Trisomy 18 is a consistent cytogenetic feature in pilomatricoma

Agoston, Agoston T.; Liang, Cher‐Wei; Richkind, Kathleen E.; Fletcher, Jonathan A.; Vargas, Sara O.

doi:10.1038/modpathol.2010.99

Cited by 22 publications

(16 citation statements)

References 7 publications

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“…Trisomy 18 has been found mainly in hematopoietic malignancies such as acute and chronic lymphocytic leukemia, lymphomas, and multiple myeloma [Van Dyke, ]. It has also been observed in non‐hematopoietic tumors such as breast cancer in adults [Bullerdiek et al, ], the benign cutaneous tumor pilomatricoma in children [Agoston et al, ], and other tumors. As children with Edwards syndrome have a short life expectancy, it is not possible to evaluate whether constitutional trisomy 18 increases the risk of adult tumors.…”

Section: Discussionmentioning

confidence: 99%

A tumor profile in Edwards syndrome (trisomy 18)

Satgé¹,

Nishi²,

Sirvent³

et al. 2016

American J of Med Genetics Pt C

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Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed a systematic review of the literature. This review reveals a tumor profile differing from those of Down (trisomy 21) and Patau (trisomy 13) syndromes. The literature covers 45 malignancies: 29 were liver cancers, mainly hepatoblastomas found in Japanese females; 13 were kidney tumors, predominantly nephroblastomas; 1 was neuroblastoma; 1 was a Hodgkin disease; and 1 was acute myeloid leukemia in an infant with both trisomy 18 and type 1 neurofibromatosis. No instances of the most frequent malignancies of early life-cerebral tumors, germ cell tumors, or leukemia--are reported in children with pure trisomy 18. Tumor occurrence does not appear to correlate with body weight, tissue growth, or cancer genes mapping to chromosome 18. Importantly, the most recent clinical histories report successful treatment; this raises ethical concerns about cancer treatment in infants with Edwards syndrome. In conclusion, knowledge of the Edwards' syndrome tumor profile will enable better clinical surveillance in at-risk organs (i.e., liver, kidney). This knowledge also provides clues to understanding oncogenesis, including the probably reduced frequency of some neoplasms in infants and children with this genetic condition. © 2016 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 99%

A tumor profile in Edwards syndrome (trisomy 18)

Satgé¹,

Nishi²,

Sirvent³

et al. 2016

American J of Med Genetics Pt C

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“… 47 More recently, chromosome 18 trisomy has been identified in pilomatricoma cells, a genetic anomaly that could additionally be pathogenically relevant via the hyperfunction of the anti-apoptotic gene Bcl-2, that resides in this chromosome. 48 …”

Section: Classificationmentioning

confidence: 99%

Benign follicular tumors

Tellechea

Cardoso

Reis

et al. 2015

An. Bras. Dermatol.

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Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. In this article, the authors present the microscopic structure of the normal hair follicle as a basis to understand the type and level of differentiation of the various follicular tumors. The main clinicopathological features and differential diagnosis of benign follicular tumors are then discussed, including dilated pore of Winer, pilar sheath acanthoma, trichoadenoma, trichilemmoma, infundibuloma, proliferating trichilemmal cyst/tumor, trichoblastoma and its variants, pilomatricoma, trichodiscoma/fibrofolliculoma, neurofollicular hamartoma and trichofolliculoma. In addition, the main syndromes presenting with multiple follicular tumors are also discussed, namely Cowden, Birt-Hogg-Dubé, Rombo and Bazex-Dupré-Christol syndromes, as well as multiple tumors of follicular infundibulum (infundibulomatosis) and multiple trichoepitheliomas. Although the diagnosis of follicular tumors relies on histological examination, we highlight the importance of their knowledge for the clinician, especially when in presence of patients with multiple lesions that may be the cutaneous marker of a cancer-prone syndrome. The dermatologist is therefore in a privileged position to recognize these lesions, which is extremely important to provide further propedeutic, appropriate referral and genetic counseling for these patients.

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“…[7] A recent study suggests that trisomy-18 is a consistent feature in pilomatricoma, suggesting that genes carried on this chromosome such as that for the antiapoptotic oncoprotein BCL2 may have a role in the growth and differentiation of this benign self-limited tumor. [8]…”

Section: Discussionmentioning

confidence: 99%

Pilomatricoma: Forget me not

Garg¹,

Arora²,

Gupta³

et al. 2011

Indian Dermatol Online J

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Pilomatricoma is a benign skin neoplasia, which is not commonly encountered in general practice. The diagnosis is often made only after histopathology. The present case report is of a 30-year-old woman who presented with swelling in neck, which was diagnosed as pilomatricoma only after excision. The idea of reporting this case is that pilomatricoma is not rare in occurrence but rarely diagnosed because of lack of confirmation of excised swelling and it is imperative that it should be kept in the differential diagnoses of all superficial skin tumors by dermatologists and surgeons.

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Trisomy 18 is a consistent cytogenetic feature in pilomatricoma

Cited by 22 publications

References 7 publications

A tumor profile in Edwards syndrome (trisomy 18)

A tumor profile in Edwards syndrome (trisomy 18)

Benign follicular tumors

Pilomatricoma: Forget me not

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