Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.
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Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions. / Kluwe, Lan; Nguyen, Rosa; Vogt, Julia; Bengesser, Kathrin; Mussotter, Tanja; Friedrich, Reinhard; Jett, Kimberly; Kehrer-Sawatzki, Hildegard; Mautner, Viktor Felix.
in: GENE CHROMOSOME CANC, Jahrgang 51, Nr. 5, 5, 2012, S. 447-451.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.
AU - Kluwe, Lan
AU - Nguyen, Rosa
AU - Vogt, Julia
AU - Bengesser, Kathrin
AU - Mussotter, Tanja
AU - Friedrich, Reinhard
AU - Jett, Kimberly
AU - Kehrer-Sawatzki, Hildegard
AU - Mautner, Viktor Felix
PY - 2012
Y1 - 2012
N2 - Neurofibromatosis Type 1 (NF1) is a frequent tumor suppressor gene disorder characterized by multiple benign tumors and high risk of malignancy. Internal tumor burden is a major disease-associated manifestation and can be most adequately assessed by magnetic resonance imaging of the whole body. Approximately 5% of NF1 patients have constitutional large NF1-deletions that are generally associated with more severe clinical manifestations. Here, we investigated whether these deletion patients also have more and/or larger internal tumors by assessing internal tumors and their total volume (exclusive of cutaneous and subcutaneous) in 38 NF1 deletion patients (including eight mosaic cases) and 114 age- and gender-matched NF1 patients without deletions. The incidence of internal tumors was significantly lower in mosaic deletion patients (1/8 = 13%) but did not differ between the 30 nonmosaic deletion patients and the 90 age- and gender-matched NF1 patients without large deletions used as controls. Neither the number nor the total volume of tumors per patient differed significantly between the latter two groups. However, extremely high tumor burden (>3,000 ml) was significantly more frequent among nonmosaic NF1 deletion patients than among NF1 patients without large deletions (13% vs. 1%, P = 0.014). Thus, as a group, patients with NF1 deletions do not exhibit a significantly higher internal tumor burden than NF1 patients without such deletions. However, deletion patients can frequently have extremely large internal tumors and thus demand special attention.
AB - Neurofibromatosis Type 1 (NF1) is a frequent tumor suppressor gene disorder characterized by multiple benign tumors and high risk of malignancy. Internal tumor burden is a major disease-associated manifestation and can be most adequately assessed by magnetic resonance imaging of the whole body. Approximately 5% of NF1 patients have constitutional large NF1-deletions that are generally associated with more severe clinical manifestations. Here, we investigated whether these deletion patients also have more and/or larger internal tumors by assessing internal tumors and their total volume (exclusive of cutaneous and subcutaneous) in 38 NF1 deletion patients (including eight mosaic cases) and 114 age- and gender-matched NF1 patients without deletions. The incidence of internal tumors was significantly lower in mosaic deletion patients (1/8 = 13%) but did not differ between the 30 nonmosaic deletion patients and the 90 age- and gender-matched NF1 patients without large deletions used as controls. Neither the number nor the total volume of tumors per patient differed significantly between the latter two groups. However, extremely high tumor burden (>3,000 ml) was significantly more frequent among nonmosaic NF1 deletion patients than among NF1 patients without large deletions (13% vs. 1%, P = 0.014). Thus, as a group, patients with NF1 deletions do not exhibit a significantly higher internal tumor burden than NF1 patients without such deletions. However, deletion patients can frequently have extremely large internal tumors and thus demand special attention.
KW - Adult
KW - Humans
KW - Adolescent
KW - Young Adult
KW - Gene Deletion
KW - Genes, Neurofibromatosis 1
KW - Neurofibromatosis 1/genetics/pathology
KW - Tumor Burden/genetics
KW - Adult
KW - Humans
KW - Adolescent
KW - Young Adult
KW - Gene Deletion
KW - Genes, Neurofibromatosis 1
KW - Neurofibromatosis 1/genetics/pathology
KW - Tumor Burden/genetics
M3 - SCORING: Journal article
VL - 51
SP - 447
EP - 451
JO - GENE CHROMOSOME CANC
JF - GENE CHROMOSOME CANC
SN - 1045-2257
IS - 5
M1 - 5
ER -
