Cancer of the Ovary
Jennifer L. Kelsey, Nancy G. Hildreth in Breast and Gynecologic Cancer Epidemiology, 2019
It has been established that three rare genetic syndromes, the Peutz-Jeghers syndrome, the basal cell nevus syndrome, and gonadal dysgenesis, predispose to ovarian tumors. The Peutz-Jeghers syndrome, which is characterized by mucotaneous pigmentation and gastrointestinal polyposis, is associated particularly with tumors of the granulosa cell type.105–108 The ovarian tumors often occur at a relatively young age. The reason for an increased incidence of ovarian tumors among women with this syndrome is unknown, but Christian106 has hypothesized that a common embryological defect may predispose to ovarian tumors and the Peutz-Jeghers syndrome. The basal cell nevus syndrome, a rare syndrome characterized by multiple basal cell tumors of the skin, cysts of the jaw, abnormalities of the ribs and metacarpal bones, and several endocrine abnormalities, is associated with benign ovarian fibromas.109,110 Individuals with dysgenetic gonads (phenotypic females who usually have a karyotype of 46 XY or 45 XO/ 46 XY) are prone to have a distinctive type of benign ovarian tumor called a gonado-blastoma.111–118 First described by Scully,119 these tumors are composed of germ cells and immature Sertoli or granulosa cells and have been found to occur almost exclusively in individuals with dysgenetic gonads. These tumors occur less often among individuals with Turner’s syndrome than among those with pure gonadal dysgenesis.111,118
Pathogenesis of Odontogenic Cysts
Roger M. Browne in Investigative Pathology of the Odontogenic Cysts, 2019
If the initiation of cyst formation is genetically determined, it is not known whether the abnormality is acquired or hereditarily transmitted and whether it affects the epithelium or the cells of the cyst capsule. A heredity transmission is suggested by the evidence previously quoted of a peak incidence in the second and third decades and an association with the basal cell nevus syndrome. However, odontogenic keratocysts are diagnosed in patients up to the ninth decade of life and several studies have demonstrated a second peak of incidence in the fifth or sixth decade,13,17,23,65–67 which suggests an acquired abnormality may also play a role. This bimodal age distribution may indeed indicate two distinct groups of patients who suffer from this condition. The views have been expressed that odontogenic keratocysts are either hamartomas1 or benign cystic neoplasms,14,68 although the evidence for both points of view is equivocal. The possible neoplastic nature of these cysts is discussed further in Chapter 11.
Photodynamic Therapy
Henry W. Lim, Nicholas A. Soter in Clinical Photomedicine, 2018
We have treated eight patients with basal cell nevus syndrome at our institution, with generally excellent results. We have been able to treat as many as 20–40 sites in a 2-day treatment session. Compared to other destructive modalities such as cryotherapy or electrodesiccation and curettage, there is generally more rapid healing and much less scarring. Our experience is that patients with basal cell nevus syndrome report significantly less perioperative and postoperative pain and prefer photodynamic therapy over other modalities.
Nevoid basal cell carcinoma syndrome: a case report and literature review
Published in Ophthalmic Genetics, 2022
Shripadh Chitta, Jineet Patel, Shravan Renapurkar, Christopher Loschiavo, Jennifer Rhodes, Kayla King, Kimberly Salkey, Natario Couser
Nevoid Basal Cell Carcinoma Syndrome is a rare multi-system syndrome with a variety of clinical manifestations, radiological characteristics, and complex genetics. Despite being discovered over 50 years ago, investigators are still characterizing clinical features common in the patient population. The disorder’s unique systemic features include multiple BCCs, CNS findings such as calcified falx cerebri, skeletal abnormalities such as bossing and rib anomalies, palmar-plantar pits, and keratocystic odontogenic cysts. However, these do not occur in all patients with NBCCS. Treatments exist for some of these systemic findings, and for BCCs, there exist a plethora. BCCs are best treated with surgical excision, but when in high-risk locations or on the face, non-surgical treatments can be used, including vismodegib and MAL-PDT. Moreover, BCC prevention with UV protection is highly important.
Genetic alterations conferring resistance to hedgehog inhibitors in basal cell carcinoma
Published in Expert Opinion on Drug Safety, 2022
Basal cell nevus syndrome, or Gorlin syndrome (GS), is due to mutations within the Hh pathway, and patients with GS typically present with multiple, and in some cases, more than 100 BCCs at the time of presentation [3]. GS most commonly involves mutations in PTCH1, but SUFU mutations may occur as well [3,4]. For these patients, it is difficult to surgically remove each BCC, and radiation therapy may be associated with a number of adverse effects, including cognitive deficit and seizure disorder [3]. Thus, SMO inhibitors are an appealing option for GS. While the use of SMO inhibitors may be effective for PTCH-1 associated GS, it is not effective for SUFU-associated GS because SUFU is downstream SMO in the Hh pathway [3–5]. Furthermore, infundibulocystic BCC is a subtype of BCC histologically distinguished by dermal proliferation of anastomosing cords and strands of basoloid cells with associated small infundibular-type, keratin-filled cysts [6]. Reports have noted SUFU mutations, which are downstream of SMO, in patients with infundibulocystic BCC [5,6]; therefore, this type of variant of BCC may be a clue to Hh inhibitor resistance. A case of infundibulocystic BCC with SUFU mutation showed no response to daily vismodegib treatment [5]. Thus, a potential challenge in the treatment of advanced BCCs with SMO inhibitors is resistance due to mutations downstream of SMO in the Hh pathway. Furthermore, inhibiting the Hh pathway in these resistant cases was also associated with considerable adverse effects [4,5]. Genetic testing of tumors may be indicated in cases of advanced BCC or infundibulocystic BCC to ensure that the existing Hh mutation occurs upstream of SMO to avoid unnecessary adverse effects of vismodegib or sonidegib [5].
Smoothened receptor inhibitor vismodegib for the treatment of basal cell carcinoma: a retrospective analysis of efficacy and side effects
Published in Journal of Dermatological Treatment, 2020
András Bánvölgyi, Pálma Anker, Kende Lőrincz, Norbert Kiss, Dalma Márton, Luca Fésűs, Nóra Gyöngyösi, Norbert Wikonkál
Basal cell carcinoma (BCC) is the most common malignancy in fair-skinned humans with an increasing incidence. Although the chance to develop BCC is greater with older age, a shift toward younger patients and more aggressive forms can be observed. It may be safely presumed that BCCs are often not reported to national cancer registries, their incidence is probably underestimated (1,2). The occurrence of multiple BCCs can be associated with rare hereditary syndromes, such as nevoid basal cell carcinoma syndrome (NBCCS) also known as Gorlin-Goltz syndrome, xeroderma pigmentosum, and Bazex syndrome (3).
Related Knowledge Centers
- Bone
- Eye
- Melanoma
- Molecular Genetics
- Nervous System
- Skin Cancer
- Endocrine System
- Skin
- Basal-Cell Carcinoma
- Dominance