Familial Leiomyomatosis Research Articles

A177 AN UNUSUAL CULPRIT OF AN UPPER GASTROINTESTINAL BLEED IN A PAEDIATRIC PATIENT

Abstract Background Leiomyomas are benign tumors originating from mesenchymal cells in the muscularis propria that present equally among the sexes usually as localized lesions after the fifth decade. Though rare, esophageal leiomyomas (EL) make up the majority of benign esophageal tumors and are typically located distally. Of all known cases, 2.6% are paediatric. In this population they are 1.71 times more common in females and are often diffuse. Most are slow growing and asymptomatic but when >5cm patients describe dysphagia, vomiting, pain, cough and anorexia. Gastric leiomyomas causing upper gastrointestinal bleeding (UGIB) in adults are reported. Aims To discuss a rare cause of UGIB in a child. Methods Case report. Results We present a 16-year-old Asian boy with no significant past medical history who was transferred to our institution for an UGIB following 3 days of dark black stools, 1 day of coffee ground emesis and pre-syncope. There was no history of non-steroidal anti-inflammatory use. At presentation he was in shock and received fluid resuscitation and a pantoprazole infusion. His hemoglobin dropped to 81 from 150g/L and corrected with 2 units of packed red blood cells. He was pale, non-dysmorphic with no cutaneous lesions, abdomen was non-distended and non-tender with no masses or hepatosplenomegaly. An abdominal ultrasound showed mild bowel wall thickening in the cecum and terminal ileum. Emergent upper endoscopy identified an ulcerated sessile mass at the gastro-esophageal junction. Biopsies revealed polypoid inflamed gastric mucosa with a focal intestinal metaplasia, negative for malignancy. Magnetic resonance scan characterized a 3.8x4.3x2.5cm lesion in the stomach cardia not extending beyond the serosa with suggested causes including EL and gastrointestinal stromal tumor (GIST). Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) demonstrated a 2.8x1.8cm well circumscribed homogenous hypoechoic mass in the muscularis propria of the distal esophagus. Histopathology showed bland tumor cells with eosinophilic cytoplasm and nuclei that did not demonstrate atypia. Immunohistochemistry (IHC) stains were positive for smooth muscle actin and desmin. CD117, S-100 and DOG1 were negative. Findings were therefore in keeping with a leiomyoma and not a GIST. He was referred to the Cancer Genetics clinic for consideration of hereditary leiomyomatosis renal cell cancer and General Surgery for resection. Conclusions This case highlights a rare cause of UGIB in a child. EL are scarcely found in children and at present there are no reports of EL causing UGIB. They can be associated with Alport Syndrome or Familial Leiomyomatosis. IHC is an essential diagnostic tool, enabling differentiation of EL from GIST which is important as the latter has malignant potential. EL can be monitored with endoscopy if small but are surgically resected if symptomatic, ulcerated, or growing. Funding Agencies None

An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance.

An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance.

Successful treatment of multiple cutaneous leiomyomas with carbon dioxide laser ablation.

Successful treatment of multiple cutaneous leiomyomas with carbon dioxide laser ablation.

Atypical pilar leiomyomatosis: an unusual presentation of multiple atypical cutaneous leiomyomas

Cutaneous leiomyomas are relatively common benign smooth muscle tumors that may arise as solitary or multiple lesions. Rare forms with cytologic atypia, and features similar to symplastic leiomyomas of the uterus, have been described. We report a case of multiple cutaneous atypical leiomyomas occurring in a 43-year-old man with long history of lesions of the right lower leg and a family history of leiomyomatosis. Twenty of the lesions were excised due to pain and were examined histopathologically. All the lesions exhibited features described in atypical leiomyomas of the skin including increased cellularity, nuclear atypia and pleomorphism, and low mitotic activity. The biologic potential of cutaneous atypical leiomyomas is uncertain. Only a few case reports exist in the literature with the majority occurring as solitary lesions. Most of the reported atypical leiomyomas have behaved in a benign fashion. However, a rare account of transformation to leiomyosarcoma emphasizes the need for long-term follow up of these patients. Herein, we describe a case of multiple atypical cutaneous leiomyomas arising in the setting of familial leiomyomatosis.

Chromosome Imbalances and Alterations in the p53 Gene in Uterine Myomas from the Same Family Members: Familial Leiomyomatosis in Turkey

Uterine leiomyomas (UL) are extremely common neoplasms in women of reproductive age, and are associated with a variety of characteristic choromosomal aberrations (CAs). The p53 gene has been reported to play a crucial role in suppressing the growth of a variety of cancer cells. Therefore, the present study investigated the effects of CAs and the p53 gene on ULs. We performed cytogenetic analysis by G-banding in 10 cases undergoing myomectomy or hysterectomy. Fluorescence in situ hybridization (FISH) with a p53 gene probe was also used on interphase nuclei to screen for deletions. In patients, CAs were found in 23.4% of 500 cells analysed, significantly more frequent than in the control group (p<0.001). In the patients, 76% of the abnormalities were structural aberrations (deletions, translocations and breaks), and only 24% were numerical. Deletions were the most common structural aberration observed in CAs. Among these CAs, specific changes in five loci 1q11, 1q42, 2p23, 5q31 and Xp22 have been found in our patients and these changes were not reported previously in UL. The chromosome breaks were more frequent in cases, from high to low, 1, 2, 6, 9, 3, 5, 10 and 12. Chromosome 22, X, 3, 17 and 18 aneuploidy was observed to be the most frequent among all numerical aberrations. We observed a low frequency of p53 losses (2-11%) in our cases. The increased incidence of autosomal deletions, translocations, chromatid breaks and aneuploidy, could contribute to the progression of the disease along with other chromosomal alterations.

Familial leiomyomatosis cutis affecting nine family members in two successive generations including four cases of Reed′s syndrome

Reed's syndrome or familial leiomyomatosis cutis et uteri is an autosomal dominant disorder, characterized by multiple cutaneous and uterine leiomyomas. We report here a case of a 53-year-old woman who presented to us with multiple painful nodules over different parts of her body. Based on the histopathological examination, imaging, and past medical records, a diagnosis of Reed's syndrome was made. Three of her sisters had similar disease. Subsequently, it was found that a total of nine members of their family in two successive generations were affected with cutaneous leiomyomas. The present case series has been reported for its interesting clinical presentations and rarity.

Staged, Open, No-Ischemia Nephron-Sparing Surgery for Bilateral-Multiple Kidney Tumors in a Patient with Birt-Hogg-Dubé Syndrome

Hereditary kidney cancer patients with bilateral multiple kidney tumors represent challenges in the era of rapidly growing minimal invasive treatment techniques. Birt-Hogg-Dubé Syndrome (BHDS) is an autosomal dominant genodermatosis characterized by a triad of benign skin tumors (fibrofolliculomas, trichodiscomas, acrochordons) together with an increased risk of developing malignant renal tumors and pulmonary disease such as pneumothoraces and multiple lung cysts. The morbidity and mortality of the affected patients is determined by the presence of the kidney tumors, which tend to be multifocal and bilateral, as observed in other hereditary kidney cancer syndromes like von Hippel-Lindau disease, familial leiomyomatosis, and hereditary papillary renal cell carcinoma. Herein, a patient with BHDS, presenting with synchronous bilateral multiple kidney tumors, is reported. The report describes the management of kidney tumors with two-stage open nephron-sparing surgery in which the nonvascular clamping technique was utilized.

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Piloleiomyoma, a benign smooth-muscle tumor arising from the arrectores pilorum muscles of the skin, affects males and females in the third decade of life. It presents as asymmetrical, reddish-brown nodules or papules with a firm consistency, predominantly located on the limbs. When multiple lesions are present, they may be tender or painful. Their association with uterine fibroids, referred to as Reed syndrome or familial leiomyomatosis cutis et uteri, is rare and may be associated with renal cell carcinoma. The approach consists of surgical excision in cases presenting few lesions and pharmacological treatment if symptomatic. The present paper describes a case of Reed syndrome in which a decision was made to monitor the patient in view of the absence of symptoms.

Gabapentin treatment of multiple piloleiomyoma-related pain

Familial leiomyomatosis cutis et uteri may present with numerous cutaneous leiomyomas, or piloleiomyomas, which can be painful. Pharmacologic agents have had limited efficacy in mitigating leiomyoma-associated discomfort. We describe a case of familial piloleiomyomas in which intermittent pain at the site of the lesions was substantially reduced by the administration of oral gabapentin. The unusual unilateral distribution of leiomyomas in this case is discussed. (J Am Acad Dermatol 2002;46:S27-9.)

Zosteriform multiple leiomyomas

ously been reported as zosteriform.4 The most common presentation is red-brown nodules on the extensor extremities, but they also can occur on the trunk, neck, and even the face.1-3,5,6 These lesions are often sensitive to cold or touch, but pain can also be spontaneous.1-3,5,8-10 The usual course is for new lesions to continue to occur.1,3 Autosomal dominant inheritance of multiple piloleiomyomas has been described.5 Several conditions are associated with piloleiomyomas. Our patient probably has familial leiomyomatosis cutis et uteri, also known as Reed's syndrome.3,6,11 The typical family history for Reed's syndrome is several women with early hysterectomies.6 The inheritance pattern is autosomal dominant with incomplete penetrance.11 Women in these families may have multiple cutaneous leiomyomas. Approximately 50% have uterine leiomyomas, compared with about a 10% incidence in the general population of women in the same age group.1,6 Women with multiple cutaneous leiomyomas need periodic gynecologic evaluation.5,6,11 If uterine leiomyomas are present, the patient should be informed that a hysterectomy may be necessary at some point.5,11 For some women, this information can help with family planning. Leiomyosarcoma has been reported to arise within uterine leiomyoma, necessitating Cutaneous piloleiomyomas are benign, often painful, smooth muscle tumors that usually present as red-brown nodules on the extensor extremities.1-5 They can be solitary, but are multiple in 80% of patients.3,6 Multiple lesions may be grouped or widespread.3,4 We describe a 45-yearold woman with multiple painful piloleiomyomas in a zosteriform pattern on her left flank. To our knowledge, zosteriform leiomyoma cutis has not been previously reported.