Alveolar rhabdomyosarcoma arising in a giant congenital melanocytic nevus in an adult – case report with review of literature

Chikhalkar, Siddhi; Gutte, Rameshwar; Holmukhe, Sarika; Khopkar, Uday; Desai, Saral; Gupta, Sudeep

doi:10.1111/j.1365-4632.2011.05448.x

Cited by 9 publications

(11 citation statements)

References 7 publications

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“…Similar to this case, one patient's lesion was pedunculated , and two cases showed areas of alternating hypercellular and hypocellular areas . Three patients died, one secondary to a staphylococcal pneumonia , one 13 months after initial surgical excision because the patient's parents refused postoperative chemotherapy and radiation , and one 1 month after diagnosis with widespread metastatic disease after refusing palliative chemotherapy . This patient had alveolar rhabdomyosarcoma, which is associated with a poorer prognosis than the embryonal subtype .…”

Section: Discussionsupporting

confidence: 55%

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Rhabdomyosarcoma Arising in a Giant Congenital Melanocytic Nevus

Christman

Kerner

Cheng

et al. 2014

Pediatric Dermatology

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A number of lesions have been documented to arise within congenital melanocytic nevi (CMNs). Although the most frequent malignancy arising within a CMN is melanoma, the association between rhabdomyosarcoma and CMN has rarely been documented. We present a case arising in a 4-month-old girl with a giant CMN. She presented for evaluation of a pedunculated lesion at the superior gluteal crease that had been present since birth and exhibited rapid growth. Biopsy of the lesion revealed two distinct components: an expansile proliferation of pleomorphic cells with varying degrees of cellularity and a proliferation of banal-appearing melanocytic nevic cells. The cells of the expansile proliferation displayed a wide range of morphologic features, including nests of round cells, spindle-shaped cells, and more differentiated rhabdomyoblasts within a myxoid, highly vascularized stroma. Cross-striations, a marker of skeletal muscle differentiation, were present. These tumor cells were strongly immunoreactive with desmin, myo-D1, and myogenin. Fluorescence in situ hybridization analysis with PAX3/7-FKHR probes was negative. A diagnosis of embryonal rhabdomyosarcoma in association with CMN was made. Initial excision revealed tumor at the margins, and the patient underwent reexcision with subsequent chemotherapy with vincristine, actinomycin D, and cyclophosphamide. She was disease-free at the 6-year follow-up. It has been postulated that the combination of melanocytic and rhabdomyoblastic cells within the same lesion may imply derivation from a common pluripotent stem cell or neural crest cell. Clinicians following patients with giant CMN should consider rhabdomyosarcoma in the differential diagnosis of lesions arising within the nevus.

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Section: Discussionsupporting

confidence: 55%

“…There have been only six previously documented cases of rhabdomyosarcoma arising from CMN: four embryonal rhabdomyosarcomas , one mixed liposarcoma and rhabdomyosarcoma , and one alveolar rhabdomyosarcoma . Only one case was associated with melanosis of the leptomeninges and central nervous system .…”

Section: Discussionmentioning

confidence: 96%

Rhabdomyosarcoma Arising in a Giant Congenital Melanocytic Nevus

Christman

Kerner

Cheng

et al. 2014

Pediatric Dermatology

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“…Accordingly, 20-40% of primary tumour masses are found in organs colonized by NCC, such as the orbit, bladder, para-meningeal, head and neck areas ( [41,46,87], S1A Fig). Moreover, several clinical studies report the presence of FP-RMS primary growths in a giant naevus and spinal cord, that are unambiguously neural tube derived [36,37]. This idea is further supported by the observation that the regulatory regions in the vicinity of the PAX3 locus which are not impacted by the t(2;13)(q35;q14) translocations remain active in the neural tube after the translocation [88].…”

Section: Plos Geneticsmentioning

confidence: 77%

The PAX-FOXO1s trigger fast trans-differentiation of chick embryonic neural cells into alveolar rhabdomyosarcoma with tissue invasive properties limited by S phase entry inhibition

et al. 2020

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The chromosome translocations generating PAX3-FOXO1 and PAX7-FOXO1 chimeric proteins are the primary hallmarks of the paediatric fusion-positive alveolar subtype of Rhabdomyosarcoma (FP-RMS). Despite the ability of these transcription factors to remodel chromatin landscapes and promote the expression of tumour driver genes, they only inefficiently promote malignant transformation in vivo. The reason for this is unclear. To address this, we developed an in ovo model to follow the response of spinal cord progenitors to PAX-FOXO1s. Our data demonstrate that PAX-FOXO1s, but not wild-type PAX3 or PAX7, trigger the trans-differentiation of neural cells into FP-RMS-like cells with myogenic characteristics. In parallel, PAX-FOXO1s remodel the neural pseudo-stratified epithelium into a cohesive mesenchyme capable of tissue invasion. Surprisingly, expression of PAX-FOXO1s, similar to wild-type PAX3/7, reduce the levels of CDK-CYCLIN activity and increase the fraction of cells in G1. Introduction of CYCLIN D1 or MYCN overcomes this PAX-FOXO1-mediated cell cycle inhibition and promotes tumour growth. Together, our findings reveal a mechanism that can explain the apparent limited oncogenicity of PAX-FOXO1 fusion transcription factors. They are also consistent with certain clinical reports indicative of a neural origin of FP-RMS.

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“…Giant congenital melanocytic naevi (GCN) are defined as congenital naevi measuring more than 20 cm in the greatest dimension [1]. These rare lesions affect between 1 in 200,000 and 1 in 500,000 live-born infants [2]. GCN may be associated with a variety of syndromes, including Carney complex, epidermal naevus syndrome, neurofibromatosis type 1, premature ageing syndrome, vitiligo, and neurocutaneous melanosis [1].…”

Section: Introductionmentioning

confidence: 99%

Rhabdomyosarcoma Arising in a Giant Congenital Melanocytic Naevus: Case Report and Literature Review

2019

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Giant congenital melanocytic naevi (GCN) are rare, disfiguring lesions which carry a significant risk of malignant transformation. Melanoma is the most common malignancy documented in association with these lesions. Although exceedingly rare, other malignant neoplasms, including mesenchymal tumours such as rhabdomyosarcoma (RMS), may complicate GCN. This report documents a fatal embryonal RMS arising in a GCN on the distal left lower limb of a 4-month-old female infant, who had ipsilateral inguinal lymph node metastases at the time of presentation. To date there have been only 7 prior reports in the English literature of RMS complicating GCN. Differential diagnoses include small cell melanoma, rhabdoid melanoma, and melanoma with divergent RMS differentiation. A distinction between the latter and de novo RMS arising in GCN may have potential prognostic and therapeutic implications.

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Alveolar rhabdomyosarcoma arising in a giant congenital melanocytic nevus in an adult – case report with review of literature

Cited by 9 publications

References 7 publications

Rhabdomyosarcoma Arising in a Giant Congenital Melanocytic Nevus

Rhabdomyosarcoma Arising in a Giant Congenital Melanocytic Nevus

The PAX-FOXO1s trigger fast trans-differentiation of chick embryonic neural cells into alveolar rhabdomyosarcoma with tissue invasive properties limited by S phase entry inhibition

Rhabdomyosarcoma Arising in a Giant Congenital Melanocytic Naevus: Case Report and Literature Review

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