in situ hybridization, 2 had 1 to 2 extra signals, and 1 had gain, giving a total of 4.4% with MSANTD3 aberrations. In 6 of 7 available cases with MSANTD3 rearrangement, the HTN3-MSANTD3 fusion transcript was demonstrated with real-time polymerase chain reaction . Histologically, all fusion-positive cases were predominantly composed of serous tumor cells growing in solid sheets, with serous tumor cells expressing DOG-1 and the intercalated duct-like cell component being CK7 positive and S-100 positive in 6/9 cases. All but one case arose in the parotid gland, and none of the patients experienced a recurrence during follow-up. In contrast, the case with MSANTD3 gain metastasized to the cervical lymph nodes and lungs. In conclusion, we find the HTN3-MSANTD3 gene fusion to be a recurrent event in AciCC with prominent serous differentiation and an indolent clinical course.
AB - The spectrum of tumors arising in the salivary glands is wide and has recently been shown to harbor a network of tumor-specific fusion genes. Acinic cell carcinoma (AciCC) is one of the more frequently encountered types of salivary gland carcinoma, but it has remained a genetic orphan until recently when a fusion between the HTN3 and MSANTD3 genes was described in one case. Neither of these 2 genes is known to be implicated in any other malignancy. This study was undertaken to investigate whether the HTN3-MSANTD3 fusion is a recurrent genetic event in AciCC and whether it is a characteristic of one of its histological variants. Of the 273 AciCCs screened, 9 cases showed rearrangement of MSANTD3 by break-apart fluorescence in situ hybridization, 2 had 1 to 2 extra signals, and 1 had gain, giving a total of 4.4% with MSANTD3 aberrations. In 6 of 7 available cases with MSANTD3 rearrangement, the HTN3-MSANTD3 fusion transcript was demonstrated with real-time polymerase chain reaction . Histologically, all fusion-positive cases were predominantly composed of serous tumor cells growing in solid sheets, with serous tumor cells expressing DOG-1 and the intercalated duct-like cell component being CK7 positive and S-100 positive in 6/9 cases. All but one case arose in the parotid gland, and none of the patients experienced a recurrence during follow-up. In contrast, the case with MSANTD3 gain metastasized to the cervical lymph nodes and lungs. In conclusion, we find the HTN3-MSANTD3 gene fusion to be a recurrent event in AciCC with prominent serous differentiation and an indolent clinical course.
U2 - 10.1097/PAS.0000000000001200
DO - 10.1097/PAS.0000000000001200
M3 - Journal article
C2 - 30520817
VL - 43
SP - 489
EP - 496
JO - American Journal of Surgical Pathology
JF - American Journal of Surgical Pathology
SN - 0147-5185
IS - 4
ER -
ID: 209634416