PIK3CA-related overgrowth with an uncommon phenotype: case report

Rotunno, Roberta; Diociaiuti, Andrea; Pisaneschi, Elisa; Carnevale, Claudia; Dentici, Marialisa; Hachem, May El

doi:10.1186/s13052-022-01268-9

Cited by 4 publications

(3 citation statements)

References 16 publications

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“…Psychomotor delay was detected in four cases. Interestingly, patient n. 28 presented an epidermal nevus of the lower eyelid ( Figure 5 B), and the previously reported patient n. 30 had blaschkoid hypochromic macules on the thighs [ 11 ]. Neuroimaging confirmed megalencephaly or hemimegalencephaly in all cases ( Figure 4 D), thickened corpus callosum in four ( Figure 4 E), polymicrogyria in two ( Figure 4 D), Chiari malformation type I in two ( Figure 4 F), ventriculomegaly/hydrocephaly in two, and syringomyelia in one.…”

Section: Resultsmentioning

confidence: 72%

“…Asymmetric overgrowth was predominantly left-sided in MCAP (5/6 cases), CLOVES (2/3 cases), and KTS (2/2 cases), as previously described [ 28 ]. In addition to typical clinical manifestations, two of our MCAP patients presented unusual features: an epidermal nevus in patient n. 28, and hypochromic macules in a blaschkoid pattern in patient 30 [ 11 ]. To our knowledge, epidermal nevus has not been described in MCAP, while it is a common feature of CLOVES [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

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Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study

et al. 2022

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Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes—mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study of 43 patients affected with sporadic VMs, who had received molecular diagnosis by high-depth targeted next-generation sequencing in our center. Clinical and imaging features were correlated with the sequence variants identified in lesional tissues. Six of nine patients with capillary malformation and overgrowth (CMO) carried the recurrent GNAQ somatic mutation p.Arg183Gln, while two had PIK3CA mutations. Unexpectedly, 8 of 11 cases of diffuse CM with overgrowth (DCMO) carried known PIK3CA mutations, and the remaining 3 had pathogenic GNA11 variants. Recurrent PIK3CA mutations were identified in the patients with megalencephaly–CM–polymicrogyria (MCAP), CLOVES, and Klippel–Trenaunay syndrome. Interestingly, PIK3CA somatic mutations were associated with hand/foot anomalies not only in MCAP and CLOVES, but also in CMO and DCMO. Two patients with blue rubber bleb nevus syndrome carried double somatic TEK mutations, two of which were previously undescribed. In addition, a novel sporadic case of Parkes Weber syndrome (PWS) due to an RASA1 mosaic pathogenic variant was described. Finally, a girl with a mild PWS and another diagnosed with CMO carried pathogenic KRAS somatic variants, showing the variability of phenotypic features associated with KRAS mutations. Overall, our findings expand the clinical and molecular spectrum of sporadic VMs, and show the relevance of genetic testing for accurate diagnosis and emerging targeted therapies.

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Section: Resultsmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study

et al. 2022

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“…FIL is primarily sporadic, with no known familial cases, indicating that its pathogenesis is likely driven by somatic variants. The advent of next-generation sequencing (NGS) has markedly advanced our understanding of the underlying mechanisms of overgrowth disorders [ 6 ]. In 2014, the identification of somatic mutations in the phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene in abnormal tissues from six FIL patients shed light on the molecular etiology of FIL [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience

Chen,

Sun,

Xia

et al. 2024

Head Face Med

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Background Facial infiltrating lipomatosis (FIL) is a rare condition characterized by congenital facial enlargement. Beyond its impact on physical appearance, FIL can also impair essential facial functions such as swallowing, chewing, vision, and breathing, imposing a substantial physiological and psychological burden. Currently, fewer than 80 cases of FIL have been reported, and the characteristics and management strategies for FIL remain unclear. Methods We reviewed the clinical, surgical, and radiological records of 39 FIL patients who were treated at our center. Of these, genetic testing was performed for 21 patients. Results Aberrant overgrowth involves subcutaneous fat, bones, muscles, glands, tongue, lips, and teeth. Epidermal nevi could be observed in the dermatomes innervated by the three branches of the trigeminal nerve, with the highest frequency seen in the dermatome of the mandibular branch. Four patients exhibited concurrent hemimegalencephaly (HMEG), with one case presenting HMEG on the opposite side of the FIL. Nineteen patients were confirmed to harbor the PIK3CA mutation. Thirty-three patients underwent surgical procedures, with a post resection recurrence rate of approximately 25%. Conclusions A variety of maxillofacial structures may be involved in FIL. PIK3CA mutations are important pathogenic factors. Emerging targeted therapies could present an additional treatment avenue in the future. However, surgery currently remains the predominant treatment choice for FIL. The timing and modality of surgery should be individually customized, taking into account each patient's unique circumstances. Notably, there is a significant possibility of postoperative recurrence during childhood and adolescence, necessitating early strategic planning of disease management.

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The Big Brain Theory: A Review of Overgrowth Syndromes for the Neuroradiologist

Marini,

Mistry,

Jetty

et al. 2023

neurograph

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Overgrowth syndromes are a generally rare and diverse spectrum of disease states related to genetic mutations regulating cell growth and metabolism, resulting in pathologic overgrowth of anatomic structures. Due to their rarity, radiologists may be generally unfamiliar with these diseases. Furthermore, the complexity of these conditions may pose a challenge to clinicians seeking to understand these syndromes. In this review, we provide an overview of the common imaging findings of overgrowth syndromes for the neuroradiologist with an additional emphasis on predisposition to malignancy. Understanding the most common neuroimaging findings and considerations associated with overgrowth syndromes helps to provide the highest quality of care to these patients by equipping the radiologist with the skills to actively search for characteristic disease manifestations and complications.Learning Objective: To identify the neuroimaging findings in overgrowth syndromes

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PIK3CA-related overgrowth with an uncommon phenotype: case report

Cited by 4 publications

References 16 publications

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study

Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience

The Big Brain Theory: A Review of Overgrowth Syndromes for the Neuroradiologist

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