Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of congenital primary cutaneous rhabdomyosarcoma, solid alveolar type, presenting as a solitary skin lesion on the right upper lip of a 2-week-old infant boy. Rhabdomyosarcoma originates from the embryonic mesenchyme precursor of striated muscle. Histologically it belongs to the group of "small round cell tumors." Its myogenic origin is ascertained by immunohistochemical studies positive for myogenin, muscle-specific actin, desmin, and myoglobin. Malignancy in the neonatal period is uncommon and the clinical management presents considerable challenges. Congenital alveolar rhabdomyosarcoma is a highly malignant tumor with no record of long-term survivors. Treatment options include chemotherapy, excision, and radiotherapy. This infant's tumor was responsive to chemotherapy and surgery and he was free of disease at the 6-month follow-up.
Pediatr Dermatol
PMID:Congenital primary cutaneous rhabdomyosarcoma in a neonate. 1286 57

Infantile myofibromatosis is a rare benign tumor of infancy and childhood that occurs in solitary, multiple, and generalized forms with similar histology but different clinicopathologic and prognostic implications. Even solitary tumors need follow-up, as the type of presentation will be determined over time. It is necessary to differentiate this entity from other more aggressive tumors, especially rhabdomyosarcoma, which is treated by chemotherapy prior to excision. We describe a prematurely born twin girl who had at birth a solitary tumor of the cervicoscapular region, involving the dermis and subcutis. A fine-needle aspiration biopsy (FNAB) specimen obtained soon after her birth suggested a diagnosis of benign neoplasm. The tumor was excised 1 month later, at which time it was significantly enlarged, ulcerated, and also exhibited worrisome histologic features including mitoses and infiltrative growth. It had the characteristic histologic pattern of infantile myofibromatosis, and myofibroblastic features of tumor cells were confirmed immunohistochemically and ultrastructurally. During the follow-up period of 39 months, there was no sign of recurrence or new tumors.
Pediatr Dermatol
PMID:Infantile myofibroma in a prematurely born twin: a case report. 1286 60

We report a 10-month-old girl who, at 4 months, developed a small, reddish, plaquelike lesion on her tongue. This lesion began to enlarge rapidly, resulting in difficulty in swallowing and breathing. On physical examination, there was a large, red, friable, hard in consistency, irregular tumor over the distal portion of her tongue. The histopathology and immunohistochemical findings were consistent with an embryonal rhabdomyosarcoma. The patient was assigned clinical stage I, group III, and began treatment according to the Intergroup Rhabdomyosarcoma Study guidelines, on triple-agent chemotherapy consisting of vincristine, actinomycin D, and cyclophosphamide. She only received four cycles because her parents then refused this treatment. After the tumor size was reduced by chemotherapy, a partial anterior glossectomy was performed. After 30 months of follow-up she has had no recurrences.
Pediatr Dermatol
PMID:Embryonal rhabdomyosarcoma of the tongue. 1591 68

Phacomatosis pigmentokeratotica (PPK) represents a specific "twin nevus" syndrome in which a speckled lentiginous nevus (SLN) is associated with an organoid nevus with sebaceous differentiation. A boy with a large nevus sebaceus on the left face and upper part of the trunk, a giant segmental SLN extending from the abdomen to the feet bilaterally, and right hemihypertrophy developed an embryonal rhabdomyosarcoma of the right abdominal wall at age 6 months. A variety of musculoskeletal, neurologic, and ocular anomalies have been observed in patients with PPK, reflecting the individual manifestations of both SLN and Schimmelpenning syndromes. This report adds hemihypertrophy to the spectrum of extracutaneous manifestations of PPK and, to our knowledge, represents the first observation of a rhabdomyosarcoma arising in contiguity with an SLN in a patient with PPK. The development of a rhabdomyosarcoma in our patient likely reflects both increased propensity for growth (as evidenced by the hemihypertrophy) and the pluripotent nature of neural-crest derived cells within the field defect that underlies an SLN.
J Am Acad Dermatol 2006 Aug
PMID:Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. 1684 17

Soft-tissue sarcomas (STS) include a spectrum of histologically and clinically different tumors. Patients with these tumors are typically relatively young and the course of disease is characterized by early metastasis as well as limited response to chemotherapy. However, a few subtypes, such as small round-cell tumors and rhabdomyosarcoma (other than pleomorphic), are considered chemotherapy sensitive. In addition, reflecting successful translational research of recent years, gastrointestinal stromal tumor and dermatofibrosarcoma protuberans have become model diseases for targeted oncologic therapy. We summarize current treatment options for metastatic STS, including established first-line chemotherapy approaches, mainly with anthracyclines and/or ifosfamide and second-line treatment choices beyond anthracyclines. Until only a few years ago, treatment choices for metastatic STS were easy to review because of the very limited number of active compounds available. However, with the advent of novel therapeutic strategies such as the anti-angiogenic approach and a multitude of novel compounds available both outside and within clinical studies, it has potentially become more difficult to keep track of currently available treatment options for STS and their clinical safety and efficacy. In this practice-oriented article, we therefore review treatment goals in advanced STS and provide an overview of compounds with proven activity in this setting. Anthracyclines with or without ifosfamide are still considered standard of care for most STS subtypes, especially for high-grade tumors. There is no evidence-based recommendation regarding use of second-line treatment options. However, a number of established compounds, including dacarbazine/temozolomide, gemcitabine, taxanes, trofosfamide, DNA topoisomerase I inhibitors, DNA minor groove binders, and bendamustine have shown activity. Recently, trabectedin, a DNA minor groove binder initially isolated from a sea sponge, has proven effective and received European approval for use in treatment-refractory STS. In addition, novel compounds such as bevacizumab, multi-tyrosine kinase inhibitors, mammalian target of rapamycin inhibitors, imatinib, and the thrombospondin agonist ABT 510 represent attractive partners for the above-mentioned cytostatic agents, or may even be effective single agents in the clinically advanced setting. Novel combinations are being evaluated in clinical studies. In order to be successful, it may be necessary to combine not only different compounds but also different targets beyond the proliferation machinery of sarcoma cells such as tumor angiogenesis, the tumor stromal compartment, or tumor cell oncogene products.
Am J Clin Dermatol 2008
PMID:Potential combination chemotherapy approaches for advanced adult-type soft-tissue sarcoma. 1857 72

A 26-year-old woman presented with an indurated subcutaneous tumor on her left cheek. The histology was compatible with alveolar rhabdomyosarcoma, but immunohistochemistry showed that the tumor cells were negative for desmin, alpha-smooth muscle actin and alpha-Sr-1, but were positive for CD56, vimentin and myogenin. The diagnosis of alveolar rhabdomyosarcoma was confirmed by the detection of PAX3-FKHR fusion gene transcripts in the paraffin-embedded tumor tissue. The tumor was unresponsive to chemotherapy with pirarubicin, carboplatin and ifosfamide, and the patient died 9 months after the diagnosis. This adult case of an alveolar rhabdomyosarcoma primarily occurring on the face is very rare, and the detection of PAX3-FKHR fusion gene transcripts was useful for diagnosis of the disease.
J Dermatol 2008 Jul
PMID:Adult cutaneous alveolar rhabdomyosarcoma on the face diagnosed by the expression of PAX3-FKHR gene fusion transcripts. 1870 36

Eccrine squamous syringometaplasia is a histologic finding associated with chemotherapy administration and other cutaneous diseases. Concentration of the chemotherapeutic agents is believed to effect toxic changes in these epithelial structures. We report the first case of vincristine-induced eccrine squamous syringometaplasia in a 12-year-old patient undergoing treatment for rhabdomyosarcoma.
Pediatr Dermatol
PMID:Vincristine-induced eccrine squamous syringometaplasia. 1906 68

Congenital melanocytic naevi, consisting of clusters of naevo-melanocytes, develop in utero. Although many congenital naevi are visible at birth, some may not become evident until later in life. The timing of naevo-melanocyte proliferation, senescence and melanogenesis may all contribute towards determining when a naevus will become clinically manifest on the skin. Besides the fact that congenital melanocytic naevi may be aesthetically displeasing, resulting in a multitude of psychosocial issues, they also increase the risk for developing cutaneous melanoma, leptomeningeal melanoma, neurocutaneous melanocytosis, malformations of the brain and, rarely, other tumours such as rhabdomyosarcoma and liposarcoma. Whereas the risk of developing malignancy in association with congenital naevi is dependent, to some extent, on the size of the naevus, the risk of developing neurocutaneous melanocytosis correlates best with the number of satellite naevi. Management of patients with congenital melanocytic naevi requires individualization, taking into account the naevus size and location, and the risk of developing cutaneous melanoma or neurocutaneous melanocytosis. When contemplating treatment options, it is important to set realistic expectations and to address the possible aesthetic and functional outcomes, while at the same time addressing the risk for developing cutaneous and/or extracutaneous melanoma.
Australas J Dermatol 2009 Nov
PMID:Congenital melanocytic naevi. 1991 64

Agminated Spitz nevus arising on a background of nevus spilus (NS) is a rare condition. We report here a further case in a child that is original because it is induced by chemotherapy. A 3-year-old boy presented 3 months after the onset of a chemotherapy for a vesico-prostatic rhabdomyosarcoma, multiple pigmented papulo-nodules located on the face, neck, chest wall, and the higher back. These lesions have arose on a pre-existent large congenital histologically confirmed nevus spilus extending along the face, neck, the left shoulder and the left chest wall. Histological examination of three excised nodules led to the diagnosis of Spitz nevus. Our patient may have a high risk for melanoma since he has many criteria predisposing to this risk. Some of these criteria are related to NS but we should also take into account the chemotherapy induction and the high number of Spitz nevi.
Pediatr Dermatol
PMID:Agminated Spitz nevi arising on a nevus spilus after chemotherapy. 2065 72

Highly vascularized malignant soft-tissue tumors can clinically and radiologically mimic deep hemangiomas. We present a case of congenital rhabdomyosarcoma of the neck, which was initially identified as congenital hemangioma.
Pediatr Dermatol
PMID:Neonatal rhabdomyosarcoma misdiagnosed as a congenital hemangioma. 2073 98


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