TY  - JOUR
A1  - Gaiser, Timo
A1  - Geissinger, Eva
A1  - Schattenberg, Torsten
A1  - Scharf, Hanns-Peter
A1  - Dürken, Matthias
A1  - Dinter, Dietmar
A1  - Rosenwald, Andreas
A1  - Marx, Alexander
T1  - Case report: a unique pediatric case of a primary CD8 expressing ALK-1 positive anaplastic large cell lymphoma of skeletal muscle
JF  - Diagnostic Pathology
N2  - Primary involvement of skeletal muscle is a very rare event in ALK-1 positive anaplastic large cell lymphoma (ALCL). We describe a case of a 10-year old boy presenting with a three week history of pain and a palpable firm swelling at the dorsal aspect of the left thigh. Histological examination of the lesion revealed a tumoral and diffuse polymorphic infiltration of the muscle by large lymphoid cells. Tumor cells displayed eccentric, lobulated "horse shoe" or "kidney-shape" nuclei. The cells showed immunohistochemical positivity for CD30, ALK-1, CD2, CD3, CD7, CD8, and Perforin. Fluorescence in situ hybridization analysis revealed a characteristic rearrangement of the ALK-1 gene in 2p23 leading to the diagnosis of ALK-1 positive ALCL. Chemotherapy according to the ALCL-99-NHL-BFM protocol was initiated and resulted in a complete remission after two cycles. This case illustrates the unusual presentation of a pediatric ALCL in soft tissue with a good response to chemotherapy.
KW  - pediatric lymphoma
KW  - psoas muscle
KW  - classification
KW  - translocation
KW  - features
KW  - gene
KW  - ALK-1
KW  - anaplastic large cell lymphoma
KW  - CD30
Y1  - 2012
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-135381
VL  - 7
IS  - 38
ER  - 
TY  - JOUR
A1  - Bartelheim, Kerstin
A1  - Nemes, Karolina
A1  - Seeringer, Angela
A1  - Kerl, Kornelius
A1  - Buechner, Jochen
A1  - Boos, Joachim
A1  - Graf, Norbert
A1  - Dürken, Matthias
A1  - Gerss, Joachim
A1  - Hasselblatt, Martin
A1  - Kortmann, Rolf-Dieter
A1  - Teichert von Luettichau, Irene
A1  - Nagel, Inga
A1  - Nygaard, Randi
A1  - Oyen, Florian
A1  - Quiroga, Eduardo
A1  - Schlegel, Paul-Gerhardt
A1  - Schmid, Irene
A1  - Schneppenheim, Reinhard
A1  - Siebert, Reiner
A1  - Solano-Paez, Palma
A1  - Timmermann, Beate
A1  - Warmuth-Metz, Monika
A1  - Frühwald, Michael Christoph
T1  - Improved 6-year overall survival in AT/RT - results of the registry study Rhabdoid 2007
JF  - Cancer Medicine
N2  - Atypical teratoid rhabdoid tumors (AT/RT) are characterized by mutations and subsequent inactivation of SMARCB1 (INI1, hSNF5), a predilection for very young children and an unfavorable outcome. The European Registry for rhabdoid tumors (EU‐RHAB) was established to generate a common European database and to establish a standardized treatment regimen as the basis for phase I/II trials. Thus, genetic analyses, neuropathologic and radiologic diagnoses, and a consensus treatment regimen were prospectively evaluated. From 2005 to 2009, 31 patients with AT/RT from four countries were recruited into the registry study Rhabdoid 2007 and treated with systemic and intraventricular chemotherapy. Eight patients received high‐dose chemotherapy, 23 radiotherapy, and 17 maintenance therapy. Reference evaluations were performed in 64% (genetic analyses, FISH, MLPA, sequencing) up to 97% (neuropathology, INI1 stain). Germ‐line mutations (GLM) were detected in 6/21 patients. Prolonged overall survival was associated with age above 3 years, radiotherapy and achievement of a complete remission. 6‐year overall and event‐free survival rates were 46% (±0.10) and 45% (±0.09), respectively. Serious adverse events and one treatment‐related death due to insufficiency of a ventriculo peritoneal shunt (VP‐shunt) and consecutive herniation were noted. Acquisition of standardized data including reference diagnosis and a standard treatment schedule improved data quality along with a survival benefit. Treatment was feasible with significant but manageable toxicity. Although our analysis is biased due to heterogeneous adherence to therapy, EU‐RHAB provides the best available basis for phase I/II clinical trials.
KW  - AT/RT
KW  - EU‐RHAB Registry
KW  - pediatric brain tumor
KW  - Rhabdoid 2007
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-164799
VL  - 5
IS  - 8
ER  -