We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Case Report/Case Series |

Multiple Hereditary Infundibulocystic Basal Cell Carcinoma Syndrome Associated With a Germline SUFU Mutation

Joshua M. Schulman, MD1,2; Dennis H. Oh, MD, PhD1,3; J. Zachary Sanborn, PhD4; Laura Pincus, MD1,2; Timothy H. McCalmont, MD1,2; Raymond J. Cho, MD, PhD1
[+] Author Affiliations
1Department of Dermatology, University of California, San Francisco
2Department of Pathology, University of California, San Francisco
3Dermatology Research Unit, San Francisco Veterans Affairs Medical Center, San Francisco, California
4NantOmics, LLC, Santa Cruz, California
JAMA Dermatol. 2016;152(3):323-327. doi:10.1001/jamadermatol.2015.4233.
Text Size: A A A
Published online


Importance  Multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is a rare genodermatosis in which numerous indolent, well-differentiated basal cell carcinomas develop primarily on the face and genitals, without other features characteristic of basal cell nevus syndrome. The cause is unknown. The purpose of the study was to identify a genetic basis for the syndrome and a mechanism by which the associated tumors develop.

Observations  Whole-exome sequencing of 5 tumors and a normal buccal mucosal sample from a patient with MHIBCC was performed. A conserved splice-site mutation in 1 copy of the suppressor of fused gene (SUFU) was identified in all tumor and normal tissue samples. Additional distinct deletions of the trans SUFU allele were identified in all tumor samples, none of which were present in the normal sample.

Conclusions and Relevance  A germline SUFU mutation was present in a patient with MHIBCC, and additional acquired SUFU mutations underlie the development of infundibulocystic basal cell carcinomas. The downstream location of the SUFU gene within the sonic hedgehog pathway may explain why its loss is associated with relatively well-differentiated tumors and suggests that MHIBCC will not respond to therapeutic strategies, such as smoothened inhibitors, that target upstream components of this pathway.

Figures in this Article

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?


Place holder to copy figure label and caption
Figure 1.
Clinical and Histopathologic Features

A, Numerous small, domed, skin-colored papules are present on the central face and around the eyes. Similar papules were also noted on the vulva. B, The close-up appearance of one of the tumors. C, Photomicrographs of 2 infundibulocystic basal cell carcinomas from the patient showing buds and cords of basaloid cells arranged around small keratin-filled cysts; clefting between tumor aggregates and the surrounding stroma is focally evident (hematoxylin-eosin, original magnification ×40).

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
Allele Fraction Estimates of Chromosome 10

Heterozygous single-nucleotide polymorphism database (dbSNP) loci are shown for all 5 tumors; the majority and minority alleles measured in tumor 1 are indicated by red and gray dots, respectively. Loss of whole chromosome 10 is observed in tumors 1, 4, and 5. Tumors 2 and 3 show partial loss of 1 copy of 10q. In addition, tumor 3 shows loss of the other copy of 10p. Mean allele fraction estimates are shown in red and gray lines. The position and allele fraction of the SUFU splice site variant (10:104,377,045A>G) are indicated by the blue Xs. Mb indicates megabase.

Graphic Jump Location




Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.


Some tools below are only available to our subscribers or users with an online account.

0 Citations

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections