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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Neurofibromatosis type 1 &#40;NF1&#41; is a common neurocutaneous syndrome that predisposes patients to the growth of several benign and malignant tumors&#44; including malignant peripheral nerve sheath tumors &#40;MPNSTs&#41; and other soft tissue sarcomas&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Liposarcoma in association with NF1 is very rare and just 10 cases have been reported in the literature&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">A 38-year-old woman with NF1 presented at the hospital&#8217;s emergency department with lower back pain of 3 months&#8217; duration and constitutional symptoms&#46; Physical examination of the abdomen revealed a large&#44; hard mass on the right flank that was painful to the touch&#46; She also had multiple caf&#233;-au-lait spots&#44; generalized freckles&#44; mainly affecting the trunk and with a tendency to cluster in the area of the armpits&#44; and several neurofibromas &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Computed tomography showed a right retroperitoneal mass with a diameter of 11&#160;cm and multiple lung and brain lesions suggestive of metastasis &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; Percutaneous biopsy of the mass showed a proliferation of spindle cells&#44; extensive necrosis and abundant mitoses &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>A and B&#41;&#44; and focal areas of increased cytoplasmic vacuolization consistent with adipocyte differentiation &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>C&#41;&#46; Immunohistochemistry was positive for vimentin and CD99 only and negative for neural markers &#40;S100&#44; GFAP&#41; and muscle markers &#40;desmin and smooth muscle actin&#41;&#46; Fluorescence in situ hybridization revealed <span class="elsevierStyleItalic">MDM2</span> amplification in the long arm of chromosome 12 &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>D&#41;&#44; leading to a definitive diagnosis of high-grade dedifferentiated liposarcoma&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Considering the extent of the disease&#44; it was decided to treat the patient with palliative chemotherapy &#40;adriamycin and olaratumab&#41; and whole-brain radiotherapy&#46; She was readmitted several months later because of clinical deterioration and poor pain control&#44; and died shortly afterwards due to disease progression&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">NF1 is caused by an alteration in the neurofibromin gene on the long arm of chromosome 17&#46; The protein exerts a negative regulatory effect on the RAS&#47;MAPK pathway&#44; and loss of function activates the pathway&#44; favoring the formation of tumors&#44; which are the most serious complication of NF1&#46; MPNST is the most common tumor in this setting&#46; It occurs in 8&#37; to 12&#37; of patients and generally arises in an existing plexiform neurofibroma&#46; Patients with MPNST are also more likely to develop other malignancies&#44; such as pilocytic astrocytomas&#44; gastrointestinal stromal tumors&#44; pheochromocytomas&#44; rhabdomyosarcomas&#44; and juvenile myelomonocytic leukemia&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Liposarcoma&#44; however&#44; is rare&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Liposarcomas are malignant tumors with adipocyte differentiation&#59; they are among the most common soft tissue sarcomas&#46; There are 4 histologic subtypes&#8212;well differentiated&#44; dedifferentiated&#44; myxoid&#44; and pleomorphic&#8212;each with considerable epidemiologic&#44; cytogenetic&#44; molecular&#44; and prognostic differences&#46; Dedifferentiated liposarcomas account for just 15&#37; of all liposarcomas and tend to occur in the retroperitoneal space&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Of the 10 cases of liposarcoma described in NF1 to date&#44; 4 were pleomorphic&#44; 2 were dedifferentiated&#44; 2 were myxoid&#44; and 1 was well differentiated&#46; Histologic subtype was not specified in 1 case&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> This distribution of subtypes contrasts with that seen in the general population&#44; where the most common subtype is well-differentiated liposarcoma &#40;40&#37;&#8211;50&#37; of cases&#41; and the least common&#44; pleomorphic liposarcoma &#40;&#60;&#160;10&#37; of cases&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> The location of the tumors on the peritoneum or extremities&#44; however&#44; is similar to that observed in the general population&#46;<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#44;5</span></a> There have also been reports of liposarcomas involving the omentum&#44;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> the temple&#44;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> and the small bowel mesentery&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Considering the few cases of liposarcoma described in patients with NF1&#44; it is difficult to determine whether they differ from other liposarcomas in terms of epidemiology or prognosis&#46; They may&#44; however&#44; be associated with a worse prognosis as the more aggressive histologic subtypes appear to be more common in this setting&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">It should be noted that 4 of the liposarcomas described in association with NF1 in the literature arose in or adjacent to a pre-existing neurofibroma&#44; giving rise to possible confusion with MPNST with liposarcomatous tissue&#46; An estimated 15&#37; of MPNSTs have heterologous elements&#44; above all cartilage and bone&#44; although they may also contain rhabdomyoblastic&#44; squamous&#44; glandular&#44; and liposarcomatous tissue&#46; Nonetheless&#44; the pleomorphism observed in these 4 cases could be due to the multipotentiality of neurilemmal cells and their ability to undergo metaplasia to fat&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> Loss of the <span class="elsevierStyleItalic">NF-1</span> tumor suppressor gene has been described in pleomorphic liposarcomas&#44;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> and could explain the higher incidence of this more aggressive subtype in patients with NF1&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of Interest</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest&#46;</p></span></span>"
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Case and Research Letters
Retroperitoneal Liposarcoma in a Woman With Neurofibromatosis Type 1
Liposarcoma retroperitoneal en una paciente con una neurofibromatosis tipo 1
L. Bou Boludaa,
Autor para correspondencia
laiabou15@gmail.com

Corresponding author.
, J. Sabater Abada, E. Quecedo Estébaneza, A.I. Jiménez Sánchezb
a Servicio de Dermatología, Hospital Arnau de Vilanova, Valencia, Spain
b Servicio de Anatomía Patológica, Hospital Arnau de Vilanova, Valencia, Spain
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        "titulo" => "Liposarcoma retroperitoneal en una paciente con una neurofibromatosis tipo 1"
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          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Radiologic image&#46; Computed tomography scan of the abdomen showing a large right retroperitoneal mass with a diameter of 11&#160;cm displacing adjacent structures&#46;</p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Neurofibromatosis type 1 &#40;NF1&#41; is a common neurocutaneous syndrome that predisposes patients to the growth of several benign and malignant tumors&#44; including malignant peripheral nerve sheath tumors &#40;MPNSTs&#41; and other soft tissue sarcomas&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Liposarcoma in association with NF1 is very rare and just 10 cases have been reported in the literature&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">A 38-year-old woman with NF1 presented at the hospital&#8217;s emergency department with lower back pain of 3 months&#8217; duration and constitutional symptoms&#46; Physical examination of the abdomen revealed a large&#44; hard mass on the right flank that was painful to the touch&#46; She also had multiple caf&#233;-au-lait spots&#44; generalized freckles&#44; mainly affecting the trunk and with a tendency to cluster in the area of the armpits&#44; and several neurofibromas &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Computed tomography showed a right retroperitoneal mass with a diameter of 11&#160;cm and multiple lung and brain lesions suggestive of metastasis &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; Percutaneous biopsy of the mass showed a proliferation of spindle cells&#44; extensive necrosis and abundant mitoses &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>A and B&#41;&#44; and focal areas of increased cytoplasmic vacuolization consistent with adipocyte differentiation &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>C&#41;&#46; Immunohistochemistry was positive for vimentin and CD99 only and negative for neural markers &#40;S100&#44; GFAP&#41; and muscle markers &#40;desmin and smooth muscle actin&#41;&#46; Fluorescence in situ hybridization revealed <span class="elsevierStyleItalic">MDM2</span> amplification in the long arm of chromosome 12 &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>D&#41;&#44; leading to a definitive diagnosis of high-grade dedifferentiated liposarcoma&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Considering the extent of the disease&#44; it was decided to treat the patient with palliative chemotherapy &#40;adriamycin and olaratumab&#41; and whole-brain radiotherapy&#46; She was readmitted several months later because of clinical deterioration and poor pain control&#44; and died shortly afterwards due to disease progression&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">NF1 is caused by an alteration in the neurofibromin gene on the long arm of chromosome 17&#46; The protein exerts a negative regulatory effect on the RAS&#47;MAPK pathway&#44; and loss of function activates the pathway&#44; favoring the formation of tumors&#44; which are the most serious complication of NF1&#46; MPNST is the most common tumor in this setting&#46; It occurs in 8&#37; to 12&#37; of patients and generally arises in an existing plexiform neurofibroma&#46; Patients with MPNST are also more likely to develop other malignancies&#44; such as pilocytic astrocytomas&#44; gastrointestinal stromal tumors&#44; pheochromocytomas&#44; rhabdomyosarcomas&#44; and juvenile myelomonocytic leukemia&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Liposarcoma&#44; however&#44; is rare&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Liposarcomas are malignant tumors with adipocyte differentiation&#59; they are among the most common soft tissue sarcomas&#46; There are 4 histologic subtypes&#8212;well differentiated&#44; dedifferentiated&#44; myxoid&#44; and pleomorphic&#8212;each with considerable epidemiologic&#44; cytogenetic&#44; molecular&#44; and prognostic differences&#46; Dedifferentiated liposarcomas account for just 15&#37; of all liposarcomas and tend to occur in the retroperitoneal space&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Of the 10 cases of liposarcoma described in NF1 to date&#44; 4 were pleomorphic&#44; 2 were dedifferentiated&#44; 2 were myxoid&#44; and 1 was well differentiated&#46; Histologic subtype was not specified in 1 case&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> This distribution of subtypes contrasts with that seen in the general population&#44; where the most common subtype is well-differentiated liposarcoma &#40;40&#37;&#8211;50&#37; of cases&#41; and the least common&#44; pleomorphic liposarcoma &#40;&#60;&#160;10&#37; of cases&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> The location of the tumors on the peritoneum or extremities&#44; however&#44; is similar to that observed in the general population&#46;<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#44;5</span></a> There have also been reports of liposarcomas involving the omentum&#44;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> the temple&#44;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> and the small bowel mesentery&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Considering the few cases of liposarcoma described in patients with NF1&#44; it is difficult to determine whether they differ from other liposarcomas in terms of epidemiology or prognosis&#46; They may&#44; however&#44; be associated with a worse prognosis as the more aggressive histologic subtypes appear to be more common in this setting&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">It should be noted that 4 of the liposarcomas described in association with NF1 in the literature arose in or adjacent to a pre-existing neurofibroma&#44; giving rise to possible confusion with MPNST with liposarcomatous tissue&#46; An estimated 15&#37; of MPNSTs have heterologous elements&#44; above all cartilage and bone&#44; although they may also contain rhabdomyoblastic&#44; squamous&#44; glandular&#44; and liposarcomatous tissue&#46; Nonetheless&#44; the pleomorphism observed in these 4 cases could be due to the multipotentiality of neurilemmal cells and their ability to undergo metaplasia to fat&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> Loss of the <span class="elsevierStyleItalic">NF-1</span> tumor suppressor gene has been described in pleomorphic liposarcomas&#44;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> and could explain the higher incidence of this more aggressive subtype in patients with NF1&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of Interest</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest&#46;</p></span></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Bou Boluda L&#44; Sabater Abad J&#44; Quecedo Est&#233;banez E&#44; Jim&#233;nez S&#225;nchez&#46; Retroperitoneal Liposarcoma in a Woman With Neurofibromatosis Type 1&#46; Actas Dermosifiliogr&#46; 2021&#59;112&#58;856&#8211;858&#46;</p>"
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