Primary and secondary mucosal melanoma of the small intestine - a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014
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Primary and secondary mucosal melanoma of the small intestine - a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014. / Tingsgaard, Jakob Koefoed; Henriksen, Amalie; Mikkelsen, Lauge Hjorth; Behrendt, Nille; Melchior, Linea Cecilie; Svendsen, Lars Bo; Heegaard, Steffen.
In: APMIS : acta pathologica, microbiologica, et immunologica Scandinavica, Vol. 126, No. 9, 2018, p. 739-745.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - Primary and secondary mucosal melanoma of the small intestine - a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014
AU - Tingsgaard, Jakob Koefoed
AU - Henriksen, Amalie
AU - Mikkelsen, Lauge Hjorth
AU - Behrendt, Nille
AU - Melchior, Linea Cecilie
AU - Svendsen, Lars Bo
AU - Heegaard, Steffen
N1 - © 2018 APMIS. Published by John Wiley & Sons Ltd.
PY - 2018
Y1 - 2018
N2 - The aim of this study was to describe the epidemiology, symptomatology, pathology, genetics, and treatment of primary and metastatic small intestine melanoma in a national Danish cohort. All Danish patients diagnosed with small intestinal melanoma during the period 1980-2014 were included. For each patient, clinical data along with available pathology report and tissue was registered. Targeted next-generation sequencing (NGS) of known hotspots in 50 oncogenic genes was performed. Twenty patients with small intestinal melanoma were retrieved. Eight of these were primary melanomas. The median age was 66 years for primary melanoma patients and 58 years for secondary melanoma patients. The male/female ratio (M/F) was 3:1 for primary melanoma and 1:1 for secondary melanoma. The median time of survival was 3.5 months and 9 months for primary and secondary melanoma patients, respectively. NGS of primary tumours showed polymorphisms in the HRAS, PI3KCA, and JAK3 genes. Primary mucosal melanoma of the small intestines is a very rare disease, with an incidence of 0.04 cases/million/year in Denmark. Patients aged 59-70 years with abdominal symptoms should make the clinician consider a small bowel melanoma as a differential diagnosis. The prognosis ranged from less than a month to 183.6 months.
AB - The aim of this study was to describe the epidemiology, symptomatology, pathology, genetics, and treatment of primary and metastatic small intestine melanoma in a national Danish cohort. All Danish patients diagnosed with small intestinal melanoma during the period 1980-2014 were included. For each patient, clinical data along with available pathology report and tissue was registered. Targeted next-generation sequencing (NGS) of known hotspots in 50 oncogenic genes was performed. Twenty patients with small intestinal melanoma were retrieved. Eight of these were primary melanomas. The median age was 66 years for primary melanoma patients and 58 years for secondary melanoma patients. The male/female ratio (M/F) was 3:1 for primary melanoma and 1:1 for secondary melanoma. The median time of survival was 3.5 months and 9 months for primary and secondary melanoma patients, respectively. NGS of primary tumours showed polymorphisms in the HRAS, PI3KCA, and JAK3 genes. Primary mucosal melanoma of the small intestines is a very rare disease, with an incidence of 0.04 cases/million/year in Denmark. Patients aged 59-70 years with abdominal symptoms should make the clinician consider a small bowel melanoma as a differential diagnosis. The prognosis ranged from less than a month to 183.6 months.
KW - Adult
KW - Aged
KW - Aged, 80 and over
KW - Class I Phosphatidylinositol 3-Kinases/genetics
KW - Cohort Studies
KW - Female
KW - High-Throughput Nucleotide Sequencing
KW - Humans
KW - Intestinal Neoplasms/genetics
KW - Intestine, Small/pathology
KW - Male
KW - Melanoma/genetics
KW - Middle Aged
KW - Proto-Oncogene Proteins B-raf/genetics
KW - Time Factors
U2 - 10.1111/apm.12883
DO - 10.1111/apm.12883
M3 - Journal article
C2 - 30160023
VL - 126
SP - 739
EP - 745
JO - A P M I S. Acta Pathologica, Microbiologica et Immunologica Scandinavica
JF - A P M I S. Acta Pathologica, Microbiologica et Immunologica Scandinavica
SN - 0903-4641
IS - 9
ER -
ID: 219533003