Primary and secondary mucosal melanoma of the small intestine - a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014

TY - JOUR

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 - 2018/9

Y1 - 2018/9

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

SN - 0903-465X

VL - 126

SP - 739

EP - 745

JO - APMIS. Supplementum

JF - APMIS. Supplementum

IS - 9

ER -