Head and neck pleomorphic myxoid liposarcoma in a child with Li-Fraumeni syndrome

Francom, Christian R.; Leoniak, Steven M.; Lovell, Mark A.; Herrmann, Brian W.

doi:10.1016/j.ijporl.2019.05.016

Cited by 22 publications

(22 citation statements)

References 21 publications

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“…Interestingly, it would seem that myxoid pleomorphic liposarcomas may also occur in older patients than has been previously appreciated, with the patients in the present series having a median age of 35 years, including three patients of >50 years of age. Previous data on the molecular genetic features of myxoid pleomorphic liposarcoma has been limited to small series and isolated case reports [1,[4][5][6][29][30][31]. As noted, DDIT3 rearrangements have not been identified in these lesions, arguing against a link to conventional myxoid liposarcoma.…”

Section: Discussionmentioning

confidence: 99%

Myxoid pleomorphic liposarcoma—a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma

et al. 2021

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Myxoid pleomorphic liposarcoma is a recently defined subtype of liposarcoma, which preferentially involves the mediastinum of young patients and shows mixed histological features of conventional myxoid liposarcoma and pleomorphic liposarcoma. While myxoid pleomorphic liposarcoma is known to lack the EWSR1/FUS-DDIT3 fusions characteristic of the former, additional genetic data are limited. To further understand this tumor type, we extensively examined a series of myxoid pleomorphic liposarcomas by fluorescence in situ hybridization (FISH), shallow whole genome sequencing (sWGS) and genome-wide DNA methylation profiling. The 12 tumors occurred in 6 females and 6 males, ranging from 17 to 58 years of age (mean 33 years, median 35 years), and were located in the mediastinum (n = 5), back, neck, cheek and leg, including thigh. Histologically, all cases consisted of relatively, bland, abundantly myxoid areas with a prominent capillary vasculature, admixed with much more cellular and less myxoid foci containing markedly pleomorphic spindled cells, numerous pleomorphic lipoblasts and elevated mitotic activity. Using sWGS, myxoid pleomorphic liposarcomas were found to have complex chromosomal alterations, including recurrent large chromosomal gains involving chromosomes 1, 6-8, 18-21 and losses involving chromosomes 13, 16 and 17. Losses in chromosome 13, in particular loss in 13q14 (including RB1, RCTB2, DLEU1, and ITM2B genes), were observed in 4 out of 8 cases analyzed. Additional FISH analyses confirmed the presence of a monoallelic RB1 deletion in 8/12 cases. Moreover, nuclear Rb expression was deficient in all studied cases. None showed DDIT3 gene rearrangement or MDM2 gene amplification. Using genome-wide DNA methylation profiling, myxoid pleomorphic liposarcomas and conventional pleomorphic liposarcomas formed a common methylation cluster, which segregated from conventional myxoid liposarcomas. While the morphologic, genetic and epigenetic characteristics of myxoid pleomorphic liposarcoma suggest a link with conventional pleomorphic liposarcoma, its distinctive clinical features support continued separate classification for the time being.

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Section: Discussionmentioning

confidence: 99%

Myxoid pleomorphic liposarcoma—a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma

et al. 2021

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“…Treatments via radiation and chemotherapy may create further genomic instability that could promote further tumorigenesis, as 40% of second neoplasms are identified within the radiation field used to treat the first malignancy. 24,32,33 As evidenced by this study, all patients with second primary tumors had previously received radiation therapy, and those developing these within the head and neck did so in close proximity to prior radiation ports. Therefore, additional surveillance considerations may need to be considered specifically in children with LFS for risks for these second neoplasms, with special attention to the head and neck following intracranial radiation therapy.…”

Section: Discussionmentioning

confidence: 65%

“…This retrospective study is an expanded review building from a previously reported index case and includes pediatric patients treated at Children's Hospital Colorado between January 1, 1999 and December 31, 2018. 24 Medical records of children treated for neoplastic disease involving head and neck excluding the brain and orbit were crossreferenced with those diagnosed with genetically proven LFS using a Health Insurance Portability and Accountability Act (HIPAA) compliant database. Parameters reviewed included patient demographics, clinical characteristics, pathologic and genetic evaluations, and related neuroimaging studies.…”

Section: Methodsmentioning

confidence: 99%

Pediatric Head and Neck Tumors Associated with Li-Fraumeni Syndrome

Rodriguez

Schneider

Suttman

et al. 2021

Ann Otol Rhinol Laryngol

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Introduction: Cancer predisposition syndromes are germline pathogenic variants in genes that greatly raise the risk of developing neoplastic diseases. One of the most well-known is Li-Fraumeni syndrome (LFS), which is due to pathogenic variants in the TP53 gene. Children with LFS have higher risks for multiple malignancies before adulthood, often with rare and aggressive subtypes. Objective: To examine head and neck manifestations of LFS in children treated at a tertiary children’s hospital over a 20-year period. Methods: A retrospective review of LFS children with neoplastic disease presenting in traditional Otolaryngologic head and neck subsites from 2000 to 2019, with patient charts reviewed for relevant clinical, imaging, and operative data. Results: Of the 40 LFS patients initially identified, 27 neoplastic tumors were identified in 20 children within this cohort (20 primary, 7 second primary). Head and neck subsites aside from the brain or orbit were involved in 22% (6/27) of these tumors, representing 20% (4/20) of primary tumors and 29% (2/7) of second primary tumors. Both second primaries within the head and neck were within the radiation fields of the first primary tumor. The mean ages at primary and second primary diagnosis were 4.6 years (SD 3.5) and 12 years (SD 1.4), respectively. The male/female ratio was 1:6 among all patients with head and neck tumors. All 6 head and neck tumors were sarcomas. Rhabdomyosarcoma ( N = 3, 50%) was the most common pathology, and the other 3 demonstrated rare tumor pathological subtypes (synovial cell sarcoma, pleomorphic myxoid liposarcoma, mandibular osteosarcoma). The neck was the most common subsite (75%) within this group for primary tumor presentation. Conclusion: This study identifies a high potential for head and neck involvement in children with LFS, which has not been previously described in the literature. Otolaryngological care should be included in a multidisciplinary care team surveilling these patients.

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“…11 Two recent cases of PML in patients with LFS have been reported, a 15-year-old female with right perineal mass and an 11-year-old male patient with face mass. 6,12 Our case is the first report of PML in an adult patient with LFS. Considering the rarity of PML, diagnosis of this neoplasm in 3 patients with LFS raises the possibility of association of this uncommon sarcoma with genetic cancer predisposition conditions.…”

Section: Discussionmentioning

confidence: 69%

Recurrent Pleomorphic Myxoid Liposarcoma in a Patient With Li-Fraumeni Syndrome

2019

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Pleomorphic myxoid liposarcoma is an extremely rare, clinically aggressive subtype of liposarcoma that has been primarily reported in young patients. In this article, we report a case of a pleomorphic myxoid liposarcoma that presented as a second primary neoplasm in a 34-year-old man with history of primary mediastinal large B-cell lymphoma. During the clinical workup, the patient was diagnosed with a germline TP53 gene mutation and Li-Fraumeni syndrome. The tumor, a 2.9 × 2.3 × 2.0 cm well-demarcated and solid mass, was centered in the anterior chest wall soft tissue. Histologically, most of the tumor displayed abundantly myxoid stroma, low cellularity of mostly bland spindle cells, delicate branching capillaries, and lipoblasts; these areas transitioned to small areas whose features were reminiscent of pleomorphic liposarcoma. As assessed by fluorescence in situ hybridization, the tumor showed no DDIT3 ( CHOP) (12q13) rearrangements or MDM2 gene amplification. Clinically, the tumor progressed with multiple recurrences and metastasis to the humerus bone. To our knowledge, this is the first case of pleomorphic myxoid liposarcoma diagnosed in an adult with Li-Fraumeni syndrome.

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Head and neck pleomorphic myxoid liposarcoma in a child with Li-Fraumeni syndrome

Cited by 22 publications

References 21 publications

Myxoid pleomorphic liposarcoma—a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma

Myxoid pleomorphic liposarcoma—a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma

Pediatric Head and Neck Tumors Associated with Li-Fraumeni Syndrome

Recurrent Pleomorphic Myxoid Liposarcoma in a Patient With Li-Fraumeni Syndrome

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