TY - JOUR
T1 - Oesophageal glomus tumours
T2 - rare neoplasms with aggressive clinical behaviour
AU - Birkness-Gartman, Jacqueline E.
AU - Wangsiricharoen, Sintawat
AU - Lazar, Alexander J.
AU - Gross, John M.
N1 - Funding Information:
The authors thank Norman Barker, MS, MA, RBP for his assistance with preparing figures for this article.
Publisher Copyright:
© 2023 The Authors. Histopathology published by John Wiley & Sons Ltd.
PY - 2023/6
Y1 - 2023/6
N2 - Aims: Glomus tumours are neoplasms with perivascular smooth muscle differentiation, which rarely occur in the oesophagus and may behave aggressively in this site based upon prior case reports. This study describes the clinicopathologic features of three oesophageal glomus tumours diagnosed at two large academic institutions between 1984 and 2022. Methods and results: Three cases of oesophageal glomus tumours were identified. Patients included two females and one male, with an age range of 19–65 years. All three tumours behaved in a malignant fashion, with metastases to various sites (lymph nodes, lung, pericardium, pleura, diaphragm, scalp). One patient developed an aorto-oesophageal fistula, resulting in a fatal haemorrhage. Tumours ranged in size from 4.5 to 8.1 cm. Histologically, all tumours had a multinodular, perivascular growth pattern. The neoplasms showed varying degrees of cytologic atypia and spindling, elevated mitotic activity (2–12 mitotic figures per 10 high-power fields), and necrosis was seen in in two cases. All tumours expressed smooth muscle actin by immunohistochemistry, and harboured NOTCH gene alterations (MIR143::NOTCH2 fusion in two cases; NOTCH3 rearrangement and NOTCH1 point mutation in one case). An ATRX splicing mutation in exon 10 was also identified in one case. Conclusion: Oesophageal glomus tumours pose diagnostic challenges, given their rarity at this site, but can be recognised by their characteristic perivascular growth pattern, round central nuclei, and supportive ancillary studies. Given the propensity for aggressive behaviour in this location, we recommend management by a multidisciplinary sarcoma team for optimal outcome.
AB - Aims: Glomus tumours are neoplasms with perivascular smooth muscle differentiation, which rarely occur in the oesophagus and may behave aggressively in this site based upon prior case reports. This study describes the clinicopathologic features of three oesophageal glomus tumours diagnosed at two large academic institutions between 1984 and 2022. Methods and results: Three cases of oesophageal glomus tumours were identified. Patients included two females and one male, with an age range of 19–65 years. All three tumours behaved in a malignant fashion, with metastases to various sites (lymph nodes, lung, pericardium, pleura, diaphragm, scalp). One patient developed an aorto-oesophageal fistula, resulting in a fatal haemorrhage. Tumours ranged in size from 4.5 to 8.1 cm. Histologically, all tumours had a multinodular, perivascular growth pattern. The neoplasms showed varying degrees of cytologic atypia and spindling, elevated mitotic activity (2–12 mitotic figures per 10 high-power fields), and necrosis was seen in in two cases. All tumours expressed smooth muscle actin by immunohistochemistry, and harboured NOTCH gene alterations (MIR143::NOTCH2 fusion in two cases; NOTCH3 rearrangement and NOTCH1 point mutation in one case). An ATRX splicing mutation in exon 10 was also identified in one case. Conclusion: Oesophageal glomus tumours pose diagnostic challenges, given their rarity at this site, but can be recognised by their characteristic perivascular growth pattern, round central nuclei, and supportive ancillary studies. Given the propensity for aggressive behaviour in this location, we recommend management by a multidisciplinary sarcoma team for optimal outcome.
KW - glomus tumour
KW - malignant
KW - NOTCH2
KW - oesophagus
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U2 - 10.1111/his.14888
DO - 10.1111/his.14888
M3 - Article
C2 - 36788021
AN - SCOPUS:85148443993
SN - 0309-0167
VL - 82
SP - 1048
EP - 1055
JO - Histopathology
JF - Histopathology
IS - 7
ER -