Genetic subtyping of breast implant–associated anaplastic large cell lymphoma

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a recently described form of T-cell non-Hodgkin lymphoma now formally recognized by the World Health Organization classification of lymphoid neoplasms. The disease most often presents with a delayed seroma around the breast implant, almost exclusively with a textured surface, and manifests with breast pain, swelling or asymmetry, capsular contracture, but can also present with a breast mass, and lymph node involvement. The prognosis of BIA-ALCL is favorable compared with many other subtypes of systemic T-cell lymphoma; however, unlike other non-Hodgkin lymphomas, complete surgical excision for localized disease is an important part of the management of these patients. In this paper, we share our recommendations for a multidisciplinary team approach to the diagnosis, workup, and treatment of BIA-ALCL in line with consensus guidelines by the National Comprehensive Cancer Network.

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“…BIA-ALCL is negative for DUSP22 and TP63; however, these are not routine tests in the diagnosis of the disease. 38…”

Section: Pathologic Definitionmentioning

confidence: 99%

How I treat breast implant–associated anaplastic large cell lymphoma

Mehta‐Shah

Clemens

Horwitz

2018

Blood

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“…Rearrangements of the IRF4 / DUSP22 locus at 6p25 and of TP63 , which are frequently observed in systemic or primary cutaneous ALCL, have not been found in any of the cases tested so far (0/46 and 0/37, respectively) . In addition, no structural variants involving the TR genes have been identified …”

Section: Breast Implant‐associated Anaplastic Large Cell Lymphomamentioning

confidence: 81%

“…So far, a relatively small number of BIA‐ALCL have been successfully analyzed by whole exome or, more commonly, targeted next generation sequencing . The most recurrent finding consists of STAT3 activating mutations found overall in 13/34 cases, with a prevalence ranging from 20% to 64%.…”

Section: Breast Implant‐associated Anaplastic Large Cell Lymphomamentioning

confidence: 99%

Breast implant‐associated anaplastic large cell lymphoma and other rare T‐cell lymphomas

Leval

2019

Hematological Oncology

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Peripheral T-cell lymphomas (PTCLs) account for less than 15% of all non-Hodgkin lymphomas worldwide. In the current WHO classification, more than 25 types of T-cell neoplasms are listed (Table 1). 1 Considering the noncutaneous T-cell lymphomas, despite substantial geographic variations in the incidence and the subtype prevalence, a few entities-essentially those presenting as nodal diseases-are relatively common and account for the majority of the cases, while extranodal entities are far less common or distinctively rare. Here, we will review the clinico-pathological features of breast implant (BI)-associated anaplastic large cell lymphoma and intestinal T-cell neoplasms, with a focus on the recent advances in the understanding of their molecular biology and pathogenesis. 2 | BREAST IMPLANT-ASSOCIATED ANAPLASTIC LARGE CELL LYMPHOMA Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a very rare form of T-cell lymphoma that arises in association with BIs. BIA-ALCL was introduced as a new provisional disease entity in the recently revised WHO classification of lymphoid malignancies, distinct from the other types of ALCLs already recognized (anaplastic lymphoma kinase [ALK]-positive and ALK-negative ALCL and primary cutaneous ALCL). 1 2.1 | Epidemiology Since the first case was described in 1997, more than 500 cases of BIA-ALCL have been reported in the literature worldwide. An increasing number of dioagnoses were recorded over the recent years reflecting a substantial increase in recognition and awareness of the disease. Notwithstanding these trends, the incidence of BIA-ALCL remains very low. Primary breast lymphomas represent 1% to 2% of all non-Hodgkin lymphomas, with most cases diagnosed as diffuse large B-cell lymphomas, follicular or marginal zone B-cell lymphomas. Among more than 400 breast lymphomas accumulated between 2010 and 2018 in the French lymphoma network, BIA-ALCL represented 10% of the diagnoses. 2Taking into consideration the very large number of women with BIs over the world, the individual risk of BIA-ALCL is very small. A recent population-based case-control study based on the pathology registry in the Netherlands established that BI is associated with a markedly increased risk (400 times) of developing ALCL, but the absolute cumulative risk is estimated to one case for every 50 000 women with BI by the age of 50 years and one per 7000 by the age of 75. 2 In another study based on US cases, the lifetime risk of BIA-ALCL in women with textured implants was estimated to be 1 in 30 000. 3 | Clinical featuresThe mean age at diagnosis is in the 50s. Approximately 60% of women who develop BIA-ALCL had implants for cosmetic reasons, and 40% had implants for reconstructive purposes after surgery for breast cancer. BIA-ALCL has also been reported in three transgender male to female individuals. The median time interval between implant insertion and lymphoma diagnosis is 8 to 9 years in different studies, but wide variations are observed. There is no significant difference in risk o...

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“…Genetically, while cell lines derived from BI-ALCL effusions have unstable and complex karyotypes (60), the few primary lymphoma samples examined so far show no or few alterations. The recurrent translocations found in other ALK-negative ALCL have not been found (57,61). Conversely, similar to other ALK-negative ALCLs, activation of STAT3 is common and mutations of JAK1 or STAT3 have been reported in individual case reports and small series (61-64)*.…”

Section: Anaplastic Large Cell Lymphomas (Alcls)mentioning

confidence: 93%